In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
Any method used for determining the location of and relative distances between genes on a chromosome.
The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Actual loss of portion of a chromosome.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
Cell surface proteins that bind neuropeptide Y with high affinity and trigger intracellular changes which influence the behavior of cells.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The alignment of CHROMOSOMES at homologous sequences.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Proteins found in SEMEN. Major seminal plasma proteins are secretory proteins from the male sex accessory glands, such as the SEMINAL VESICLES and the PROSTATE. They include the seminal vesicle-specific antigen, an ejaculate clotting protein; and the PROSTATE-SPECIFIC ANTIGEN, a protease and an esterase.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
Genes that are located on the Y CHROMOSOME.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Mapping of the KARYOTYPE of a cell.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
The primary testis-determining gene in mammalians, located on the Y CHROMOSOME. It codes for a high mobility group box transcription factor (TRANSCRIPTION FACTORS) which initiates the development of the TESTES from the embryonic GONADS.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
Aberrant chromosomes with no ends, i.e., circular.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104)
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.
A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.
Structures within the CELL NUCLEUS of insect cells containing DNA.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
Genotypic differences observed among individuals in a population.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
Structures which are contained in or part of CHROMOSOMES.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.
A transcription factor that plays an essential role in the development of the TESTES. It is encoded by a gene on the Y chromosome and contains a specific HMG-BOX DOMAIN that is found within members of the SOX family of transcription factors.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
Validation of the SEX of an individual by inspection of the GONADS and/or by genetic tests.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
Small RNAs found in the cytoplasm usually complexed with proteins in scRNPs (RIBONUCLEOPROTEINS, SMALL CYTOPLASMIC).
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
The relationships of groups of organisms as reflected by their genetic makeup.
The process of germ cell development in the male from the primordial germ cells, through SPERMATOGONIA; SPERMATOCYTES; SPERMATIDS; to the mature haploid SPERMATOZOA.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).
The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.
The possession of a third chromosome of any one type in an otherwise diploid cell.
A 36-amino acid pancreatic hormone that is secreted mainly by endocrine cells found at the periphery of the ISLETS OF LANGERHANS and adjacent to cells containing SOMATOSTATIN and GLUCAGON. Pancreatic polypeptide (PP), when administered peripherally, can suppress gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite. A lack of pancreatic polypeptide (PP) has been associated with OBESITY in rats and mice.
The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
A subclass of purinergic P2Y receptors that have a preference for ATP and ADP. The activated P2Y1 receptor signals through the G-PROTEIN-coupled activation of PHOSPHOLIPASE C and mobilization of intracellular CALCIUM.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
The asymmetrical segregation of genes during replication which leads to the production of non-reciprocal recombinant strands and the apparent conversion of one allele into another. Thus, e.g., the meiotic products of an Aa individual may be AAAa or aaaA instead of AAaa, i.e., the A allele has been converted into the a allele or vice versa.
A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.
A 36-amino acid peptide present in many organs and in many sympathetic noradrenergic neurons. It has vasoconstrictor and natriuretic activity and regulates local blood flow, glandular secretion, and smooth muscle activity. The peptide also stimulates feeding and drinking behavior and influences secretion of pituitary hormones.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.
The male gonad containing two functional parts: the SEMINIFEROUS TUBULES for the production and transport of male germ cells (SPERMATOGENESIS) and the interstitial compartment containing LEYDIG CELLS that produce ANDROGENS.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Genetic loci associated with a QUANTITATIVE TRAIT.
An aberration in which an extra chromosome or a chromosomal segment is made.
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
Proteins that bind to RNA molecules. Included here are RIBONUCLEOPROTEINS and other proteins whose function is to bind specifically to RNA.
An individual having different alleles at one or more loci regarding a specific character.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
The process by which a DNA molecule is duplicated.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.
The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.
Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.
Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Genes that are located on the X CHROMOSOME.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
Established cell cultures that have the potential to propagate indefinitely.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Genes that influence the PHENOTYPE only in the homozygous state.
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
An individual in which both alleles at a given locus are identical.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The degree of replication of the chromosome set in the karyotype.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
The functional hereditary units of BACTERIA.
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
DNA present in neoplastic tissue.
The genetic complement of a plant (PLANTS) as represented in its DNA.
A characteristic symptom complex.
DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.

Chromosome abnormalities in sperm from infertile men with asthenoteratozoospermia. (1/870)

Research over the past few years has clearly demonstrated that infertile men have an increased frequency of chromosome abnormalities in their sperm. These studies have been further corroborated by an increased frequency of chromosome abnormalities in newborns and fetuses from pregnancies established by intracytoplasmic sperm injection. Most studies have considered men with any type of infertility. However, it is possible that some types of infertility have an increased risk of sperm chromosome abnormalities, whereas others do not. We studied 10 men with a specific type of infertility, asthenozoospermia (poor motility), by multicolor fluorescence in situ hybridization analysis to determine whether they had an increased frequency of disomy for chromosomes 13, 21, XX, YY, and XY, as well as diploidy. The patients ranged in age from 28 to 42 yr (mean 34.1 yr); they were compared with 18 normal control donors whose ages ranged from 23 to 58 yr (mean 35.6 yr). A total of 201 416 sperm were analyzed in the men with asthenozoospermia, with a minimum of 10 000 sperm analyzed per chromosome probe per donor. There was a significant increase in the frequency of disomy in men with asthenozoospermia compared with controls for chromosomes 13 and XX. Thus, this study indicates that infertile men with poorly motile sperm but normal concentration have a significantly increased frequency of sperm chromosome abnormalities.  (+info)

Alpha-satellite DNA and vector composition influence rates of human artificial chromosome formation. (2/870)

Human artificial chromosomes (HACs) have been proposed as a new class of potential gene transfer and gene therapy vector. HACs can be formed when bacterial cloning vectors containing alpha-satellite DNA are transfected into cultured human cells. We have compared the HAC-forming potential of different sequences to identify features critical to the efficiency of the process. Chromosome 17 or 21 alpha-satellite arrays are highly competent HAC-forming substrates in this assay. In contrast, a Y-chromosome-derived alpha-satellite sequence is inefficient, suggesting that centromere specification is at least partly dependent on DNA sequence. The length of the input array is also an important determinant, as reduction of the chromosome-17-based array from 80 kb to 35 kb reduced the frequency of HAC formation. In addition to the alpha-satellite component, vector composition also influenced HAC formation rates, size, and copy number. The data presented here have a significant impact on the design of future HAC vectors that have potential to be developed for therapeutic applications and as tools for investigating human chromosome structure and function.  (+info)

Genetic follow-up of male offspring born by ICSI, using a multiplex fluorescent PCR-based test for Yq deletions. (3/870)

De-novo deletions involving AZFa, b, c and d are one of the most common chromosomal aberrations in man resulting in defective spermatogenesis and male infertility. Currently, Yq deletion screening involves either single or multiplex PCR using Y-specific sequence tagged site markers and the subsequent analysis of the amplification products on ethidium bromide-stained agarose gels. To improve the practicality of routine and high throughput Yq testing, we have developed a more sensitive multiplex fluorescent (FL)-PCR screening system using genomic DNA extracted from cheek buccal cells as a readily available PCR template. For genetic follow-up studies of ICSI-conceived children, we also developed a DNA fingerprinting system based on the co-amplification of four highly polymorphic markers to validate family samples and detect any potential extraneous DNA contamination that could cause a misdiagnosis. Multiplex FL-PCR analysis of buccal cell DNA from two infertile men who conceived three sons by ICSI demonstrated that their Yq deletions were vertically transmitted. Fine mapping with additional Yq markers revealed identical deletion endpoints involving the loss of AZFdc sequences. This firstly indicates that the extent of the Yq deletion was unchanged on ICSI transmission and secondly supports the view that AZFdc deletions may arise by a common de-novo event. Analysis of paternal, maternal and sibling DNA fingerprints showed the co-inheritance of parental alleles by each male child and confirmed the expected relationship between each family member. The application of these new FL-PCR based screening tests in genetic follow-up studies will assist in confirming transmission of specific genetic defects to male offspring conceived by ICSI and provide a basis for genetic counselling and potential treatment options as these boys approach sexual maturity.  (+info)

Transmission of male infertility to future generations: lessons from the Y chromosome. (4/870)

The introduction of ICSI and testicular sperm extraction (TESE) has allowed many infertile men to father children. The biggest concern about the wide use of these techniques is the health of the resulting offspring, in particular their fertility status. If the spermatogenic defect is genetic in origin, there is potential risk of transmitting this defect to future offspring. The most frequently documented genetic cause of male infertility is a Y chromosome deletion. The Y chromosome has acquired a large number of testis-specific genes during recent evolution, and deletions causing infertility take out a number of these genes. These deletions have been shown to be transmitted to 100% of male offspring. Also, absence of an aberration on the Y chromosome does not rule out a genetic cause of the infertility phenotype, as there are many other genes involved in spermatogenesis elsewhere in the genome, and current mapping techniques--especially on the Y chromosome--can miss many aberrations. More detailed studies of these spermatogenesis genes, which are now possible because of more precise sequence-based mapping, will lead to improved understanding of the genetic basis of male infertility and enable proper counselling of patients undergoing ICSI in the future.  (+info)

Microdeletions in the Y chromosome of patients with idiopathic azoospermia. (5/870)

AIM: To evaluate the occurrence and prevalence of microdeletions in the gamma chromosome of patients with azoospermia. METHODS: DNA from 29 men with idiopathic azoospermia was screened by polymerase chain reaction (PCR) analysis with a set of gamma chromosome specific sequence-tagged sites (STSs) to determine microdeletions in the gamma chromosome. RESULTS: Deletions in the DAZ (deleted in azoospermia) loci sgamma254 and sgamma255 were found in three patients with idiopathic azoospermia, resulting in an estimated frequency of deletions of 10.7% in idiopathic azoospermia men. CONCLUSION: We conclude that PCR analysis is useful for the diagnosis of microdeletions in the Y chromosome, which is important when deciding the suitability of a patient for assisted reproductive technology such as testicular sperm extracion-intracytoplasmic sperm injection (TESE-ICSI).  (+info)

Sperm aneuploidy rates in younger and older men. (6/870)

BACKGROUND: In order to assess the possible risk of chromosomal abnormalities in offspring from older fathers, we investigated the effects of age on the frequency of chromosomal aneuploidy rates of human sperm. METHODS AND RESULTS: Semen samples were collected from 15 men aged <30 years (24.8 +/- 2.4 years) and from eight men aged >60 years (65.3 +/- 3.9 years) from the general population. No significant differences in ejaculate volume, sperm concentration and sperm morphology were found, whereas sperm motility was significantly lower in older men (P = 0.002). For the hormone values, only FSH was significantly elevated in the older men (P = 0.004). Multicolour fluorescence in-situ hybridization was used to determine the aneuploidy frequencies of two autosomes (9 and 18); and of both sex chromosomes using directly labelled satellite DNA probes on decondensed sperm nuclei. A minimum of 8000 sperm per donor and >330 000 sperm in total were evaluated. The disomy rates per analysed chromosomes were 0.1-2.3% in younger men and 0.1-1.8% in older men. The aneuploidy rate determined for both sex chromosomes and for the autosomes 9 and 18 were not significantly different between the age groups. CONCLUSIONS: The results suggest that men of advanced age still wanting to become fathers do not have a significantly higher risk of procreating offspring with chromosomal abnormalities compared with younger men.  (+info)

Achievement of pregnancy in globozoospermia with Y chromosome microdeletion after ICSI. (7/870)

Pregnancy achieved with sperm from a patient with globozoospermia is rare, even after ICSI, since the activation of the oocyte may not occur in this disorder. Therefore, activation of the oocytes by piezoelectricity or calcium ionophores has been suggested, although spontaneous activation of the oocyte after ICSI has been reported in some cases. We report a successful pregnancy in a couple in which the male partner had globozoospermia with microdeletions in the Y chromosome with no further assisted activation after ICSI. During the diagnostic study of the husband, increased numerical chromosome abnormalities after fluorescent in-situ hybridization (FISH) and microdeletions in AZFa; sY86 and AZFb; sY 131 were detected. Out of the 13 oocytes injected, four fertilized and a twin pregnancy was obtained after replacement of four embryos. Healthy twin girls were delivered after a term pregnancy. Some patients with globozoospermia may also have Y chromosome microdeletions, which subsequently may be inherited by the male offspring in cases of achievement of pregnancy.  (+info)

Y-chromosome microdeletions and cytogenetic findings in unselected ICSI candidates at a Danish fertility clinic. (8/870)

PURPOSE: To determine the frequency and type of microdeletions on the Y chromosome, and to evaluate cytogenetic findings in unselected ICSI candidates at a Danish Fertility Clinic. METHODS: Genomic DNA was extracted from blood samples, which were collected prospectively from 400 ICSI candidates attending the Fertility Clinic at Aarhus University Hospital, Denmark. Twenty-five sequence tagged sites (STSs) spanning the azoospermia factor (AZF) regions of the Y chromosome were amplified in 5 multiplex sets to investigate Y microdeletions. Semen analysis, karyotype analysis, and histological evaluation of testicular biopsies were also performed. RESULTS: Y microdeletions were detected in 3 (0.75%) of 400 unselected ICSI candidates. The frequency of Y microdeletions was found higher in azoospermic men (2%) than in oligozoospermic men (0.6%). Two patients having oligozoospermia had Y microdeletions in the AZFc region only, whereas the patient having azoospermia had Y microdeletions spanning the AZFb and AZFc regions. No microdeletion was detected in the AZFa region. Chromosomal anomalies were found in 6.1% of azoospermic men and in 2.7% of oligozoospermic men. A high frequency of cytogenetic abnormalities was found in normozoospermic men with fertilization failure (7.4%). CONCLUSIONS: The frequency of Y microdeletions both in the unselected ICSI candidates and subgroups classified as azoospermic and oligozoospermic seems rather low compared to results of previous studies, which have been quite varying. It is possible that in addition to patient selection criteria, ethnical and geographical differences may contribute to these variations. Cytogenetic evaluation of normozoospermic men with fertilization failure seems indicated because of a high frequency of cytogenetic abnormalities.  (+info)

