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)
Any method used for determining the location of and relative distances between genes on a chromosome.
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 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.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
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)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Actual loss of portion of a chromosome.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The alignment of CHROMOSOMES at homologous sequences.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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 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 human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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.
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.
Mapping of the KARYOTYPE of a cell.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
A 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 specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
Aberrant chromosomes with no ends, i.e., circular.
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 phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
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.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.
The 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.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Structures within the CELL NUCLEUS of insect cells containing DNA.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
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.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
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 total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
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.
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.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A 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).
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
The possession of a third chromosome of any one type in an otherwise diploid cell.
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.
DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
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).
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.
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.
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.
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.
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.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
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.
An aberration in which an extra chromosome or a chromosomal segment is made.
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
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 species of fruit fly much used in genetics because of the large size of its chromosomes.
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.
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).
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
An individual having different alleles at one or more loci regarding a specific character.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
The process by which a DNA molecule is duplicated.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.
The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).
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 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.
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.
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 complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
Genotypic differences observed among individuals in a population.
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)
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 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.
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
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 ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
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.
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).
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
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.
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.
Genes that are located on the X CHROMOSOME.
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.
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.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
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.
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
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).
Genes that influence the PHENOTYPE only in the homozygous state.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
Established cell cultures that have the potential to propagate indefinitely.
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
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)
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The degree of replication of the chromosome set in the karyotype.
An individual in which both alleles at a given locus are identical.
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.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
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.
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.
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.
In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
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 biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
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)
The functional hereditary units of BACTERIA.
The genetic complement of a plant (PLANTS) as represented in its DNA.
DNA present in neoplastic tissue.
DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
A characteristic symptom complex.
The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.
Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.
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.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.
Deoxyribonucleic acid that makes up the genetic material of fungi.
Genes that are located on the Y CHROMOSOME.
Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.
A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.
Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
Deoxyribonucleic acid that makes up the genetic material of plants.
A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.
The mechanisms by which the SEX of an individual's GONADS are fixed.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
The functional hereditary units of INSECTS.
Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.
The prophase of the first division of MEIOSIS (in which homologous CHROMOSOME SEGREGATION occurs). It is divided into five stages: leptonema, zygonema, PACHYNEMA, diplonema, and diakinesis.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
A method for ordering genetic loci along CHROMOSOMES. The method involves fusing irradiated donor cells with host cells from another species. Following cell fusion, fragments of DNA from the irradiated cells become integrated into the chromosomes of the host cells. Molecular probing of DNA obtained from the fused cells is used to determine if two or more genetic loci are located within the same fragment of donor cell DNA.
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.
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
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.
Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

Interacting populations affecting proliferation of leukemic cells in culture. (1/44)

Peripheral blood cells from three patients with acute leukemic have been studied using a suspension culture method previously described.1 Cytogenetic studies in two of the patients permitted the identification of the proliferating cells in the cultures as being derived from a leukemic population. Cell separation studies using velocity sedimentation supported the concept that growth of the leukemic cells in culture is dependent on an interaction between two populations of leukemic cells.  (+info)

A mentally retarded child with a translocation involving chromosomes 12 and 19. (2/44)

This report concerns a de novo reciprocal translocation between the long arms of the chromosomes 12 and 19 in a mentally retarded child with bilateral radioulnar synostosis, agenesis of the corpus callosum, and several minor congenital malformations.  (+info)

Trisomy of the short arm of chromosome 10. (3/44)

A case of a fetus with multiple malformations is described. The mother showed a 46,XX,rcp(10;22) (p11;p11) karyotype. Amniocentesis at the 16th week of gestation revealed that the male fetus had a der(22) chromosome--that is, he was trisomic for a large part of 10p (10pter leads to 10p11). Clinical findings of cases with 10p, 10q, and mosaic 10 trisomies are briefly reviewed.  (+info)

Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3). (4/44)

A patient with a double partial trisomy 20 and 21 with mild mental retardation and multiple congenital anomalies is presented. Despite trisomy for a substantial portion of chromosome 21, the patient showed only minor stigmata compatible with Down syndrome.  (+info)

Genome-wide linkage of obstructive sleep apnoea and high-density lipoprotein cholesterol in a Filipino family: bivariate linkage analysis of obstructive sleep apnoea. (5/44)

 (+info)

c-src is consistently conserved in the chromosomal deletion (20q) observed in myeloid disorders. (6/44)

The proto-oncogene c-src has been mapped to two bands in human chromosomes, 1p36 and 20q13, both of which are involved in rearrangements in human tumors. In particular, deletions (loss of part of a chromosome) of the long arm of chromosome 20, del(20q), are commonly observed in hematologic malignant diseases. By using in situ chromosomal hybridization of a c-src probe to metaphase cells prepared from leukemic bone marrow cells of three patients with a del(20q), we observed specific labeling on the deleted chromosome in each patient, indicating that the c-src locus was conserved. The presence on the rearranged chromosomes of c-src, which is normally located on the most distal band of 20q, indicated that the deletions were not terminal as they appeared to be on the basis of chromosome morphology, but rather that they were interstitial. The location of c-src relative to the distal breakpoint in these deletions is unknown. By using the v-src probe in Southern blot analysis of genomic DNA from three patients with a del(20q), we found that no major genomic rearrangements or amplification of the c-src genes had occurred within the regions homologous to v-src. Our observation that c-src is consistently preserved in these rearranged chromosomes suggests that this gene may play a role in the pathogenesis of some myeloid disorders.  (+info)

Leukemia with Down's syndrome: translocation between chromosomes 1 and 19 in acute myelomonocytic leukemia following transient congenital myeloproliferative syndrome. (7/44)

A girl with Down's syndrome was born with a myeloproliferative disorder. The child had spontaneous regression of the myeloproliferation, with acute leukemia developing at a later date. Morphologic, cytochemical, immunologic, and immunoglobulin gene configuration studies all supported the diagnosis of acute nonlymphocytic leukemia. High-resolution chromosome studies revealed that the leukemic cells consistently contained a translocation between chromosomes 1 and 19: der(19)t(1;19)(q25;p13). Spontaneous regression of the transient myeloproliferative syndrome of the newborn with Down's syndrome may not always be permanent, and the transient myeloproliferative syndrome may sometimes represent an early sign of acute nonlymphocytic leukemia.  (+info)

Isolation of duplicated human c-src genes located on chromosomes 1 and 20. (8/44)

The oncogene (v-src) of Rous sarcoma virus apparently arose by transduction of the chicken gene known as c-src(chicken). We isolated DNA fragments representative of two src-related loci from recombinant DNA bacteriophage libraries of the human genome. One of these loci, c-src1(human), appeared to direct the synthesis of a 5-kilobase polyadenylated RNA that presumably encodes pp60c-src(human). Probes specific for the other locus, c-src2(human), did not hybridize to polyadenylated RNA prepared from a variety of human cell lines. Partial nucleotide sequence determinations of the loci demonstrated that c-src1(human) is highly related to chicken c-src and that c-src2(human) is slightly more divergent. The sequences imply that the final two coding exons of each human locus are identical in length to those of chicken c-src and that the location of an amber stop codon is unchanged in all three loci. c-src1(human) has been mapped to chromosome 20, and the second locus is located on chromosome 1. We conclude that c-src1(human) is the analog of c-src(chicken) and that the duplicated locus, c-src2(human), may also be expressed.  (+info)

