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.
Any method used for determining the location of and relative distances between genes on a chromosome.
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 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)
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.
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 human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
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.
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.
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.
Actual loss of portion of a chromosome.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
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.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
Mapping of the KARYOTYPE of a cell.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
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 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.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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.
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.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
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)
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.
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.
A small aquatic oviparous mammal of the order Monotremata found in Australia and Tasmania.
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.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
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 specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
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.
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.
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.
Genetic mechanisms that allow GENES to be expressed at a similar level irrespective of their GENE DOSAGE. This term is usually used in discussing genes that lie on the SEX CHROMOSOMES. Because the sex chromosomes are only partially homologous, there is a different copy number, i.e., dosage, of these genes in males vs. females. In DROSOPHILA, dosage compensation is accomplished by hypertranscription of genes located on the X CHROMOSOME. In mammals, dosage compensation of X chromosome genes is accomplished by random X CHROMOSOME INACTIVATION of one of the two X chromosomes in the female.
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 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 type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
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.
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).
Genes that are located on the X CHROMOSOME.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
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.
An enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or 6-mercaptopurine to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC 2.4.2.8.
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.
An arylsulfatase with high specificity towards sulfated steroids. Defects in this enzyme are the cause of ICHTHYOSIS, X-LINKED.
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 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.
Structures within the CELL NUCLEUS of insect cells containing DNA.
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 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.
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.
Structures which are contained in or part of CHROMOSOMES.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
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).
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 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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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 process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
An enzyme catalyzing the transfer of a phosphate group from 3-phospho-D-glycerate in the presence of ATP to yield 3-phospho-D-glyceroyl phosphate and ADP. EC 2.7.2.3.
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.
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.
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
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.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
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.
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).
A family of herbivorous leaping MAMMALS of Australia, New Guinea, and adjacent islands. Members include kangaroos, wallabies, quokkas, and wallaroos.
Established cell cultures that have the potential to propagate indefinitely.
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.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
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.
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 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.
A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.
Genotypic differences observed among individuals in a population.
The possession of a third chromosome of any one type in an otherwise diploid cell.
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.
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.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
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.
A genus of the family Muridae consisting of eleven species. C. migratorius, the grey or Armenian hamster, and C. griseus, the Chinese hamster, are the two species used in biomedical research.
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.
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.
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.
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 genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
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.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
Genetic loci associated with a QUANTITATIVE TRAIT.
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 large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.
An aberration in which an extra chromosome or a chromosomal segment is made.
A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
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.
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)
An individual having different alleles at one or more loci regarding a specific character.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
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)
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
The process by which a DNA molecule is duplicated.
A group of genetically identical cells all descended from a single common ancestral cell by mitosis in eukaryotes or by binary fission in prokaryotes. Clone cells also include populations of recombinant DNA molecules all carrying the same inserted sequence. (From King & Stansfield, Dictionary of Genetics, 4th ed)
Two-dimensional separation and analysis of nucleotides.
Fusion of somatic cells in vitro or in vivo, which results in somatic cell hybridization.
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
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.
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 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.
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).
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.
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.
Biologically active DNA which has been formed by the in vitro joining of segments of DNA from different sources. It includes the recombination joint or edge of a heteroduplex region where two recombining DNA molecules are connected.
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.
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.
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.
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.
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.
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.
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.
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).
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
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.
A group of compounds which consist of a nucleotide molecule to which an additional nucleoside is attached through the phosphate molecule(s). The nucleotide can contain any number of phosphates.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
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.
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.
Addition of methyl groups. In histo-chemistry methylation is used to esterify carboxyl groups and remove sulfate groups by treating tissue sections with hot methanol in the presence of hydrochloric acid. (From Stedman, 25th ed)
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.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
An individual in which both alleles at a given locus are identical.
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
The degree of replication of the chromosome set in the karyotype.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
The relationships of groups of organisms as reflected by their genetic makeup.
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 degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
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.
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 genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
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)
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.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
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)
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.
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.
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.
The functional hereditary units of BACTERIA.
The genetic complement of a plant (PLANTS) as represented in its DNA.
A characteristic symptom complex.
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. (1/1094)

Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX ). Inherited and de novo ARX mutations, including missense mutations and in frame duplications/insertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities.  (+info)

Chromosome abnormalities in sperm from infertile men with asthenoteratozoospermia. (2/1094)

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)

MOUSE (Mitochondrial and Other Useful SEquences) a compilation of population genetic markers. (3/1094)

Mitochondrial and Other Useful SEquences (MOUSE) is an integrated and comprehensive compilation of mtDNA from hypervariable regions I and II and of the low recombining nuclear loci Xq13.3 from about 11 200 humans and great apes, whose geographic and if applicable, linguistic classification is stored with their aligned sequences and publication details. The goal is to provide population geneticists and genetic epidemiologists with a comprehensive and user friendly repository of sequences and population information that is usually dispersed in a variety of other sources. AVAILABILITY: http://www.gen-epi.de/mouse. SUPPLEMENTARY INFORMATION: Documentation and detailed information on population subgroups is available on the homepage: http://www.gen-epi.de/mouse  (+info)

Bipolar disorder susceptibility region on Xq24-q27.1 in Finnish families. (4/1094)

Bipolar disorder (BPD) is a common disorder characterized by episodes of mania, hypomania and depression. The genetic background of BPD remains undefined, although several putative loci predisposing to BPD have been identified. We have earlier reported significant evidence of linkage for BPD to chromosome Xq24-q27.1 in an extended pedigree from the late settlement region of the genetically isolated population of Finland. Further, we established a distinct chromosomal haplotype covering a 19 cM region on Xq24-q27.1 co-segregating with the disorder. Here, we have further analyzed this X-chromosomal region using a denser marker map and monitored X-chromosomal haplotypes in a study sample of 41 Finnish bipolar families. Only a fraction of the families provided any evidence of linkage to this region, suggesting that a relatively rare gene predisposing to BPD is enriched in this linked pedigree. The genome-wide scan for BPD predisposing loci in this large pedigree indicated that this particular X-chromosomal region provides the best evidence of linkage genome-wide, suggesting an X-chromosomal gene with a major role for the genetic predisposition of BPD in this family.  (+info)

Sperm aneuploidy rates in younger and older men. (5/1094)

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)

Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. (6/1094)

BACKGROUND: Alport syndrome (AS) is a hereditary nephropathy characterized by progressive renal failure, hearing loss and ocular lesions. Numerous mutations of the COL4A5 gene encoding the alpha 5-chain of type IV collagen have been described, establishing the molecular cause of AS. The goal of the present study was to identify the genotype-phenotype correlations that are helpful in clinical counseling. COL4A5-mutations (n=267) in males were analysed including 23 German Alport families. METHODS: Exons of the COL4A5 gene were PCR-amplified and screened by Southern blot, direct sequencing or denaturing gradient gel electrophoresis. Phenotypes were obtained by questionnaires or extracted from 44 publications in the literature. Data were analysed by Kaplan-Meier statistics, chi(2) and Kruskal-Wallis tests. RESULTS: Genotype-phenotype data for 23 German Alport families are reported. Analysis of these data and of mutations published in the literature showed the type of mutation being a significant predictor of end-stage renal failure (ESRF) age. The patients' renal phenotypes could be grouped into three cohorts: (1) large rearrangements, frame shift, nonsense, and splice donor mutations had a mean ESRF age of 19.8+/-5.7 years; (2) non-glycine- or 3' glycine-missense mutations, in-frame deletions/insertions and splice acceptor mutations had a mean ESRF age of 25.7+/-7.2 years and fewer extrarenal symptoms; (3) 5' glycine substitutions had an even later onset of ESRF at 30.1+/-7.2 years. Glycine-substitutions occurred less commonly de novo than all other mutations (5.5% vs 13.9%). However, due to the evolutionary advantage of their moderate phenotype, they were the most common mutations. The intrafamilial phenotype of an individual mutation was found to be very consistent with regards to the manifestation of deafness, lenticonus and the time point of onset of ESRF. CONCLUSIONS: Knowledge of the mutation adds significant information about the progress of renal and extrarenal disease in males with X-linked AS. We suggest that the considerable prognostic relevance of a patient's genotype should be included in the classification of the Alport phenotype.  (+info)

Low frequency of MECP2 mutations in mentally retarded males. (7/1094)

A high frequency of mutations in the methyl CpG-binding protein 2 (MECP2) gene has recently been reported in males with nonspecific X-linked mental retardation. The results of this previous study suggested that the frequency of MECP2 mutations in the mentally retarded population was comparable to that of CGG expansions in FMR1. In view of these data, we performed MECP2 mutation analysis in a cohort of 475 mentally retarded males who were negative for FMR1 CGG repeat expansion. Five novel changes, detected in seven patients, were predicted to change the MECP2 coding sequence. Except for one, these changes were not found in a control population. While this result appeared to suggest a high mutation rate, this conclusion was not supported by segregation studies. Indeed, three of the five changes could be traced in unaffected male family members. For another change, segregation analysis in the family was not possible. Only one mutation, a frameshift created by a deletion of two bases, was found to be de novo. This study clearly shows the importance of segregation analysis for low frequency mutations, in order to distinguish them from rare polymorphisms. The true frequency of MECP2 mutations in the mentally retarded has probably been overestimated. Based on our data, the frequency of MECP2 mutations in mentally retarded males is 0.2% (1/475).  (+info)

Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. (8/1094)

The retinitis pigmentosa GTPase regulator (RPGR) is encoded by the X-linked RP3 locus, which upon genetic lesions leads to neurodegeneration of photoreceptors and blindness. The findings that RPGR specifically and directly interacts in vivo and in vitro with retina-specific RPGR-interacting protein 1 (RPGRIP) and that human mutations in RPGR uncouple its interaction with RPGRIP provided the first clue for the retina-specific pathogenesis of X-linked RP3. Recently, mutations in RPGRIP were found to lead to the retinal dystrophy, Leber congenital amaurosis. However, mouse models null for RPGR had, surprisingly, a very mild phenotype compared with those observed in XlRP3-affected humans and dogs. Moreover, recent reports are seemingly in disagreement on the localization of RPGR and RPGRIP in photoreceptors. These discrepancies were compounded with the finding of RPGR mutations leading exclusively to X-linked cone dystrophy. To resolve these discrepancies and to gain further insight into the pathology associated with RPGR- and RPGRIP-allied retinopathies, we now show, using several isoform-specific antibodies, that RPGR and RPGRIP isoforms are distributed and co-localized at restricted foci throughout the outer segments of human and bovine, but not mice rod photoreceptors. In humans, they also localize in cone outer segments. RPGRIP is also expressed in other neurons such as amacrine cells. Thus, the data lend support to the existence of species-specific subcellular processes governing the function and/or organization of the photoreceptor outer segment as reflected by the species-specific localization of RPGR and RPGRIP protein isoforms in this compartment, and provide a rationale for the disparity of phenotypes among species and in the human.  (+info)