Free Online Library: Analysis of Mutation Rate of 17 Y-Chromosome Short Tandem Repeats Loci Using Tanzanian Father-Son Paired Samples.(Research Article, Report) by Genetics Research International; Health, general Forensic sciences Genetic aspects Gene mutation Diagnosis Physiological aspects Gene mutations Y chromosome
The host genetic basis of differential outcomes in HIV infection, progression, viral load set point and highly active retroviral therapy (HAART) responses was examined for the common Y haplogroups in European Americans and African Americans. Accelerated progression to acquired immune deficiency syndrome (AIDS) and related death in European Americans among Y chromosome haplogroup I (Y-I) subjects was discovered. Additionally, Y-I haplogroup subjects on HAART took a longer time to HIV-1 viral suppression and were more likely to fail HAART. Both the accelerated progression and longer time to viral suppression results observed in haplogroup Y-I were significant after false-discovery-rate corrections. A higher frequency of AIDS-defining illnesses was also observed in haplogroup Y-I. These effects were independent of the previously identified autosomal AIDS restriction genes. When the Y-I haplogroup subjects were further subdivided into six I subhaplogroups, no one subhaplogroup accounted for the ...
The host genetic basis of differential outcomes in HIV infection, progression, viral load set point and highly active retroviral therapy (HAART) responses was examined for the common Y haplogroups in European Americans and African Americans. Accelerated progression to acquired immune deficiency syndrome (AIDS) and related death in European Americans among Y chromosome haplogroup I (Y-I) subjects was discovered. Additionally, Y-I haplogroup subjects on HAART took a longer time to HIV-1 viral suppression and were more likely to fail HAART. Both the accelerated progression and longer time to viral suppression results observed in haplogroup Y-I were significant after false-discovery-rate corrections. A higher frequency of AIDS-defining illnesses was also observed in haplogroup Y-I. These effects were independent of the previously identified autosomal AIDS restriction genes. When the Y-I haplogroup subjects were further subdivided into six I subhaplogroups, no one subhaplogroup accounted for the ...
Haplogroup E, defined by mutation M40, is the most common human Y chromosome clade within Africa. To increase the level of resolution of haplogroup E, we disclosed the phylogenetic relationships among 729 mutations found in 33 haplogroup DE Y-chromosomes sequenced at high coverage in previous studies. Additionally, we dissected the E-M35 subclade by genotyping 62 informative markers in 5,222 samples from 118 worldwide populations. The phylogeny of haplogroup E showed novel features compared with the previous topology, including a new basal dichotomy. Within haplogroup E-M35, we resolved all the previously known polytomies and assigned all the E-M35* chromosomes to five new different clades, all belonging to a newly identified subhaplogroup (E-V1515), which accounts for almost half of the E-M35 chromosomes from the Horn of Africa. Moreover, using a Bayesian phylogeographic analysis and a single nucleotide polymorphism-based approach we localized and dated the origin of this new lineage in the ...
Background: AZFc on human Y chromosome has been found to be functionally important in spermatogenesis. Complete AZFc deletion is one of the most frequent causes of male infertility, while roles of partial AZFc deletions (gr/gr deletion and b2/b3 deletion) in spermatogenesis are controversial. Methods: To further study the roles of partial AZFc deletions in spermatogenic impairment and the relationship between complete and partial AZFc deletions, we typed these deletions, did quantitative analysis of DAZ gene copies, and performed Y chromosome haplogrouping in seven pedigrees of complete AZFc deletion carriers, 296 infertile and 280 healthy men in Chinese. Results: Neither gr/gr deletion nor b2/b3 deletion was found to be associated with spermatogenic failure. In one pedigree, we observed that a complete AZFc deletion was derived from gr/gr deletion, suggesting that complete deletions of AZFc can be preceded with partial deletions. In addition, we identified a new gr/gr-deleted Y haplogroup Q1 ...
Introduction: Y chromosomes are genetically highly variable due to frequent structural rearrangements. The variations may create a genetic background for the susceptibility to Y-related spermatogenic impairment, although few data have been accumulated about the possible correlation between the Y-chromosome haplotype and the predisposition of men to spermatogenic failure.. Objective: To investigate the possible association of Y-chromosome background with spermatogenic failure.. Methods: The distribution of 18 Y-chromosome haplogroups was compared between 414 infertile men with azoospermia or oligozoospermia and 262 normozoospermic men with or without AZFc deletions in a Han population of Southwest China.. Results: A significant population difference in Y-haplogroup distribution was found between the groups of normozoospermia and azoospemia or oligozoospermia, and between the patient groups with oligozoospermia and azoospermia without AZFc deletions. Interpopulation comparison of Y haplogroup ...
The panels of 9-17 Y-chromosomal short tandem repeats (Y-STRs) currently used in forensic genetics have adequate resolution of different paternal lineages in many human populations, but have lower abilities to separate paternal lineages in populations expressing low Y-chromosome diversity. Moreover, current Y-STR sets usually fail to differentiate between related males who belong to the same paternal lineage and, as a consequence, conclusions cannot be drawn on the individual level as is desirable for forensic interpretations. Recently, we identified a new panel of rapidly mutating (RM) Y-STRs, composed of 13 markers with mutation rates above 1×10(-2), whereas most Y-STRs, including all currently used in forensics, have mutation rates in the order of 1×10(-3) or lower. In the present study, we demonstrate in 604 unrelated males sampled from 51 worldwide populations (HGDP-CEPH) that the RM Y-STRs provide substantially higher haplotype diversity and haplotype discrimination capacity (with only 3 ...
Sequencing the genomes of extinct hominids has reshaped our understanding of modern human origins. Here, we analyze ∼120 kb of exome-captured Y-chromosome DNA from a Neandertal individual from El Sidrón, Spain. We investigate its divergence from orthologous chimpanzee and modern human sequences and find strong support for a model that places the Neandertal lineage as an outgroup to modern human Y chromosomes-including A00, the highly divergent basal haplogroup. We estimate that the time to the most recent common ancestor (TMRCA) of Neandertal and modern human Y chromosomes is ∼588 thousand years ago (kya) (95% confidence interval [CI]: 447-806 kya). This is ∼2.1 (95% CI: 1.7-2.9) times longer than the TMRCA of A00 and other extant modern human Y-chromosome lineages. This estimate suggests that the Y-chromosome divergence mirrors the population divergence of Neandertals and modern human ancestors, and it refutes alternative scenarios of a relatively recent or super-archaic origin of ...
The most significant and widely studied remodeling of the African genetic landscape is the Bantu expansion, which led to an almost total replacement of the previous populations from the sub-Saharan region. However, a poor knowledge exists about other population movements, namely, the Nilotic migration, which is a pastoralist dispersal that, contrary to the Bantu expansion, impacted only East African populations. Here, samples from a Ugandan Nilotic-speaking population were studied for 37 Y chromosome-specific SNPs, and the obtained data were compared with those already available for other sub-Saharan population groups. Although Uganda lies on the fringe of both Bantu and Nilotic expansions, a low admixture with Bantu populations was detected, with haplogroups carrying M13, M182 and M75 mutations prevailing in Nilotes together with a low frequency of the main Bantu haplogroups from clade E1b1a-M2. The results of a comparative analysis with data from other population groups allowed a deeper
Nineteen Y-chromosomal short tandem repeats (STRs), DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS388, DYS434, DYS435, DYS436, DYS437, DYS438, DYS439, DYS460, DYS461 and DYS462 were typed in Inuit (n=70) and Danish (n=62) population samples.
Int J Legal Med. 1999;112(6):403-5. Haplotype frequencies of eight Y-chromosome STR loci in Barcelona (North-East Spain). Gene M, Borrego N, Xifro A, Pique E, Moreno P, Huguet E. Forensic Genetics Laboratory, Department of Legal Medicine, Faculty of Medicine, University of Barcelona, C. Casanova 143, E-08036 Barcelona, Spain. [email protected] Haplotype frequencies for eight Y-chromosomal short tandem repeat (STR) loci were determined in paragraph signa population sample
A Comparison of Y-Chromosome Variation in Sardinia and Anatolia Is More Consistent with Cultural Rather than Demic Diffusion of Agriculture ...
TUCSON, ARIZONA-Geneticists from the University of Arizona have identified an extremely rare Y chromosome that they say is the oldest-known branch of the human Y chromosome lineage tree. The discovery pushes back the most recent common ancestor for the lineage tree to 338,000 years ago, before the appearance of modern humans in the fossil record. This particular Y chromosome came from an African-American man living in South Carolina who had sent a DNA sample to a consumer genetic testing company. His Y chromosome was eventually matched with 11 men from western Cameroon. And the sequences of those individuals are variable, so its not like they all descended from the same grandfather, said Michael Hammer of the University of Arizona. It is likely that other divergent lineages will be found, whether in Africa or among African-Americans in the U.S. and that some of these may further increase the age of the Y chromosome tree, he added. ...
Approach and Results-A total of 1988 biologically unrelated men from 4 white European populations were genotyped using 11 Y chromosome single nucleotide polymorphisms and classified into 13 most common European haplogroups. Approximately 75% to 93% of the haplotypic variation of the Y chromosome in all cohorts was attributable to I, R1a, and R1b1b2 lineages. None of traditional cardiovascular risk factors, including body mass index, blood pressures, lipids, glucose, C-reactive protein, creatinine, and insulin resistance, was associated with haplogroup I of the Y chromosome in the joint inverse variance meta-analysis. Fourteen of 15 ubiquitous single-copy genes of the male-specific region were expressed in human macrophages. When compared with men with other haplogroups, carriers of haplogroup I had ≈0.61- and 0.64-fold lower expression of ubiquitously transcribed tetratricopeptide repeat, Y-linked gene (UTY) and protein kinase, Y-linked, pseudogene (PRKY) in macrophages (P=0.0001 and P=0.002, ...
This study is to survey 10 Y-STR loci in 241 males from Turkey. In this study, the 241 healthy and unrelated males living in different parts of Turkey for at least three generations were included. Genomic DNAs were isolated from peripheral blood samples by standard phenol-chloroform extraction method. 10 Y-STR loci including DYS19, DYS385a/b, DYS388, DYS389I/II, DYS390, DYS391, DYS392, DYS393, and YCAIIa/b were analyzed by using PCR and denaturing PAGE. Allele frequencies, gene diversities and haplotype frequencies were analyzed. Gene diversity per locus varied from 0.5788 (DYS388) to 0.8903 (DYS385a/b). The numbers of haplotypes in minHt recommended by YCC and Ht10 have been 208 and 186, respectively. When our minHt haplotypes frequencies compared with the other seven populations, we have found statistically significant differences between our results and other populations (P 0.05). We suggest that an alternative haplotype designated as aHt maybe alternative to minHt in respect of its Y-STR
The Y chromosome has recently been suggested to have an association with prostate cancer risk in human populations. Since this chromosome is haploid and lacks recombination over most of its length, haplotypes constructed from binary markers throughout the chromosome can be used for association studies. To assess the possible Y-chromosomal contribution to prostate cancer risk, we have therefore analyzed 14 Y-chromosomal binary markers in 106 prostate cancer cases and 110 controls from the Korean population. In contrast to previous findings in the Japanese population, no statistically significant difference in the distribution of Y-chromosomal haplogroup frequencies was observed between the case and control groups of Koreans. Thus, our data imply that the previously reported associations between Y-chromosomal lineages and a predisposition to, or protection against, prostate cancer might be explained by statistical fluctuations, or by genetic effects that are seen only in some environments.
The paternal haplogroup (hg) N is distributed from southeast Asia to eastern Europe. The demographic processes that have shaped the vast extent of this major Y chromosome lineage across numerous linguistically and autosomally divergent populations have previously been unresolved. On the basis of 94 high-coverage re-sequenced Y chromosomes, we establish and date a detailed hg N phylogeny. We evaluate geographic structure by using 16 distinguishing binary markers in 1,631 hg N Y chromosomes from a collection of 6,521 samples from 56 populations. The more southerly distributed sub-clade N4 emerged before N2a1 and N3, found mostly in the north, but the latter two display more elaborate branching patterns, indicative of regional contrasts in recent expansions. In particular, a number of prominent and well-defined clades with common N3a36 ancestry occur in regionally dissimilar northern Eurasian populations, indicating almost simultaneous regional diversification and expansion within the last 5,000 ...
Hi, I am interested to hear about anyone who has successfully treated male infertility caused by a Y chromosome microdeletion, by using alternative...
Abstract Three main ethnic groups live in the South American country of Ecuador: Mestizos, Amerindian natives, and African-derived populations, or Afro-Ecuadorans. Mestizos and Afro-Ecuadorans can be considered trihybrid populations containing genes originating in the Americas, Europe, and Africa, as is the case with equivalent populations in other Latin American countries. The proportion and the dynamics of the admixture process remain unknown. However, a certain sex asymmetry of the admixture process can be expected for historical reasons. We typed 11 Y-chromosome short tandem repeats (STRs) in these three ethnic groups to provide adequate allele and haplotype frequencies for forensic genetic purposes and to quantify admixture proportions in male lineages. In addition, a data set of 15 autosomal STRs in the same samples were reanalyzed for the same purpose. Contributions to Mestizo Y chromosomes were estimated to be 70% European, 28% Amerindian, and 2% African, whereas in autosomes the ...
Azoospermia induced by Y chromosome microdeletions (AZF region) Test Cost INR 30000.00 Surat Pune Jaipur Lucknow Kanpur Nagpur Visakhapatnam Indore Thane Bhopal Patna Vadodara Ghaziabad Ludhiana Coimbatore Madurai Meerut Ranchi Allahabad Trivandrum Pondicherry Mysore Aligarh best offer discount price
Identification of the population origin of an individual is very useful for crime investigators who need to narrow down a suspect based on specimens left at a crime scene. Single nucleotide polymorphisms of the Y chromosome (Y-SNPs) are a class of markers of interest to forensic investigators because many of the markers indicate regional specificity, thus providing useful information about the geographic origin of a subject. We selected seven informative Y-SNPs (M168, M130, JST021355, M96, P126, P196, and P234) to differentiate the three major population groups (East Asian, European, and African) and used them to develop forensic application. Read More ...
Objective : To determine the prevalence and type of Y chromosome microdeletions in 136 consecutively seen intracytoplasmic sperm injection ICSI candidates and in 50 consecutively seen azoospermic men attending an infertility clinic. Design : Controlled clinical study. Setting : Genetics laboratory and infertility clinic at a University hospital....
This review considers genome-scale evidence on ancient Y chromosome diversity that has recently started to accumulate in geographic areas favourable to DNA preservation.
Background The Koreans are generally considered a northeast Asian group because of their geographical location. However, recent findings from Y chromosome studies showed that the Korean population contains lineages from both southern and northern parts of East Asia. To understand the genetic history and relationships of Korea more fully, additional data and analyses are necessary. Methodology and Results We analyzed mitochondrial DNA (mtDNA) sequence variation in the hypervariable segments I and II (HVS-I and HVS-II) and haplogroup-specific mutations in coding regions in 445 individuals from seven east Asian populations (Korean, Korean-Chinese, Mongolian, Manchurian, Han (Beijing), Vietnamese and Thais). In addition, published mtDNA haplogroup data (N = 3307), mtDNA HVS-I sequences (N = 2313), Y chromosome haplogroup data (N = 1697) and Y chromosome STR data (N = 2713) were analyzed to elucidate the genetic structure of East Asian populations. All the mtDNA profiles studied here were classified into
List of called snps for each sample. I2201 Abel T1a1a1b2b2b1a or T1a1a1b2b2b1a1a2 Darra.I.Kur_d Afghanistan_MBA_Darra_I_Kur R2 low coverage ALA008 Alalakh_MLBA H2a1 ALA001 Alalakh_MLBA J1a2a1a2d2b2b2 ALA018 Alalakh_MLBA J1a2a1a2d2b2b2 ALA035 Alalakh_MLBA J1a2a1a2d2b2b2 ALA002 Alalakh_MLBA J1a2a1a2d2b2b2c ALA026 Alalakh_MLBA J1a2a1a2d2b2b2c
TY - JOUR. T1 - A recent bottleneck of Y chromosome diversity coincides with a global change in culture. AU - Karmin, Monika. AU - Saag, Lauri. AU - Vicente, Mário. AU - Wilson Sayres, Melissa A.. AU - Järve, Mari. AU - Talas, Ulvi Gerst. AU - Rootsi, Siiri. AU - Ilumäe, Anne Mai. AU - Mägi, Reedik. AU - Mitt, Mario. AU - Pagani, Luca. AU - Puurand, Tarmo. AU - Faltyskova, Zuzana. AU - Clemente, Florian. AU - Cardona, Alexia. AU - Metspalu, Ene. AU - Sahakyan, Hovhannes. AU - Yunusbayev, Bayazit. AU - Hudjashov, Georgi. AU - DeGiorgio, Michael. AU - Loogväli, Eva Liis. AU - Eichstaedt, Christina. AU - Eelmets, Mikk. AU - Chaubey, Gyaneshwer. AU - Tambets, Kristiina. AU - Litvinov, Sergei. AU - Mormina, Maru. AU - Xue, Yali. AU - Ayub, Qasim. AU - Zoraqi, Grigor. AU - Korneliussen, Thorfinn S.. AU - Akhatova, Farida. AU - Lachance, Joseph. AU - Tishkoff, Sarah. AU - Momynaliev, Kuvat T.. AU - Ricaut, François Xavier. AU - Kusuma, Pradiptajati. AU - Razafindrazaka, Harilanto. AU - Pierron, ...
The human Y chromosome is a male-specific sex chromosome. Nearly all humans who possess a Y chromosome will be morphologically male. Although the Y chromosome is situated in the cell nucleus, it only recombines with the X-chromosome at the ends of the Y chromosome; the vast majority of the Y chromosome (95%) does not recombine. When mutations (errors in the copying process) arise in the Y chromosome in the form of single-nucleotide polymorphisms) or short tandem repeats, they are passed down directly from father to son in a direct male line of descent. This line is known as the patriline. The Genome Reference Consortium maintains the reference assembly of the human genome. The GRC tracks issues relating to the Y chromosome such as gaps and errors in the sequence. Details can be found here. The GRCh37 build of the Y chromosome has a length of 59,373,566 base-pairs, but only 25,653,566 base-pairs are actually positioned. Build 38 (GRCh38) was released on 24 December 2013.[1] ...
Aim To investigate the population genetics of 17 short tandem repeat (STR) loci on the Y chromosome in the population of eastern Croatia. Methods We carried out a statistical analysis of the data from previously performed genetic analysis collected during routine forensic work by the Forensic Science Centre Ivan Vucetic. A total of 220 unrelated healthy men from eastern Croatia were selected for the purpose of this study. Genomic DNA was extracted by Chelex from FTA® cards. Y-chromosomal STRs were determined using the AmpFISTR Yfiler PCR amplification kit. The haplotype frequencies were determined by direct counting and analyzed using Arlequin 3.1 and analysis of molecular variance calculated with the Y-chromosome haplotype reference database online analysis tool. Results A total of 207 haplotypes were recorded, 197 of which were unique (90%). Haplotype diversity was 0.9993, with the most frequent haplotype found in 4 of 220 men (1.8%). Average locus diversity was 0.600, and it ranged from ...