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Orlando - A genome-wide study of blood and bone marrow samples from more than 1,300 adults with myeloid disorders has both confirmed the role of known or suspec
Bordelon, M R., Malignant characteristics of somatic cell hybrids of normal human and malignant mouse cells. Abstr. (1974). Subject Strain Bibliography 1974. 446 ...
Our Luau Hibiscus Theme Candy Bar Wrapper is a great party favor for a luau theme party. Add birthday wishes for a birthday luau or congratulations for a grad
The fusion hypothesis was confirmed in 2005 by discovery that human chromosome 2 is homologous with a fusion of two chromosomes ... For twenty years Morris has maintained that the second law of thermodynamics directly contradicts evolution. ... Is there, ... For example, the fact that humans have one fewer pair of chromosomes than the great apes offered a testable hypothesis ... "Human Chromosome 2". PBS LearningMedia. PBS; WGBH Educational Foundation. 2007. Video segment from Nova's Judgment Day: ...
Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13. 1-q13. 3. The American Journal of Human Genetics, ... TGFB1 protein is encoded by the TGF-B1 gene, which occurs on chromosome 19q13.1-13.3. This protein is responsible for a ... Camurati-Engelmann disease is caused by autosomal dominant mutations in the gene TGFB1, localized at chromosome 19q13. There ... Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13. Journal of medical genetics, 37(4 ...
... develop cardiac fibromas Mutations in the human homologue of Drosophila patched (PTCH1), a tumor suppressor gene on chromosome ... Johnson R, Rothman A, Xie J, Goodrich L, Bare J, Bonifas J, Quinn A, Myers R, Cox D, Epstein E, Scott M (1996). "Human homolog ... Recent work in molecular genetics has shown NBCCS to be caused by mutations in the PTCH (Patched) gene found on chromosome arm ... The name Gorlin syndrome refers to the American oral pathologist and human geneticist Robert J. Gorlin (1923-2006). The ...
... and so different parts of Africa contributed to the emergence of what we call modern humans today." Early humans may have ... Gradually, the Sahara-Sahel is further divided into a total of twenty sub-areas: central, northern, southern, western, eastern ... A Y Chromosome Perspective", AHG, 69, 1-20, 2005.. Hsain Ilahiane, Historical Dictionary of the Berbers (Imazighen)(2006), p. ... of a virtual skull shape of the last common human ancestor to modern humans/H. sapiens, representative of the earliest modern ...
Polska Grupa Marketingowa 2006 ISBN 83-60151-00-8. "Polska wobec Łużyc w drugiej połowie XX wieku. Wybrane problemy", ... October 2003). "Multiple origins of Ashkenazi Levites: Y chromosome evidence for both Near Eastern and European ancestries". ... European Journal of Human Genetics. v.19(9): 935-1018 2011 Sep (9): 995-1001. doi:10.1038/ejhg.2011.65. PMC 3179365. PMID ... American Journal of Human Genetics. 73 (4): 768-779. doi:10.1086/378506. PMC 1180600. PMID 13680527. Immel, UD; et al. (January ...
Hirata R, Chamberlain J, Dong R, Russell DW (July 2002). "Targeted transgene insertion into human chromosomes by adeno- ... Cancer is one such disease for which isogenic human disease models have been widely used. Human isogenic disease models have ... Isogenic human disease models are a family of cells that are selected or engineered to accurately model the genetics of a ... September 2007). "Knock-in of mutant K-ras in nontumorigenic human epithelial cells as a new model for studying K-ras mediated ...
... is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome, as they ... Gilbert F, Kauff N (2001). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 9". Genet Test. 5 (2): ... "Chromosome 9". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 9". Human Genome Project Information Archive 1990- ... The following is a partial list of genes on human chromosome 9. For a complete list, see the link in the infobox on the right. ...
Since the father retains his X chromosome from his mother, a human female has one X chromosome from her paternal grandmother ( ... where the SRY region of the Y chromosome has recombined to be located on one of the X chromosomes. As a result, the XX ... "X chromosome". Genetics Home Reference. Retrieved 2017-05-06. "X chromosome". Human Genome Project Information Archive 1990- ... He called this chromosome an accessory chromosome, and insisted (correctly) that it was a proper chromosome, and theorized ( ...
Syria: End persecution of human rights defenders and human rights activists Archived 13 October 2007 at the Wayback Machine. " ... A unit of twenty Kurdish soldiers rode into the tent of Yusuf Kethuda, the second-in-command and fought a ferocious battle with ... Nebel A, Filon D, Brinkmann B, Majumder PP, Faerman M, Oppenheim A (November 2001). "The Y Chromosome Pool of Jews as Part of ... "Essential Background: Overview of human rights issues in Syria". Human Rights Watch, 31 December 2004. Syria's Kurds Struggle ...
1938). The effect of contraception upon human fertility. Human Biology 10(3): 372-387. BEEBE, G. W., & GAMBLE, C. J. (1940). ... Missiles in the heart: a twenty-year follow-up report of World War II cases. FOLLOW-UP STUDIES OF WORLD WAR II AND KOREAN WAR ... Thyroid nodularity and chromosome aberrations among women in areas of high background radiation in China. What is desirable and ... 1938). The effect of contraception upon human fertility. Human Biology 10(3): 372-387. BEEBE, G. W., & GAMBLE, C. J. (1940). ...
"The Second X-Chromosome: A Study of Woman". Friendship Universal. 2 (1). OCLC 16965209 (1964) "The Nobel Peace Prize". New ... She had a general interest in science and was very able, very smart, but she was really concerned about human beings. The ... This effectively began Pauling's career as a public proponent of peace and human rights. Ava Helen was deeply involved in the ... Ava Helen Pauling (born Miller; December 24, 1903 - December 7, 1981) was an American human rights activist and wife of Nobel ...
Cosmid End-sequence profiling Fosmid Human artificial chromosome Yeast artificial chromosome O'Connor M, Peifer M, Bender W ( ... BACs can also be utilized to detect genes or large sequences of interest and then used to map them onto the human chromosome ... "Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the ... A bacterial artificial chromosome (BAC) is a DNA construct, based on a functional fertility plasmid (or F-plasmid), used for ...
"The human chromosome 19 linkage group FUT1 (H), FUT2 (SE), LE, LU, PEPD, C3, APOC2, D19S7 and D19S9". Ann Hum Genet. 55 (Pt 3 ... Galactoside 2-alpha-L-fucosyltransferase 2 is an enzyme that in humans is encoded by the FUT2 gene. It affects the Lewis blood ... 2003). "Human susceptibility and resistance to Norwalk virus infection". Nat. Med. 9 (5): 548-53. doi:10.1038/nm860. PMID ... Isolation of a candidate for the human Secretor blood group locus". J. Biol. Chem. 270 (9): 4632-9. doi:10.1074/jbc.270.9.4632 ...
A Y Chromosome Perspective," Archived 28 August 2013 at the Wayback Machine Annals of Human Genetics, 69, 1-20, 2005. Last ... of Y-chromosomes from Maltese men may have Phoenician origins. However, it is noted that this study is not peer reviewed and is ... and a vast collection of human form sculptures, particularly the Venus of Malta. These can be viewed at the temples themselves ... 29 (1903), p. 19 L. Cutajar, "X'Igħidu l-Għarab fuq Malta", Il-Malti (1932), pp. 97-8. G. Finotti, La Reggenza di Tunisi, Malta ...
2019). "Y-chromosome haplogroups from Hun, Avar and conquering Hungarian period nomadic people of the Carpathian Basin". ... 2016). "Whole-exome sequencing in an isolated population from the Dalmatian island of Vis". European Journal of Human Genetics ... Particularly useful information is provided by the research of two uniparental markers within our genome, the Y-chromosome (Y- ... Genetically, on the paternal Y chromosome line and studies published between 2003 and 2008, a majority (>85%) of male Croats ...
Lucotte G, David F, Berriche S (June 1996). "Haplotype VIII of the Y chromosome is the ancestral haplotype in Jews". Human ... Lucotte G, David F (October 1992). "Y-chromosome-specific haplotypes of Jews detected by probes 49f and 49a". Human Biology. 64 ... 32% of the 143 Arab Y-chromosomes studied belonged to this "I&P Arab clade", which contained only one non-Arab chromosome, that ... There are indications of genetic connections with the Hadramaut, i.e., the Lemba Y-chromosomes and Hadramaut Y-chromosomes ...
XX male syndrome/46,XX testicular disorders of sex development. *Marker chromosome ... "Human Molecular Genetics. 4 (Review Issue 1): 1757-64. PMID 8541876.. *. Los FJ, van Opstal D, van den Berg C, et al. (July ... We will explore chromosome specific cases in the chromosome specific section.. *Type of chromosome abnormality: The factor that ... Specific chromosomes: The influence of CPM on fetal growth is chromosome specific. Certain chromosomes carry imprinted genes ...
The two sex chromosomes, XX in females XY in males, are also derived half from each parent. A female inherits one X from her ... Nuclear DNA in a human consists of 22 pairs of autosomes and two sex chromosomes. The 22 pairs of autosomes are derived half ... Evolution & Human Behavior 24: 99-112. Full text. *Knight, C. 2008. Early human kinship was matrilineal. In N. J. Allen, H. ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ...
Black hair Blond Brown hair Erythrism - in non-human animals How to be a Redhead List of redheads Human hair color Defined in ... If one of these changes is present on both chromosomes then the respective individual is likely to have red hair. This type of ... Ancient human remains with red and reddish-brown hair have been discovered in various parts of Asia including the Tarim mummies ... The gene HCL2 (also called RHC or RHA) on chromosome 4 may also be related to red hair. There are 8 genetic differences ...
Amos W (2010). "Mutation biases and mutation rate variation around very short human microsatellites revealed by human- ... The telomeres at the ends of the chromosomes, thought to be involved in ageing/senescence, consist of repetitive DNA, with the ... "The American Journal of Human Genetics. 62 (6): 1408-1415. doi:10.1086/301869. PMC 1377148. PMID 9585597.. ... Weber J.L., Wong C. (1993). "Mutation of human short tandem repeats". Hum. Mol. Genet. 2 (8): 1123-1128. doi:10.1093/hmg/2.8. ...