Subtelomeric imbalances are a frequent cause of cytogenetic abnormalities in patients with unexplained intellectual disability. Functional disomy of Xq28 involving the methyl-CpG-binding protein 2 gene (MECP2) has been observed mostly in subtelomeric duplications. We identified three patients with functional disomy of Xq28. A female patient showed an unbalanced translocation between 12q24.33 and Xq28. Two male patients showed an unbalanced translocation between Xq27.1- Yq11.22 and a recombinant X-chromosome containing duplicated material from Xq27.1 on Xp telomere, respectively. All three patients exhibited severe developmental delay, hypotonia, seizures, and distinctive facial features, including flat nasal bridge and hypertelorism. Additionally, brain magnetic resonance imaging (MRI) showed characteristic findings in each patient, including frontal dominant brain atrophy and hypoplasia of the corpus callosum, which are common findings in patients with functional disomies of Xq28 and ...
Header}} ==Introduction== [[File:Human X chromosome.jpg,thumb,300px,Human X chromosome]] Humans have 23 pairs of chromosomes, 22 autosomes and a pair of sex chromosomes. Females have a pair of X chromosomes (46, XX) and males have one X and one [[Y_Chromosome,Y Chromosome]] (46, XY). This section of notes introduces the X chromosome and its role in development. There is a separate page discussing [[Molecular_Development_-_X_Inactivation,X Inactivation]] that occurs in female development to provide the correct gene dosage. * Genes such as Wnt-4 and DAX-1 necessary for initiation of female pathway ovary development * An early discovery (1961) was that in order to have correct levels of X chromosome gene/protein expression (gene dosage), females must inactivate a single copy of the X chromosome in each and every cell. The initiator of the X inactivation process was discovered (1991) to be regulated by a region on the inactivating X chromosome encoding an X inactive specific ...
The X chromosome in humans spans more than 153 million base pairs (the building material of DNA). It represents about 800 protein-coding genes compared to the Y chromosome containing about 70 genes, out of 20,000-25,000 total genes in the human genome. Each person usually has one pair of sex chromosomes in each cell. Females have two X chromosomes, whereas males have one X and one Y chromosome. Both males and females retain one of their mothers X chromosomes, and females retain their second X chromosome from their father. Since the father retains his X chromosome from his mother, a human female has one X chromosome from her paternal grandmother (fathers side), and one X chromosome from her mother. This inheritance pattern follows the Fibonacci numbers at a given ancestral depth. Genetic disorders that are due to mutations in genes on the X chromosome are described as X linked. The X chromosome carries hundreds of genes but few, if any, of these have anything to do directly with sex ...
Triple X syndrome, also known as trisomy X and 47,XXX, is characterized by the presence of an extra X chromosome in each cell of a female.[1] Those affected are often taller than average.[1] Usually there are no other physical differences and normal fertility.[1] Occasionally there are learning difficulties, decreased muscle tone, seizures, or kidney problems.[1] Triple X is due to a random event.[1] Triple X can result either during the division of the mothers reproductive cells or during division of cells during early development.[2] It is not typically inherited from one generation to the next.[1] A form where only a percentage of the body cells contain XXX can also occur.[1] Diagnosis is by chromosomal analysis.[3] Treatment may include speech therapy, physical therapy, and counseling.[3] It occurs in about one in every 1,000 female births.[2] It is estimated that 90% of those affected are not diagnosed as they either have no or only few symptoms.[2] It was first identified in 1959.[4] ...
The figure shows that a paternal grandmother (PGM) is more closely related to her granddaughter because the granddaughter carries a more or less exact replica of one of her X Chromosomes (the blue X chromosome in the figure) while her grandson carries neither or her X Chromosomes. Theoretically, she should prefer her granddaughter to her grandson. The maternal grandmother (MGM) is equally related to grandson and granddaughter, so she should not show favoritism. The chromosomes with red and black parts result from recombination (crossover) during meiosis.. The mother has two X chromosomes herself, so the probability of the mother passing any specific X chromosome gene to either a boy or a girl child is likewise 0.5. Therefore, the probability of any specific X chromosome gene being passed on from a maternal grandmother to a grandchild is 0.25 (0.5 x 0.5). From the standpoint of the maternal grandmother, there is no difference between grandson and granddaughter in X-chromosome relatedness and, ...
Triple X syndrome (also known as XXX syndrome, 47,XXX, and trisomy X) is a genetic condition found in girls only. Girls who have it may be taller than average, but the symptoms can vary greatly.
Most X-linked conditions are recessive. This means in an individual with two X chromosomes (many females), both copies of a gene (in other terms., one for each X chromosome) will need to have a noticeable modification or mutation whereas in an individual with one X chromosome (many men), just one content of the gene will need to have a mutation. A lady with a mutation in a single content of a gene regarding the X chromosome is reported to be a carrier for an X-linked condition. A male having a mutation in a gene regarding the X chromosome is normally impacted using the condition. Because females have actually two copies for the X chromosome and men have actually just one X chromosome, X-linked diseases that are recessive more prevalent among men than females. Nevertheless, X-linked recessive conditions can take place in both men and women.. For X-linked recessive problems, an unaffected provider mom whos got a mutation in a gene in the X chromosome can transfer either the X chromosome using ...
A UCLA study revealed that a gene on the X chromosome may help explain why more women than men develop multiple sclerosis and other autoimmune diseases. Researchers found that a gene known as Kdm6a was expressed more in womens immune cells than in mens, and expressed more in female mice than in males.
Chapel Hill, NC - In a study published this week, a group of scientists including University of North Carolina (UNC) biologist Dr. Jason Lieb, present experiments supporting a long-standing hypothesis that explains how males can survive with only one copy of the X chromosome. The finding provides clarity to a hotly debated topic in science…
If the Father provided a Y chromosome then the genotype would be 46XY and the child would be male Boys with Klinefelters syndrome have an extra X chromosome making their genotype 47XXY. The additional X chromosome can come from either parent.. I set out some diagrams in a word document to help explain this point. Unfortunately much as I have tried I can not publish them onto here!? ...
Newsroom.ucla.edu UCLA scientists have discovered one reason why autoimmune diseases are more prevalent in women than in men. While males inherit their mothers X chromosome and fathers Y chromosome, females inherit X chromosomes from both parents. New research, which shows differences in how each of those X chromosomes is regulated, suggests that the X chromosome that females get from their father may help to explain their more active immune system.
Klinefelter syndrome is caused by an additional X chromosome.. This chromosome carries extra copies of genes, which interfere with the development of the testicles and mean they produce less testosterone (male sex hormone) than usual.. The extra genetic information may either be carried in every cell in the body or it may only affect some cells (known as mosaic Klinefelter syndrome).. Klinefelter syndrome is not directly inherited - the additional X chromosome occurs as a result of either the mothers egg or the fathers sperm having the extra X chromosome (an equal chance of this happening in either), so after conception the chromosome pattern is XXY rather than XY.. This change in the egg or sperm seems to happen randomly. If you have a son with the condition, the chances of this happening again are very small.. But the risk of a woman having a son with Klinefelter syndrome may be slightly higher if the mother is over 35 years of age.. ...
Hello, Im sorry Im posting my question here, but I have no idea where the questions on the X chromosome lie. :rolleyes2::rolleyes2: I was just wondering how it was possible that I would not share any segment of the X chromosome with my grandmother? Its usual ? Yet I share 20% of my DNA with her, but nothing in the X chromosome, it seemed weird. If you have an explanation for me, I searched but I can not find anything. Thank you so much ! :heart:
Klinefelters Syndrome is the most frequent sex chromosomal genetic disorder and is caused by the presence of an extra X chromosome.
A recent study in chimpanzees reported an excess of dN/dS compared with pN/pS on the X chromosome but not on autosomes [15]. This result was interpreted as the consequence of a higher rate of fixation of partial recessive beneficial alleles on the X chromosome, again a consequence of hemizygosity. To evaluate this result in humans, we computed the DoS statistic for each human chromosome. A positive value of the DoS (excess of dN/dS relative to pN/pS) is indicative of positive selection while a negative DoS reflects the influence of purifying selection. We report that the human X chromosome does indeed have a higher DoS than the autosomes (−0.134 versus −0.171 for X chromosome and median autosomes, respectively). Some autosomes have, however, a DoS very close to that of the X chromosome, for example, chromosome 21 (DoS = −0.129) and chromosome 14 (DoS = −0.139). Moreover, the confidence interval on DoS, estimated by bootstrapping genes within chromosomes (1000 replicates), was very large ...
The X chromosome lives a genetic and genealogical life all of its own because of its unique inheritance properties which vary depending on whether you are a male and inherit the X only from your mother, or a female an inherit an X chromosome from both parents. Because of this, its a great, and often…
Chromosome X: Genes, Leukemias, Solid Tumors, and Cancer-Prone Diseases located on Chromosome X reviewed and published in the Atlas of Genetics and Cytogenetics in Oncology and Haematology
The most common form of EDMD is X-linked. This means that the changed gene is on the X chromosome. Chromosomes contain genes and are in the nucleus of your cells. Only boys get this form of EDMD. Girls have two X chromosomes, one from each parent. Boys get one X chromosome from their mother and a Y chromosome from their father. Because a boy only has 1 copy of the changed gene, a mutation means that he will not have enough of the protein to keep his muscles working well. A girl with the gene defect usually gets enough normal protein from her other X chromosome. But she will be a carrier for the mutation and can pass it on to her children.. ...
Gold Star Triple X, the original DMHA pre workout, is back with a band in this ramped up 2017 edition featuring phenylpiracetam and eria jarensis too!
This weeks Nature has a picture of the X chromosome on the cover. The issue has two articles on the topic. The first contains an analysis of the recently completed sequence. As I wrote before on the Y chromosome, women have two copies of the X. Previously, it had been thought that one was suppressed…
The X chromosome carries around 2000 genes and makes up about 5% of the total DNA in women and 2.5% in men. Alterations or mutations of these genes leads to disorders that are termed X-linked diseases.
A few days ago I discussed a new paper which explores the patterns of natural selection in the genome of the X chromosome. As you know the X is carried disproportionately by females, as males have only one copy, so it offers up an interesting window into evolutionary dynamics (see The Red Queen for a popular treatment).
Producing brightly speckled red and green snapshots of many different tissues, Johns Hopkins researchers have color-coded cells in female mice to display which of their two X chromosomes has been made inactive, or