A Y chromosome represents about 2% of the human genome and is paternally inherited with low mutation rate. The Y chromosome STR test looks at the markers on a Y chromosome and compares them with other Y chromosome markers. Using this test we can determine paternal lineage of a male individual or determine the biological relationship between other male individuals. ...
By one estimate, the human Y chromosome has lost 1,393 of its 1,438 original genes over the course of its existence, and linear extrapolation of this 1,393-gene loss over 300 million years gives a rate of genetic loss of 4.6 genes per million years.[21] Continued loss of genes at the rate of 4.6 genes per million years would result in a Y chromosome with no functional genes - that is the Y chromosome would lose complete function - within the next 10 million years, or half that time with the current age estimate of 160 million years.[16][22] Comparative genomic analysis reveals that many mammalian species are experiencing a similar loss of function in their heterozygous sex chromosome. Degeneration may simply be the fate of all non-recombining sex chromosomes, due to three common evolutionary forces: high mutation rate, inefficient selection, and genetic drift.[16] However, comparisons of the human and chimpanzee Y chromosomes (first published in 2005) show that the human Y chromosome has not ...
As part of the Napoléon I Genome (NIG) project we have reconstructed, based on more than one hundred Y-STRs (Y-short tandem repeats), the complete Y-haplotype of the non-recombinant part of the Y-chromosome (NRY) of French Emperor Napoléon I (1769-1821). We already knew the allelic values at Y-markers of the Y-chromosome of Napoléon I, but only for the palindromic STR YCAIIa and b and for the non-palindromic Y-STR DYS19. The present reconstruction aims to compare the allelic values at Y-STRs of the DNA of Charles Napoléon (C.N.), the living 4th generation descendant of Jérôme Bonaparte (Napoléon Is youngest brother), with those of Alexandre Colonna Walewski (A.C.W.), the living 4th generation descendant of Count Alexandre Walewski (the son born of the union between Napoléon I and Countess Maria Walewska). We have previously established that Napoléon I, C.N. and A.C.W. are of the same Y-haplogroup E1b1b1b2a1. The allelic values for C.N. and A.C.W. are the same for ninety-three other ...
Male relatives can confirm their biological relationship by doing a Y chromosome test. The Y chromosome is only found in males and is a sex determining chromosome. If two males share the same Y chromosome it means that they also have the same paternal lineage. Testing the Y chromosome can be done for the following […]
Hum Biol. 2002 Oct;74(5):645-58. Y-chromosome analysis in Egypt suggests a genetic regional continuity in Northeastern Africa. Manni F, Leonardi P, Barakat A, Rouba H, Heyer E, Klintschar M, McElreavey K, Quintana-Murci L. Laboratoire dAnthropologie Biologique (CNRS FRE 2292); Musee de lHomme MNHN, Paris, France. The geographic location of Egypt, at the interface between North Africa, the Middle East, and southern Europe, prompted us to investigate the genetic diversity of
Among the many chromosomes in a mans body, the smallest one with the largest personality has to be the Y chromosome. With it, you are a male; without it, you are a female, with few exceptions. More than any other chromosome, it really defines who you are.. The Y chromosome controls other traits as well: hairy ears, tooth enamel, and stature to name a few. But for the longest time, the Y chromosome was also considered home to a lot of junk DNA that we thought had no purpose. We now know that much of this DNA has a purpose and that the Y is the home of many important male fertility genes.. Before its association with male fertility, the Y chromosome was widely considered a genetic black hole, a chromosome that evolved as a broken remnant of the X chromosome. We knew that the maleness gene was on the Y and a few other genes. However, since the Y chromosome has been fully undressed as a result of the human genome project, we now know that it is very unique, even special, and that it evolves in ...
The main function of the Y-chromosome is to regulate male fertility, including testes size, sperm count, sperm motility, and possibly also (perhaps indirectly) the bias towards more male or female offspring. Indeed a higher sperm count or motility has been associated with increased chances of fathering boys rather than girls. This may well explain the success of some Y-DNA haplogroups over others. Wars and conquests are not the answer to everything. If some lineages produce more boys, in a
We rarely use Wikipedia as a resource, but this overview on bone density is quite well done. As with any medical issue or question, please consult your physician. The Wikipedia entry is a general discussion of the topic. It is not specifically related to X and Y Chromosome Variations. For individuals who are 47,XXY, untreated hypogonadism can lead to osteoporosis and osteopenia. Most benefit from testosterone replacement therapy (TRT). Those who identify as intersex or choose not to use TRT should seek competent medical help for alternative methods to preserve bone density.. Read more ...
A group of researchers from the University of California, Berkeley discovered that in mammals, males are XY and tend to live shorter lives than XX females. This is due to the Y chromosome as its genetic elements tend to jump around causing mutations. The Y chromosome densely packs DNA, called heterochromatin, keeps these elements in check. It is the heterochromatin when it deteriorates as organism age. This eventually plays a role in how long individuals live. As compared to females the heterochromatin in the genome stayed steady as compared to males this densely packed DNA was greatly reduced. The team, later on, created flies with abnormal numbers of Y chromosomes, and as a result, the females carrying the Y chromosomes and males with an extra Y did not live as long their wild types equivalents. Similar genetics elements were seen in these flies as in selfish, the males with no Y chromosome lived a lot longer than normal XY males. Drosophila aging is an attractive topic that is drawing many ...
Definition of Y chromosome in the Financial Dictionary - by Free online English dictionary and encyclopedia. What is Y chromosome? Meaning of Y chromosome as a finance term. What does Y chromosome mean in finance?
Chimp and Human Y Chromosomes Evolving Faster Than Expected Wednesday, 13 January 2010 Contrary to a widely held scientific theory that the mammalian Y chromosome is slowly decaying or stagnating, new evidence suggests that in fact the Y is actually evolving quite rapidly through continuous, wholesale renovation. By conducting the first comprehensive interspecies comparison of Y chromosomes, Whitehead Institute researchers have found considerable differences in the genetic sequences of the human and chimpanzee Ys - an indication that these chromosomes have evolved more quickly than the rest of their respective genomes over the 6 million years since they emerged from a common ancestor. The findings are published online this week in the journal Nature. The region of the Y that is evolving the fastest is the part that plays a role in sperm production, say Jennifer Hughes, first author on the Nature paper and a postdoctoral researcher in Whitehead Institute Director David Pages lab. The rest of ...
The human Y chromosome began to evolve from an autosome hundreds of millions of years ago, acquiring a sex-determining function and undergoing a series of inversions that suppressed crossing over with the X chromosome1, 2. Little is known about the recent evolution of the Y chromosome because only the human Y chromosome has been fully sequenced. Prevailing theories hold that Y chromosomes evolve by gene loss, the pace of which slows over time, eventually leading to a paucity of genes, and stasis3, 4. These theories have been buttressed by partial sequence data from newly emergent plant and animal Y chromosomes5, 6, 7, 8, but they have not been tested in older, highly evolved Y chromosomes such as that of humans. Here we finished sequencing of the male-specific region of the Y chromosome (MSY) in our closest living relative, the chimpanzee, chieving levels of accuracy and completion previously reached for the human MSY. By comparing the MSYs of the two species we show that they differ radically ...
Only males have a Y chromosome, which is always inherited from their father. There are very few genes on the Y chromosome, but a crucial gene involved in determining biological sex - SRY - is found on this chromosome and not the X chromosome. It is possible for individuals to only have a single X chromosome - these individuals are biologically female as they lack the Y chromosome and the SRY gene that determines biological maleness. It is not possible for individuals to only have a Y chromosome as the X chromosome is essential to life and development. ...
A Y-STR is a short tandem repeat (STR) on the Y-chromosome. Y-STRs are often used in forensics, paternity, and genealogical DNA testing. Y-STRs are taken specifically from the male Y chromosome. These Y-STRs provide a weaker analysis than autosomal STRs because the Y chromosome is only found in males, which are only passed down by the father, making the Y chromosome in any paternal line practically identical. This causes a significantly smaller amount of distinction between Y-STR samples. Autosomal STRs provide a much stronger analytical power because of the random matching that occurs between pairs of chromosomes during the zygote making process. Y-STRs are assigned names by the HUGO gene nomenclature committee. Some testing companies have different formats for the way STR markers are written. For example, the marker DYS455 may be written as DYS455, DYS 455, DYS#455, or DYS# 455. The scientific standard accepted by HUGO and NIST is DYS455. DYS is a variation on the jargon used in human ...
An analysis of the genealogical and medical records of males in Utahs multi-generational families strongly supports the case that inherited variations in the Y chromosome, the male sex chromosome, play a role in the development of prostate cancer, according to a study presented on Friday, October 25, at the American Society of Human Genetics (ASHG) 2013 meeting in Boston. The study identified multiple, distinct Y chromosomes associated with a significant excess risk of prostate cancer, said Lisa Cannon-Albright, Ph.D., Professor and Chief of the Division of Genetic Epidemiology at the University of Utah School of Medicine. Dr. Cannon-Albright, who headed the study and presented the results, said that her lab plans to search these Y chromosomes for the genetic mutations that can predispose a man to develop prostate cancer, the second most frequently diagnosed cancer in the U.S. Because most of the Y chromosome does not recombine during cell division, it is passed virtually unchanged from father ...
Despite this, recent research has shown that the Y chromosome has developed some pretty convincing mechanisms to put the brakes on, slowing the rate of gene loss to a possible standstill.. For example, a recent Danish study, published in PLoS Genetics, sequenced portions of the Y chromosome from 62 different men and found that it is prone to large scale structural rearrangements allowing gene amplification - the acquisition of multiple copies of genes that promote healthy sperm function and mitigate gene loss.. The study also showed that the Y chromosome has developed unusual structures called palindromes (DNA sequences that read the same forwards as backwards - like the word kayak), which protect it from further degradation. They recorded a high rate of gene conversion events within the palindromic sequences on the Y chromosome - this is basically a copy and paste process that allows damaged genes to be repaired using an undamaged back-up copy as a template.. Looking to other ...
YRRM1 - Y Chromosome RNA Recognition Motif. Looking for abbreviations of YRRM1? It is Y Chromosome RNA Recognition Motif. Y Chromosome RNA Recognition Motif listed as YRRM1
TY - JOUR. T1 - Human Y-chromosome-specific reiterated DNA. AU - Kunkel, Louis M.. AU - Smith, Kirby D.. AU - Boyer, Samuel H.. PY - 1976/1/1. Y1 - 1976/1/1. N2 - Radiolabeled reiterated DNA specific for the human Y chromosome has been obtained by extensive reassociations between [3H]DNA prepared from men and excess DNA from women. These highly purified labeled sequences reassociate only with DNA from individuals with a Y chromosome. The percentage of Y-chromosome-specific DNA isolated from individuals with differing numbers of Y chromosomes is a function of the number of Y chromosomes present. The purified Y-chromosome-specific sequences may represent between 7 and 11 percent of the human Y chromosome.. AB - Radiolabeled reiterated DNA specific for the human Y chromosome has been obtained by extensive reassociations between [3H]DNA prepared from men and excess DNA from women. These highly purified labeled sequences reassociate only with DNA from individuals with a Y chromosome. The percentage ...
Silene latifolia has heteromorphic sex chromosomes, the X and Y chromosomes. The Y chromosome, which is thought to carry the male determining gene, was isolated by UV laser microdissection and amplified by degenerate oligonucleotide-primed PCR. In situ chromosome suppression of the amplified Y chromosome DNA in the presence of female genomic DNA as a competitor showed that the microdissected Y chromosome DNA did not specifically hybridize to the Y chromosome, but hybridized to all chromosomes. This result suggests that the Y chromosome does not contain Y chromosome-enriched repetitive sequences. A repetitive sequence in the microdissected Y chromosome, RMY1, was isolated while screening repetitive sequences in the amplified Y chromosome. Part of the nucleotide sequence shared a similarity to that of X-43.1, which was isolated from microdissected X chromosomes. Since fluorescence in situ hybridization analysis with RMY1 demonstrated that RMY1 was localized at the ends of the chromosome, RMY1 may ...
The most common variations involve a trisomy, which means three sex chromosomes instead of the typical two. Girls who are born with an extra X chromosome are referred to as having Triple X or Trisomy X. Boys who are born with an extra X chromosome have 47,XXY, also known as Klinefelter syndrome. And boys who are born with an extra Y chromosome have 47,XYY, occasionally referred to as Jacobs syndrome. In addition, there are a number of other X and/or Y conditions including 48 or 49 chromosomes. These include 48,XXXX, 48XXXY, 48XXYY and 48XYYY; and although increasingly rare, also 49XXXXX, 49XXXXY, 49XXXYY, 49XXYYY and 49XYYY. Some individuals may have two cell lines, which is called mosaicism, such as 46,XY/47,XXY.. ...
View more ,Objective: Understanding the origins of Aboriginal Australians is crucial in reconstructing the evolution and spread of Homo sapiens as evidence suggests they represent the descendants of the earliest group to leave Africa. This study analyzed a large sample of Y‐chromosomes to answer questions relating to the migration routes of their ancestors, the age of Y‐haplogroups, date of colonization, as well as the extent of male‐specific variation. Methods: Knowledge of Y‐chromosome variation among Aboriginal Australians is extremely limited. This study examined Y‐SNP and Y‐STR variation among 657 self‐declared Aboriginal males from locations across the continent. 17 Y‐STR loci and 47 Y‐SNPs spanning the Y‐chromosome phylogeny were typed in total. Results: The proportion of non‐indigenous Y‐chromosomes of assumed Eurasian origin was high, at 56%. Y lineages of indigenous Sahul origin belonged to haplogroups C‐M130*(xM8,M38,M217,M347) (1%), C‐M347 (19%), ...
Y chromosomes control essential male functions in many species, including sex determination and fertility. However, because of obstacles posed by repeat-rich heterochromatin, knowledge of Y chromosome sequences is limited to a handful of model organisms, constraining our understanding of Y biology across the tree of life. Here, we leverage long single-molecule sequencing to determine the content and structure of the nonrecombining Y chromosome of the primary African malaria mosquito, Anopheles gambiae We find that the An. gambiae Y consists almost entirely of a few massively amplified, tandemly arrayed repeats, some of which can recombine with similar repeats on the X chromosome. Sex-specific genome resequencing in a recent species radiation, the An. gambiae complex, revealed rapid sequence turnover within An. gambiae and among species. Exploiting 52 sex-specific An. gambiae RNA-Seq datasets representing all developmental stages, we identified a small repertoire of Y-linked genes that lack X ...
Anyone know of a RAT Y CHROMOSOME specific probe? Thanks in advance Abizar , -----Original Message----- , From: Angeline Martin-Studdard [mailto:[email protected]] , Sent: Monday, January 22, 2001 4:57 AM , To: [email protected] , Subject: mouse Y chromosome probe , , , Hi Dina, , , Ive been utilizing a mouse Y chromosome paint probe from Applied , Genetics (#BMPOY). I tested it on cell drop slides initially and , currently use it on paraffin embedded mouse brain tissue. Ive , only tested a few different fixation methods so far but hope to , make more progress with that in the near future. It works well , and Ive found I can get away with quite a bit less probe than , recommended. , , Let me know if you would like any more information. , Angeline , , Medical College of Georgia , Neurology , 1459 Laney-Walker Blvd , Augusta, GA 30912 , [email protected] , , , ,Date: 19 Jan 2001 15:21:31 -0600 , ,From: [email protected] , ,Subject: mouse Y chromosome ...
Writing in PLoS Genetics, Makova explains that by comparing the DNA of the X and Y chromosomes in eutherian mammals to the DNA of the non-sex chromosomes in the opossum and platypus, the researchers were able to go back in time to the point when the X and Y chromosomes were still swapping DNA, just like the non-sex chromosomes in the opossum and platypus. The scientists then were able to observe how the DNA of the X and Y chromosomes changed over time relative to the DNA of the non-sex chromosomes. Our research revealed that the Y-specific DNA began to evolve rapidly at the time that the DNA region split into two entities, while the X-specific DNA maintained the same evolutionary rate as the non-sex chromosomes, said Makova.. After determining that the Y chromosome has been evolving more rapidly and has been losing more genes as a result, they wanted to find out why the Y chromosome has not already disappeared entirely. Today, the human Y chromosome contains less than 200 genes, while the ...
Armenia has been little-studied genetically, even though it is situated in an important area with respect to theories of ancient Middle Eastern population
Does it change any of my conclusions in my chimp genome paper (sadly enough, the most popular thing Ive ever written)? Not really. On the one hand, this is yet another example of a part of the human genome that really does significantly differ from the chimp genome. I documented some of those in the article, including the size difference in the Y chromosomes. I concluded that these differences are quite minor features that are overwhelmed by the near-identity of the rest of the human and chimp genomes. In the case of the MSY, its important to keep in mind that the chimp MSY sequence reported by Hughes et al. is only 25.8 Mb. Thats slightly less than 1% of the entire genome. Given that fixed nucleotide differences between the human and chimp genomes are around 1%, having yet another 1% difference in the very different Y chromosomes doesnt make the genomes that much more different than they already were ...