Jonathan D. Sarna, American Judaism: A History (2004) p. xix-xx notes the "newfound popularity" of the term "denomination". ... 2004). "Reconstruction of Patrilineages and Matrilineages of Samaritans and Other Israeli Populations From Y-Chromosome and ... and that a political attempt to re-establish a Jewish state through human means alone was contrary to God's plan. Non-Zionists ... He has seen what the institutional branches of Judaism have to offer and believes that a better Judaism can be created."[20] ...
"The pattern of DNA synthesis in the chromosomes of human blood cells ." Rockefeller university press. 20.1 37-65. Print. ... 2018). Assessment of Zinc Metabolism in Humans Using Stable Zinc Isotope Techniques. Vienna: IAEA. ISBN 978-92-0-108418-7. . ... 2018). Assessment of Zinc Metabolism in Humans Using Stable Zinc Isotope Techniques. Vienna: IAEA. pp. 34-36. ISBN 978-92-0- ... 2018). Assessment of Zinc Metabolism in Humans Using Stable Zinc Isotope Techniques. Vienna: IAEA. pp. 50-58. ISBN 978-92-0- ...
Human Biology Human Biology: Introduction. Emőke J.E. Szathmáry. Pages 711-726. Growth and Development. Lawrence M. Schell, Mia ... Y Chromosomes. Tatiana M. Karafet, Stephen L. Zegura, & Michael F. Hammer. Pages 831-839. Ancient DNA. Anne C. Stone. Pages 840 ... Human Biology of the Arctic. Emőke J.E. Szathmary. Pages 64-71. Prehistory: Summary. Don E. Dumond. Pages 72-79. Western Arctic ... Human Biology. Jerome S. Cybulski. Pages 52-59. Cultural Antecedents. Roy L. Carlson. Pages 60-69. History of Research History ...
FGF15 is the mouse ortholog of human FGF19 (there is no human FGF15) and, where their functions are shared, they are often ... In the case of FGF, four receptor subtypes can be activated by more than twenty different FGF ligands. Thus the functions of ... In humans, 22 members of the FGF family have been identified, all of which are structurally related signaling molecules:[2][3][ ... Human FGF2 occurs in low molecular weight (LMW) and high molecular weight (HMW) isoforms.[23] LMW FGF2 is primarily cytoplasmic ...
... is the sub-clade of human Y-chromosome haplogroup R1b that is defined by the SNP marker M269. According to ... November 2000). "Y chromosome sequence variation and the history of human populations". Nature Genetics. 26 (3): 358-61. doi: ... March 2008). "Differential Y-chromosome Anatolian influences on the Greek and Cretan Neolithic". Annals of Human Genetics. 72 ( ... January 2004). "Excavating Y-chromosome haplotype strata in Anatolia" (PDF). Human Genetics. 114 (2): 127-48. doi:10.1007/ ...
Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. ... "Usually girls have XX chromosomes and boys have XY, but this killer is XYY, which means too much testosterone." Among other ... 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 ...
They predicted the ratio would vary from 1:1 due to recessive mutations on the X chromosome, which would be expressed only in ... In this period, he also became involved with eugenics and human genetics. He carried out a study of twins separated at birth ... From his first semester, he was interested in biology; he became an early convert of the Mendelian-chromosome theory of ... Eugenics might yet perfect the human race, but only in a society consciously organized for the common good. Carlson, Genes, ...
It is more complicated to infer human ancestry via autosomal chromosomes. Although an autosomal chromosome contains genes that ... of the human lineage in order of increasing age, including hominin (human-chimpanzee), hominine (human-gorilla), hominid (human ... Likewise, Y chromosome is present as a single sex chromosome in the male individual and is passed on to male descendants ... hominoid (human-gibbon), and so on in 40 stages in total, down to the last universal ancestor (human-bacteria). It is also ...
Wiegant J, Galjart NJ, Raap AK, d'Azzo A (1991). "The gene encoding human protective protein (PPGB) is on chromosome 20". ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... 1991). "Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function". J. Biol. Chem ... assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20". Am ...
"A back migration from Asia to sub-Saharan Africa is supported by high-resolution analysis of human Y-chromosome haplotypes". ... Devens, M. S. 'The Liturgy of the Seventh Sabbath: A Betä Israel (Falasha) Text', p. xx/4.4 (Introduction), Wiesbaden, 1995. ... "A new topology of the human Y chromosome haplogroup E1b1 (E-P2) revealed through the use of newly characterized binary ... "American Journal of Human Genetics. 70 (5): 1197-214. doi:10.1086/340257. PMC 447595. PMID 11910562.. ...
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 - - ... Life on the Edge of the Marshes: A twenty-year-long ethnographic study conducted by Edward Ochsenschlager. As well as ... Human rights *in pre-Saddam Iraq. *in Saddam Hussein's Iraq. *in post-invasion Iraq *in ISIL-controlled territory ... Only 1,600 of them were estimated to still be living on traditional dibins by 2003.[20] The western Hammar Marshes and the ...
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 ... 19 (9): 2234-44. doi:10.1210/me.2005-0081. PMID 15890672.. *^ Buijs A, Sherr S, van Baal S, et al. (April 1995). "Translocation ...
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 ...
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 ... and as of 2009 twenty states in the US have passed similar legislation.[22] ... 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 ...
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): ...
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 ... Others disagree.[61] At about twenty-six weeks of pregnancy, certain connections are made in the thalamus of the growing fetus ... 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. ...
"Is the human race evolving or devolving?". Scientific American. From a biological perspective, there is no such thing as ... 20] Constructive neutral evolution[edit]. Recently work in evolution theory has proposed that by relaxing selection pressure, ...
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 ...
... 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 ...
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, ...
"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 DNA sequence of human chromosome 22". Nature 402 (402). ISSN 0028-0836, págs. 489-495.. ... Human Genome Project (2003). "International Consortium Completes Human Genome Project". Human Genome Project Information (en ... U. S. Human Genome Project (2008). Office of Science - U. S. Dpt. of Energy, ed. "Major Events in the U.S. Human Genome Project ... National Human Genome Research Istitute - NHGRI (NIH) (2004). "Scientists Compare Rat Genome With Human, Mouse" (en inglés). ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene.[5] Presenilin-1 is one of the four ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ... A study of broad range gene expression was conducted on human malignant melanoma. Researchers classified the malignant melanoma ...
Genes on human chromosome 15. *DNA repair. Hidden categories: *CS1 maint: Multiple names: authors list ... condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... It is of uncertain origin[1]:160 and widely cultivated as a crop for human consumption. It is also used as a cover crop, the ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... might frown on human consumption. But in Liguria, a maritime region near northern Italy, fava beans are loved raw, and consumed ...
In recent investigations, it has also been made clear that both varieties have the same chromosome number (n=15) and can be ... "Food and Drug Administration, US Department of Health and Human Services. October 2014. Retrieved 25 October 2014.. ... but the compounds found in green tea have not been conclusively demonstrated to have any effect on human diseases.[79][80] One ... ISBN 978-0-19-507993-7.. *^ Keekok Lee (2008). Warp and Weft, Chinese Language and Culture. Eloquent Books. p. 97. ISBN 978-1- ...
"Mapping of a human brain voltage-gated calcium channel to human chromosome 12p13-pter". Genomics. 14 (4): 1092-4. doi:10.1016/ ... Calcium channel, voltage-dependent, L type, alpha 1C subunit (also known as Cav1.2) is a protein that in humans is encoded by ... Soldatov NM (Jul 1994). "Genomic structure of human L-type Ca2+ channel". Genomics. 22 (1): 77-87. doi:10.1006/geno.1994.1347. ... Powers PA, Gregg RG, Lalley PA, Liao M, Hogan K (Jul 1991). "Assignment of the human gene for the alpha 1 subunit of the ...
Lin HH, Stacey M, Hamann J, Gordon S, McKnight AJ (2000). „Human EMR2, a novel EGF-TM7 molecule on chromosome 19p13.1, is ... Stacey M, Lin HH, Hilyard KL, Gordon S, McKnight AJ (2001). „Human epidermal growth factor (EGF) module-containing mucin-like ... Gene structure and transcript analysis of the human and mouse EGF-TM7 molecule, FIRE". DNA Seq. 17 (1): 8-14. PMID 16753812. ... hormone receptor 3 is a new member of the EGF-TM7 family that recognizes a ligand on human macrophages and activated ...
Circular chromosomes, similar translation and transcription to Eukarya. Circular chromosomes, unique translation and ... making up about one in ten of all the prokaryotes in the human gut.[197] In termites and in humans, these methanogens may in ... after the cell's chromosome is replicated and the two daughter chromosomes separate, the cell divides.[154] In the genus ... Multiple, linear chromosomes, similar translation and transcription to Archaea. Internal cell structure. No membrane-bound ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ... "Chromosome 16". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 16". Human Genome Project Information Archive ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 16". Genet Test. 3 (2): 243-54. ...
A new gene located on chromosome 2 was named timeless (tim) and was successfully cloned and sequenced. They found strong ... in humans, which is linked to an hPer2 polymorphism that removes a serine normally phosphorylated by Casein kinase 1.[17] Other ... by determining the sequence of the gene on the X chromosome, they found that the arrhythmic mutation produced a functionless ... "The Drosophila Clock Gene double-time Encodes a Protein Closely Related to Human Casein Kinase Iε" (PDF). Cell. 94 (1): 97-107 ...