Two risk factors that place males at greater risk for heart disease than women appear to be influenced by genes on the X chromosome, report researchers at the NIH and the University of Texas Southwestern Medical School.
Randomly, one of two X/X chromosomes is deactivated {for gene balancing (males have only one X chromosome )}. Because one X comes from mother and one from father, they may have different alleles. Thus, a clone of tissue produced from ancestral cell with, say, fathers deactivated X chromosome will have different genotype than a clone produced from the ancestral cell with deactivated mothers X chromosome ...
Background: Although both the mothers and fathers alleles are present in the offspring, they may not operate at the same level. These parent-of-origin (PoO) effects have not yet been explored on the X chromosome, which ...
This course will explore a diverse collection of striking biological phenomena associated with the X chromosome. We will examine the genetic basis and
Nearly every girl and woman on Earth carries two X chromosomes in each of her cells -- but one of them does (mostly) nothing. Do you know why?
In order for a male to express a recessive sex-linked trait that is located on X chromosomes, he must have _______________________________. an...
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Why women are disproportionately affected by autoimmune disease is not fully known or understood, although the hypotheses are numerous. Some research suggests that estrogen may help antibody production and immune system response, but can also lead to an overly active immune system. Other research indicates that genes on the X chromosomes may play a role in these immune system mutinies, and women - who have two X chromosomes - may thus be at an increased risk over men who have only one X chromosome ...
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Genomic imprinting is one of the well-known epigenetic factors causing the association between traits and genes, and has generally been examined by detecting parent-of-origin effects of alleles. A lot of methods have been proposed to test for parent-of-origin effects on autosomes based on nuclear families and general pedigrees. Although these parent-of-origin effects tests on autosomes have been available for more than 15 years, there has been no statistical test developed to test for parent-of-origin effects on X chromosome, until the parental-asymmetry test on X chromosome (XPAT) and its extensions were recently proposed. However, these methods on X chromosome are only applicable to nuclear families and thus are not suitable for general pedigrees. In this article, we propose the pedigree parental-asymmetry test on X chromosome (XPPAT) statistic to test for parent-of-origin effects in the presence of association, which can accommodate general pedigrees. When there are missing genotypes in some
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.. Humans have 46 chromosomes, which contain all of a persons genes and DNA. Two of these chromosomes, the sex chromosomes, determine a person?s gender. Both of the sex chromosomes in females are called X chromosomes. (This is written as XX.) Males have an X and a Y chromosome (written as XY). The two sex chromosomes help a person develop fertility and the sexual characteristics of their gender.. Most often, Klinefelter syndrome is the result of one extra X (written as XXY). Occasionally, variations of the XXY chromosome count may occur, the most common being the XY/XXY mosaic. In this variation, some of the cells in the males body have an additional X chromosome, and the rest have the normal XY chromosome count. The percentage of cells containing the extra chromosome varies from case to case. In some instances, XY/XXY mosaics may have enough normally functioning ...
Supplement In humans, the sex chromosomes are the X chromosome and the Y chromosome. The basis of sex determination in humans is on the pair of sex chromosomes present in an individual. For instance, the presence of two X chromosomes characterizes a female whereas the presence of one X chromosome and one Y chromosome is a characteristic of a male. There are instances though when certain individuals have a different set of chromosomal composition. One of them is an individual with XXY chromosomes. This genetic condition is referred to as Klinefelter syndrome. Klinefelter syndrome is a genetic condition characterized by the presence of at least one extra X chromosome in males. The condition may not be detected early on since most of the symptoms become noticeable at puberty. Males with this condition have less body hair, weaker muscles, greater height, enlarged breasts, broader hips, and small testes. Many of these symptoms are associated with less testosterone produced in males with Klinefelter ...
To our knowledge, this is the first study of X chromosome compensatory expression upregulation in sheep. We conclude that X chromosome upregulation was present, but largely partial. Additionally, X chromosome upregulation in fetal organs was not affected by the different maternal diets. While a number of species, both invertebrates and vertebrates, have been examined for their X:A ratios, whether X expression is globally upregulated is still highly debated [reviewed in (Gu and Walters 2017)]. Recent studies in therian mammals, including the human, mouse, bovine, and non-human primates mostly support the partial X chromosome upregulation conclusion with X:A ratio being close to 1 (Gu and Walters 2017; Duan et al., 2016; Ka et al., 2016). Our findings here contribute to the consensus of partial X chromosome upregulation in a new species.. The estimation of X:A ratios differs when different gene subgroups and different tissues are analyzed, thus resulting in completely different conclusions over ...
Ive made an X chromosome model that predicts shared X DNA percentages and ranges for various ancestors, but I havent yet calculated ranges for siblings or any other relatives. Anyway, this is a simple probability question.. Sometimes people get a certain axiom reversed and it isnt necessarily true anymore. The correct axiom is that two sisters who dont share one full X chromosomes (out of two copies each) cannot share a father, i.e. they must be half-sisters who share a mother. The way to get it backwards is to say that, if two sisters share one full copy of an X chromosome, that they must share a father. Now, I dont know what the probability is of an exception occurring to the incorrectly-stated axiom, but I know it isnt zero, and we can probably get a good approximation of the percentage.. 14% of the time the X chromosome doesnt recombine in mothers. This means, if were assuming that events are independent, the chances that any two siblings will have X chromosomes that werent ...
In species with chromosomal sex determination, X chromosomes are predicted to evolve faster than autosomes because of positive selection on recessive alleles or weak purifying selection. We investigated X chromosome evolution in Stegodyphus spiders that differ in mating system, sex ratio, and population dynamics. We assigned scaffolds to X chromosomes and autosomes using a novel method based on flow cytometry of sperm cells and reduced representation sequencing. We estimated coding substitution patterns (dN/dS) in a subsocial outcrossing species (S. africanus) and its social inbreeding and female-biased sister species (S. mimosarum), and found evidence for faster-X evolution in both species. X chromosome-to-autosome diversity (piX/piA) ratios were estimated in multiple populations. The average piX/piA estimates of S. africanus (0.57 [95% CI: 0.55-0.60]) was lower than the neutral expectation of 0.75, consistent with more hitchhiking events on X-linked loci and/or a lower X chromosome mutation ...
X-Linked Mental Retardation Type 98 (X-Linked Mental Retardation Type Cantagrel): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis.
Background: The haplotypes of the X chromosome are accessible to direct count in males, whereas the diplotypes of the females may be inferred knowing the haplotype of their sons or fathers. Here, we investigated: 1) the possible large-scale haplotypic structure of the X chromosome in a Caucasian population sample, given the single-nucleotide polymorphism ( SNP) maps and genotypes provided by Illumina and Affimetrix for Genetic Analysis Workshop 14, and, 2) the performances of widely used programs in reconstructing haplotypes from population genotypic data, given their known distribution in a sample of unrelated individuals. Results: All possible unrelated mother-son pairs of Caucasian ancestry ( N = 104) were selected from the 143 families of the Collaborative Study on the Genetics of Alcoholism pedigree files, and the diplotypes of the mothers were inferred from the X chromosomes of their sons. The marker set included 313 SNPs at an average density of 0.47 Mb. Linkage disequilibrium between ...
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In a systematic sequencing screen of the coding exons of the X chromosome in 250 families with X-linked mental retardation (XLMR), we identified two nonsense mutations and one consensus splice-site mutation in the AP1S2 gene on Xp22 in three families. Affected individuals in these families showed mild-to-profound mental retardation. Other features included hypotonia early in life and delay in walking. AP1S2 encodes an adaptin protein that constitutes part of the adaptor protein complex found at the cytoplasmic face of coated vesicles located at the Golgi complex. The complex mediates the recruitment of clathrin to the vesicle membrane. Aberrant endocytic processing through disruption of adaptor protein complexes is likely to result from the AP1S2 mutations identified in the three XLMR-affected families, and such defects may plausibly cause abnormal synaptic development and function. AP1S2 is the first reported XLMR gene that encodes a protein directly involved in the assembly of endocytic vesicles.
Causes of X chromosome, trisomy Xq including triggers, hidden medical causes of X chromosome, trisomy Xq, risk factors, and what causes X chromosome, trisomy Xq.
Do You Have X Chromosome, Monosomy Xp22 Pter? Join friendly people sharing true stories in the I Have X Chromosome, Monosomy Xp22 Pter group. Find support forums, advice and chat with groups who share this life experience. A X Chromosome, Monosomy Xp...
Klinefelter syndrome is the genetic disorder where a boy is born with more than one X chromosomes. Most males have one X and one Y chromosome. Having extra X chromosomes leads to having certain physical traits unusual for males. This is the forum for discussing anything related to this health condition
Humans have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. The two sex chromosomes determine if you become a boy or a girl. Females normally have two XX chromosomes. Males normally have an X and a Y chromosome. Klinefelter syndrome is one of a group of sex chromosome problems. It results in males who have at least one extra X chromosome. Usually, this occurs due to one extra X. This would be written as XXY. Klinefelter syndrome occurs in about 1 out of 500 - 1,000 newborn boys. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. ...
In 1942, Klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. In 1959, these men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual male sex complement (genotype XY).
Klinefelter syndrome, also known as the XXY condition, is a term used to describe males who have an extra X chromosome in most of their cells.
What is Klinefelters Syndrome? Klinefelters Syndrome is a genetic disorder first discoverd by Harry Klinefelter in 1942. It is caused by an extra X ch...
Learn how having an extra chromosome produces a genetic disorder known as Klinefelters syndrome, 47,XXY or XXY syndrome. Cause, symptoms and treatment of Klinefelters syndrome
An early discovery (1961) was that in order to have correct levels of X chromosome gene/protein expression (gene dosage), females must inactivate a single copy of the X chromosome in each and every cell. The initiator of the X inactivation process was discovered (1991) to be regulated by a region on the inactivating X chromosome encoding an X inactive specific transcript (XIST), that acts as RNA and does not encode a protein ...