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ABSTRACT: BACKGROUND: Retracing the genetic histories of the descendant populations of the Slave Trade (16th-19th centuries) is particularly challenging due to the diversity of African ethnic groups involved and the different hybridisation processes with Europeans and Amerindians, which have blurred their original genetic inheritances. The Noir Marron in French Guiana are the direct descendants of maroons who escaped from Dutch plantations in the current day Surinam. They represent an original ethnic group with a highly blended culture. Uniparental markers (mtDNA and NRY) coupled with HTLV-1 sequences (env and LTR) were studied to establish the genetic relationships linking them to African American and African populations. RESULTS: All genetic systems presented a high conservation of the African gene pool (African ancestry: mtDNA=99.3%; NRY=97.6%; HTLV-1 env=20/23; HTLV-1 LTR=6/8). Neither founder effect nor genetic drift was detected and the genetic diversity is within a range commonly observed in
The regions of the Caucasus, Anatolia, and the Near East represent an extremely important area with respect to ancient population migration and expansion, and the spread of the Caucasian, Indo-European, Afro-Asiatic, and Altaic languages. We examined genetic variation within and between 12 ethno-territorial populations belonging to four major language families by using six microsatellites, or short tandem repeats (STR) and 12 Unique Event Polymorphism (UEP) loci mapped to the non-recombining portion of the human Y-chromosome. The applied set of markers did not unconditionally support the language replacement hypothesis for the populations under consideration. Moreover, regarding the South Caucasus and Anatolia, our results showed greater genetic distances between the populations from different language families, and close genetic affinity for the populations from the same language group-in this case, for the Turkophone ethnic units. The results point to the importance of appropriate Y-chromosome
The evolution of human populations has long been studied with unique sequences from the nonrecombining, male-specific Y chromosome (see the Perspective by Cann). Poznik et al. (p. 562) examined 9.9 Mb of the Y chromosome from 69 men from nine globally divergent populations-identifying population and individual specific sequence variants that elucidate the evolution of the Y chromosome. Sequencing of maternally inherited mitochondrial DNA allowed comparison between the relative rates of evolution, which suggested that the coalescence, or origin, of the human Y chromosome and mitochondria both occurred approximately 120 thousand years ago. Francalacci et al. (p. 565) investigated the sequence divergence of 1204 Y chromosomes that were sampled within the isolated and genetically informative Sardinian population. The sequence analyses, along with archaeological records, were used to calibrate and increase the resolution of the human phylogenetic tree. ...
EasyDNA Australia offers Y chromosome testing. The Y Chromosome test is used to determine if males share the same paternal lineage. Order your DNA test today!
The Y chromosome is ane o twa sex chromosomes (allosomes) in mammals, includin humans, an mony ither ainimals. The ither is the X chromosome. Y is the sex-determinin chromosome in mony species, syne it is the presence or absence o Y that determines the male or female sex o offspring produced in sexual reproduction. In mammals, the Y chromosome contains the gene SRY, which causes testis development. ...
Over the 180 My since their origin, the sex chromosomes of mammals have evolved a gene repertoire highly specialized for function in the male germline. The mouse Y chromosome is unique among mammalian Y chromosomes characterized to date in that it is large, gene-rich and euchromatic. Yet, little is …
YCMD - Y-Chromosome Microdeletion. Looking for abbreviations of YCMD? It is Y-Chromosome Microdeletion. Y-Chromosome Microdeletion listed as YCMD
MSY1 is the only hypervariable minisatellite on the human Y chromosome. Arrays contain 22-114 AT-rich repeat units of 25bp in length, of which eighteen different sequence-variant types have been identified. MSY1 maintains ,99% virtual heterozygosity despite the absence of interallelic processes on the haploid and non-recombining Y chromosome. This thesis aimed to determine the types and rates of mutation events that were occurring at MSY1. Single-molecule analysis was used to analyse mutation in the sperm and blood DNA of a single donor. Sperm mutation rate was 2.6%, and mutants were small-scale length changes and isometric mutations that alter the internal structure of arrays but not array length. Overall mutation rate in blood was similar (1.8%), but the spectrum of mutation types was markedly different, suggesting that somatic and germline mutation processes are distinct. Analysis of MSY1 diversity in the framework of the Y phylogeny defined by binary markers allowed inferences to be made ...
Submitted on 19 Dec 2014) House of Aisin Gioro is the imperial family of the last dynasty in Chinese history - Qing Dynasty (1644 - 1911). Aisin Gioro family originated from Jurchen tribes and developed the Manchu people before they conquered China. By investigating the Y chromosomal short tandem repeats (STRs) of 7 modern male individuals who claim belonging to Aisin Gioro family (in which 3 have full records of pedigree), we found that 3 of them (in which 2 keep full pedigree, whose most recent common ancestor is Nurgaci) shows very close relationship (1 - 2 steps of difference in 17 STR) and the haplotype is rare. We therefore conclude that this haplotype is the Y chromosome of the House of Aisin Gioro. Further tests of single nucleotide polymorphisms (SNPs) indicates that they belong to Haplogroup C3b2b1*-M401(xF5483), although their Y-STR results are distant to the star cluster, which also belongs to the same haplogroup. This study forms the base for the pedigree research of the imperial ...
Networks of STR haplotypes based on penta- and hexanucleotide STRs, with and without SNPs.Median joining networks of Y chromosome STR haplotypes with balanced s
"The DNA sequence of the human X chromosome". Nature. 434 (7031): 325-37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.. ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... 1997). "SSX: a multigene family with several members transcribed in normal testis and human cancer". Int. J. Cancer. 72 (6): ... Protein SSX4 is a protein that in humans is encoded by the SSX4 gene.[5] ...
"Chromosome abnormalities". Human Molecular Genetics (2nd ed.). New York: Wiley-Liss. ISBN 1-85996-202-5. PMID 21089233.. [page ... "Human Molecular Genetics (2nd ed.). New York: Wiley-Liss. ISBN 1-85996-202-5. PMID 21089233.. [page needed] ... called 46/47 XY/XXY mosaic wherein some of the patient's cells contain XY chromosomes, and some contain XXY chromosomes. The 46 ... "American Journal of Human Genetics. 90 (3): 426-433. doi:10.1016/j.ajhg.2012.01.004. PMC 3309184 . PMID 22341970.. ...
Degen SJ, Davie EW (1987). "Nucleotide sequence of the gene for human prothrombin". Biochemistry. 26 (19): 6165-77. doi:10.1021 ... SNPs on chromosome 11. *Coagulopathies. Hidden categories: *CS1: long volume value. *All articles lacking reliable references ...
Chromosomes are tiny packages which contain one DNA molecule and its associated proteins. Humans have 46 chromosomes (23 pairs ... There are about 3.2 billion nucleotide pairs on all the human chromosomes: this is the human genome. The order of the ... Humans have two copies of each of their genes, and make copies that are found in eggs or sperm-but they only include one copy ... Chromosome. A package for carrying DNA in the cells. They contain a single long piece of DNA that is wound up and bunched ...
As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ... For example, Emmer wheat has the AABB chromosome sets (28 total chromosomes) from Triticum monococcum (AA, 14 chromosomes) and ... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ...
"The American Journal of Human Genetics. 82 (1): 194-198. doi:10.1016/j.ajhg.2007.09.010. PMC 2253960. PMID 18179899.. ... Assessing Y-chromosome Variation in the South Pacific Using Newly Detected, By Krista Erin Latham [1] Archived 2015-07-13 at ... The origins of the Polynesian people are addressed in the theories regarding human migration into the Pacific, which began ... "Climate Change and Postglacial Human Dispersals in Southeast Asia". Oxford Journals. Retrieved 1 January 2010.. ...
Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. ... In the wake of the establishment of the normal number of human chromosomes, 47,XYY was the last of the common sex chromosome ... This tall (that chromosome), intelligent (that chromosome again), functionally nonviolent (that chromosome still again) fellow ... ISBN 1-4051-9087-6. The addition of a Y chromosome to a normal male chromosome constitution does not produce a discernible ...
... the largest human chromosome, for example, is about 247 million base pairs in length.[50] The DNA of a chromosome is associated ... while the X chromosome is similar to the other chromosomes and contains many genes. The X and Y chromosomes form a strongly ... Many species have so-called sex chromosomes that determine the gender of each organism.[52] In humans and many other animals, ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ...
By contrast, gametes of diploid organisms contain only half as many chromosomes. In humans, this is 23 unpaired chromosomes. ... Genetics and chromosome content[edit]. Like all cells, somatic cells contain DNA arranged in chromosomes. If a somatic cell ... For example, in humans, somatic cells contain 46 chromosomes organized into 23 pairs. ... Due to the fusion of the two gametes, a human zygote contains 46 chromosomes (i.e. 23 pairs). ...
Structural maintenance of chromosomes protein 1A (SMC1A) is a protein that in humans is encoded by the SMC1A gene.[5][6] SMC1A ... chromosome. • nucleoplasm. • condensed nuclear chromosome. • chromosome, centromeric region. • cell nucleus. • kinetochore. • ... chromosome condensation and chromosome segregation from bacteria to humans. [7] ... February 1995). "The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ... December 1993). "Human leukocyte antigen A1-B8-DR3-DQ2-DPB1*0401 extended haplotype in autoimmune hepatitis". Hepatology. 18 (6 ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene.[5] Presenilin-1 is one of the four ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ... A study of broad range gene expression was conducted on human malignant melanoma. Researchers classified the malignant melanoma ...
1999). "Assignment of human filamin gene FLNB to human chromosome band 3p14.3 and identification of YACs containing the ... Filamin B, beta (FLNB), also known as Filamin B, beta (actin binding protein 278), is a cytoplasmic protein which in humans is ... Takafuta, T; Wu G; Murphy G F; Shapiro S S (Jul 1998). "Human beta-filamin is a new protein that interacts with the cytoplasmic ... 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40-5. doi:10.1038/ ...
Genes on human chromosome 1. Hidden categories: *CS1 Chinese-language sources (zh) ... Fonatsch C, Latza U, Dürkop H, Rieder H, Stein H (Nov 1992). "Assignment of the human CD30 (Ki-1) gene to 1p36". Genomics. 14 ( ... Human TNFRSF8 genome location and TNFRSF8 gene details page in the UCSC Genome Browser. ... Schneider C, Hübinger G (Jul 2002). "Pleiotropic signal transduction mediated by human CD30: a member of the tumor necrosis ...
Genes on human chromosome X. Hidden categories: *Use dmy dates from July 2011 ...
C-jun-amino-terminal kinase-interacting protein 1 is an enzyme that in humans is encoded by the MAPK8IP1 gene.[5][6] ... 1999). "Genomic organization, fine-mapping, and expression of the human islet-brain 1 (IB1)/c-Jun -amino-terminal kinase ... "The Transcriptional Repressor REST Determines the Cell-Specific Expression of the Human MAPK8IP1 Gene Encoding IB1 (JIP-1)". ...
... s & Humans: The Evolution of Human-Equine Relationships. Oxford, UK: Archaeopress. pp. 81-113. ISBN 978-1-84171-990-0.. ... Horses have 64 chromosomes.[37] The horse genome was sequenced in 2007. It contains 2.7 billion DNA base pairs,[38] which is ... Horses are not ruminants, they have only one stomach, like humans, but unlike humans, they can utilize cellulose, a major ... Worldwide, horses play a role within human cultures and have done so for millennia. The genetic makeup of the human population ...
2odb: The crystal structure of human cdc42 in complex with the CRIB domain of human p21-activated kinase 6 (PAK6) ... "Human PubMed Reference:".. *^ Qadir MI, Parveen A, Ali M (October 2015). "Cdc42: Role in Cancer Management". Chemical Biology ... Human Cdc42 is a small GTPase of the Rho family, which regulates signaling pathways that control diverse cellular functions ... Human CDC42 genome location and CDC42 gene details page in the UCSC Genome Browser. ...
... maps to human chromosome 5 at band q21 and to mouse chromosome 17". Genomics. 35 (2): 376-9. doi:10.1006/geno.1996.0371. PMID ... Ephrin A5 is a protein that in humans is encoded by the EFNA5 gene.[5][6][7] ...
... on human chromosome 15 at q26) or VIPAS39 (on chromosome 14 at q34); the autosomal dominant disease of GFI1B-related syndrome ... The human GATA1 gene is located on the short (i.e. "p") arm of the X chromosome at position 11.23. It is 7.74 kilobases in ... In humans and mice, it is encoded by the GATA1 and Gata1 genes, respectively. These genes are located on the X chromosome in ... The syndrome is commonly considered to result solely from mutations in the NBEAL2 gene located on human chromosome 3 at ...
X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene.[5][6][7] ... "Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests". Proceedings of the ... "American Journal of Human Genetics. 61 (3): 571-80. doi:10.1086/515523. PMC 1715956. PMID 9326322.. ... "American Journal of Human Genetics. 61 (6): 1287-92. doi:10.1086/301646. PMC 1716085. PMID 9399904.. ...
"Localisation of the human gene encoding the cytoskeletal protein talin to chromosome 9p". Human Genetics. 96 (2): 221-4. doi: ... Talin-1 is a protein that in humans is encoded by the TLN1 gene.[5][6] Talin-1 is ubiquitously expressed, and is localized to ... Human talin-1 is 270.0 kDa molecular weight and 2541 amino acids.[7] The N-terminal region of talin-1 is ~50 kDa in size and ... "Protein sequence of human TLN1 (Uniprot ID: Q9Y490)". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Retrieved 7 July ...
Genes on human chromosome 5. Hidden categories: *CS1 maint: Multiple names: authors list ... Growth hormone receptor is a protein that in humans is encoded by the GHR gene.[5] GHR orthologs [6] have been identified in ... 3hhr: HUMAN GROWTH HORMONE AND EXTRACELLULAR DOMAIN OF ITS RECEPTOR: CRYSTAL STRUCTURE OF THE COMPLEX ... 1kf9: PHAGE DISPLAY DERIVED VARIANT OF HUMAN GROWTH HORMONE COMPLEXED WITH TWO COPIES OF THE EXTRACELLULAR DOMAIN OF ITS ...
SHC-transforming protein 1 is a protein that in humans is encoded by the SHC1 gene.[5] SHC has been found to be important in ... The gene SHC1 is located on chromosome 1 and encodes 3 main protein isoforms: p66SHC, p52SHC and p46SHC. These proteins differ ... "Variation in the SHC1 gene and longevity in humans". Experimental Gerontology. 39 (2): 263-8. doi:10.1016/j.exger.2003.10.001. ...
December 2002). "DOCK2 associates with CrkL and regulates Rac1 in human leukemia cell lines". Blood. 100 (12): 3968-74. doi: ... November 1999). "Non-adherent cell-specific expression of DOCK2, a member of the human CDM-family proteins". Biochim. Biophys. ... 2007). "DOCK2 is required for chemokine-promoted human T lymphocyte adhesion under shear stress mediated by the integrin ... "DOCK2 associates with CrkL and regulates Rac1 in human leukemia cell lines". Blood. 100 (12): 3968-74. doi:10.1182/blood-2001- ...
2001). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ... Destrin or DSTN (also known as actin depolymerizing factor or ADF) is a protein which in humans is encoded by the DSTN gene.[2] ... Human gene pages with Wikidata item. *Wikipedia articles incorporating text from the United States National Library of Medicine ... Hawkins M, Pope B, Maciver SK, Weeds AG (September 1993). "Human actin depolymerizing factor mediates a pH-sensitive ...
... cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1". ... Human ACADM genome location and ACADM gene details page in the UCSC Genome Browser. ... The ACADM gene is located on the short (p) arm of chromosome 1 at position 31, from base pair 75,902,302 to base pair ... Wang SS, Fernhoff PM, Hannon WH, Khoury MJ (1999). "Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology ...
Genes on human chromosome 18. Hidden categories: *Protein pages needing a picture ... Mucosa-associated lymphoid tissue lymphoma translocation protein 1 is a protein that in humans is encoded by the MALT1 gene.[5] ... 2g7r: X-ray structure of the death domain of the human mucosa associated lymphoid tissue lymphoma translocation protein 1 ... has been shown to be cut by paracaspase in Human and in mouse. Cells expressing an uncleavable A20 mutant is however still ...
"Human Y-Chromosome Variation in the Western Mediterranean Area: Implications for the Peopling of the Region" (PDF). Human ... a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187-91. doi:10.1002/humu.22468. PMID ... Haplogroup R1a, or haplogroup R-M420, is a human Y-chromosome DNA haplogroup which is distributed in a large region in Eurasia ... Y Chromosome Consortium "YCC" (2002). "A Nomenclature System for the Tree of Human Y-Chromosomal Binary Haplogroups". Genome ...
2ov2: The crystal structure of the human RAC3 in complex with the CRIB domain of human p21-activated kinase 4 (PAK4) ... Rac1, also known as Ras-related C3 botulinum toxin substrate 1, is a protein found in human cells. It is encoded by the RAC1 ... "The American Journal of Human Genetics. 101 (3): 466-477. doi:10.1016/j.ajhg.2017.08.007. PMC 5591022. PMID 28886345.. ... Seoh ML, Ng CH, Yong J, Lim L, Leung T (Mar 2003). "ArhGAP15, a novel human RacGAP protein with GTPase binding property". FEBS ...
Human chromosome 2 resulted from a fusion of two ancestral chromosomes that remained separate in the chimpanzee lineage. " The ... Mitochondrial DNA and human history. The Human Genome. 2003-10-09 [2006-09-19]. (原始内容存档于2015-09-07) (英语).. ... 大多數人類基因擁有許多的外顯子,且人類的內含子比位在其兩端的外顯子更長。這些基因參差不齊地分佈在染色體中,每一個染色體皆含
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
Lamin A/C gene and a related sequence map to human chromosomes 1q12.1-q23 and 10. Somat. Cell Mol. Genet. March 1993, 19 (2): ... Human laminopathies: nuclei gone genetically awry. Nat. Rev. Genet. December 2006, 7 (12): 940-52. PMID 17139325. doi:10.1038/ ... Life at the edge: the nuclear envelope and human disease. Nat. Rev. Mol. Cell Biol. 2002, 3 (8): 575-85. PMID 12154369. doi: ... The strange case of the "lumper" lamin A/C gene and human premature ageing. Trends in molecular medicine. 2004, 9 (9): 370-5. ...
A QTL for osteoporosis on the human chromosome 20. QTL mapping[edit]. ... "Human Genetics for 1st Year Students: Multifactorial Inheritance". Retrieved 6 January 2007.. ... An example of a polygenic trait is human skin color variation. Several genes factor into determining a person's natural skin ... However, due to some advantages, now plant geneticists are attempting to incorporate some of the methods pioneered in human ...
In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of Iraq - - ... Human rights *in pre-Saddam Iraq. *in Saddam Hussein's Iraq. *in post-invasion Iraq *in ISIL-controlled territory ...
... and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11". ... 1989). "Expression of biologically active human follitropin in Chinese hamster ovary cells". J. Biol. Chem. 264 (9): 4769-75. ... 1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nat. Genet. 22 (3): 231-8. PMID ... Fox KM، Dias JA، Van Roey P (2001). "Three-dimensional structure of human follicle-stimulating hormone". Mol. Endocrinol. 15 (3 ...
The institute is also the first develop a test to detect chromosome translocations in human embryos to increase the success ... Human cloning is a long way off, but bioengineered kids are already here, Washington Monthly, March 2002 - accessed July 11, ... issues in this field including a possibility that a child may have genes from more than two adults and the usage of human ...
For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... As a significant human pathogenic bacterium S. pneumoniae was recognized as a major cause of pneumonia in the late 19th century ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ... "A fatal form of septicaemia in the rabbit produced by the subcutaneous injection of human saliva. An experimental research". ...