The yeast artificial chromosome contiguous unit starts with pericentromeric and ends with subtelomeric loci of 21q. The ... This set of overlapping clones will promote our knowledge of the structure of this chromosome and the function of its genes. ... A continuous array of overlapping clones covering the entire human chromosome 21q was constructed from human yeast artificial ... chromosome libraries using sequence-tagged sites as landmarks specifically detected by polymerase chain reaction. ...
Evidence of prehistoric demographic expansions has been detected in the mitochondrial diversity of most human populations and ... MW 1999Population growth of human Y chromosomes: A study of Y chromosome microsatellites.Mol Biol Evol1617911798PubMedGoogle ... 2000Y chromosome sequence variation and the history of human populations.Nat Genet26358361CrossRefPubMedGoogle Scholar ... The human Y chromosome, disease and selection.Trends Genet16356362CrossRefPubMedGoogle Scholar ...
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 ...
Since the father retains his X chromosome from his mother, a human female has one X chromosome from her paternal grandmother ( ... where the SRY region of the Y chromosome has recombined to be located on one of the X chromosomes. As a result, the XX ... "X chromosome". Genetics Home Reference. Retrieved 2017-05-06. "X chromosome". Human Genome Project Information Archive 1990- ... He called this chromosome an accessory chromosome, and insisted (correctly) that it was a proper chromosome, and theorized ( ...
Three region-specific libraries for the entire human chromosome 18 were constructed using microdissection and MboI linker- ... Human Chromosome Blot Hybridization Insert Size Density Marker Southern Blot Hybridization This is a preview of subscription ... Three region-specific libraries for the entire human chromosome 18 were constructed using microdissection and MboI linker- ... Construction and characterization of three region-specific microdissection libraries for human chromosome 18. ...
doi: 10.1186/1471-2148-13-216 PMCID: PMC3850526 PMID: 24079706 Y Chromosome analysis of prehistoric human populations in the ... To help understand the human evolutionary history of this region, we performed Y chromosome analyses on ancient human remains ... Y Chromosome analysis of prehistoric human populations in the West Liao River Valley, Northeast China. 중국 동북부 랴오강 계곡의 선사 시대 인구에 ... The Y chromosome, with its uniparental inheritance and low mutation rate [6], is used widely for tracing the history of human ...
Chromosome 16 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ... "Chromosome 16". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 16". Human Genome Project Information Archive ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 16". Genet Test. 3 (2): 243-54. ...
14.1 Human Chromosomes - Understand Key Concepts/Think Critically - Page 412 6 including work step by step written by community ... Chapter 14, Human Heredity - Assessment - 14.1 Human Chromosomes - Understand Key Concepts/Think Critically - Page 412. 6 ... Chapter 14, Human Heredity - Assessment - 14.1 Human Chromosomes - Understand Key Concepts/Think Critically - Page 412: 6. ... Forensics Lab - Pre-Lab - Using DNA to Identify Human Remains * Assessment - 14.1 Human Chromosomes - Understand Key Concepts/ ...
Similar additional chromosome abnormalities were observed in the terminal stage of the disease in 5 of 9 patients with ... The study of chromosome banding pattern of leukaemic cells in 15 patients with CML revealed t(9;22) in all cases. ... Chromosome Aberrations*. Chromosome Deletion. Chromosomes, Human, 16-18. Chromosomes, Human, 19-20. Chromosomes, Human, 21-22 ... Chromosomes, Human, 6-12 and X. Female. Humans. Leukemia, Myeloid / genetics*. Male. Middle Aged. Translocation, Genetic. ...
A patient with triplication of all of chromosome arm 20p is presented to illustrate the relatively modest degree of ... Chromosome Banding * Chromosomes, Human, 19-20* * Chromosomes, Human, 6-12 and X ... Triplication of chromosome arm 20p due to inherited translocation and secondary nondisjunction Am J Med Genet. 1979;4(1):47-50. ... A patient with triplication of all of chromosome arm 20p is presented to illustrate the relatively modest degree of ...
A similar pattern is observed in ancient mtDNA samples of proto-Bulgarian human remains, which belong exclusively to Western ... The spatial distribution of mtDNA haplogroups C, D and Z and Y-chromosome haplogroups C, N and Q contrasts their high frequency ... we have analyzed the distribution of Y-chromosome haplogroups C, N and Q and mtDNA haplogroups C, D and Z across Eurasia. The ... and Y-chromosome gene pools predominantly consist of Western Eurasian haplogroups. In contrast, the Eastern Eurasian lineages ...
Chromosome 9 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome, as they ... Gilbert F, Kauff N (2001). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 9". Genet Test. 5 (2): ... "Chromosome 9". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 9". Human Genome Project Information Archive 1990- ... The following is a partial list of genes on human chromosome 9. For a complete list, see the link in the infobox on the right. ...
Chromosome conformation capture (3C) technologies can be used to investigate 3D genomic structures. However, high background ... High-resolution analysis of aberrant regions in autosomal chromosomes in human leukemia THP-1 cell line. BMC Res. Notes 2, 153 ... a-d, The x and y axes show the regions of each chromosome at a resolution of 1 Mb, and the z axis reveals normalized contact ... Schmitt, A. D., Hu, M. & Ren, B. Genome-wide mapping and analysis of chromosome architecture. Nat. Rev. Mol. Cell Biol. 17, 743 ...
... female human ES cells always have the same X chromosome inactivated while mouse ES cells have two active X chromosomes until ... However, the human ES cells derived at 5% oxygen did not exhibit the strong activation of the XIST gene, and both X chromosomes ... If both X chromosomes are left active in an adult cell, the cell will have twice the expression of the X chromosome genes, ... "Also, human ES cells are the only tool we have to study the beginning of human development," says Maisam Mitalipova, Director ...
Chromosome 8 (human). File:Human male karyotpe high resolution - Chromosome 8 cropped.png. Human chromosome 8 pair after G- ... Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 ... See also: Category:Genes on human chromosome 8.. The following are some of the gene count estimates of human chromosome 8. ... File:Human male karyotpe high resolution - Chromosome 8.png. Chromosome 8 pair. in human male karyogram. ...
Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 19". Genet Test. 1 (2): 145-9. ... G-bands of human chromosome 19 in resolution 850 bphs[20] Chr. Arm[21] Band[22] ISCN. start[23] ISCN. stop[23] Basepair. start ... human). File:Human male karyotpe high resolution - Chromosome 19 cropped.png. Human chromosome 19 pair after G-banding.. One is ... Wikimedia Commons has media related to Human chromosome 19.. *. National Institutes of Health. "Chromosome 19". Genetics Home ...
acrocentric chromosome 17 October 2005 Definition: Chromosome whose centromere lies very near one end. See also metacentric ... metacentric chromosome 17 October 2005 Definition: Chromosome having its centromere in the middle. See also acrocentric ... Chromosomes. * diepoxybutane-induced chromosomal breakage 31 May 2006 Pathology Fanconi disease (Fanconi syndrome) See also ... 1996 - 2018 Humpath.com - Human pathology Site Map , Log in , Contact , RSS 2.0 ...
G-bands of human chromosome 20 in resolution 850 bphs[19] Chr. Arm[20] Band[21] ISCN. start[22] ISCN. stop[22] Basepair. start ... Wikimedia Commons has media related to Human chromosome 20.. *. National Institutes of Health. "Chromosome 20". Genetics Home ... "Human chromosome 20: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.. ... G-banding patterns of human chromosome 20 in three different resolutions (400,[15] 550[16] and 850[4]). Band length in this ...
Natural Selection Reduced Diversity on Human Y Chromosomes Melissa A. Wilson Sayres et al. The human Y chromosome exhibits ... Human genetic variation: the first 50 dimensions. Human genetic variation: 124+ clusters with the Galore approach. How Y-STR ... and may have contributed to lowering human Y chromosome diversity.. Admixture of course has its own effect, but can we ... and may have contributed to lowering human Y chromosome diversity. Because the functional significance of the ampliconic ...
Eutherian female mammals compensate the dosage of X‐linked gene expression between XY male and XX female, via transcriptional ... chromosome dynamics in human pre‐implantation embryos remains elusive, largely due to the restricted availability of human ... Dosage compensation in human pre‐implantation embryos: X‐chromosome inactivation or dampening?. Roni Saiba, Maniteja Arava, ... the human counterparts also have many genes inactivated in one of the X‐chromosomes. In mouse, there are two forms of X‐ ...
... human) Chromosome 22 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. ... Chromosome 22 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... Chromosome 22 was the first human chromosome to be fully sequenced. Identifying genes on each chromosome is an active area of ... Gilbert F (1998). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 22". Genet Test 2 (1): 89-97. ...
Therefore, it is unlikely that southeastern Asia is the place of the early settlement of modern humans carrying O2b chromosomes ... In this study, 25 Y-chromosome single nucleotide polymorphism markers and 17 Y-chromosome short tandem repeat (Y-STR) loci were ... In the present study, 25 Y-chromosome single-nucleotide polymorphism (Y-SNP) markers and 17 Y-chromosome short tandem repeat (Y ... Haplotypes for 25 Y-chromosome single-nucleotide polymorphisms (Y-SNPs) and 17 Y-chromosome short tandem repeat (Y-STR) loci in ...
Human chromosome 14q32.2 carries a cluster of protein-coding paternally expressed genes (PEGs) such as DLK1 and RTL1 and non- ... Second, the IG-DMR and the MEG3/Gtl2-DMR show a hierarchical interaction on the maternally derived chromosome in both the human ... Human chromosome 14q32.2 harbors the germline-derived primary DLK1-MEG3 intergenic differentially methylated region (IG-DMR) ... Human chromosome 14q32.2 harbors the germline-derived primary DLK1-MEG3 intergenic differentially methylated region (IG-DMR) ...