A study from a team of Massachusetts General Hospital (MGH) investigators points toward a potential strategy for treating X-linked disorders - those caused by mutations in the X chromosome - in females.
A study from a team of Massachusetts General Hospital (MGH) investigators points toward a potential strategy for treating X-linked disorders - those caused by mutations in the X chromosome - in females.
Alport syndrome is much more common in boys and men because the gene that usually causes it (called COL4A5) is on the X chromosome. Women have two X chromosomes (XX), so they usually have a normal copy as well as an abnormal copy of the gene. Men have only one X chromosome (XY), so if they have a problem with the COL4A5 gene, that is their only copy. Boys who inherit the disease in this way must inherit it from their mother (as the mother contributes the X chromosome and the father the Y). Women who carry the disease on one of their X chromosomes may have minor kidney trouble, such as blood or protein in the urine with high blood pressure, but occasionally get severe disease and develop kidney failure.. In other families the gene involved (COL4A3 and COL4A4) is on another chromosome. In this case, men and women are equally affected, but otherwise the disease seems the same.. ...
Chromosomes are long, threadlike structures of DNA. A male has one X and one Y sex chromosome, and a female has two X chromosomes. A sex-linked disorder is caused by a mutation in a gene on the X chromosome. As males only have one copy of each gene on the X chromosome, theyll be affected if one of those genes is mutated. As females have two copies of the X chromosome, theyre less likely to develop an X-linked condition, because the normal copy of the chromosome can usually cover for (mask) the altered version. Females can still be affected by X-linked disorders, but the condition is usually less severe than when the gene alteration is present in an affected male.. Types of MD inherited in this way include Duchenne MD and Becker MD, which is why these conditions are more common and more severe in males.. ...
Calico cats, renowned and beloved for their funky orange and black patchwork or tortoiseshell fur, can thank X chromosome inactivation or silencing for their unique look.
A genetic syndrome in many mammals caused by the presence of an extra X chromosome in the male (normally XY) karyotype. In humans, this syndrome is characterized by small testes, feminine appearance, sterility (except in the case of genetic mosaics) and possibly mental retardation. In domestic cats, male calicos always have this genetic condition ...
✅ Answered - [One] [Two] [three] [None] are the options of mcq question A woman has a child with Klinefelters syndrome. Number of barr bodies present in the child is realted topics , Genetic basis of Inheritance, Genetic basis of Inheritance topics with 0 Attempts, 0 % Average Score, 2 Topic Tagged and 0 People Bookmarked this question which was asked on Feb 23, 2019 23:23
Scientists expose the X chromosomes complete genetic sequence. New research shows how the X and Y chromosomes evolved from a pair of regular chromosomes 300 million years ago.
Semantic Scholar extracted view of Three unusual trisomic patterns in children. Triple X plus triple E-triple X mosaic: normal XY-D trisomy mosaic; partial trisomy with E translocation. by Emerson Engel et al.
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X chromosome, trisomy Xpter Xq13 information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Breast cancer in a patient with Klinefelters syndrome is reported. Possible correlation between testosterone and estradiol serum levels after testosterone-enanthate substitution, estrogen receptors in tumor tissue and clinical symptomatology are discussed. The various theories of etiology concernin …
The addition of a chemical tag on an RNA molecule is the critical switch that inactivates one X chromosome in every cell, ensuring healthy development in all female mammals, according to new research by Weill Cornell Medicine ...
If you want to celebrate womanliness everyday, these cute little two X chromosomes in pussyhat will be perfect! They are made of 100% acrylic yarn and the come in any color you want. Theyll be a great accent on your desk and for sure a conversation piece in your home. This is the perfect gift for all women in your life, for your scientist friend, for your biology teacher or just as a treat for yourself!
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Although the current human reference genome is the most accurate and complete vertebrate genome ever produced, there are still gaps in the DNA sequence,
syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and mental retardation; a genetic defect in which an extra X chromosome (XXY) is present in the male. ...
X chromosome abnormalities. Abnormal or missing parts of one of the X chromosomes can occur. Cells have one complete and one altered copy. This error can occur in the sperm or egg with all cells having one complete and one altered copy. Or the error can occur in cell division in early fetal development so that only some cells contain the abnormal or missing parts of one of the X chromosomes (mosaicism ...
Anu asked the Naked Scientists: Could you inject a donor x-chromosome into a recipient ovum? What would happen? What do you think?
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Here is a perfect example of what ZNT Triple X daughters are doing in the herds. This is a Sept 2011 Breathe Easy Heifer out of a ZNT Triple X x The Bachelor first calf heifer. She is very sound, plenty of thickness, and soft made. She is a 1/2 Maine heifer that has steer mama written all over her. She may be the best deal to come across the internet all summer. Heifer is located in Rhome, TX. Price is $2500 for immediate pick-up, or $3000 guaranteed A.I. bred to the bull of buyers choice by Jan 1, 2013. ...
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When using autosomal DNA for genetic genealogy, the X chromosome is a powerful tool with special inheritance properties. Many people think that mitochondrial DNA is the same as the X chromosome. Its not. Mitochondrial DNA is inherited maternally, only. This means that mothers give their mitochondrial DNA to all of their children, but only the…
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I got ten mosquito bites in the time it took me to check my rs309375 genotype. wp.me/pqWMQ-18g via @wordpressdotcom 2 years ago ...
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MAD to human chromosome 2 and mouse chromosome 6, and MXI1 to human chromosome 10 and mouse chromosome 19". Oncogene. 9 (2): ... MAX-interacting protein 1 is a protein that in humans is encoded by the MXI1 gene. Expression of the c-myc gene, which produces ... MXI1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) FactorBook Mxi1 This article ... Wechsler DS, Hawkins AL, Li X, Jabs EW, Griffin CA, Dang CV (Nov 1994). "Localization of the human Mxi1 transcription factor ...
ELKS/RAB6-interacting/CAST family member 1 is a protein that in humans is encoded by the ERC1 gene. The name ELKS is derived ... Genes Chromosomes Cancer. 25 (2): 97-103. doi:10.1002/(SICI)1098-2264(199906)25:2. 3.0.CO;2-L. PMID 10337992. Kikuno R, Nagase ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from ...
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DDIT3+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ... Chromosomes & Cancer. 5 (4): 278-85. doi:10.1002/gcc.2870050403. PMID 1283316. S2CID 1998665. Park JS, Luethy JD, Wang MG, ... Crozat A, Aman P, Mandahl N, Ron D (June 1993). "Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma". ... Ma R, Yang L, Niu F, Buch S (January 2016). "HIV Tat-Mediated Induction of Human Brain Microvascular Endothelial Cell Apoptosis ...
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The egfl7 gene is located on chromosomes 9 and 2 in human and mouse, respectively, and is structured in 11 exons and introns, ... "Deregulated expression of miR-106a predicts survival in human colon cancer patients". Genes Chromosomes Cancer. 47 (9): 794-802 ... EGF-like domain-containing protein 7 is a protein that in humans is encoded by the EGFL7 gene. Intron 7 of EGFL7 hosts the miR- ... In vitro, the Egfl7 protein inhibits human aortic smooth muscle cells migration stimulated by PDGF-BB but has no effects on ...
... and functional analysis of a novel human cDNA (BNIP3L) encoding a protein homologous to human NIP3". Genes Chromosomes Cancer. ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... Human BNIP3L genome location and BNIP3L gene details page in the UCSC Genome Browser. Chen G, Cizeau J, Vande Velde C, Park JH ... BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like is a protein that in humans is encoded by the BNIP3L gene. This ...
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"Molecular mechanisms underlying human synovial sarcoma development". Genes, Chromosomes & Cancer. 30 (1): 1-14. doi:10.1002/ ... Protein SSX5 is a protein that in humans is encoded by the SSX5 gene. The product of this gene belongs to the family of highly ... GRCh38: Ensembl release 89: ENSG00000165583 - Ensembl, May 2017 "Human PubMed Reference:". National Center for Biotechnology ... Chromosomes & Cancer. 34 (3): 285-98. doi:10.1002/gcc.10073. PMID 12007189. Güre AO, Wei IJ, Old LJ, Chen YT (October 2002). " ...
2003). "Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse". Genes Chromosomes ... RING finger protein 135 is a protein that in humans is encoded by the RNF135 gene. The protein encoded by this gene contains a ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40-5. doi:10.1038/ ...
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In humans it is located on chromosome 13q14. The DLEU2 gene was originally identified as a potential tumour suppressor gene and ... "DLEU2 encodes an antisense RNA for the putative bicistronic RFP2/LEU5 gene in humans and mouse". Genes, Chromosomes & Cancer. ... "Comparative sequence analysis of a region on human chromosome 13q14, frequently deleted in B-cell chronic lymphocytic leukemia ... Deleted in lymphocytic leukemia 1 (non-protein coding) is a long non-coding RNA that in humans is encoded by the DLEU2 gene. ...
The Human Protein Atlas. Retrieved 28 February 2014. Thompson DA, Weigel RJ (October 1998). "hAG-2, the human homologue of the ... Agr2 is located on chromosome 7p21, a region that has frequent genetic alterations. It was first identified in estrogen ... Galligan JJ, Petersen DR (July 2012). "The human protein disulfide isomerase gene family". Human Genomics. 6 (1): 6. doi: ... Human AGR2 genome location and AGR2 gene details page in the UCSC Genome Browser. Zhang JS, Gong A, Cheville JC, Smith DI, ...
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Zinc finger Y-chromosomal protein is a protein that in humans is encoded by the ZFY gene of the Y chromosome. This gene encodes ... Müller G, Schempp W (April 1989). "Mapping the human ZFX locus to Xp21.3 by in situ hybridization". Human Genetics. 82 (1): 82- ... In mice, Zfy genes are necessary for meiotic sex chromosome inactivation (MSCI). In Zfy knockout spermatocytes, sex chromosomes ... "The sex-determining region of the human Y chromosome encodes a finger protein". Cell. 51 (6): 1091-104. doi:10.1016/0092-8674( ...
"Localization of the candidate tumor suppressor gene ING1 to human chromosome 13q34". Somatic Cell and Molecular Genetics. 23 (3 ... ING1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ... Inhibitor of growth protein 1 is a protein that in humans is encoded by the ING1 gene. This gene encodes a tumor suppressor ... Garkavtsev I, Riabowol K (Apr 1997). "Extension of the replicative life span of human diploid fibroblasts by inhibition of the ...
The gene for TTC39A is located on the first chromosome at 1p32.3. The genomic DNA is 57,859 bases long, consists of 19 exons ... TTC39A is a highly expressed protein in the human body. The highest levels of expression are located in mammary glands and ... The gene for KIAA0452 is also located on the first chromosome at 1p32.3. The genomic DNA is 34,096 bases long, consists of 11 ... DUF 3808 is generally considered to be an outer mitochondrial membrane protein and has been conserved from fungi to humans. DUF ...