MN1 is a gene found on human chromosome 22, with gene map locus 22q12.3-qter.[5] Its official full name is meningioma ( ... 2008). "Toward a confocal subcellular atlas of the human proteome". Mol. Cell. Proteomics. 7 (3): 499-508. doi:10.1074/mcp. ... a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma". Oncogene. 10 (8): 1521-8. PMID ... "MN1, a novel player in human AML". Blood Cells Mol. Dis. 39 (3): 336-9. doi:10.1016/j.bcmd.2007.06.009. PMC 2387274. PMID ...
O'Donovan (1999). „Physical mapping of the CXC chemokine locus on human chromosome 4.". Cytogenet. Cell Genet. 84: 39-42. PMID ... Angiolillo (1995). „Human interferon-inducible protein 10 is a potent inhibitor of angiogenesis in vivo". J. Exp. Med. 182: 155 ...
McLean PJ, Farb DH, Russek SJ (Aug 1995). "Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4 defines an alpha ... Gamma-aminobutyric acid receptor subunit alpha-4 is a protein that in humans is encoded by the GABRA4 gene.[5][6] ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... 2000). "Human genome search in celiac disease using gliadin cDNA as probe". J. Mol. Biol. 300 (5): 1155-1167. doi:10.1006/jmbi. ...
It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA).[21] ... creating daughter cpDNA chromosomes. In addition to the early ... "Circular chloroplast chromosomes: the grand illusion". The Plant Cell. 16 (7): 1661-6. doi:10.1105/tpc.160771. PMC 514151 ... "Circular chloroplast chromosomes: the grand illusion". The Plant Cell. 16 (7): 1661-6. doi:10.1105/tpc.160771. PMC 514151 ...
They argue that this is an issue with respect to the human right to water and sanitation and also from the perspective of the ... chromosomes and anatomy' at birth.[32] ... "Public Hygiene Lets Us Stay Human (PHLUSH). Retrieved June 22, ... The Human Rights Campaign, an LGBTQ advocacy group, recommends that employers grant access, and use, to public toilets ... Human Rights Campaign. "Restroom Access for Transgender Employees." Retrieved from "Restroom Access for Transgender Employees" ...
One research team found a correlation in male fruit flies and discussed it as a possibility in other species, even humans.[35] ... chromosome localization, and functional expression of cDNA clones". Biochemistry. 30 (44): 10640-6. doi:10.1021/bi00108a006. ... Palma C, Maggi CA (2000). "The role of tachykinins via NK1 receptors in progression of human gliomas". Life Sciences. 67 (9): ... Gerard NP, Garraway LA, Eddy RL, Shows TB, Iijima H, Paquet JL, Gerard C (Nov 1991). "Human substance P receptor (NK-1): ...
This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it. *v ... Apolipoprotein C-IV, also known as apolipoprotein C4, is a protein that in humans is encoded by the APOC4 gene.[5][6] ... Human APOC4 genome location and APOC4 gene details page in the UCSC Genome Browser. ... 2002). "Regulated expression of the apolipoprotein E/C-I/C-IV/C-II gene cluster in murine and human macrophages. A critical ...
When a human is conceived, it gets 23 chromosomes from its mother and 23 from its father. If it does not get the right number ... For example, Down syndrome happens when there are three copies of chromosome #21. (Usually people have 2 of every chromosome.) ... This developing human is called an embryo for the first eight weeks of the pregnancy, and fetus for the rest of the pregnancy. ... Humans can also chose to end the pregnancy before birth takes place. This is called an induced abortion. Often, the term ...
... in males with normal chromosomes because they have only one X chromosome and few of the same genes are on the Y chromosome. ... Human Molecular Genetics, 2nd edition by Tom Strachan and Andrew P. Read Chapter 17. (1999). ... A chromosome in a diploid organism is hemizygous when only one copy is present.[2] The cell or organism is called a hemizygote ... Most eukaryotes have two matching sets of chromosomes; that is, they are diploid. Diploid organisms have the same loci on each ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... PAX8+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) ...
"Is the human race evolving or devolving?". Scientific American. From a biological perspective, there is no such thing as ...
During mammalian development, the gonads are at first capable of becoming either ovaries or testes.[5] In humans, starting at ... In males, certain Y chromosome genes, particularly SRY, control development of the male phenotype, including conversion of the ... Before the production of the pituitary hormone luteinizing hormone (LH) by the embryo starting at about weeks 11-12, human ... Häggström, Mikael; Richfield, David (2014). "Diagram of the pathways of human steroidogenesis". WikiJournal of Medicine. 1 (1 ...
These tumors show a high frequency of co-deletions of the p and q arms of chromosome 1 and chromosome 19 respectively (1p19q co ... Human brains are surrounded by a system of connective tissue membranes called meninges that separate the brain from the skull. ... The brains of humans and other vertebrates are composed of very soft tissue and have a gelatin-like texture. Living brain ... "IARC classifies radiofrequency electromagnetic fields as possibly carcinogenic to humans" (PDF). World Health Organization ...
Because RPS6KA3 is located on the X chromosome, males (who possess only one copy of the X chromosome) display more severe ... "Coffin-Lowry syndrome". European Journal of Human Genetics 18, 627-633 (2010). doi:10.1038/ejhg.2009.189 ... The syndrome is caused by mutations in the RPS6KA3 gene.[1] This gene is located on the short arm of the X chromosome (Xp22.2 ... A condition is considered X-linked if the gene that causes the disorder is located on the X chromosome (one of the two sex ...
In humans, PR is encoded by a single PGR gene residing on chromosome 11q22,[5][6][7] it has two isoforms, PR-A and PR-B, that ... "The progesterone receptor gene maps to human chromosome band 11q13, the site of the mammary oncogene int-2". Proceedings of the ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... The single-copy human (hPR) gene uses separate promoters and translational start sites to produce two isoforms, hPR-A and -B, ...
It is encoded in humans by the SERPINA1 gene. A protease inhibitor, it is also known as alpha1-proteinase inhibitor (A1PI) or ... Another name used is alpha-1 proteinase inhibitor (α1-PI). The gene is located on the long arm of the fourteenth chromosome ( ... The US FDA has approved the use of four alpha-1 antitrypsin products derived from a human plasma: Prolastin, Zemaira, Glassia, ... All three products showed minor differences compared to the normal human plasma A1AT, and are introduced during the specific ...
"American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
Deletion in the 22q11.2 region of chromosome 22 has been associated with schizophrenia and autism.[22][23] Schizophrenia and ... An example of pleiotropy is phenylketonuria, an inherited disorder that affects the level of phenylalanine in the human body. ... The disease is caused by a defect in a single gene on chromosome 12 that codes for enzyme phenylalanine hydroxylase , that ... Pleiotropy not only affects humans, but also animals, such as chickens and laboratory house mice, where the mice have the "mini ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ... Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or ...
The amelogenin gene has been most widely studied in humans, where it is a single copy gene, located on the X and Y chromosomes ... Differences between the X chromosome and Y chromosome versions of the amelogenin gene (AMELX and AMELY respectively) enable it ... The amelogenin gene's location on sex chromosomes has implications for variability both between the X chromosome form (AMELX) ... Nakahori Y, Takenaka O, Nakagome Y (1991). "A human X-Y homologous region encodes "amelogenin"". Genomics. 9 (2): 264-9. doi: ...
"The DNA sequence of human chromosome 22". Nature 402 (402). ISSN 0028-0836, págs. 489-495.. ... Human Genome Project (2003). "International Consortium Completes Human Genome Project". Human Genome Project Information (en ... U. S. Human Genome Project (2008). Office of Science - U. S. Dpt. of Energy, ed. "Major Events in the U.S. Human Genome Project ... National Human Genome Research Istitute - NHGRI (NIH) (2004). "Scientists Compare Rat Genome With Human, Mouse" (en inglés). ...
The explosion of information on human genetic diseases has meant that there is a greater need than ever for students, ... This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. ... This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. The ... "Each word "tells" in this concise gem of a human cytogenetics text...Superb organization makes this an excellent text...for any ...
10 SN: Real benefits of virtual therapy, monkey malaria in humans, round electrons disappoint, mouse pups with two dads, bats ...
3. Encourage students to invert a chimp chromosome and place it next to the corresponding human chromosome, alining their ... Human Evolution Patterns. SEE "Chromosome Connections: Compelling Clues to Common Ancestry". Article by Larry Flammer published ... CHROMOSOME FUSION. This is a logical extension of any chromosome comparison lab. Students test the hypothesis that our ... and less on the details of chromosome analysis, and also involves students in doing a chromosome by chromosome matching by ...
... chimp chromosome 2 and an extra chromosome that does not match any other human chromosome). Second, a chromosome normally has ... While great apes all have 48 chromosomes (24 pairs), humans have only 46 (23 pairs). If humans and apes shared a common ... First, the banding (or dye pattern) of human chromosome 2 closely matches that of two separate chromosomes found in apes ( ... it explains that humans have one fewer chromosome pair in their cells than apes, due to a mutation found in chromosome number 2 ...
Human chromosome 11 DNA sequence and analysis including novel gene identification. Free access. Todd D. Taylor et al. ... Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Christine Gicquel et al. ...
Human Genome Collection. Chromosome x. The X chromosome both unites and divides the sexes: everyone has it, but whereas men ... A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Brown, C.J. ... The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X Bentley, D. R. et al. ... The DNA sequence of the human X chromosome. Ross, M.T. et al. ... Characterization of the human factor VIII gene. Gitschier, J. ...
... human chromosome (en) 10. kromozom (tr); Chromosome 10 (human), Chromosome 10 (tl); chr10, kromosom 10 (nn); chr10 (nb); ... Media in category "Human chromosome 10". The following 30 files are in this category, out of 30 total. ... Human chromosome 10 with ASD genes from IJMS-16-06464.png 606 × 1,510; 183 KB. ... Human chromosome 10 from Gene Gateway - with label.png 1,439 × 1,654; 102 KB. ...
Media in category "Human chromosome 3". The following 32 files are in this category, out of 32 total. ... Human chromosome 03 with ASD genes from IJMS-16-06464.png 949 × 2,233; 498 KB. ... Human chromosome 03 from Gene Gateway - with label.png 1,302 × 1,919; 350 KB. ... 24-Color 3D FISH Representation and Classification of Chromosomes in a Human G0 Fibroblast Nucleus 10.1371 journal.pbio.0030157 ...
Researchers have genetically engineered cows to produce human antibodies against the deadly hantavirus and possibly other ... Creating human antibodies in an animal model is no small feat. Scientists combined parts of human chromosome 14 and human ... Cows with human chromosomes enlisted to fight hantavirus. By David Shultz. Nov. 26, 2014 , 2:00 PM. ... The work is preliminary and needs to be tested in people, but the team calls it a "proof-of-concept" that human antibodies can ...
A study led by Indiana University is the first to reveal key similarities between chromosomes in humans and archaea. The work ... Key similarities discovered between human and archaea chromosomes Discovery from Indiana University could advance use of single ... The similar clustering of DNA in humans and archaeal chromosomes is significant because certain genes activate or deactivate ... "It looked just like what has been seen with human DNA.". The study is also the first to describe the protein used to assemble ...
... and human chromosome 2 represents a fusion of two acrocentric chromosomes present in chimpanzees (chromosomes 12 and 13) and ... Remarkably, the KA/KS ratios are also 1.41 times greater for rearranged chromosomes than for colinear chromosomes in humans ( ... Of 89 chromosomes with KA/KS ratios ≤1, 39 (43.8%) are on rearranged chromosomes, and 50 are on colinear chromosomes. The ... Table 6 shows that genes in rearranged chromosomes 4, 5, and 9, as well as in colinear chromosome 22, have human expression ...
The beginning of interphase cytogenetics can be attributed to significant advances in human molecular genetics and cytogenetics ... In Human Interphase Chromosomes, the editors have provided an overview of current developments in the study of human interphase ... Chromosome Architecture Studied by High-Resolution FISH Banding in Three Dimensionally Preserved Human Interphase Nuclei ... As a result, new opportunities have emerged for analysis of human interphase chromosomes in almost all cell types and states at ...
structural maintenance of chromosomes protein 4. Names. SMC protein 4. SMC4 structural maintenance of chromosomes 4-like 1. ... SMC4 structural maintenance of chromosomes 4 [ Homo sapiens (human) ] Gene ID: 10051, updated on 10-May-2020 ... Title: Structural Basis for Dimer Formation of Human Condensin Structural Maintenance of Chromosome Proteins and Its ... Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- ...
A jewellery collection created from the shape of human chromosomes. 3D prints made from microscopy data. ... Louise Hughes is raising funds for Human Chromosome Jewellery Collection on Kickstarter! ... One of these pairs forms the chromosomes that determine our sex, the X and Y chromosomes. Two x chromosomes, XX, gives rise to ... Karyotype 1 has the chromosomes arranged with two xx chromosomes and one y chromosome in the middle, followed by all the other ...
... evolutionists claim that two chimp chromosomes fused to become one, but the power of the evolutionary paradigm trumps other ... "Because the fused chromosome is unique to humans and is fixed, the fusion must have occurred after the human-chimpanzee split, ... Humans have 23 chromosome pairs, as we inherit 23 chromosomes from our father and 23 from our mother. Chimps inherit 24 ... The whole idea that two chromosomes from a primate ancestor fused together to form the single human chromosome; falls down when ...
Researchers describe a new way to form an essential part of the artificial chromosome, called the centromere, by bypassing the ... Human artificial chromosome (HAC, green) with two sister centromeres (red), similar to that of the natural host chromosomes ( ... Without it, whole chromosomes can be lost during cell division. For cell replication to occur, human centromeres are not simply ... Penn biochemists streamline construction method for human artificial chromosomes Bypassing the Need for DNA from the centromere ...
Study of Chromosomes in Human Leukaemia by a Direct Method Br Med J 1961; 2 :1052 ... Study of Chromosomes in Human Leukaemia by a Direct Method. Br Med J 1961; 2 doi: ( ...
... Nature. 2002 Aug 29;418(6901):994-8. doi: 10.1038/ ... Here, we report the isolation of a human ISWI (SNF2h)-containing chromatin remodelling complex that encompasses components of ... also requires access to the nucleosomal DNA to perform its function in chromosome segregation. The machineries that provide ... binding sites by chromatin immunoprecipitation experiments reveals the specific association of these three proteins with human ...
Chromosome 21 is the smallest human autosome. An extra copy of chromosome 21 causes Down syndrome, the most frequent genetic ... The DNA sequence of human chromosome 21.. Hattori M1, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, ... Here we report the sequence and gene catalogue of the long arm of chromosome 21. We have sequenced 33,546,361 base pairs (bp) ... Analysis of the chromosome revealed 127 known genes, 98 predicted genes and 59 pseudogenes. ...
So, the human Y chromosome looks just as different from a chimp as the other human chromosomes do from a chicken. And to ... the human and chimp Y chromosomes were constructed entirely differently. On the human Y chromosome, there were found four major ... male-specific Y chromosome].1 As far as looking at specific genes, the chimp and human Y chromosomes had a dramatic difference ... New Chromosome Research Undermines Human-Chimp Similarity Claims. Institution for Creation Research ^ , Apr 1, 2010 , Jeffrey ...
Human Chromosome 11 Blast Server. Find out more about wu-blast Retrieve result for BLAST job id:. ... Unfinished human genomic sequence. Unfinished sequence contigs over a 1000 bases.. CpG island sequences. Sequence data from the ... Finished human genomic sequence. Sequence submitted to the EMBL database and all unsubmitted finished sequence.. ... This Blast server searches our DNA database containing all human sequence data available from the Sanger Institute. ...
Localization of Sister Chromatid Exchanges in Human Chromosomes Message Subject. (Your Name) has forwarded a page to you from ... The frequency of sister chromatid exchanges among chromosomes correlates with chromosome length. Exchanges appear to occur ... of 33258 Hoechst fluorescence allows microfluorometric analysis of sister chromatid exchanges in human metaphase chromosomes. ... 1Department of Pediatrics and Center for Human Genetics, Harvard Medical School, Clinical Genetics Division, Childrens ...
Fact sheet that explains what a chromosome is and what it does; centromeres and telomeres; the number of chromosomes humans ... How many chromosomes do humans have?. Humans have 23 pairs of chromosomes, for a total of 46 chromosomes. ... How are chromosomes inherited?. In humans and most other complex organisms, one copy of each chromosome is inherited from the ... Chromosomes vary in number and shape among living things. Most bacteria have one or two circular chromosomes. Humans, along ...
Scientists have completed the DNA sequence of a chimpanzee chromosome and lined it up side by side the DNA sequence of its ... RIKEN had sequenced human chromosome 21 in 2000 as part of the Human Genome Project. ... More than 98 percent of the DNA on chimp chromosome 22 is present on human chromosome 21. ... Scientists in Japan have completed the DNA sequence of a chimpanzee chromosome and lined it up alongside its human counterpart ...
... resulting in a total of 46 chromosomes. These chromosomes determine individual genetics traits as well as a persons gender.... ... Humans typically have 23 pairs of chromosomes, resulting in a total of 46 chromosomes. These chromosomes determine individual ... How many chromosomes are shown in a normal human karyotype?. A: A normal human karyotype typically contains 23 pairs of ... Humans born with both an X and Y chromosome are male, and those born with two X chromosomes are female. An imbalance in the ...
This is the very first version of the Home page for The Human Chromosome 14 Annotation. We plan to improve and update it ... This is the entry point for the updated data for the Human Chromosome 14 Annotation, published as an Advanced Online ... The other participating groups in the Chromosome 14 Project include the Institute for Systems Biology (Seattle, Washington, USA ...
Be the first to comment on "human-chromosomes". Leave a comment Cancel reply. Email address is optional. If provided, your ... Researchers Use Human Stem Cells to Create Model of the Human Kidney Glomerulus ... MIT Biological Engineers Program Human Cells to Store Complex Histories in Their DNA ... Voyager May Become the First Human-Made Object to Enter Interstellar Space ...
... researchers discuss the latest research on why many human oocytes frequently have a wrong number of chromosomes -- which may ... Ideally, eggs are packaged with a complete set of 23 chromosomes, but the process is prone to error, especially with age. In a ... human oocytes begin to divide into what will become mature eggs. ... How human eggs end up with the wrong number of chromosomes Cell ... Human oocytes pack the mothers DNA into 46 chromosomes. When they divide into eggs--a process called meiosis--these 46 ...
... healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields ... Chromosome translocations in peripheral blood lymphocytes of normal, ... Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of ... The significant effect of cigarette smoking has not been observed with previous pooled studies of TF in humans. Our data ...
Human Chromosome Jewelry Collection is easily one of the geekiest, if not the geekiest, jewelry sets ever made. Electron ... Human Chromosome Jewelry Collection is easily one of the geekiest, if not the geekiest, jewelry sets ever made. Electron ... The Human Chromosome Jewelry Collection is Inspired by DNA. Michael Hines - February 3, 2014 - Tech ... In addition to creating the Human Chromosome Jewelry Collection, Hughes has also made microscopy art and even a calendar that ...
  • The similar clustering of DNA in humans and archaeal chromosomes is significant because certain genes activate or deactivate based upon how they're folded. (
  • Studies have shown that switching the wrong genes on or off during cellular growth in humans can lead to changes in gene expression that can ultimately be carcinogenic. (
  • The advantages to the use of archaea as a model for studying the organization of DNA during cellular growth in humans -- and the relationship between that organization and the activation of genes that may trigger cancers -- is their relative simplicity. (
  • HACs essentially function as new mini-chromosomes carrying engineered sets of genes that are inherited alongside a cell's natural set of chromosomes. (
  • Analysis of the chromosome revealed 127 known genes, 98 predicted genes and 59 pseudogenes. (
  • The Y chromosome is found only in males and contains many genes that specify male features, as well as genetic and regulatory information that is expressed throughout the whole body. (
  • As far as looking at specific genes, the chimp and human Y chromosomes had a dramatic difference in gene content of 53 percent. (
  • In other words, the chimp was lacking approximately half of the genes found on a human Y chromosome. (
  • The human Y chromosome contains a third more gene categories--entirely different classes of genes--compared to chimps. (
  • Under evolutionary assumptions of long and gradual genetic changes, the Y chromosome structures, layouts, genes, and other sequences should be much the same in both species, given the relatively short--according to the evolutionary timeline--six-million-year time span since chimpanzees and humans supposedly diverged from a common ancestor. (
  • Public database analysis showed that 29 (69%) corresponded to novel genes, in contrast with only 66 of 250 (26.4%) cDNA clones randomly selected from a human islet library. (
  • Sequencetagged sites developed from 19 islet cDNAs were used to map these genes to human chromosomes using a combination of monochromosomal somatic-cell hybrids, genome-wide radiation hybrids, and mega-yeast artificial chromosome analysis. (
  • Do homologous pairs of chromosomes carry the same genes? (
  • Although the chromosomes carry the same genes, each chromosome in a homologous pair could carry a dif. (
  • Fungi and animals, including humans, have a lot in common when it comes to the arrangement of genes that determine their sex, according to new work by Howard Hughes Medical Institute geneticists at the Duke University Medical Center . (
  • In fungi, sexual identity is determined by so-called "mating type loci," genes located in a contiguous region of the genome, but which typically do not span an entire chromosome. (
  • Other researchers have found that the human Y chromosome -- and the functionally-related gene clusters it contains -- has a similar history, characterized by the "sequential capture of genes" on four separate occasions, Heitman said. (
  • The human Y chromosome is also barred from recombination along most of its length, a necessary requirement to prevent genes that encode male traits from infiltrating the female X chromosome, Heitman noted. (
  • Certain sex-determination genes occur in palindromic orientations -- head-to-head or tail-to-tail repeats of particular sequences -- which would make such intra-chromosomal repair possible, a pattern also found on the human Y chromosome, according to Heitman. (
  • Identifying genes on each chromosome is an active area of genetic research. (
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (
  • Chromosome 22 likely contains between 500 and 800 genes. (
  • Chromosome 13 likely contains between 300 and 700 genes. (
  • Human chromosome 12 contains more than 1,400 coding genes and 487 loci that have been directly implicated in human disease. (
  • The chromosomes are all of different sizes and contain varying number of genes. (
  • 5,6 The research also showed that the genes surrounding the fusion site in the 614,000-base window did not exist on chimp chromosomes 2A or 2B-the supposed ape origins location. (
  • Chromosomes are double-stranded DNA molecules and contain genes on both strands that are encoded in opposite directions. (
  • These DDX11L2 RNA transcripts are produced in at least 255 different cell types and tissues in humans, highlighting the genes' ubiquitous biological function. (
  • If this fusion occurred recently there should be an excessive amount of homozygosity (autozygosity) of genes on human chromosome two as compared with the genes on other chromosomes (assuming that, after the consanguity, the descendants eventually outbreed and the 'new' number two chromosome somehow became fixed in our descendants). (
  • Calin GA, Sevignani C, Dumitru CD et al (2004) Human microRNA genes are frequently located at fragile sites and genomic regions involved in cancers. (
  • These unique properties of the Y have important consequences for its mutation processes, its genes, and its population genetics: Y chromosomes pass down from father to son largely unchanged, except by the gradual accumulation of mutations. (
  • Some genes that were thought to be lost from the Y chromosome have actually relocated to the autosomes. (
  • genes are expressed, makes us human. (
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (
  • The first proposal extends the transcriptional mapping and will use cosmid clones localised to one of 30 intervals of the short arm of chromosome 16 in a concentrated and systematic screening strategy to identify genes. (
  • By combining our efforts we expect not only to complete a physical map of the short arm of chromosome 16 but also to identify and map many of the genes from the short arm onto this physical map. (
  • The Human Genome Project (HGP) endeavored to map the human genome down to the nucleotide (or base pair) level and to identify all the genes present in it. (
  • The nucleotide and derived amino acid sequence of human apolipoprotein A-IV mRNA and the close linkage of its gene to the genes of apolipoproteins A-I and C-III. (
  • That is, instead of 46 chromosomes, the cell could have 47 with the 47th being very small, roughly 6-10 megabases (Mb) in size instead of 50-250 Mb for natural chromosomes, and able to carry new genes introduced by human researchers. (
  • Students randomly select jelly beans (or other candy) that represent genes for several human traits such as tongue-rolling ability and eye color. (
  • We can also transfect human genes into mice for developmental study. (
  • Furthermore, the fact that humans are not inbred and are in fact very heterozygous for many X-linked genes has enabled studies less feasible in other mammal. (
  • A gene-centric Human Proteome Project has been proposed to characterize the human protein-coding genes in a chromosome-centered manner to understand human biology and disease. (
  • Here, we report on the protein evidence for all genes predicted from the genome sequence based on manual annotation from literature (UniProt), antibody-based profiling in cells, tissues and organs and analysis of the transcript profiles using next generation sequencing in human cell lines of different origins. (
  • We estimate that there is good evidence for protein existence for 69% (n = 13985) of the human protein-coding genes, while 23% have only evidence on the RNA level and 7% still lack experimental evidence. (
  • Homologous chromosomes are very similar in sequence and have the same genes, but may contain different alleles of those genes (Figure 3.3). (
  • Genes on homologous chromosomes have the same location, or loci. (
  • The objective of the international Chromosome-Centric Human Proteome Project (C-HPP) is to map and annotate all proteins encoded by the genes on each human chromosome. (
  • The C-FIPP consortium was established to organize a collaborative network among the research teams responsible for protein mapping of individual chromosomes and to identify compelling biological and genetic mechanisms influencing colocated genes and their protein products. (
  • The identification of all human chromosome 21 (HC21) genes is a necessary step in understanding the molecular pathogenesis of trisomy 21 (Down syndrome). (
  • Mapping is the construction of a series of chromosome descriptions that depict the position and spacing of unique, identifiable biochemical landmarks, including some genes, that occur on the DNA of chromosomes. (
  • In 1990, DOE initiated projects to enrich the developing chromosome maps with markers for genes. (
  • Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. (
  • Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. (
  • We have isolated two genes on the human sex chromosomes, one on the Y and one on the X, that appear to encode isoforms of ribosomal protein S4. (
  • Both genes are widely transcribed in human tissues, suggesting that the ribosomes of human males and females are structurally distinct. (
  • Transcription analysis revealed that, unlike most genes on the X chromosome, RPS4X is not dosage compensated. (
  • RPS4X maps to the long arm of the X chromosome (Xq), where no other genes are known to escape X inactivation. (
  • As of 2014, there are about 150 imprinted genes known in the mouse and about half that in humans. (
  • In 2019, 260 imprinted genes have been reported in mice and 228 in humans. (
  • It is now known that there are at least 80 imprinted genes in humans and mice, many of which are involved in embryonic and placental growth and development. (
  • This book continues to fulfill that need, and is strengthened by the complete revision of material on the molecular genetics of chromosomes and chromosomal defects. (
  • Other chromosomal conditions: Other changes in the number or structure of chromosome 22 can have a variety of effects, including mental retardation, delayed development, physical abnormalities, and other medical problems. (
  • In a small percentage of cases, trisomy 13 is caused by a rearrangement of chromosomal material between chromosome 13 and another chromosome. (
  • Other chromosomal conditions: Partial monosomy 13q is a rare chromosomal disorder that results when a piece of the long arm (q) of chromosome 13 is missing (monosomic). (
  • This idea was first proposed by researchers who noticed that humans and chimps share similar chromosomal staining patterns when observed under a microscope. (
  • Does getting the right to life from all fetuses that do not have the appearance of a 46-chromosome human and are far from the well-known standards of human-chromosomal medicine have priority? (
  • Neither migration nor admixture are mentioned in the text, and, in my opinion, these processes have shaped modern human Y chromosomal variation. (
  • Inside these vast structures chromosomal DNA is separated from bound factors and unwound to generate templates for the synthesis of daughter chromosomes. (
  • Miller and a host of evolutionists have jumped on this alleged chromosomal fusion as evidence that humans, the chimpanzee, and other hominids all descended from one common ancestor. (
  • The Y-chromosomal most recent common ancestor (Y-MRCA, informally known as Y-chromosomal Adam) is the most recent common ancestor (MRCA) from whom all currently living humans are descended patrilineally. (
  • Preparing, Staining and Observing G-banding human chromosomes Develop an understanding of karyotyping and the association of various chromosomal abnormalities to diseases. (
  • Luskin took Miller to task for showing that the chromosomal fusion which resulted in human chromosome 2 was evidence for the common ancestry between humans and the great apes. (
  • Given the lack of empirical evidence that random chromosomal fusion events are not disadvantageous, perhaps the presence of a chromosomal fusion event is not good evidence for a Neo-Darwinian history for humans. (
  • The explosion of information on human genetic diseases has meant that there is a greater need than ever for students, practising physicians, laboratory technicians, and researchers to have a concise, up-to-date summary of the normal and abnormal behavior of chromosomes. (
  • 1. Chromosome banding patterns provide independent confirmation of relationship in hominids, in addition to anatomical, physiological, genetic, and molecular evidence. (
  • This video segment from NOVA: "Judgment Day: Intelligent Design on Trial" reveals how genetic evidence helped to confirm an important component of Darwin's theory of evolution by natural selection: the common ancestry of humans and apes. (
  • More recent research has propped up Darwin's theory of common descent (also called common ancestry): genome analysis reveals the genetic difference between humans and chimps to be less than 2 percent. (
  • While the genetic similarity between human and ape strengthened Darwin's theory, a significant, unexplained discrepancy remained. (
  • The "suppressed-recombination" model of speciation points out that chromosome rearrangements act as a genetic filter between populations. (
  • Mutations associated with the rearranged chromosomes cannot flow from one to another population, whereas genetic exchange will freely occur between colinear chromosomes. (
  • An extra copy of chromosome 21 causes Down syndrome, the most frequent genetic cause of significant mental retardation, which affects up to 1 in 700 live births. (
  • Scientists in Japan have completed the DNA sequence of a chimpanzee chromosome and lined it up alongside its human counterpart to identify genetic similarities and differences. (
  • Chimpanzees are our closest genetic relatives, and the chromosome sequences match up remarkably well. (
  • In a Review published October 20 in Trends in Cell Biology , researchers discuss the latest research on why many human oocytes frequently have a wrong number of chromosomes--which may lead to genetic disorders, such as Down syndrome and miscarriage. (
  • these transferred chromosomes were maintained as functioning genetic elements in the hybrid cells. (
  • Our results firmly establish subnuclear particle-mediated chromosome transfer as a valid somatic cell genetic tool. (
  • Abnormalities in the number of chromosomes may result in genetic defects or serious he. (
  • The fungus might therefore serve as a useful model system for the study of sex chromosome evolution and the genetic changes that can lead to infertility, he said. (
  • These similarities suggest that further study of C. neoformans might help elucidate the genetic changes that can lead to infertility in fungi and humans, as well as the repair mechanisms that prevent its more common occurrence," Heitman said. (
  • Chromosomes are dark-staining, threadlike structures in the cell nucleus composed of DNA and chromatin that carry genetic information (definition after Nussbaum et al and Mueller and Young). (
  • A small extra chromosome is made up of genetic material from chromosome 22 that has been abnormally duplicated (copied). (
  • Please see Pattern and process in human genetic diversity: from genomes to populations for information about my current Fellowship project. (
  • This particular Y chromosome came from an African-American man living in South Carolina who had sent a DNA sample to a consumer genetic testing company. (
  • The human Y chromosome exhibits surprisingly low levels of genetic diversity. (
  • Here, using genome-wide analyses of X, Y, autosomal and mitochondrial DNA, in combination with extensive population genetic simulations, we show that low observed Y chromosome variability is not consistent with a purely neutral model. (
  • Although it was originally thought that 97% of human Deoxyribonucleic acid: the chemical inside the nucleus of a cell that carries the genetic instructions for making living organisms. (
  • In this study, we investigate patterns of genetic diversity in noncoding regions across the entire X chromosome of a global sample of 26 unrelated genetic females. (
  • -University of Arizona geneticists have discovered the oldest known genetic branch of the human Y chromosome - the hereditary factor determining male sex. (
  • Unlike the other human chromosomes , the majority of the Y chromosome does not exchange genetic material with other chromosomes, which makes it simpler to trace ancestral relationships among contemporary lineages. (
  • When none of the genetic markers used to assign lineages to known Y chromosome groupings were found, the DNA sample was sent to Family Tree DNA for sequencing. (
  • Hammer said "the most striking feature of this research is that a consumer genetic testing company identified a lineage that didn't fit anywhere on the existing Y chromosome tree, even though the tree had been constructed based on perhaps a half-million individuals or more. (
  • Recent genetic studies have identified a third locus on chromosome 12 ( MODY3 ) that is linked to MODY in a group of French families. (
  • This is accomplished by truncating the natural chromosome, followed by the introduction of unique genetic material via the Cre-Lox system of recombination. (
  • In the X chromosome, the centromere encompasses a region of highly repetitive DNA spanning 3.1 million base pairs (the bases A, C, T, and G form pairs in the DNA double helix and encode genetic information in their sequence). (
  • Here we present the finished sequence of human chromosome 12, which has been finished to high quality and spans approximately 132 megabases, representing approximately 4.5% of the human genome. (
  • The beginning of interphase cytogenetics can be attributed to significant advances in human molecular genetics and cytogenetics. (
  • These chromosomes determine individual genetics traits as well as a person's gender. (
  • I often mention this paradox to my Genetics students and I have searched the literature but I have never found a better explanation nor a statement in a textbook that all of us (humans) are descendants from an incestuous family. (
  • The results are published in the American Journal of Human Genetics . (
  • Human Genetics, Chromosomes and Alleles: What's Dominant? (
  • In a class discussion format, students are presented with background information about basic human genetics.The number of chromosomes in both body cells and egg and sperm cells is covered, as well as the concept of dominant and recessive alleles. (
  • In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non-recombining portions of DNA from the male-specific Y chromosome (called Y-DNA). (
  • Second, a chromosome normally has one centromere, or central point at which a chromosome's two identical strands are joined. (
  • Yet remnants of a second, presumably inactive centromere can be found on human chromosome 2. (
  • In a paper published today in Cell , Penn researchers describe a new way to form an essential part of the artificial chromosome, called the centromere, by bypassing the biological requirements needed to form a natural one. (
  • By being able to build a centromere on a HAC in a more straightforward way, we are closer to scaling up to full-size chromosomes. (
  • Inheritance of HACs from mother to daughter cells during division is key, and this speaks to the importance of the centromere--the cinched area of duplicated chromosomes responsible for holding together pairs of "sister" chromosomes created when cells divide. (
  • For example, mammals depend on the CENP-A protein to specify centromere location on chromosomes for precise cell division. (
  • We've taken our centromere bypass method to make a fully functional HAC without the cloning nightmares that repetitive centromere DNA has presented to mammalian chromosome engineers through the last two decades," Black said. (
  • The constricted region of linear chromosomes is known as the centromere. (