Human chromosome 20. Human chromosome 20: entries, gene names and cross-references to MIM ... RGS19_HUMAN. ,p>This subsection of the Entry information section provides one or more accession number(s). These are stable ... sp,P49795,RGS19_HUMAN Regulator of G-protein signaling 19 OS=Homo sapiens OX=9606 GN=RGS19 PE=1 SV=1 ... Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. ...
Chromosome 1 is one of the 23 pairs of chromosomes in humans. ... Chromosome 10 is one of the 23 pairs of chromosomes in humans ... genome.gov , 1999 Release: First Human Chromosome Sequenced (1094 words). Chromosome 22 is the first of 23 human chromosome ... Encyclopedia , Chromosome 22 (human). Chromosome 22 is one of the 23 pairs of chromosomes in humans. People normally have two ... Chromosome 11 is one of the 23 pairs of chromosomes in humans. ... Chromosome 12 is one of the 23 pairs of chromosomes in ...
Variants typed in the human IFIT1 and CYP17A1 genes (a) the genomic structure of the IFIT1 and CYP17A1 genes showing the ... Common Variation in the CYP17A1 and IFIT1 Genes on Chromosome 10 Does Not Contribute to the Risk of Endometriosis. Zhen Zhen ... A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215. [PMC free ... The CYP17A1 gene lies at 104.5 Mbp, on the shoulder of our linkage peak on chromosome 10 and encodes the cytochrome P450c17α ...
Sample 21: Mind Map - Human Genome Epidemiology. Biological educational mindmap sample: Human genome epidemiology. ... including part of bacterial chromosome.. This example of diagram for studying of prokaryotic molecular genetics is created with ... F-plasmid De-integration Including Part of Bacterial Chromosome. Microbiological diagram sample: F-plasmid de-integration ... Sample 19: Microbiology - Bacterial Conjugation with F-plasmid. Microbiological diagram sample: Bacterial conjugation with F- ...
Fossil fern showcases ancient chromosomes. Fossil nuclei and chromosomes seen in a 180-million-year-old fern reveals that the ... Human noses know more than 1 trillion odors. Sense of smell displays a vast reach in study of peoples ability to distinguish ... The amazing human schnoz, a real-world tractor beam, environmentally friendly flatulence and the next best thing to earthquake ...
Fossil fern showcases ancient chromosomes. Fossil nuclei and chromosomes seen in a 180-million-year-old fern reveals that the ... Human noses know more than 1 trillion odors. Sense of smell displays a vast reach in study of peoples ability to distinguish ... 17 SN: Magnetic knots, the realities of play, cloned monkeys debut, redating humans African exit, lessons in DNA packing, ... The amazing human schnoz, a real-world tractor beam, environmentally friendly flatulence and the next best thing to earthquake ...
2009 Feb;19(2):178-90. doi: 10.1101/gr.086041.108. Epub 2008 Nov 24. Comparative Study; Research Support, N.I.H., Extramural; ... Syntenic blocks between human and gibbon chromosomes are reported diagrammatically on the left side of NLE chromosomes, ... Bottom panel) Representative comparative FISH signal pattern on human (HSA) and gibbon (NLE) chromosomes using a human fosmid ( ... indicating sequence identity with the human chromosome 16 segment. The figure shows a class I breakpoint where the human ...
  • Neither migration nor admixture are mentioned in the text, and, in my opinion, these processes have shaped modern human Y chromosomal variation. (blogspot.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 this example, a gibbon BAC clone spanning the breakpoint shows a single signal on gibbon chromosome 2 (NLE 2), but FISH mapped to human shows two signals on chromosomes 5 and 16, identifying an interchromosomal rearrangement (as represented by the chromosomal ideogram). (nih.gov)
  • The p15 gene which encodes a cyclin-dependent kinase inhibitor, is located in the 9p21 chromosomal region that is frequently deleted in human bladder transitional cell carcinomas (TCCs). (ebscohost.com)
  • The structures of the eukaryotic and prokaryotic chromosome are described, as are the processes involved in chromosomal replication. (slideshare.net)
  • In most species, we identify striking megabase-wide regions, where nucleotide diversity is less than 20% of the chromosomal average. (pnas.org)
  • 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)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 10. (medlineplus.gov)
  • Kusuda J, Hidari N, Hirai M, Hashimoto K , Sequence analysis of the cDNA for the human casein kinase I delta (CSNK1D) gene and its chromosomal localization. (coriell.org)
  • Chromosome-mediated microtubule formation, including RAN-mediated spindle formation and chromosomal passenger complex-mediated spindle elongation, controls the growth of microtubules from chromatin, while acentriolar MTOC-mediated microtubule formation contributes to spindle formation. (deepdyve.com)
  • The Philadelphia chromosome (Ph) is a shortened chromosome 22 generated by a balanced t(9;22) chromosomal translocation. (bloodjournal.org)
  • Definition: Chromosome having its centromere in the middle. (humpath.com)
  • Definition: Chromosome whose centromere lies very near one end. (humpath.com)
  • Each chromosome has a constriction point called the centromere , which divides the chromosome into two sections, or "arms. (conservapedia.com)
  • The location of the centromere on each chromosome gives the chromosome its characteristic shape, and can be used to help describe the location of specific genes. (conservapedia.com)
  • [4] There is also a telomere region within the human chromosome two, as well as a non-functional second centromere. (conservapedia.com)
  • In the latest analysis, researchers searched the chromosome's DNA sequence for the relics of the center (centromere) of the ape chromosome that was inactivated upon fusion with the other ape chromosome. (innovations-report.com)
  • The human βIII spectrin gene ( SPTBN2 ) maps to chromosome 11q13 and the mouse gene ( Spnb3 ) maps to a syntenic region close to the centromere on chromosome 19. (pnas.org)
  • A centromere is a region of DNA typically found near the middle of a chromosome where two identical sister chromatids come closest in contact. (absoluteastronomy.com)
  • FISH probes revealed that in all cases, save the Hulk, the γ-chromosome was associated with the centromere of the X-chromosome. (ubc.ca)
  • Until one centromere becomes inactivated the new chromosome will have two active centromeres (dicentric). (thefullwiki.org)
  • Chromosome abnormalities in CML. (biomedsearch.com)
  • Similar additional chromosome abnormalities were observed in the terminal stage of the disease in 5 of 9 patients with aneuploid cell lines. (biomedsearch.com)
  • Twenty primary tumors were studied by comparative genomic hybridization (CGH), and abnormalities were found in 19. (nih.gov)
  • Additionally, we review the mechanistic aspects of meiotic spindle formation and examine the factors implicated in the development of spindle abnormalities and erroneous chromosome segregation. (deepdyve.com)
  • In later sections, we describe the roles of spindle assembly checkpoint (SAC) and cohesin in regulating the fidelity of segregation and show that abnormalities in quality control mechanisms of chromosome segregation can result in aneuploidy. (deepdyve.com)
  • A rearrangement of chromosome 8 causes recombinant 8 syndrome, a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. (medlineplus.gov)
  • A continuous array of overlapping clones covering the entire human chromosome 21q was constructed from human yeast artificial chromosome libraries using sequence-tagged sites as landmarks specifically detected by polymerase chain reaction. (nature.com)
  • Luke Hutchison noticed that a number of possible ancestors on the X chromosome inheritance line at a given ancestral generation follows the Fibonacci sequence. (wikipedia.org)
  • More than 30 unique sequence microclones from each library were analyzed by Southern blot hybridization to demonstrate that they are human specific and were derived from chromosome 18. (springer.com)
  • 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)
  • B ) Sequence architecture at human-NLE gibbon synteny breaks. (nih.gov)
  • Bottom panel) Three-way ClustalW alignment between human and NLE gibbon sequences at the breakpoint with 1 (blue) denoting a sequence identity with the human chromosome 5 segment and 2 (orange) indicating sequence identity with the human chromosome 16 segment. (nih.gov)
  • The BRCA2 gene exhibits allelic differences in its sequence among members of the human population. (aacrjournals.org)
  • To accurately annotate sequence variations of the BRCA2 gene in an unambiguous and technically facile model, we performed targeted disruption of BRCA2 exon 11 by homologous recombination, yielding the first available syngeneic human cancer BRCA2 knockout cell line. (aacrjournals.org)
  • Considering that our analysis focused on approximately 8.97 Mbp of sequence from the Y chromosome X-degenerated region, this rate is equivalent to 0.53 × 10−9 bp−1 year−1. (blogspot.com)
  • When I was fetching Human Genomics DNA sequence using Coordinates, I found that the nucleotide se. (biostars.org)
  • The Human Genome Project (HGP) produced a reference sequence of the euchromatic human genome, which is used worldwide in biomedical sciences . (thefullwiki.org)
  • The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved. (thefullwiki.org)
  • In a study published in the April 7 issue of the journal Nature, a multi-institution team, led by Washington University School of Medicine in St Louis, described its analysis of the high quality, reference sequence of chromosomes 2 and 4. (innovations-report.com)
  • As part of their examination of chromosome 4, the researchers found what are believed to be the largest "gene deserts" yet discovered in the human genome sequence. (innovations-report.com)
  • Of 55 unique sequence clones, 53 map to chromosome 7. (atcc.org)
  • Of 19 unique sequence clones, 18 map to chromosome 7. (atcc.org)
  • The 10 000 rad SHGC G3 radiation hybrid (RH) panel was used to map the location of the SLC23A2 and SLC23A1 genes with regards to sequence tagged sites (STS) mapped to the human genome. (bmj.com)