Wang W, Peng B, Wang D, Ma X, Jiang D, Zhao J, Yu L (October 2011). "Human tumor microRNA signatures derived from large-scale ... Chromosomes & Cancer. 48 (7): 615-23. doi:10.1002/gcc.20669. PMID 19396864. S2CID 22482567. Page for mir-345 microRNA precursor ... Human Molecular Genetics. 18 (24): 4818-29. doi:10.1093/hmg/ddp446. PMID 19776030. Guled M, Lahti L, Lindholm PM, Salmenkivi K ... a methylation-sensitive microRNA is involved in cell proliferation and invasion in human colorectal cancer". Carcinogenesis. 32 ...
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 978-1-4051-9087-9. The addition of a Y chromosome to a normal male chromosome constitution does not produce a discernible ...
"Smallest region of overlapping deletion in 1p36 in human neuroblastoma: a 1 Mbp cosmid and PAC contig". Genes, Chromosomes & ... In humans it is encoded by the ZBTB48 gene. Loss of ZBTB48 has been shown to lead to telomere elongation both in cells with ... ZBTB48 localizes to chromosome 1p36, a region that is frequently rearranged (leiomyoma & leukaemia) or deleted (neuroblastoma, ... Maris JM, Jensen J, Sulman EP, Beltinger CP, Allen C, Biegel JA, Brodeur GM, White PS (October 1997). "Human Krüppel-related 3 ...
"Frequent DNA hypomethylation of human juxtacentromeric BAGE loci in cancer". Genes, Chromosomes & Cancer. 43 (1): 11-24. doi: ... MAPK/MAK/MRK overlapping kinase is an enzyme that in humans is encoded by the RAGE gene. GRCh38: Ensembl release 89: ... "A new gene coding for an antigen recognized by autologous cytolytic T lymphocytes on a human renal carcinoma". Immunogenetics. ... "Requirement of HMGB1 and RAGE for the maturation of human plasmacytoid dendritic cells". European Journal of Immunology. 35 (7 ...
Human ASAH1 genome location and ASAH1 gene details page in the UCSC Genome Browser. Perry DK, Hannun YA (December 1998). "The ... Chromosomes & Cancer. 29 (2): 137-46. doi:10.1002/1098-2264(2000)9999:9999<::AID-GCC1018>3.0.CO;2-E. PMID 10959093. Strelow A, ... Okino N, He X, Gatt S, Sandhoff K, Ito M, Schuchman EH (August 2003). "The reverse activity of human acid ceramidase". The ... Seelan RS, Qian C, Yokomizo A, Bostwick DG, Smith DI, Liu W (October 2000). "Human acid ceramidase is overexpressed but not ...
"Human Chromosomal Abnormalities: Sex Chromosome Abnormalities". anthro.palomar.edu. Archived from the original on 2016-03-02. ... Turner Syndrome is a result from one of female sex chromosome abnormalities. Females inherit only one X chromosome (genotype is ... XYY Syndrome is also a syndrome resulting from a male sex chromosome abnormality. Males inherit an extra Y chromosome (genotype ... The purely biological level of classifications includes chromosomes, which categorize female sex chromosome abnormalities and ...
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" ...
This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by expanding it. ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. ... "Effects of native human zona pellucida glycoproteins 3 and 4 on acrosome reaction and zona pellucida binding of human ... I. Studies with recombinant human ZPA, ZPB, and ZPC". Fertil. Steril. 83 (6): 1780-90. doi:10.1016/j.fertnstert.2004.12.042. ...
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 ...
ENCODE: the complete analysis of the human genome. References[change , change source]. *↑ Hans Winkler, Professor of Botany at ... "I propose the expression genome for the haploid chromosome set, which, together with the pertinent protoplasm, specifies the ... However, no single haploid chromosome set defines even the DNA of a species. Because of the huge variety of alleles carried by ... The genome of a haploid chromosome set is merely a sample of the total genetic variety of a species. ...
... 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 ...
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 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 ...
First human chromosome is sequenced BMJ 1999; 319 :1453 doi:10.1136/bmj.319.7223.1453a ... The sequence of the first human chromosome to be decoded has been announced this week, with the publication in Nature of the ... First human chromosome is sequenced. BMJ 1999; 319 doi: https://doi.org/10.1136/bmj.319.7223.1453a (Published 04 December 1999) ... DNA sequence for chromosome 22. The publication is the first milestone in the human genome project-a worldwide collaborative ...
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: https://doi.org/10.1136/bmj.2.5259.1052 ( ...
... 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 ...
... 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 ...
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 ...
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. (newswise.com)
  • 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. (newswise.com)
  • 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. (newswise.com)
  • HACs essentially function as new mini-chromosomes carrying engineered sets of genes that are inherited alongside a cell's natural set of chromosomes. (eurekalert.org)
  • Do homologous pairs of chromosomes carry the same genes? (reference.com)
  • Although the chromosomes carry the same genes, each chromosome in a homologous pair could carry a dif. (reference.com)
  • Analysis of the chromosome revealed 127 known genes, 98 predicted genes and 59 pseudogenes. (nih.gov)
  • 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. (freerepublic.com)
  • As far as looking at specific genes, the chimp and human Y chromosomes had a dramatic difference in gene content of 53 percent. (freerepublic.com)
  • In other words, the chimp was lacking approximately half of the genes found on a human Y chromosome. (freerepublic.com)
  • The human Y chromosome contains a third more gene categories--entirely different classes of genes--compared to chimps. (freerepublic.com)
  • 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. (freerepublic.com)
  • 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. (diabetesjournals.org)
  • 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. (diabetesjournals.org)
  • 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 . (news-medical.net)
  • 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. (news-medical.net)
  • 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. (news-medical.net)
  • 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. (news-medical.net)
  • 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. (news-medical.net)
  • Identifying genes on each chromosome is an active area of genetic research. (bionity.com)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (bionity.com)
  • Chromosome 22 likely contains between 500 and 800 genes. (bionity.com)
  • Chromosome 13 likely contains between 300 and 700 genes. (bionity.com)
  • Human chromosome 12 contains more than 1,400 coding genes and 487 loci that have been directly implicated in human disease. (uniprot.org)
  • Human One of the threadlike 'packages' of genes and other DNA in the nucleus of a cell. (godandscience.org)
  • alleles (alternate forms of the same gene) of closely linked Multiple places on a chromosome where specific genes or genetic markers are located, a kind of address for the gene. (godandscience.org)
  • The chromosomes are all of different sizes and contain varying number of genes. (brighthub.com)
  • 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. (wikipedia.org)
  • 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. (icr.org)
  • Chromosomes are double-stranded DNA molecules and contain genes on both strands that are encoded in opposite directions. (icr.org)
  • These DDX11L2 RNA transcripts are produced in at least 255 different cell types and tissues in humans, highlighting the genes' ubiquitous biological function. (icr.org)
  • 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). (bio.net)
  • Calin GA, Sevignani C, Dumitru CD et al (2004) Human microRNA genes are frequently located at fragile sites and genomic regions involved in cancers. (springer.com)
  • 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. (le.ac.uk)
  • The idea all along, through this molecular anthropology approach that [emeritus professor of genetics] Luca Cavalli-Sforza pioneered, is to look at the genetic history of genes and see if we can infer or deduce something about human history and human populations. (stanford.edu)
  • Some genes that were thought to be lost from the Y chromosome have actually relocated to the autosomes. (genome.gov)
  • genes are expressed, makes us human. (godandscience.org)
  • 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 ). (wikidoc.org)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikidoc.org)
  • 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. (europa.eu)
  • 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. (europa.eu)
  • 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. (statemaster.com)
  • 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. (harvard.edu)
  • Students randomly select jelly beans (or other candy) that represent genes for several human traits such as tongue-rolling ability and eye color. (teachengineering.org)
  • We can also transfect human genes into mice for developmental study. (hstalks.com)
  • 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. (hstalks.com)
  • 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. (diva-portal.org)
  • 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. (diva-portal.org)
  • 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. (diva-portal.org)
  • Homologous chromosomes are very similar in sequence and have the same genes, but may contain different alleles of those genes (Figure 3.3). (coursehero.com)
  • Genes on homologous chromosomes have the same location, or loci. (coursehero.com)
  • 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. (lu.se)
  • 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. (lu.se)
  • The identification of all human chromosome 21 (HC21) genes is a necessary step in understanding the molecular pathogenesis of trisomy 21 (Down syndrome). (epfl.ch)
  • As of 2014, there are about 150 imprinted genes known in the mouse and about half that in humans. (wikipedia.org)
  • In 2019, 260 imprinted genes have been reported in mice and 228 in humans. (wikipedia.org)
  • 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. (wikipedia.org)
  • 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. (springer.com)
  • 1. Chromosome banding patterns provide independent confirmation of relationship in hominids, in addition to anatomical, physiological, genetic, and molecular evidence. (indiana.edu)
  • 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. (pbs.org)
  • 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. (pbs.org)
  • While the genetic similarity between human and ape strengthened Darwin's theory, a significant, unexplained discrepancy remained. (pbs.org)
  • The "suppressed-recombination" model of speciation points out that chromosome rearrangements act as a genetic filter between populations. (pnas.org)
  • Mutations associated with the rearranged chromosomes cannot flow from one to another population, whereas genetic exchange will freely occur between colinear chromosomes. (pnas.org)
  • The publication is the first milestone in the human genome project-a worldwide collaborative effort to decipher the complete genetic code. (bmj.com)
  • Abnormalities in the number of chromosomes may result in genetic defects or serious he. (reference.com)
  • 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. (nih.gov)
  • 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. (genomenewsnetwork.org)
  • Chimpanzees are our closest genetic relatives, and the chromosome sequences match up remarkably well. (genomenewsnetwork.org)
  • 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. (eurekalert.org)
  • these transferred chromosomes were maintained as functioning genetic elements in the hybrid cells. (pnas.org)
  • Our results firmly establish subnuclear particle-mediated chromosome transfer as a valid somatic cell genetic tool. (pnas.org)
  • 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. (news-medical.net)
  • 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. (news-medical.net)
  • 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). (amamanualofstyle.com)
  • A small extra chromosome is made up of genetic material from chromosome 22 that has been abnormally duplicated (copied). (bionity.com)