  • Although this constriction is called the centromere, it usually is not located exactly in the center of the chromosome and, in some cases, is located almost at the chromosome's end. (
  • As chromosomes are copied in preparation for production of a new cell, the centromere serves as an attachment site for the two halves of each replicated chromosome, known as sister chromatids. (
  • Chromosomes, which consist of two identical chromatids joined at a centromere (light), are composed of deoxyribonucleic acid (DNA) coiled around proteins. (
  • Definition: Chromosome having its centromere in the middle. (
  • Definition: Chromosome whose centromere lies very near one end. (
  • The remaining break was at the centromere, a notoriously difficult region of repetitive DNA found in every chromosome. (
  • Since the centromere is the point at which the spindle attaches to the chromosome at mitosis and meiosis, wouldn't having two centromeres result in the possibility of the spindle attaching at two points on the chromosome, pulling it apart? (
  • A common counterargument to this is that in many dicentrics, one centromere becomes inactivated, and, indeed, that seems to be the case in human chromosome 2. (
  • But doesn't that mean we now need two mutations -first the fusion, then the centromere inactivation- to get a viable chromosome? (
  • Thus, in a fusion between two non-homologous chromosomes, like that of human chromosome 2, one centromere begins preparing its kinetochores before the other, and by being able to do so may interfere with the other finishing (or even beginning) in time for the next phase of meiosis or mitosis. (
  • Approximately 90% of human Robertsonian translocations occur between nonhomologous acrocentric chromosomes, producing dicentric elements which are stable in meiosis and mitosis, implying that one centromere is functionally inactivated or suppressed. (
  • By essentially 'out-competing' the other centromere, normal segregation of the chromosomes at meiosis is achieved, without requiring two mutations. (
  • Robin Ball explains how the secret lies in X chromosome inactivation. (
  • XIST is the main actor in a fundamental process called X chromosome inactivation (XCI) where, in females, one of the two X chromosomes is silenced to balance the extra gene expression dosage. (
  • Avner P, Heard E (2001) X-chromosome inactivation: counting, choice and initiation. (
  • Chaligne R, Heard E (2014) X-chromosome inactivation in development and cancer. (
  • The title of my talk is X Chromosome Inactivation in Human Cell. (
  • I will talk to you about X chromosome inactivation, the way mammals carry out X dosage compensation. (
  • Although we hear a lot about how the mouse inactivates one X chromosome, I will be talking about the version of X chromosome inactivation in our own species. (
  • Most studies of the early events in X inactivation have been carried out in mice as it's been difficult to look at human embryos at that time. (
  • PHILADELPHIA) - For the past 20 years, researchers have been trying to perfect the construction of human artificial chromosomes, or HACs for short. (
  • Alternative methods of creating transgenes, such as utilizing yeast artificial chromosomes and bacterial artificial chromosomes, lead to unpredictable problems. (
  • Yeast artificial chromosomes and bacterial artificial chromosomes were created before human artificial chromosomes, which were first developed in 1997. (
  • The use of human artificial chromosomes overcomes both of these problems by providing a new chromosome in addition to the ones that already exist in the cells of the subject. (
  • Hypothetical model in which chimpanzee chromosomes 2A and 2B fused end-to-end to form human chromosome 2. (
  • The similarities are striking and quite convincing that Homo sapiens chromosome 2 is the counterpart of the chimpanzee chromosomes 2A and 2B. (
  • One of the main deficiencies with the original chimpanzee genome sequence published in 20053 was that it was a draft sequence and only represented a 3.6-fold random coverage of the 21 chimpanzee autosomes, and a 1.8-fold redundancy of the X and Y sex chromosomes. (
  • This includes 22 pairs of autosomes and one pair of sex chromosomes. (
  • 44 are autosomes, that is non-sex chromosomes and two are the sex chromosomes - X and Y. (
  • Covers human autosomes and sex chromosomes. (
  • Unlike the autosomes, recombination between the X chromosome and Y chromosome is often thought to be constrained to two small pseudoautosomal regions (PARs) at the tips of each sex chromosome. (
  • In other words, humans and chimps have DNA sequences that are greater than 98 percent similar. (
  • And third, whereas a normal chromosome has readily identifiable, repeating DNA sequences called telomeres at both ends, chromosome 2 also has telomere sequences not only at both ends but also in the middle. (
  • Mapping of hRAD21, SNF2h and Mi2 binding sites by chromatin immunoprecipitation experiments reveals the specific association of these three proteins with human DNA elements containing Alu sequences. (
  • These results indicate that this PCR-based cDNA selection strategy yields information on a distinct subset of pancreatic islet transcribed sequences, which complements ongoing human EST identification efforts based on random cDNA selection. (
  • In searching for the basis of the physical variation between chimpanzees and humans, differences in genome sequences are just the first place to start: we need to know what these differences mean," writes Jean Weissenbach of Genoscope, France, in a perspective that accompanies the paper in Nature . (
  • Telomere sequences at the ends of chromosomes are 5,000 to 15,000 bases long. (
  • These highly purifed labeled sequences reassociate only with DNA from individuals with a Y chromosome. (
  • The purifed Y-chromosome-specific sequences may represent between 7 and 11 percent of the human Y chromosome. (
  • sequences would provide the answer to the question of why humans are so different from their closest living ancestors. (
  • Genetically speaking, those species which have DNA sequences most similar to that of humans are the great apes. (
  • The Y chromosome includes millions of mutable sites and these will be generally reported both by the 1000 Genomes Project, and the plethora of full genome sequences that is about to become available. (
  • Other partially homologous sequences have been detected on chromosomes 2 and 17. (
  • Two pairs of human chromosomes had been found to be fused, he said, providing clear evidence of our shared ancestry with apes. (
  • Coloured scanning electron micrograph (SEM) of pairs of human chromosomes. (
  • The phases through which chromosomes replicate, divide, shuffle, and recombine are imperfect, as DNA is subject to random mutations. (
  • Mutations adaptive to local conditions will, therefore, accumulate differentially in the protected chromosome regions so that parapatric or partially sympatric populations will genetically differentiate, eventually evolving into different species. (
  • Alternatively, selection acting on new mutations, and affecting linked neutral sites, could reduce variability on the Y chromosome. (
  • While we show that purifying selection removing deleterious mutations can explain the low diversity on the Y chromosome, we cannot exclude the possibility that positive selection acting on beneficial mutations could have also reduced diversity in linked neutral regions, and may have contributed to lowering human Y chromosome diversity. (
  • The more mutations that differ between two Y chromosomes the farther back in time the common ancestor lived. (
  • Mutations in an unknown locus ( MODY1 ) on chromosome 20 and the glucokinase gene ( MODY2 ) on chromosome 7 can cause this form of non-insulin-dependent diabetes. (
  • The human Y-chromosome accumulates roughly two mutations per generation. (
  • Y-DNA haplogroups represent major branches of the Y-chromosome phylogenetic tree that share hundreds or even thousands of mutations unique to each haplogroup. (
  • Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. (
  • Trisomy 13 can also result from an extra copy of chromosome 13 in only some of the body's cells (mosaic trisomy 13). (
  • For example, people with Down syndrome have three copies of chromosome 21, instead of the two copies found in other people. (
  • Trisomy 13 occurs when each cell in the body has three copies of chromosome 13 instead of the usual two copies. (
  • As a result, a person has the two usual copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. (
  • Humans typically have 23 pairs of chromosomes, resulting in a total of 46 chromosomes. (
  • Humans have 22 chromosome pairs as well as two sex chromosomes, for a total of 46 chromosomes. (
  • RIKEN had sequenced human chromosome 21 in 2000 as part of the Human Genome Project. (
  • Of the four species of great apes, also known as hominids, the chimpanzee ( Pan troglodytes ) harbors the most similar DNA sequence to humans, making it genetically the closest to Homo sapiens . (
  • In particular, it explains that humans have one fewer chromosome pair in their cells than apes, due to a mutation found in chromosome number 2 that caused two chromosomes to fuse into one. (
  • If humans and apes shared a common ancestor, shouldn't both have the same number of chromosomes in their cells? (
  • As a result, the bovines produced immune cells that spit out human antibodies. (
  • If anything, they may work better because they'll be able to communicate with human immune cells more fluently, he says. (
  • Human cells are horrifyingly complex, and understanding the rules that govern DNA folding is extremely challenging," Bell said. (
  • Each time one of our cells divides the chromosomes condense and form distinct shapes that can be seen by a normal light microscope. (
  • We have 46 chromosomes in our cells arranged into 23 pairs. (
  • Building on our success, we and others in the synthetic chromosome field will now have a real chance to attain what has only been achieved so far in yeast cells. (
  • Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. (
  • Changes in the number or structure of chromosomes in new cells may lead to serious problems. (
  • It is also crucial that reproductive cells, such as eggs and sperm, contain the right number of chromosomes and that those chromosomes have the correct structure. (
  • The only human cells that do not contain pairs of chromosomes are reproductive cells, or gametes, which carry just one copy of each chromosome. (
  • When two reproductive cells unite, they become a single cell that contains two copies of each chromosome. (
  • This cell then divides and its successors divide numerous times, eventually producing a mature individual with a full set of paired chromosomes in virtually all of its cells. (
  • Besides the linear chromosomes found in the nucleus, the cells of humans and other complex organisms carry a much smaller type of chromosome similar to those seen in bacteria. (
  • White blood cells and other cell types with the capacity to divide very frequently have a special enzyme that prevents their chromosomes from losing their telomeres. (
  • This leads to egg cells that unintentionally contain too few or too many (22 or 24) chromosomes--a condition known as aneuploidy. (
  • In this report, we describe the production and characterization of proliferating hybrid cell populations generated by fusion of murine microcells with intact mouse, Chinese hamster, and human recipient cells. (
  • Chromosome 22 is the second smallest human chromosome, spanning about 49 million base pairs (the building material of DNA ) and representing between 1.5 and 2 % of the total DNA in cells . (
  • Chromosome 13 spans about 113 million base pairs (the building material of DNA ) and represents between 3.5 and 4 % of the total DNA in cells . (
  • There are 46 human chromosomes inside most cells. (
  • Cultivating human cells in the Petri dish is not a big challenge today. (
  • Most human cells contain 46 chromosomes, 23 inherited from the mother and 23 from the father. (
  • Sarah also talks with Jennifer Gruhn , a postdoctoral research fellow at the University of Copenhagen Center for Chromosome Stability, about counting chromosomes in human egg cells. (
  • Men who smoke have fewer Y chromosomes in their blood cells compared to non-smokers. (
  • Chromosome 8 spans about 145 million base pairs (the building material of DNA ) and represents between 4.5 and 5.0% of the total DNA in cells . (
  • Human pluripotent stem cells offer a limitless source of cells for regenerative medicine. (
  • Neural derivatives of human embryonic stem cells (hESCs) are currently being used for cell therapy in 3 clinical trials. (
  • The apparent spontaneous loss of evolution toward normal senescence of somatic cells was associated with a jumping translocation of chromosome 1q. (
  • Therefore, the 46 nuclear chromosomes, that all humans possess within their cells, are actually 23 pairs of identical chromosomes. (
  • A human artificial chromosome (HAC) is a microchromosome that can act as a new chromosome in a population of human cells. (
  • HACs were first constructed de novo in 1997 by adding alpha-satellite DNA to telomeric and genomic DNA in human HT1080 cells. (
  • 21HAC was also able to be transferred into cells from a variety of species (mice, chickens, humans). (
  • State the number of chromosomes in human body, sperm and egg cells. (
  • Explain why sperm and eggs cells have only half the number of chromosomes found in the body cells. (
  • First I will tell you what we know from studies of human cells and human subjects. (
  • And last, changing the focus from inactive to active X, I will tell you why diploid human cells have only a single active X, no matter the number of Xs in the cell and how this active X is chosen. (
  • And now we have begun to study human ES cells, embryonic stem cells and cleaving embryos left over from in vitro fertilization. (
  • She said that the point of creating the human artificial chromosome project is to develop a shuttle vector for gene delivery into human cells to study gene function in human cells. (
  • Which two cells in the human body don contain 46 chromosomes? (
  • The two types of cells in humans that do not contain 46 chromosomes are egg and sperm cells. (
  • To prepare human chromosomes for viewing (Figure 3.2a): Somatic cells are obtained from the blood. (
  • A dye that binds to the chromosomes is applied to the cells. (
  • thus, all somatic cells have two sets of chromosomes. (
  • In diploid organisms (like humans), the somatic cells possess two copies of the genome, one inherited from the father and one from the mother. (
  • However, in 2004, experimental manipulation by Japanese researchers of a paternal methylation imprint controlling the Igf2 gene led to the birth of a mouse (named Kaguya) with two maternal sets of chromosomes, though it is not a true parthenogenone since cells from two different female mice were used. (
  • Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. (
  • The cellular machinery involved in sister chromatid cohesion, the cohesin complex, also requires access to the nucleosomal DNA to perform its function in chromosome segregation. (
  • This figure depicts chromosome segregation errors in meiosis. (
  • We're really interested in understanding what controls the segregation of chromosomes when an egg develops and where errors come from that could explain the high rate of eggs having an abnormal number of chromosomes," says Melina Schuh, Director of the Department of Meiosis at the Max Plank Institute for Biophysical Chemistry in Germany, who co-authored the paper with postdoctoral fellow Alexandre Webster. (
  • Compared to other species, there is some evidence that human eggs are less able to monitor whether all chromosomes are correctly attached to the spindle fibers prior to segregation, independent of age. (
  • The degree of spindle reorganization correlates with chromosome segregation errors. (
  • The points where spindle fibers attach to chromosomes (called kinetochores) also start to disintegrate with age, allowing chromosomes to orient in an abnormal way on the spindle, which is very likely to promote chromosome segregation errors. (
  • To corroborate Darwin's theory, scientists would need to find a valid explanation for why a chromosome pair is missing in humans that is present in apes. (
  • Twenty two of the chromosome pairs are similar in both males and females, and a pair of X and Y chromosomes determine the sex. (
  • In humans and other mammals, males have one X and one Y chromosome, while females have a pair of X's. (
  • Recombination is the process whereby each member of a pair of chromosomes exchange segments of DNA. (
  • The impetus for this concept is the evolutionary problem that apes have an extra pair of chromosomes-humans have 46 while apes have 48. (
  • One chromosome of each pair has replicated during cell division to form an identical copy, or chromatid. (
  • Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (
  • A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. (
  • This graph shows the total number of publications written about "Chromosomes, Human, Pair 3" by people in Harvard Catalyst Profiles by year, and whether "Chromosomes, Human, Pair 3" was a major or minor topic of these publication. (
  • Below are the most recent publications written about "Chromosomes, Human, Pair 3" by people in Profiles. (
  • The 23rd pair, the sex chromosomes, differ between men and women. (
  • Human chromosome 8 pair after G-banding . (
  • Chromosome 8 pair in human male karyogram . (
  • Hammer cautions against popular concepts of "mitochondrial Eve" or "Y chromosome Adam" that suggest all of humankind descended from exactly one pair of humans that lived at a certain point in human evolution. (
  • Chromosomes are packages of DNA, wound around proteins called histones. (
  • The unique structure of chromosomes keeps DNA tightly wrapped around spool-like proteins, called histones. (
  • This cutting action produces the mRNA needed to create histone proteins that combine with DNA to form chromosomes. (
  • Histone proteins help organize and compact within the nucleus the 6 billion nucleotides, or DNA bases, that make up the human genome - combinations of "A's," "T's," "G's" and "C's. (
  • As a class, students work through an example showing how DNA provides the 'recipe' for making human body proteins. (
  • It is well known that the usual banding procedures (C-, G-, R- and T-) reveal the underlying structure and composition of DNA and associated proteins in mitotic chromosomes (Therman and Susman, 1993). (
  • Alignment of the human chromosome 12 sequence across vertebrates reveals the origin of individual segments in chicken, and a unique history of rearrangement through rodent and primate lineages. (
  • The explanation that the 'complete' chromosome two is ancestral and that the lineages of the other apes (gorilla, chimpanzee, orangutan) have each and independently experienced centromeric breaks, is not parsimonious and not accepted by experts in evolution. (
  • By examining the differences between modern Y chromosomes (as DNA polymorphisms) we can attempt to reconstruct a history of human paternal lineages (1). (
  • It is likely that other divergent lineages will be found, whether in Africa or among African-Americans in the U.S. and that some of these may further increase the age of the Y chromosome tree," he added. (
  • Migration may result in the expansion of a successful set of Y chromosome lineages, while admixture between divergent populations may inflate estimates of diversity in a population. (
  • It will be nice to see others join in on the SNP bandwagon , because that is really the way forward in age estimation for Y-chromosome lineages. (
  • There are also two ring designs featuring all the human chromosomes (karyotype designs). (
  • Karyotype 1 has the chromosomes arranged with two xx chromosomes and one y chromosome in the middle, followed by all the other chromosomes in order on either side. (
  • Karyotype 2 design simply has all 24 types of chromosomes arranged 1-24 (anticlockwise) with the centromeres (the part where the two sides are joined) lined up. (
  • How many chromosomes are shown in a normal human karyotype? (
  • A normal human karyotype typically contains 23 pairs of chromosomes. (
  • As was discussed by Miller in his court testimony, interestingly, if one takes a close look at the gross physical appearance (karyotype) of both human and chimpanzee chromosomes, one finds that all of the chromosomes can be matched between species, except the human chromosome 2. (