  • or whether the nucleic acid sequence of interest is localized in the chromosomes, nucleus, or cytoplasm of a cell. (google.com)
  • Schmidt C.W. Base sequence studies of 300 nucleotide renaturated repeated human DNA clones. (web.ru)
  • Genetic disorders that are due to mutations in genes on the X chromosome are described as X linked. (wikipedia.org)
  • If X chromosome has a genetic disease gene, it always causes illness in male patients, since men have only one X chromosome and therefore only one copy of each gene. (wikipedia.org)
  • Females, instead, may stay healthy and only be carrier of genetic illness, since they have another X chromosome and possibility to have healthy gene copy. (wikipedia.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)
  • Identifying genes on each chromosome is an active area of genetic research. (bionity.com)
  • A small extra chromosome is made up of genetic material from chromosome 22 that has been abnormally duplicated (copied). (bionity.com)
  • However, like many debates on the genetic history of human populations, the origin of the Korean population remains controversial. (springer.com)
  • Consistent with this, deregulated Aurora kinase activity in cancer cells leads to defects in centrosome function, aberrant spindle assembly, misalignment of chromosomes, abnormal cytokinesis, and genetic instability ( 6 , 11 ). (aacrjournals.org)
  • The enormous scope of natural human genetic variation is now becoming defined. (aacrjournals.org)
  • Please see Pattern and process in human genetic diversity: from genomes to populations for information about my current Fellowship project. (le.ac.uk)
  • We suggest that independent and very strong selective sweeps are the only plausible explanation for these observations, and we hypothesize that the targets of these sweeps are multicopy testis-expressed genes in a genetic conflict with the Y chromosome for transmission to the next generation. (pnas.org)
  • A complex rearrangement (translocation) of genetic material between chromosomes 10 and 11 is associated with several types of blood cancer known as leukemias. (medlineplus.gov)
  • Plummer SJ, Simmons JA, Adams L, Casey G , Mapping of 228 ESTs and 26 genes into an integrated physical and genetic map of human chromosome 17. (coriell.org)
  • The knowledge of genetic variants shaping human placental transcriptome is limited and they are not cataloged in the Genotype-Tissue Expression project. (frontiersin.org)
  • In summary, the study emphasizes the role of genetic variation in driving the transcriptome profile of the human placenta and the importance to explore further its functional implications. (frontiersin.org)
  • In recent years, evolutionary biologists , geneticists and palaeoanthropologists have been reassessing the issues, many citing genetic and other evidence that early human kinship may have been matrilineal after all. (wikipedia.org)
  • in 1902, the Boveri-Sutton Chromosome Theory unified the genetic laws of Mendelian inheritance with the physical structures of chromosomes observed in cells? (thefullwiki.org)
  • Pallister-Killian syndrome is a rare congenital genetic disorder that cannot be detected through prenatal blood tests because it occurs only in the chromosomes of skin cells ? (thefullwiki.org)
  • microchromosomes are very tiny gene -rich chromosomes which are a typical genetic component in birds , and some groups of non-mammalian animals? (thefullwiki.org)
  • Translocations of genetic material between chromosome 8 and other chromosomes can cause 8p11 myeloproliferative syndrome. (medlineplus.gov)
  • A type of blood cancer known as core binding factor acute myeloid leukemia (CBF-AML) is associated with a rearrangement (translocation) of genetic material between chromosomes 8 and 21. (medlineplus.gov)
  • The signs and symptoms of recombinant 8 syndrome are related to the loss of genetic material on the short arm of chromosome 8 and the presence of extra genetic material on the long arm of chromosome 8. (medlineplus.gov)
  • Trichorhinophalangeal syndrome type II (TRPS II) is caused by a deletion of genetic material on the long (q) arm of chromosome 8. (medlineplus.gov)
  • The X chromosome in humans spans more than 153 million base pairs (the building material of DNA). (wikipedia.org)
  • Chromosome 16 spans about 90 million base pairs (the building material of DNA) and represents just under 3% of the total DNA in cells . (wikipedia.org)
  • Chromosome 9 spans about 138 million base pairs of nucleic acids (the building blocks of DNA) and represents between 4.0 and 4.5% of the total DNA in cells. (wikipedia.org)
  • 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)
  • Chromosome 19 spans more than 58.6 million base pairs , the building material of DNA . (wikidoc.org)
  • Chromosome 20 spans around 63 million base pairs (the building material of DNA ) and represents between 2 and 2.5 percent of the total DNA in cells . (wikipedia.org)
  • 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)
  • Chromosome 10 spans more than 133 million DNA building blocks (base pairs) and represents between 4 and 4.5 percent of the total DNA in cells. (medlineplus.gov)
  • The gene spans 36 kb on the short arm of chromosome 20. (atlasgeneticsoncology.org)
  • The objective of this study was to identify and quantitate the expression of putative cancer genes located at this chromosome locus in normal urothelium, superficial, and muscle invasive bladder tumors. (ebscohost.com)
  • This finding suggested that either one copy of the paternal chromosome 4 bore a deletion including the LRBA locus, or the patient inherited two copies of the mutant maternal LRBA allele. (frontiersin.org)
  • The translocation results in a p210 BCR-ABL fusion protein when the protooncogene ABL moves from chromosome 9 to the major breakpoint cluster region (M-bcr) within the BCR gene on chromosome 22 or in a shorter p190 BCR-ABL fusion protein when it moves to the minor breakpoint cluster region (m-bcr) within the same BCR locus. (bloodjournal.org)
  • The yeast artificial chromosome contiguous unit starts with pericentromeric and ends with subtelomeric loci of 21q. (nature.com)
  • The results of our SNP analyses can be reconciled with the expansion of male effective population sizes inferred from STR loci, and with mitochondrial evidence, by admitting that humans were essentially polygynous during much of their history. (springer.com)
  • We also used 17 Y short tandem repeat loci in the non-recombining portion of the Y chromosome. (daum.net)
  • In this study, 25 Y-chromosome single nucleotide polymorphism markers and 17 Y-chromosome short tandem repeat (Y-STR) loci were genotyped in 1,108 males from several populations in East Asia. (springer.com)
  • In addition, fluorescence in situ hybridization mapping led to localizing the RB18A gene on chromosome 17q12-q21.1, loci associated with human cancers. (aacrjournals.org)
  • Loci at chromosomes 13, 19 and 20 influence age at natural menopause. (sanger.ac.uk)
  • Bertranpetit, J 2000 Genome, diversity, and origins: The Y chromosome as a storyteller. (springer.com)
  • From 1994 to 2000, 154 adults with Philadelphia chromosome-positive (Ph + ) and/or BCR-ABL + acute lymphoblastic leukemia (ALL) were treated according to a prospective trial (median follow-up, 4.5 years) with the aim to study the prognostic value of early response to therapy and the role of stem cell transplantation (SCT) in first complete remission (CR). (bloodjournal.org)
  • 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)
  • The deletion occurs near the middle of the chromosome at a location designated as q11.2. (bionity.com)
  • 22q13 deletion syndrome (Phelan-McDermid syndrome): The deletion of the distal tip of the chromosome 22 is related to moderate to severe developmental delay and mental retardation. (bionity.com)
  • 10q26 deletion syndrome is a condition that results from the loss (deletion) of a small piece of chromosome 10 in each cell. (medlineplus.gov)
  • The deletion occurs on the long (q) arm of the chromosome at a position designated 10q26. (medlineplus.gov)
  • People with 10q26 deletion syndrome are missing between 3.5 million and 17 million DNA building blocks (base pairs), also written as 3.5 and 17 megabases (Mb), at position q26 on chromosome 10. (medlineplus.gov)
  • Lin S, Zhou Y, Fang Q, Wu J, Zhang Z, Ji Y, Luo Y. Chromosome 10q26 deletion syndrome: Two new cases and a review of the literature. (medlineplus.gov)
  • Researchers are working to determine which genes are involved in the deletion and duplication on chromosome 8. (medlineplus.gov)
  • The chromosome constitution of an individual, karyotype, can be analyzed following tissue culture of an appropriate sample. (conservapedia.com)
  • Pregnancy in a patient with 47,XX,i(Xq) karyotype. (bmj.com)
  • A phenotypically normal woman with a 47,XX,i(Xq) karyotype is reported. (bmj.com)
  • Only a few cases have been reported of patients who have a 47,XXX karyotype with the third X chromosome being structurally abnormal. (bmj.com)
  • This report describes a patient with a 47,XX,i(Xq) (qter leads to cen leads to qter) karyotype. (bmj.com)
  • Two other genes, CH1 and RGS5, which are situated in the same region of chromosome lq, demonstrated disparate patterns of expression. (ebscohost.com)
  • A small percentage of retinoblastoma cases are caused by deletions in the region of chromosome 13 (13q14) containing the RB1 gene. (bionity.com)
  • Evidence of prehistoric demographic expansions has been detected in the mitochondrial diversity of most human populations and in a Y-chromosome STR analysis, but not in a previous study of 11 Y-chromosome SNPs in Europeans. (springer.com)
  • Bertorelle, G, Slatkin, M 1995 The number of segregating sites in expanding human populations, with implications for estimates of demographic parameters. (springer.com)
  • The West Liao River valley in Northeast China is an ecologically diverse region, populated in prehistory by human populations with a wide range of cultures and modes of subsistence. (daum.net)
  • They reveal the temporal continuity of Y chromosome lineages in populations of the West Liao River valley over 5000 years, with a concurrent increase in lineage diversity caused by an influx of immigrants from other populations. (daum.net)
  • The spatial distribution of mtDNA haplogroups C, D and Z and Y-chromosome haplogroups C, N and Q contrasts their high frequency among Altaic populations and their occasional appearance in Bulgarians. (scirp.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)