  • This is accomplished by truncating the natural chromosome, followed by the introduction of unique genetic material via the Cre-Lox system of recombination. (wikipedia.org)
  • Please see Pattern and process in human genetic diversity: from genomes to populations for information about my current Fellowship project. (le.ac.uk)
  • So reads their genetic story, say Stanford researchers, as written in the DNA that comprises the Y chromosomes of their modern-day descendants. (stanford.edu)
  • The genetic data also revealed that there were at least two migrations of modern humans into the Americas. (stanford.edu)
  • The two scientists are continuing to analyze DNA from more people in addition to studying DNA markers on other chromosomes to sharpen their genetic picture of our earliest human ancestors. (stanford.edu)
  • There is not one genetic system to explain the entire history of the human genome," said Underhill. (stanford.edu)
  • 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. (archaeology.org)
  • The human Y chromosome exhibits surprisingly low levels of genetic diversity. (blogspot.com)
  • 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. (blogspot.com)
  • 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. (godandscience.org)
  • 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. (genetics.org)
  • Phys.org) -University of Arizona geneticists have discovered the oldest known genetic branch of the human Y chromosome - the hereditary factor determining male sex. (phys.org)
  • 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. (phys.org)
  • 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. (phys.org)
  • 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. (phys.org)
  • Recent genetic studies have identified a third locus on chromosome 12 ( MODY3 ) that is linked to MODY in a group of French families. (diabetesjournals.org)
  • 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). (sott.net)
  • 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. (springer.com)
  • 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. (bionity.com)
  • In a small percentage of cases, trisomy 13 is caused by a rearrangement of chromosomal material between chromosome 13 and another chromosome. (bionity.com)
  • 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). (bionity.com)
  • This idea was first proposed by researchers who noticed that humans and chimps share similar chromosomal staining patterns when observed under a microscope. (icr.org)
  • 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? (tehrantimes.com)
  • 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. (wikipedia.org)
  • Neither migration nor admixture are mentioned in the text, and, in my opinion, these processes have shaped modern human Y chromosomal variation. (blogspot.com)
  • Inside these vast structures chromosomal DNA is separated from bound factors and unwound to generate templates for the synthesis of daughter chromosomes. (hfsp.org)
  • 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. (apologeticspress.org)
  • 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. (pandasthumb.org)
  • 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. (pandasthumb.org)
  • 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. (uniprot.org)
  • 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. (freerepublic.com)
  • This includes 22 pairs of autosomes and one pair of sex chromosomes. (reference.com)
  • Humans have 23 pairs of chromosomes, 46 in all: 44 autosomes and two sex chromosomes. (godandscience.org)
  • 44 are autosomes, that is non-sex chromosomes and two are the sex chromosomes - X and Y. (brighthub.com)
  • Covers human autosomes and sex chromosomes. (ck12.org)
  • 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. (genetics.org)
  • The beginning of interphase cytogenetics can be attributed to significant advances in human molecular genetics and cytogenetics. (springer.com)
  • These chromosomes determine individual genetics traits as well as a person's gender. (reference.com)
  • 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. (bio.net)
  • Deciphering this chapter in the story of the Y chromosome has been the avid pursuit of Stanford researchers Peter Underhill, PhD, senior research scientist in the Department of Genetics, and Peter Oefner, PhD, senior research scientist in the Department of Biochemistry and associate director of the Stanford Genome Technology Center. (stanford.edu)
  • 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). (wikipedia.org)
  • The results are published in the American Journal of Human Genetics . (phys.org)
  • Human Genetics, Chromosomes and Alleles: What's Dominant? (teachengineering.org)
  • 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. (teachengineering.org)
  • Second, a chromosome normally has one centromere, or central point at which a chromosome's two identical strands are joined. (pbs.org)
  • Yet remnants of a second, presumably inactive centromere can be found on human chromosome 2. (pbs.org)
  • 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. (eurekalert.org)
  • 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. (eurekalert.org)
  • 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. (eurekalert.org)
  • For example, mammals depend on the CENP-A protein to specify centromere location on chromosomes for precise cell division. (eurekalert.org)
  • 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. (eurekalert.org)
  • The constricted region of linear chromosomes is known as the centromere. (genome.gov)
  • 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. (genome.gov)
  • 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. (genome.gov)
  • Chromosomes, which consist of two identical chromatids joined at a centromere (light), are composed of deoxyribonucleic acid (DNA) coiled around proteins. (sciencephoto.com)
  • Definition: Chromosome having its centromere in the middle. (humpath.com)
  • Definition: Chromosome whose centromere lies very near one end. (humpath.com)
  • The remaining break was at the centromere, a notoriously difficult region of repetitive DNA found in every chromosome. (sott.net)
  • 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? (pandasthumb.org)
  • 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. (pandasthumb.org)
  • But doesn't that mean we now need two mutations -first the fusion, then the centromere inactivation- to get a viable chromosome? (pandasthumb.org)
  • 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. (pandasthumb.org)
  • 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. (pandasthumb.org)
  • By essentially 'out-competing' the other centromere, normal segregation of the chromosomes at meiosis is achieved, without requiring two mutations. (pandasthumb.org)
  • PHILADELPHIA) - For the past 20 years, researchers have been trying to perfect the construction of human artificial chromosomes, or HACs for short. (eurekalert.org)
  • Alternative methods of creating transgenes, such as utilizing yeast artificial chromosomes and bacterial artificial chromosomes, lead to unpredictable problems. (wikipedia.org)
  • Yeast artificial chromosomes and bacterial artificial chromosomes were created before human artificial chromosomes, which were first developed in 1997. (wikipedia.org)
  • 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. (thefreedictionary.com)
  • Hypothetical model in which chimpanzee chromosomes 2A and 2B fused end-to-end to form human chromosome 2. (icr.org)
  • The similarities are striking and quite convincing that Homo sapiens chromosome 2 is the counterpart of the chimpanzee chromosomes 2A and 2B. (apologeticspress.org)
  • Two pairs of human chromosomes had been found to be fused, he said, providing clear evidence of our shared ancestry with apes. (creation.com)
  • Coloured scanning electron micrograph (SEM) of pairs of human chromosomes. (sciencephoto.com)
  • Robin Ball explains how the secret lies in X chromosome inactivation. (ck12.org)
  • 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. (springer.com)
  • Avner P, Heard E (2001) X-chromosome inactivation: counting, choice and initiation. (springer.com)
  • Chaligne R, Heard E (2014) X-chromosome inactivation in development and cancer. (springer.com)
  • The title of my talk is X Chromosome Inactivation in Human Cell. (hstalks.com)
  • I will talk to you about X chromosome inactivation, the way mammals carry out X dosage compensation. (hstalks.com)
  • 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. (hstalks.com)
  • 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. (hstalks.com)
  • The phases through which chromosomes replicate, divide, shuffle, and recombine are imperfect, as DNA is subject to random mutations. (pbs.org)
  • 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. (pnas.org)
  • The human Y-chromosome accumulates roughly two mutations per generation. (wikipedia.org)
  • Y-DNA haplogroups represent major branches of the Y-chromosome phylogenetic tree that share hundreds or even thousands of mutations unique to each haplogroup. (wikipedia.org)
  • Alternatively, selection acting on new mutations, and affecting linked neutral sites, could reduce variability on the Y chromosome. (blogspot.com)
  • 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. (blogspot.com)
  • The more mutations that differ between two Y chromosomes the farther back in time the common ancestor lived. (phys.org)
  • 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. (diabetesjournals.org)
  • In other words, humans and chimps have DNA sequences that are greater than 98 percent similar. (pbs.org)
  • 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. (pbs.org)
  • 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. (nih.gov)
  • 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. (diabetesjournals.org)
  • 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 . (genomenewsnetwork.org)
  • Telomere sequences at the ends of chromosomes are 5,000 to 15,000 bases long. (icr.org)
  • These highly purifed labeled sequences reassociate only with DNA from individuals with a Y chromosome. (sciencemag.org)
  • The purifed Y-chromosome-specific sequences may represent between 7 and 11 percent of the human Y chromosome. (sciencemag.org)
  • sequences would provide the answer to the question of why humans are so different from their closest living ancestors. (godandscience.org)
  • Genetically speaking, those species which have DNA sequences most similar to that of humans are the great apes. (apologeticspress.org)
  • 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. (blogspot.com)
  • Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. (bionity.com)
  • Trisomy 13 can also result from an extra copy of chromosome 13 in only some of the body's cells (mosaic trisomy 13). (bionity.com)
  • 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. (pnas.org)
  • For example, people with Down syndrome have three copies of chromosome 21, instead of the two copies found in other people. (genome.gov)
  • Trisomy 13 occurs when each cell in the body has three copies of chromosome 13 instead of the usual two copies. (bionity.com)
  • As a result, a person has the two usual copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. (bionity.com)
  • Humans typically have 23 pairs of chromosomes, resulting in a total of 46 chromosomes. (reference.com)
  • Humans have 22 chromosome pairs as well as two sex chromosomes, for a total of 46 chromosomes. (reference.com)
  • 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. (pbs.org)
  • 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. (pbs.org)
  • Twenty two of the chromosome pairs are similar in both males and females, and a pair of X and Y chromosomes determine the sex. (reference.com)
  • In humans and other mammals, males have one X and one Y chromosome, while females have a pair of X's. (news-medical.net)
  • Recombination is the process whereby each member of a pair of chromosomes exchange segments of DNA. (news-medical.net)
  • Each parent contributes one chromosome to each pair, so children get half of their chromosomes from their mothers and half from their fathers. (godandscience.org)
  • The impetus for this concept is the evolutionary problem that apes have an extra pair of chromosomes-humans have 46 while apes have 48. (icr.org)