  • The complete set of chromosomes in a cell arranged in pairs in order of decreasing size is termed a Karyotype. (
  • At this point the chromosomes may be photographed, and a karyotype prepared to aide in the analysis of the chromosomes (Figure 3.2c). 1 Eukaryotic chromosomes are inherited in sets. (
  • The banding patterns seen on stained chromosomes from humans and chimpanzees are compared in detail, showing striking similarities. (
  • 3. Predictions of similarities of chromosomes, based on the assumption of evolutionary relationships, can be tested. (
  • 3. demonstrate their understanding that degrees of similarities in chromosomes correspond to degrees of evolutionary relationship. (
  • Newswise - A study led by researchers at Indiana University is the first to find similarities between the organization of chromosomes in humans and archaea. (
  • Regions of the genome that determine the sexual identity of the infectious fungus Cryptococcus neoformans bear striking similarities to the human Y chromosome -- the sex chromosome associated with male characteristics -- the team found. (
  • The concept of a fusion first came about in 1982 when scientists examined the similarities of human and ape chromosomes under a microscope. (
  • Students observe that the banding patterns seen on stained chromosomes from humans and chimpanzees show striking similarities. (
  • It is an unusual segment of the human genome since, apart from two small regions in which pairing and exchange take place with the X chromosome, it is male-specific and haploid, and escapes from recombination. (
  • So, mom and dad each contribute 23 chromosomes-the haploid number-to their offspring. (
  • They have the haploid number of chromosomes (23) because they are produced by meiosis, or reduction division. (
  • This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. (
  • Structural maintenance of chromosomes 4 is a predictor of survival and a novel therapeutic target in colorectal cancer. (
  • They protect the ends of chromosomes in a manner similar to the way the tips of shoelaces keep them from unraveling. (
  • Telomeres are a six-base sequence of the DNA letters TTAGGG repeated over and over again at the ends of chromosomes. (
  • Do all living things have the same types of chromosomes? (
  • A pseudogene related to this gene is located on chromosome 2. (
  • In humans, the functional F0F1-ATP synthase beta subunit gene is located on chromosome 12 in the p13----qter region. (
  • Humans, along with other animals and plants, have linear chromosomes that are arranged in pairs within the nucleus of the cell. (
  • This circular chromosome is found in mitochondria, which are structures located outside the nucleus that serve as the cell's powerhouses. (
  • Chromosomes are present in the nucleus of every cell of the body. (
  • Brown CJ, Hendrich BD, Rupert JL, Lafreniere RG, Xing Y et al (1992) The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. (
  • In the nucleus of each cell, the DNA molecule is packaged into a thread-like struture called chromosomes. (
  • sequence of the human All the DNA contained in an organism or a cell, which includes both the chromosomes within the nucleus and the DNA in mitochondria. (
  • However, closer examination of the entire All the DNA contained within species of organisms, which includes both the chromosomes within the nucleus and the DNA in mitochondria. (
  • They do not yet know what effects these changes may have had on the biology of humans or chimpanzees. (
  • The other participating groups in the Chromosome 14 Project include the Institute for Systems Biology (Seattle, Washington, USA), the Genome Sequencing Center (Washington University at St. Louis, Missouri, USA) and the Human Genome Organisation . (
  • Alexandre Webster et al, Mechanisms of Aneuploidy in Human Eggs, Trends in Cell Biology (2016). (
  • Our analysis indicates this lineage diverged from previously known Y chromosomes about 300,000 ago, a time when anatomically modern humans had not yet evolved," said Michael Hammer, an associate professor in the University of Arizona's department of ecology and evolutionary biology and a research scientist at the UA's Arizona Research Labs. (
  • Filling in the remaining gaps in the human genome sequence opens up new regions of the genome where researchers can search for associations between sequence variations and disease and for other clues to important questions about human biology and evolution. (
  • We're starting to find that some of these regions where there were gaps in the reference sequence are actually among the richest for variation in human populations, so we've been missing a lot of information that could be important to understanding human biology and disease," Miga said. (
  • A companion approach for the Biology and Disease-Driven HPP (B/D-HPP) component of the Human Proteome Project is currently being organized, building upon the Human Proteome Organization's organ-based and biofluid-based initiatives ( (
  • The frequency of sister chromatid exchanges among chromosomes correlates with chromosome length. (
  • Possible evolutionary relationships are explored, as are the chromosomes and relationships of other apes. (
  • Primate Cladogram (based on chromosome banding pattern analysis of apes and old world monkeys) should be examined. (
  • Based on fossil evidence and comparative anatomy, Charles Darwin proposed that humans and great apes-which include chimpanzees, gorillas, and orangutans-share a common ancestor that lived several million years ago. (
  • While great apes all have 48 chromosomes (24 pairs), humans have only 46 (23 pairs). (
  • or the ancestor had 23 pairs, and apes carry a split chromosome. (
  • First, the banding (or dye pattern) of human chromosome 2 closely matches that of two separate chromosomes found in apes (chimp chromosome 2 and an extra chromosome that does not match any other human chromosome). (
  • If humans had been found to have 24 chromosome pairs, this would have been understood as evidence for common ancestry with apes because apes also have 24. (
  • Humans and great apes differ in chromosome numbers-humans have 46 while apes have 48. (
  • One of the more popular arguments used for humans supposedly evolving from apes is known as the chromosome fusion. (
  • If humans evolved from an ape-like creature only three to six million years ago, a mere blip in the grand scheme of the evolutionary story, why do humans and apes have this discrepancy? (
  • It might comfort those wishing to blame incest on the non-human apes but it is not very scientific. (
  • Humans have 23 pairs including a single chromosome 2 (46 total), while the great apes have 24 pairs including the distinct chromosomes 2A and 2B (48 total). (
  • Most modern evolutionary biologists do not claim that humans evolved from chimpanzees or any of the other living apes. (
  • Instead, it is proposed that humans and the great apes all evolved separately from one now extinct common ancestor through independent evolutionary lines (Figure 1). (
  • HACs differ in this regard, as they are entirely separate chromosomes. (
  • Now, a team led by researchers at the U.S. Army Medical Research Institute of Infectious Diseases (USAMRIID) in Frederick, Maryland, has used genetically engineered cows to produce large amounts of human antibodies against hantavirus, an often deadly disease mainly transmitted from rodents to people. (
  • The USAMRIID researchers, led by virologist Jay Hooper, teamed up with SAB Biotherapeutics in Sioux Falls, South Dakota, to use genetically engineered cows that, when presented with an antigen, could produce fully human polyclonal antibodies against both the Sin Nombre hantavirus strain, first isolated from the Four Corners region of the southwestern United Sates, and the Andes hantavirus strain, which is prevalent in Chile. (
  • The researchers found nearly 68,000 stretches of DNA that were different between the two species, including DNA that had been added to or deleted from one of the chromosomes over the course of evolution. (
  • The researchers suggest that, despite the lack of recombination, some fungal mating type gene repair might occur through the exchange of gene segments within chromosomes. (
  • In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. (
  • Supposed proof for the alleged fusion came in 1991, when researchers discovered a fusion-like DNA sequence about 800 bases in length on human chromosome 2. (
  • In 2011, researchers formed a human artificial chromosome by truncating chromosome 14. (
  • The publication of the telomere-to-telomere assembly of a complete human X chromosome July 14 in Nature is a landmark achievement for genomics researchers. (
  • 2. identify examples of inversion in homologous chromosomes. (
  • A 1994 paper by Beth Sullivan and her lab at Duke University suggests that not all centromeres are equal: centromeres from non-homologous chromosomes appear to assemble kinetochores at different rates. (
  • sensitivity of 33258 Hoechst fluorescence allows microfluorometric analysis of sister chromatid exchanges in human metaphase chromosomes. (
  • Chimps inherit 24 chromosomes from each parent and have 24 chromosome pairs. (
  • The first is that we share a common ancestor with chimps and that, during the course of evolution, chromosome fusion has taken place. (
  • 1 However, humans and chimps also have regions of their chromosomes that do not share common staining patterns. (
  • Previous research using microdensitometric scanning and computer graphic image analysis showed that T-banded segments of human metaphase chromosomes usually exhibit an asymmetrical distribution of high density (HD) chromatin between sister chromatids. (
  • 2004) confer high resistance to heat denaturation to the terminal regions of metaphase chromosomes which results in selective staining after T-banding (Dutrillaux, 1973). (
  • Overexpression of the structural maintenance of chromosome 4 protein is associated with tumor de-differentiation, advanced stage and vascular invasion of primary liver cancer. (
  • This step-by-step construction project is the goal of the Human Genome Project-Write, a collaboration to build that life-size synthetic chromosome. (
  • In the 2005 chimpanzee genome project and resulting Nature journal publication, the sequence contigs4 were not assembled and oriented based on a map of the chimpanzee genome, but rather on a map of the human genome. (
  • The Human Genome Project was completed in 2003. (
  • The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. (
  • One differed by as much as 3.3-fold (330 percent), and a class specific to human 'has no counterpart in the chimpanzee MSY [male-specific Y chromosome]. (
  • Telomeres are repetitive stretches of DNA located at the ends of linear chromosomes. (
  • Telomeres protect the ends of the chromosomes from damage and stop them from becoming attached to each other. (
  • Telomeres are the regions at the end of chromosomes that contain thousands of repeats of the DNA sequence "TTAGG. (
  • This makes the ring look strange in the images, as some of the centromeres are at the top of the chromosomes and some at the bottom, but when worn this effect is great. (
  • Human artificial chromosome (HAC, green) with two sister centromeres (red), similar to that of the natural host chromosomes (blue). (
  • For cell replication to occur, human centromeres are not simply coded by a DNA sequence, unlike baker's yeast long used synthetic chromosome research. (
  • Centromeres help to keep chromosomes properly aligned during the complex process of cell division. (
  • ID proponents on human chromosome 2 sometimes bring up the fact that a telomeric fusion results in a dicentric chromosome, that is, a chromosome with two centromeres. (
  • The speciation model of suppressed recombination has recently been tested by gene and DNA sequence comparisons between humans and chimpanzees, between Drosophila species, and between species related to Anopheles gambiae , the vector of malignant malaria in Africa. (
  • International study of factors affecting human chromosome translocations. (
  • Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. (
  • Recurrent chromosome translocations in liposarcoma. (
  • To determine if this suppression is random, centromeric activity in 48 human dicentric Robertsonian translocations was assigned by assessment of the primary constrictions using dual color fluorescence in situ hybridization (FISH). (
  • Y chromosome evolved from the One of the two sex chromosomes, carried by males (1 copy) and females (2 copies) in mammals. (
  • To be more precise, females have 23 identical pairs, while males have 22 pairs that are identical and the sex chromosomes, X and Y, are paired but not identical. (
  • In females, all chromosomes remain euchromatic and functional. (
  • Their focused research led them to find a mutation on one human chromosome that explained what had happened. (
  • This model encounters a disabling difficulty: namely, how to account for the spread in a population of a chromosome rearrangement after it first arises as a mutation in a single individual. (
  • mutation analysis at MSY1 provides a tool which should allow us to estimate ages for the most recent common ancestors of groups of chromosomes, as an alternative to microsatellites (7). (
  • This region shows a significant divergence between human and chimpanzee , suggesting that its high mutation rates have contributed to the evolution of the human brain. (
  • If two Y chromosomes carry the same mutation, it is because they share a common paternal ancestor at some point in the past. (
  • there will, of course, be lingering uncertainty of parameters such as generation length, but Y chromosome mutation rates are likely to become very secure once full genome sequencing becomes so cheap that it can be applied to a number of father-son pairs. (
  • This was surprising because previously the most diverged branches of the Y chromosome were found in traditional hunter-gatherer populations such as Pygmies and the click-speaking KhoeSan, who are considered to be the most diverged human populations living today. (
  • Molecular cytogenetics is a branch of biomedical sciences that explores chromosomes at molecular and single-cell resolutions at all stages of the cell cycle. (
  • As a result, new opportunities have emerged for analysis of human interphase chromosomes in almost all cell types and states at unprecedented resolution. (
  • Without it, whole chromosomes can be lost during cell division. (
  • Scientists gave this name to chromosomes because they are cell structures, or bodies, that are strongly stained by some colorful dyes used in research. (
  • For example, if all of the DNA molecules in a single human cell were unwound from their histones and placed end-to-end, they would stretch 6 feet. (
  • Chromosomes are a key part of the process that ensures DNA is accurately copied and distributed in the vast majority of cell divisions. (
  • Reverse transcription-polymerase chain reaction (RTPCR) and/or Northern analysis of RNA from multiple tissues confirmed that expression was enhanced in human islet cell RNA for 11 of 15 tested cDNAs. (
  • The final product of meiosis is an egg cell with 23 chromosomes. (
  • Fruit flies have four pairs of chromosomes in each individual cell that control characteristics such as eye color, wing structure, body color and head shap. (
  • How Many Chromosomes Are Contained in a Human Male Gamete Cell? (
  • The human male gamete, also known as a sperm cell, contains 23 chromosomes in total. (
  • Humans have 23 pairs of chromosomes, giving each cell a total of 46. (
  • These changes include an extra piece of chromosome 22 in each cell (partial trisomy), a missing segment of the chromosome in each cell (partial monosomy), and a circular structure called ring chromosome 22 that is caused by the breakage and reattachment of both ends of the chromosome. (
  • During cell division all the DNA of each chromosome is replicated. (
  • It turns out that cell division errors that cause too many or too few chromosomes to remain in the egg may shape human fertility over our reproductive lives . (
  • Chromosome 3q arm gain linked to immunotherapy response in advanced cutaneous squamous cell carcinoma. (
  • Also one X chromosome can be isolated from the other in hybrid cell. (
  • Evolution Lesson: Comparison of Human and Chimp. (
  • It turns out that chromosome 2, which is unique to the human lineage of evolution, emerged as a result of the head-to-head fusion of two ancestral chromosomes that remain separate in other primates. (
  • Particularly, he made much of recent studies of human and chimp DNA and argued that this provided irrefutable evidence of evolution. (
  • Since humans actually have 23, it is understood that this provides evidence that evolution resulted in ape chromosomes being fused. (
  • And the results are not good news for the story of human evolution. (
  • 2002. Genomic Structure and Evolution of the Ancestral Chromosome Fusion Site in 2q13-2q14.1 and Paralogous Regions on Other Human Chromosomes. (
  • Human descent with modification (human evolution) is going to stand or fall on the results of genomic Determining the order of nucleotides in a DNA or RNA molecule, or the order of amino acids in a protein molecule. (
  • X chromosome some 300-160 million years ago, primarily during the evolution of mammals. (
  • Chromosome rearrangements (such as inversions, fusions, and fissions) may play significant roles in the speciation between parapatric (contiguous) or partly sympatric (geographically overlapping) populations. (
  • We have coordinated a large collaborative study to test hypotheses for the origins of modern European populations from a Y chromosome perspective (9, 10), interpreting patterns of diversity in terms of both the impact of the arrival of agriculture in Europe, and of linguistic and geographical barriers to gene flow. (
  • I also earnestly hope that the next set of Y chromosome papers on recent populations will forego the cost of testing hundreds of samples on Y-STRs and invest in full Y-chromosome sequencing of a few samples after an initial Y-SNP screening. (
  • Here we present a de novo human genome assembly that surpasses the continuity of GRCh38 2, along with the first gapless, telomere-to-telomere assembly of a human chromosome. (
  • The ability to sequence the Y chromosome is a relatively new field of genomics research. (
  • Although found in every type of environment, including the human body, archaea are poorly understood compared to the other two domains: bacteria and eukaryotes, which include mammals such as humans. (
  • sequencing the male-specific region of the One of the two sex chromosomes that determines maleness in mammals, carried and passed down from males to males. (
  • Each DNA containing organism has a different number of chromosomes and they, in turn, can exhibit a wide variety of shapes. (
  • 1991. Origin of human chromosome 2: an ancestral telomere-telomere fusion. (
  • 2002. Gene Content and Function of the Ancestral Chromosome Fusion Site in Human Chromosome 2q13-2q14.1 and Paralogous Regions. (
  • About 300,000 years ago falls around the time the Neanderthals are believed to have split from the ancestral human lineage. (
  • The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. (
  • Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. (
  • This is the first time that sequenced chromosomes from the two species have been compared. (
  • Y chromosome (MSY) for the Two living species of ape in the genus Pan, including Pan troglodytes, the Common Chimpanzee, and Pan paniscust, also known as Bonobo or Pygmy Chimpanzee. (
  • Each of the four species of ape (chimpanzee, gorilla, bonobo, and orangutan) possesses 48 chromosomes or 24 pairs, compared to the 46 chromosomes of humans. (
  • This accounts for the difference in diploid numbers between humans and four species of great ape. (
  • Nuclear Energy Toxicology Human Chromosomes Helen Caldicott shows ample warning that our future as a species is imperiled: we have entered a danger zone. (
  • It is now necessary to create a form of energy which is non-threatening to humans, our planet, and other species of life. (
  • Then I will talk about how inactivating human X chromosomes differ from the process in other species and what might be responsible for such differences. (