  • 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)
  • In this paper, we show that mismatch distributions and tests of mutation/drift equilibrium based on up to 166 Y-chromosome SNPs, in 46 samples from all continents, also fail to support an increase of the male effective population size. (springer.com)
  • 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)
  • 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)
  • Since, the Y chromosome has lost 781 of the 800 genes it originally shared with the X chromosome, all thanks to mutation. (gizmodo.com)
  • The X chromosome has a different inheritance pattern from the autosomes, direct interaction and potential conflict with the Y chromosome, and fewer copies than the autosomes. (pnas.org)
  • The unique inheritance pattern of the X chromosome exposes it to natural selection in a way that is different from that of the autosomes, potentially resulting in accelerated evolution. (pnas.org)
  • Uniparental disomy is the inheritance of two homologous chromosomes from one parent. (thefullwiki.org)
  • The gene encoding Aurora A is on the long arm of chromosome 20 (20q13.2-13.3), a region that is frequently amplified in epithelial cancers ( 2 , 4 - 6 ). (aacrjournals.org)
  • 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)
  • 7 8 Long-term survival rates range from 35% to 40% in children to less than 20% in adults. (bloodjournal.org)
  • The human gemomic HindIII fragments hybridized to each microclone were determined and microclones crosshybridized to rodent species were identified. (springer.com)
  • These structures are strikingly similar between different species, from zebrafish to humans. (phys.org)
  • We find that the X chromosome contains megabase-sized regions that are almost without variation in most species. (pnas.org)
  • We perform a comparative analysis of X chromosome polymorphism in 10 great ape species, including humans. (pnas.org)
  • As noted above, the chromosome number varies in different species. (conservapedia.com)
  • 6. Chromosomes - Chromosomes are structures made up of DNA and proteins found in the cells of all organisms.The number of chromosomes is species- specific.In humans it is 46. (medindia.net)
  • For a long time, biologists have predicted that the Y chromosome-the DNA that makes men men -was gradually dying out, and that it would eventually lead to the extiniction of the male of the species. (gizmodo.com)
  • The science of comparing the genome sequences of humans and other species in order to discover similarities and differences in biology. (genomenewsnetwork.org)
  • Early in embryonic development in females, one of the two X chromosomes is permanently inactivated in nearly all somatic cells (cells other than egg and sperm cells). (wikipedia.org)
  • In contrast, another study reported XIST coating on both X‐chromosomes accompanied by partial exclusion of RNA‐Pol II in most early embryonic cells without the transcriptional silencing of X‐linked genes, indicating incipient X‐inactivation during pre‐implantation development. (embopress.org)
  • Whole Genome Shotgun Sequencing (WGSS) was subsequently performed on the Hulk, from which chromosome γ was assembled and Bacterial Artificial Chromosomes (BAC) were created. (ubc.ca)
  • 8. Soloviev I.V., Yurov Y.B., Yorsanova S.G., Malet P. Microwave activation of fluorescence in situ hybridization: a novel method for rapid chromosome detection and analysis. (web.ru)
  • 13. Vorsanova S.G., Yurov Y.B., Soloviev I.V., Demidova I.A., Malet P. Rapid identification of marker chromosomes by in situ hybridization under different stringency conditions. (web.ru)
  • 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)
  • In addition, these findings provide exciting new insights into the structure and evolution of mammalian genomes," said Francis S. Collins, M.D., Ph.D., director of NHGRI, which led the U.S. component of the Human Genome Project along with the DOE. (innovations-report.com)
  • Alonso, S, Armour, JA 2001 A highly variable segment of human subterminal 16p reveals a history of population growth for modern humans outside Africa. (springer.com)
  • Meiotic spindle formation in mammalian oocytes: implications for human infertility Namgoong, Suk;Kim, Nam-Hyung 2018-02-01 00:00:00 Abstract In the final stage of oogenesis, mammalian oocytes generate a meiotic spindle and undergo chromosome segregation to yield an egg that is ready for fertilization. (deepdyve.com)
  • 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 ). (wikipedia.org)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (bionity.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)
  • Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. (medlineplus.gov)
  • This list was generated on Sat Jul 20 16:19:42 2019 BST . (whiterose.ac.uk)
  • When Alexander Gimelbrant, who is Assistant Professor at Dana Farber Cancer Institute and co-first author of the article, checked, the female human ES cells exposed to 20% oxygen had one X chromosome permanently inactivated. (healthcanal.com)
  • 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)
  • The haploid human genome contains ca. 23,000 protein-coding genes , far fewer than had been expected before its sequencing. (thefullwiki.org)
  • Cell division in the germ cells, eggs and sperm (meiosis), results in the creation of daughter cells with half the number of chromosomes as the original cell (haploid cells). (conservapedia.com)
  • Common regions of chromosome (chr) 3 loss have been observed in all types of serous ovarian tumours, including benign, suggesting that these regions contain genes important in the development of all ovarian serous carcinomas. (pubmedcentralcanada.ca)
  • Six of these markers involve regions of chromosome N7, while three are recognized as derivatives of chromosome N6. (atcc.org)
  • Three region-specific libraries for the entire human chromosome 18 were constructed using microdissection and MboI linker-adaptor microcloning techniques. (springer.com)
  • Korenberg J. R. & Rykowski, M. C. Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands. (thefullwiki.org)
  • 4. The method according to claim 1, wherein the cellular material is a metaphase chromosome. (google.com)
  • A substantial number (11/24) of human-NLE gibbon breakpoints showed new insertions of gibbon-specific repeats and mosaic structures formed from disparate sequences including segmental duplications, LINE, SINE, and LTR elements. (nih.gov)
  • Why the nucleotide sequences at each end of human chromosomes are 'NNNNN. (biostars.org)
  • The human genome has many different regulatory sequences which are crucial to controlling gene expression . (thefullwiki.org)
  • These vertebrates have essentially the same genes and regulatory gene sequences as humans, but with only one-eighth the "junk" DNA. (thefullwiki.org)
  • Protein-coding sequences (specifically, coding exons ) comprise less than 1.5% of the human genome. (thefullwiki.org)
  • [ 4 ] Aside from genes and known regulatory sequences, the human genome contains vast regions of DNA the function of which, if any, remains unknown. (thefullwiki.org)
  • A telomere is a region of repetitive DNA sequences at the end of a chromosome, which protects the end of the chromosome from deterioration or from fusion with neighboring chromosomes. (absoluteastronomy.com)
  • Find this article online O'Keefe RT, Henderson SC, Spector DL (1992) Dynamic organization of DNA replication in mammalian cell nuclei: Spatially and temporally defined replication of chromosome-specific alpha-satellite DNA sequences. (thefullwiki.org)
  • Recently the coding sequences of the human Na + dependent VC transporters types 1 and 2, hSVCT1 and hSVCT2, products of the SLC23A2 and SLC23A1 genes, respectively, were identified. (bmj.com)
  • Chromosome 22 was the first human chromosome to be fully sequenced. (bionity.com)
  • Our interests lie in developing powerful new polymorphic marker systems, and applying these to questions of population structure and history, genealogy, forensics, and the investigation of selective influences on the Y chromosome. (le.ac.uk)
  • Nineteen marker chromosomes were identified, with most of them formed from structural alterations of the missing copies of the normal chromosomes. (atcc.org)
  • Intron 19 contains a CA dinucleotide repeat which is a highly polymorphic marker : D20S1154 (12 alleles with heterozygosity of 85.8% and PIC of 0.844). (atlasgeneticsoncology.org)
  • People normally have two copies of this chromosome. (wikipedia.org)
  • Humans normally have two copies of this chromosome, as they normally do with all chromosomes. (wikipedia.org)
  • 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)
  • Changes to chromosome 10 include an extra piece of the chromosome in each cell (partial trisomy), a missing segment of the chromosome in each cell (partial monosomy), and an abnormal structure called a ring chromosome 10. (medlineplus.gov)
  • The presence of a structurally abnormal third X chromosome has not demonstrably affected this patient or her reproduction. (bmj.com)
  • Polymeropoulos MH, Torres R, Yanovski JA, Chandrasekharappa SC, Ledbetter DH , The human corticotropin-releasing factor receptor (CRHR) gene maps to chromosome 17q12-q22. (coriell.org)
  • This set of overlapping clones will promote our knowledge of the structure of this chromosome and the function of its genes. (nature.com)
  • however, some smaller deletions occur within the arm of the chromosome. (medlineplus.gov)
  • Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites. (nih.gov)
  • 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)
  • It fuses part of a specific gene from chromosome 11 (the KMT2A gene) with part of another gene from chromosome 10 (the MLLT10 gene). (medlineplus.gov)
  • The translocation, written as t(8;21), fuses part of the RUNX1T1 gene (also known as ETO ) from chromosome 8 with part of the RUNX1 gene from chromosome 21. (medlineplus.gov)
  • Changes in the number and structure of chromosome 10 are associated with several types of cancer. (medlineplus.gov)
  • Other changes in the number or structure of chromosome 10 can have a variety of effects. (medlineplus.gov)
  • Extra material from chromosome 13 disrupts the course of normal development, causing the characteristic signs and symptoms of trisomy 13. (bionity.com)