  • One chromosome of each pair has replicated during cell division to form an identical copy, or chromatid. (sciencephoto.com)
  • Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. (harvard.edu)
  • 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. (harvard.edu)
  • Below are the most recent publications written about "Chromosomes, Human, Pair 3" by people in Profiles. (harvard.edu)
  • The 23rd pair, the sex chromosomes, differ between men and women. (genome.gov)
  • Human chromosome 8 pair after G-banding . (wikidoc.org)
  • Chromosome 8 pair in human male karyogram . (wikidoc.org)
  • 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. (phys.org)
  • RIKEN had sequenced human chromosome 21 in 2000 as part of the Human Genome Project. (genomenewsnetwork.org)
  • 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 . (apologeticspress.org)
  • If humans and apes shared a common ancestor, shouldn't both have the same number of chromosomes in their cells? (pbs.org)
  • As a result, the bovines produced immune cells that spit out human antibodies. (sciencemag.org)
  • If anything, they may work better because they'll be able to communicate with human immune cells more fluently, he says. (sciencemag.org)
  • Human cells are horrifyingly complex, and understanding the rules that govern DNA folding is extremely challenging," Bell said. (newswise.com)
  • Each time one of our cells divides the chromosomes condense and form distinct shapes that can be seen by a normal light microscope. (kickstarter.com)
  • We have 46 chromosomes in our cells arranged into 23 pairs. (kickstarter.com)
  • 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. (eurekalert.org)
  • Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. (genome.gov)
  • Changes in the number or structure of chromosomes in new cells may lead to serious problems. (genome.gov)
  • 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. (genome.gov)
  • The only human cells that do not contain pairs of chromosomes are reproductive cells, or gametes, which carry just one copy of each chromosome. (genome.gov)
  • When two reproductive cells unite, they become a single cell that contains two copies of each chromosome. (genome.gov)
  • 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. (genome.gov)
  • 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. (genome.gov)
  • 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. (genome.gov)
  • This leads to egg cells that unintentionally contain too few or too many (22 or 24) chromosomes--a condition known as aneuploidy. (eurekalert.org)
  • 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. (pnas.org)
  • 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 . (bionity.com)
  • 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 . (bionity.com)
  • There are 46 human chromosomes inside most cells. (brighthub.com)
  • A human artificial chromosome (HAC) is a microchromosome that can act as a new chromosome in a population of human cells. (wikipedia.org)
  • HACs were first constructed de novo in 1997 by adding alpha-satellite DNA to telomeric and genomic DNA in human HT1080 cells. (wikipedia.org)
  • 21HAC was also able to be transferred into cells from a variety of species (mice, chickens, humans). (wikipedia.org)
  • Cultivating human cells in the Petri dish is not a big challenge today. (innovations-report.com)
  • Most human cells contain 46 chromosomes, 23 inherited from the mother and 23 from the father. (sciencephoto.com)
  • 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. (sciencemag.org)
  • Men who smoke have fewer Y chromosomes in their blood cells compared to non-smokers. (genome.gov)
  • 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 . (wikidoc.org)
  • Human pluripotent stem cells offer a limitless source of cells for regenerative medicine. (jci.org)
  • Neural derivatives of human embryonic stem cells (hESCs) are currently being used for cell therapy in 3 clinical trials. (jci.org)
  • The apparent spontaneous loss of evolution toward normal senescence of somatic cells was associated with a jumping translocation of chromosome 1q. (jci.org)
  • Therefore, the 46 nuclear chromosomes, that all humans possess within their cells, are actually 23 pairs of identical chromosomes. (apologeticspress.org)
  • State the number of chromosomes in human body, sperm and egg cells. (teachengineering.org)
  • Explain why sperm and eggs cells have only half the number of chromosomes found in the body cells. (teachengineering.org)
  • First I will tell you what we know from studies of human cells and human subjects. (hstalks.com)
  • 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. (hstalks.com)
  • And now we have begun to study human ES cells, embryonic stem cells and cleaving embryos left over from in vitro fertilization. (hstalks.com)
  • 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. (thefreedictionary.com)
  • Which two cells in the human body don contain 46 chromosomes? (experts123.com)
  • The two types of cells in humans that do not contain 46 chromosomes are egg and sperm cells. (experts123.com)
  • To prepare human chromosomes for viewing (Figure 3.2a): Somatic cells are obtained from the blood. (coursehero.com)
  • A dye that binds to the chromosomes is applied to the cells. (coursehero.com)
  • thus, all somatic cells have two sets of chromosomes. (coursehero.com)
  • In diploid organisms (like humans), the somatic cells possess two copies of the genome, one inherited from the father and one from the mother. (wikipedia.org)
  • 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. (wikipedia.org)
  • Females have two X chromosomes, whereas males have one X and one Y. And, unlike the 22 pairs of non-sex chromosomes each human has, there is almost no opportunity for the Y chromosome to swap or share its DNA with another chromosome. (stanford.edu)
  • Y chromosome evolved from the One of the two sex chromosomes, carried by males (1 copy) and females (2 copies) in mammals. (godandscience.org)
  • 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. (apologeticspress.org)
  • In females, all chromosomes remain euchromatic and functional. (wikipedia.org)
  • 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. (nih.gov)
  • 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. (nih.gov)
  • This figure depicts chromosome segregation errors in meiosis. (eurekalert.org)
  • 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. (eurekalert.org)
  • 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. (eurekalert.org)
  • The degree of spindle reorganization correlates with chromosome segregation errors. (eurekalert.org)
  • 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. (eurekalert.org)
  • Chromosomes are packages of DNA, wound around proteins called histones. (creation.com)
  • The unique structure of chromosomes keeps DNA tightly wrapped around spool-like proteins, called histones. (genome.gov)
  • This cutting action produces the mRNA needed to create histone proteins that combine with DNA to form chromosomes. (innovations-report.com)
  • 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. (innovations-report.com)
  • As a class, students work through an example showing how DNA provides the 'recipe' for making human body proteins. (teachengineering.org)
  • In comparison with the Saccharomyces cerevisiae genome, chromosome 2 has a lower gene density, introns are more frequent, and proteins are markedly enriched in nonglobular domains. (jcvi.org)
  • 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). (scielo.br)
  • 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. (uniprot.org)
  • 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. (bio.net)
  • By examining the differences between modern Y chromosomes (as DNA polymorphisms) we can attempt to reconstruct a history of human paternal lineages (1). (le.ac.uk)
  • 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. (archaeology.org)
  • 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. (blogspot.com)
  • 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. (blogspot.com)
  • There are also two ring designs featuring all the human chromosomes (karyotype designs). (kickstarter.com)
  • 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. (kickstarter.com)
  • 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. (kickstarter.com)
  • How many chromosomes are shown in a normal human karyotype? (reference.com)
  • A normal human karyotype typically contains 23 pairs of chromosomes. (reference.com)
  • 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. (apologeticspress.org)
  • The complete set of chromosomes in a cell arranged in pairs in order of decreasing size is termed a Karyotype. (gradesaver.com)
  • 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. (coursehero.com)
  • 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. (sciencemag.org)
  • 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. (sciencemag.org)
  • Newswise - A study led by researchers at Indiana University is the first to find similarities between the organization of chromosomes in humans and archaea. (newswise.com)
  • 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. (genomenewsnetwork.org)
  • 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. (news-medical.net)
  • In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. (bionity.com)
  • In 2011, researchers formed a human artificial chromosome by truncating chromosome 14. (wikipedia.org)
  • 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. (icr.org)
  • According to the researchers, the predominant Y chromosomes in Native American populations today are most closely related to individuals in Central Asia. (stanford.edu)
  • 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. (sott.net)
  • 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. (sott.net)
  • Different kinds of organisms have different numbers of chromosomes. (godandscience.org)
  • 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. (le.ac.uk)
  • So, mom and dad each contribute 23 chromosomes-the haploid number-to their offspring. (apologeticspress.org)
  • They have the haploid number of chromosomes (23) because they are produced by meiosis, or reduction division. (experts123.com)
  • Chromosome rearrangements (such as inversions, fusions, and fissions) may play significant roles in the speciation between parapatric (contiguous) or partly sympatric (geographically overlapping) populations. (pnas.org)
  • chromosome 21, scientists have found that the vast majority of human populations around the globe fall into only three haplotypes. (godandscience.org)
  • 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. (le.ac.uk)
  • They are using the small DNA differences between different men's Y chromosomes to figure out how populations from around the world are related, and where and when these populations evolved. (stanford.edu)
  • By analyzing the Y chromosomes of men from different populations, Oefner, Underhill and their colleagues estimate that the African grandfather -- the most recent common ancestor to all living men -- lived sometime between 40,000 and 140,000 years ago, most probably about 89,000 years ago. (stanford.edu)
  • 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. (phys.org)
  • 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. (sott.net)
  • 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. (blogspot.com)
  • This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. (nih.gov)
  • Structural maintenance of chromosomes 4 is a predictor of survival and a novel therapeutic target in colorectal cancer. (nih.gov)
  • They protect the ends of chromosomes in a manner similar to the way the tips of shoelaces keep them from unraveling. (genome.gov)
  • Telomeres are a six-base sequence of the DNA letters TTAGGG repeated over and over again at the ends of chromosomes. (icr.org)
  • Do all living things have the same types of chromosomes? (genome.gov)
  • 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. (pbs.org)
  • 1991. Origin of human chromosome 2: an ancestral telomere-telomere fusion. (icr.org)
  • 2002. Gene Content and Function of the Ancestral Chromosome Fusion Site in Human Chromosome 2q13-2q14.1 and Paralogous Regions. (icr.org)
  • 2002. Genomic Structure and Evolution of the Ancestral Chromosome Fusion Site in 2q13-2q14.1 and Paralogous Regions on Other Human Chromosomes. (icr.org)
  • This study suggests that gene conversion between Y chromosome paralogs is conservative of the ancestral sequence via an unknown mechanism and that conservative gene conversion is not limited to genic regions of the Y chromosome. (bl.uk)
  • About 300,000 years ago falls around the time the Neanderthals are believed to have split from the ancestral human lineage. (phys.org)
  • Humans, along with other animals and plants, have linear chromosomes that are arranged in pairs within the nucleus of the cell. (genome.gov)
  • This circular chromosome is found in mitochondria, which are structures located outside the nucleus that serve as the cell's powerhouses. (genome.gov)
  • Chromosomes are present in the nucleus of every cell of the body. (sciencephoto.com)
  • 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. (springer.com)
  • In the nucleus of each cell, the DNA molecule is packaged into a thread-like struture called chromosomes. (genome.gov)
  • 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. (godandscience.org)
  • 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. (godandscience.org)
  • The banding patterns seen on stained chromosomes from humans and chimpanzees are compared in detail, showing striking similarities. (indiana.edu)
  • 3. Predictions of similarities of chromosomes, based on the assumption of evolutionary relationships, can be tested. (indiana.edu)
  • 3. demonstrate their understanding that degrees of similarities in chromosomes correspond to degrees of evolutionary relationship. (indiana.edu)
  • 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. (news-medical.net)
  • The concept of a fusion first came about in 1982 when scientists examined the similarities of human and ape chromosomes under a microscope. (icr.org)
  • They do not yet know what effects these changes may have had on the biology of humans or chimpanzees. (genomenewsnetwork.org)
  • 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 . (cns.fr)
  • Alexandre Webster et al, Mechanisms of Aneuploidy in Human Eggs, Trends in Cell Biology (2016). (phys.org)
  • 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. (phys.org)
  • 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 (www.hupo.org/research). (lu.se)
  • The frequency of sister chromatid exchanges among chromosomes correlates with chromosome length. (sciencemag.org)
  • Possible evolutionary relationships are explored, as are the chromosomes and relationships of other apes. (indiana.edu)
  • Primate Cladogram (based on chromosome banding pattern analysis of apes and old world monkeys) should be examined. (indiana.edu)
  • 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. (pbs.org)
  • While great apes all have 48 chromosomes (24 pairs), humans have only 46 (23 pairs). (pbs.org)
  • or the ancestor had 23 pairs, and apes carry a split chromosome. (pbs.org)
  • 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). (pbs.org)
  • 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. (creation.com)
  • Humans and great apes differ in chromosome numbers-humans have 46 while apes have 48. (icr.org)
  • One of the more popular arguments used for humans supposedly evolving from apes is known as the chromosome fusion. (icr.org)
  • 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? (icr.org)
  • It might comfort those wishing to blame incest on the non-human apes but it is not very scientific. (bio.net)
  • 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). (apologeticspress.org)
  • Most modern evolutionary biologists do not claim that humans evolved from chimpanzees or any of the other living apes. (apologeticspress.org)
  • 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). (apologeticspress.org)
  • HACs differ in this regard, as they are entirely separate chromosomes. (wikipedia.org)
  • 2. identify examples of inversion in homologous chromosomes. (indiana.edu)
  • 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. (pandasthumb.org)
  • sensitivity of 33258 Hoechst fluorescence allows microfluorometric analysis of sister chromatid exchanges in human metaphase chromosomes. (sciencemag.org)
  • Chimps inherit 24 chromosomes from each parent and have 24 chromosome pairs. (creation.com)
  • The first is that we share a common ancestor with chimps and that, during the course of evolution, chromosome fusion has taken place. (creation.com)
  • 1 However, humans and chimps also have regions of their chromosomes that do not share common staining patterns. (icr.org)
  • 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. (scielo.br)
  • 2004) confer high resistance to heat denaturation to the terminal regions of metaphase chromosomes which results in selective staining after T-banding (Dutrillaux, 1973). (scielo.br)
  • Overexpression of the structural maintenance of chromosome 4 protein is associated with tumor de-differentiation, advanced stage and vascular invasion of primary liver cancer. (nih.gov)
  • 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]. (freerepublic.com)
  • Telomeres are repetitive stretches of DNA located at the ends of linear chromosomes. (genome.gov)
  • Telomeres protect the ends of the chromosomes from damage and stop them from becoming attached to each other. (brighthub.com)
  • Telomeres are the regions at the end of chromosomes that contain thousands of repeats of the DNA sequence "TTAGG. (icr.org)
  • 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. (kickstarter.com)
  • Human artificial chromosome (HAC, green) with two sister centromeres (red), similar to that of the natural host chromosomes (blue). (eurekalert.org)
  • For cell replication to occur, human centromeres are not simply coded by a DNA sequence, unlike baker's yeast long used synthetic chromosome research. (eurekalert.org)
  • Centromeres help to keep chromosomes properly aligned during the complex process of cell division. (genome.gov)
  • 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. (pandasthumb.org)
  • International study of factors affecting human chromosome translocations. (cdc.gov)
  • 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. (cdc.gov)
  • Recurrent chromosome translocations in liposarcoma. (harvard.edu)
  • 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). (pandasthumb.org)
  • Their focused research led them to find a mutation on one human chromosome that explained what had happened. (pbs.org)
  • 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. (pnas.org)
  • 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). (le.ac.uk)
  • 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. (wikidoc.org)
  • If two Y chromosomes carry the same mutation, it is because they share a common paternal ancestor at some point in the past. (phys.org)
  • 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. (blogspot.com)
  • This is the first time that sequenced chromosomes from the two species have been compared. (genomenewsnetwork.org)
  • 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. (godandscience.org)
  • 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. (apologeticspress.org)
  • This accounts for the difference in diploid numbers between humans and four species of great ape. (apologeticspress.org)
  • 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. (hstalks.com)
  • Nuclear Energy Toxicology Human Chromosomes Helen Caldicott shows ample warning that our future as a species is imperiled: we have entered a danger zone. (robertschoch.net)
  • It is now necessary to create a form of energy which is non-threatening to humans, our planet, and other species of life. (robertschoch.net)
  • Molecular cytogenetics is a branch of biomedical sciences that explores chromosomes at molecular and single-cell resolutions at all stages of the cell cycle. (springer.com)
  • As a result, new opportunities have emerged for analysis of human interphase chromosomes in almost all cell types and states at unprecedented resolution. (springer.com)
  • Without it, whole chromosomes can be lost during cell division. (eurekalert.org)
  • 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. (reference.com)
  • Scientists gave this name to chromosomes because they are cell structures, or bodies, that are strongly stained by some colorful dyes used in research. (genome.gov)
  • 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. (genome.gov)
  • Chromosomes are a key part of the process that ensures DNA is accurately copied and distributed in the vast majority of cell divisions. (genome.gov)
  • 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. (diabetesjournals.org)
  • The final product of meiosis is an egg cell with 23 chromosomes. (eurekalert.org)
  • How Many Chromosomes Are Contained in a Human Male Gamete Cell? (reference.com)
  • The human male gamete, also known as a sperm cell, contains 23 chromosomes in total. (reference.com)
  • Humans have 23 pairs of chromosomes, giving each cell a total of 46. (reference.com)
  • 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. (bionity.com)
  • During cell division all the DNA of each chromosome is replicated. (brighthub.com)
  • 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 . (sciencemag.org)
  • Chromosome 3q arm gain linked to immunotherapy response in advanced cutaneous squamous cell carcinoma. (harvard.edu)
  • Also one X chromosome can be isolated from the other in hybrid cell. (hstalks.com)
  • More than 98 percent of the DNA on chimp chromosome 22 is present on human chromosome 21. (genomenewsnetwork.org)
  • For many years it was believed that recombination on the human Y chromosome was restricted to the XY-homologous pseudoautosomal regions, with over 95% of the Y chromosome believed to be non-recombining. (bl.uk)
  • Although the Y chromosome is passed intact from father to son, once in a while an alteration will occur in the chromosome's DNA. (stanford.edu)
  • Gene conversion has been shown to occur both intrachromosomally on the Y chromosome, and between the X and the Y chromosomes (Cruciani et al. (bl.uk)
  • Evolution Lesson: Comparison of Human and Chimp. (indiana.edu)
  • Particularly, he made much of recent studies of human and chimp DNA and argued that this provided irrefutable evidence of evolution. (creation.com)
  • Since humans actually have 23, it is understood that this provides evidence that evolution resulted in ape chromosomes being fused. (creation.com)
  • And the results are not good news for the story of human evolution. (freerepublic.com)
  • 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. (godandscience.org)
  • X chromosome some 300-160 million years ago, primarily during the evolution of mammals. (godandscience.org)
  • Students compare banding patterns on hominid (human and ape) chromosomes, and see striking evidence of their common ancestry. (indiana.edu)
  • Finally, new evidence for sex bias of XCI in human tissues and development of cancer is presented. (springer.com)
  • The status for each gene with regards to protein evidence is visualized in a chromosome-centric manner as part of a new version of the Human Protein Atlas (www.proteinatlas.org). (diva-portal.org)
  • Together with the absence of any evidence for a post-70ka Out-of-Africa, I'd say that it is becoming increasingly clear that while modern humans can be ultimately traced to the Middle Stone Age in Africa, their major expansion that went on to colonize the entire world originated in Asia, and included a major episode of back-migration into Africa . (blogspot.com)
  • This step-by-step construction project is the goal of the Human Genome Project-Write, a collaboration to build that life-size synthetic chromosome. (eurekalert.org)
  • 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. (freerepublic.com)
  • 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. (nanoporetech.com)
  • The ability to sequence the Y chromosome is a relatively new field of genomics research. (genome.gov)
  • 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. (newswise.com)
  • 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. (godandscience.org)
  • loci that are found in a single chromosome and tend to be inherited together. (godandscience.org)
  • Each DNA containing organism has a different number of chromosomes and they, in turn, can exhibit a wide variety of shapes. (kickstarter.com)
  • The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. (nih.gov)
  • Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. (uniprot.org)