  • Translocations or inversions (breakage of a chromosome in two places) can also lead to extra or missing material from chromosome 10. (medlineplus.gov)
  • Cremer, T. & Cremer, C. Chromosome territories, nuclear architecture and gene regulation in mammalian cells. (nature.com)
  • For the same reason, a male-beneficial allele may be fixed by selection even when a deleterious effect in females far exceeds the advantageous effect in males ( 3 ), making the X chromosome a potential target of sexually antagonistic genes. (pnas.org)
  • The intestinal tract is an important barrier for preventing bacterial translocation and endotoxin entering human organs. (hindawi.com)
  • The most common translocation involved in this condition, written as t(8;13)(p11;q12), fuses part of the FGFR1 gene on chromosome 8 with part of the ZMYM2 gene on chromosome 13. (medlineplus.gov)
  • Arthritis Research & Therapy (2018) 20:100 Page 2 of 10 Background biological insights have been gained in different complex Systemic lupus erythematosus (SLE [MIM: 152700]) is a diseases, including autoimmune diseases [12]. (deepdyve.com)
  • 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)
  • Because beneficial and recessive X-linked mutations are fully exposed to selection in males, the X chromosome may experience increased rates of adaptive evolution ( 1 , 2 ). (pnas.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)
  • The study of chromosome banding pattern of leukaemic cells in 15 patients with CML revealed t(9;22) in all cases. (biomedsearch.com)
  • When human ES cells are isolated at 20% oxygen, they are stressed and they inactivate one X chromosome in female cells," says Founding Whitehead Member Rudolf Jaenisch . (healthcanal.com)
  • This argues that the conventional way to make human ES cells is not optimal. (healthcanal.com)
  • Scientists are interested in human ES cells because they have the ability to mature into almost any cell type in the body, a trait known as pluripotency. (healthcanal.com)
  • Also, human ES cells are the only tool we have to study the beginning of human development," says Maisam Mitalipova, Director of the Whitehead Human Stem Cell Facility and designer of the study reported in Cell . (healthcanal.com)
  • But human ES cells, even from the same cell lines, have been yielding different results in experiments. (healthcanal.com)
  • Human ES cells are usually derived from fertilized eggs that were designated for research by patients of in vitro fertilization (IVF) clinics. (healthcanal.com)
  • Traditionally, all of this work, from creating the fertilized eggs at the IVF clinic to the isolation and maintenance of the human ES cells in the lab, has been performed at atmospheric levels of oxygen. (healthcanal.com)
  • The resulting human ES cells display multiple differences in their genomes indicating they are at a slightly less flexible and pluripotent state than are mouse ES cells. (healthcanal.com)
  • For example, after early random inactivation, female human ES cells always have the same X chromosome inactivated while mouse ES cells have two active X chromosomes until the cells begin differentiating, when one of the X chromosomes is randomly inactivated in each cell. (healthcanal.com)
  • To test how oxygen levels during isolation and culture affect human ES cells, Mitalipova created six new human ES cell lines-two male and four female. (healthcanal.com)
  • Half of the cells isolated from each embryo were cultured in 20% oxygen, while the other half were created and maintained at 5% oxygen. (healthcanal.com)
  • When you expose the human ES cells to atmospheric oxygen for just a few days, the whole genome goes crazy - there are massive gene expression changes," says Lengner. (healthcanal.com)
  • But after a period of time the human ES cells adapt to the atmospheric oxygen and almost all of these changes normalized again, except for the X inactivation gene XIST , which remained strongly switched on. (healthcanal.com)
  • However, the human ES cells derived at 5% oxygen did not exhibit the strong activation of the XIST gene, and both X chromosomes in the female cells remained active-an indication that these cells were in a more developmentally pristine state than their counterparts cultured in atmospheric oxygen. (healthcanal.com)
  • Although this work focused on the effects of environmental oxygen levels, other factors may have similar negative effects on human ES cells. (healthcanal.com)
  • It seems that stress in general, like inefficiently freezing cells in the laboratory or embryos at the IVFclinic or manipulating the cells a lot, can make the cells inactivate an X chromosome and lose some pluripotency," says Mitalipova. (healthcanal.com)
  • Studies have shown that like murine adult female somatic cells, the human counterparts also have many genes inactivated in one of the X‐chromosomes. (embopress.org)
  • The gene is expressed in human follicles, corpora lutea and endometrial carcinoma cells [ 11 - 13 ]. (pubmedcentralcanada.ca)
  • We determined the effects of vorinostat (suberoylanalide hydroxamic acid) and/or MK-0457 (VX-680), an Aurora kinase inhibitor on the cultured human (HL-60, OCI-AML3, and K562) and primary acute myelogenous leukemia (AML) and chronic myelogenous leukemia (CML), as well as on the murine pro-B BaF3 cells with ectopic expression of the unmutated and mutant forms of Bcr-Abl. (aacrjournals.org)
  • These findings merit in vivo testing of the combination against human AML and CML cells, especially against imatinib mesylate-resistant Bcr-AblT315I-expressing CML Cells. (aacrjournals.org)
  • Aurora A overexpression is also commonly observed in human acute leukemia cells ( 2 ). (aacrjournals.org)
  • We explored systematic annotation by using homologous recombination to modify a native gene in hemizygous (wt/Δexon) human cancer cells, generating a novel syngeneic variance library (SyVaL). (aacrjournals.org)
  • Also, the cycle stops if chromosomes are not distributed accurately to daughter cells. (slideshare.net)
  • However, human cells make extensive use of alternative splicing to produce several different proteins from a single gene, and the human proteome is thought to be much larger than those of the aforementioned organisms. (thefullwiki.org)
  • Chromosomes are visible only during cell division, when the DNA is super coiled and condensed to facilitate distribution into daughter cells. (conservapedia.com)
  • Indirect immunofluorescence studies of cultured cells using antisera specific to human βIII spectrin reveal a Golgi-associated and punctate cytoplasmic vesicle-like distribution, suggesting that βIII spectrin associates with intracellular organelles. (pnas.org)
  • we can get totipotent stem cells from human embryos that are created invitro in ART labs. (medindia.net)
  • A chromosome is an organized structure of DNA and protein found in cells. (absoluteastronomy.com)
  • The association of cancerous tumors with a loss of chromosome 10 suggests that some genes on this chromosome play critical roles in controlling the growth and division of cells. (medlineplus.gov)
  • Treatment of normal cells with γ-radiation caused a dissociation of the γ- from the X-chromosome. (ubc.ca)
  • Acentriolar spindle formation in mammalian oocytes In contrast to somatic cells, mouse and human oocytes do not contain typical centrosomes. (deepdyve.com)
  • Chromosomes are the structures in cells that "package" genes and ensure their safe transfer into new cells. (genomenewsnetwork.org)
  • Most human genes are active, or turn on, only in certain cells under certain conditions. (genomenewsnetwork.org)
  • Dosage compensation in human pre‐implantation embryos: X‐chromosome inactivation or dampening? (embopress.org)
  • The monkey's Y chromosome contains just 20 genes, and 19 of them are identical to those of the human Y. (gizmodo.com)
  • 1) Chromatid - one of the two identical parts of the chromosome after S phase . (thefullwiki.org)
  • Understanding the mechanisms of MI/MII spindle formation, spindle assembly checkpoint, and chromosome segregation, in mammalian oocytes, will provide valuable insights into the molecular mechanisms of human infertility. (deepdyve.com)
  • Recent studies have shown that the mechanisms for spindle formation and chromosome segregation, in human oocytes, are distinct from those in mouse oocytes [7, 8]. (deepdyve.com)
  • Understanding the mechanisms of meiotic spindle formation in mammalian oocytes, particularly in humans, will provide valuable information for the development of diagnostic and therapeutic strategies for aneuploidy-caused infertility. (deepdyve.com)
  • In this review, we examine the mechanisms of meiotic spindle formation in mammalian oocytes and focus on the differences between these mechanisms in mouse and human oocytes. (deepdyve.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)
  • The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, following its subsequent discovery. (wikipedia.org)
  • A detailed analysis of chromosomes 2 and 4 has detected the largest "gene deserts" known in the human genome and uncovered more evidence that human chromosome 2 arose from the fusion of two ancestral ape chromosomes, researchers supported by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH), reported today. (innovations-report.com)
  • However, researchers suspect such regions are important to human biology because they have been conserved throughout the evolution of mammals and birds, and work is now underway to figure out their exact functions. (innovations-report.com)
  • For more than two decades, researchers have thought human chromosome 2 was produced as the result of the fusion of two mid-sized ape chromosomes and a Seattle group located the fusion site in 2002. (innovations-report.com)
  • In another intriguing finding, the researchers identified a messenger RNA (mRNA) transcript from a gene on chromosome 2 that possibly may produce a protein unique to humans and chimps. (innovations-report.com)
  • Researchers are working to identify the specific genes on chromosome 10 that may be involved in the development and progression of gliomas. (medlineplus.gov)
  • A team of researchers has compared the human Y chromosome to that of the rhesus macaque - a primate that diverged from humans around 25 million years ago. (gizmodo.com)