Chromosomes: 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)Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Y Chromosome: The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.X Chromosome: 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.Chromosome Banding: 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.Sex Chromosomes: 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)Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human: 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.Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Receptors, Neuropeptide Y: Cell surface proteins that bind neuropeptide Y with high affinity and trigger intracellular changes which influence the behavior of cells.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Human, 6-12 and X: 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.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Seminal Plasma Proteins: Proteins found in SEMEN. Major seminal plasma proteins are secretory proteins from the male sex accessory glands, such as the SEMINAL VESICLES and the PROSTATE. They include the seminal vesicle-specific antigen, an ejaculate clotting protein; and the PROSTATE-SPECIFIC ANTIGEN, a protease and an esterase.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.In Situ Hybridization, Fluorescence: 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.Chromosome Disorders: 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)Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Chromosomes, Artificial, Bacterial: DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.Genes, Y-Linked: Genes that are located on the Y CHROMOSOME.Chromosomes, Human, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Chromosome Painting: 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.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Karyotyping: Mapping of the KARYOTYPE of a cell.Molecular Sequence Data: 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.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosomes, Artificial, Yeast: 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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Genes, sry: The primary testis-determining gene in mammalians, located on the Y CHROMOSOME. It codes for a high mobility group box transcription factor (TRANSCRIPTION FACTORS) which initiates the development of the TESTES from the embryonic GONADS.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.Sequence Tagged Sites: 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.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Chromosomes, Human, 21-22 and Y: 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.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Microsatellite Repeats: 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).Chromosome Inversion: 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.Chromosome Positioning: The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.Recombination, Genetic: 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.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.Haplotypes: 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.X Chromosome Inactivation: 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.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Retinoblastoma: A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104)Centromere: The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.Genetic Loci: 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.Mutation: 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.Gonadal Dysgenesis: A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.Oligospermia: A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Meiosis: 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.Hybrid 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.Genetic Variation: Genotypic differences observed among individuals in a population.Chromosomes, Human, 19-20: The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.Cloning, Molecular: 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.Aneuploidy: 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).Metaphase: 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.Mitosis: 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.Infertility, Male: The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.Sex-Determining Region Y Protein: A transcription factor that plays an essential role in the development of the TESTES. It is encoded by a gene on the Y chromosome and contains a specific HMG-BOX DOMAIN that is found within members of the SOX family of transcription factors.Polymorphism, Genetic: 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.Sex Chromosome Aberrations: Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.Repetitive Sequences, Nucleic Acid: 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).DNA: 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).Sex Determination Analysis: Validation of the SEX of an individual by inspection of the GONADS and/or by genetic tests.Amino Acid Sequence: 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.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."RNA, Small Cytoplasmic: Small RNAs found in the cytoplasm usually complexed with proteins in scRNPs (RIBONUCLEOPROTEINS, SMALL CYTOPLASMIC).Crosses, Genetic: 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.Models, Genetic: 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.Pedigree: 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.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Spermatogenesis: The process of germ cell development in the male from the primordial germ cells, through SPERMATOGONIA; SPERMATOCYTES; SPERMATIDS; to the mature haploid SPERMATOZOA.Polymerase Chain Reaction: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Gene Deletion: 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.Gene Dosage: 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.Genes: 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.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Tandem Repeat Sequences: Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).Sequence Homology, Nucleic Acid: 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.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Pancreatic Polypeptide: A 36-amino acid pancreatic hormone that is secreted mainly by endocrine cells found at the periphery of the ISLETS OF LANGERHANS and adjacent to cells containing SOMATOSTATIN and GLUCAGON. Pancreatic polypeptide (PP), when administered peripherally, can suppress gastric secretion, gastric emptying, pancreatic enzyme secretion, and appetite. A lack of pancreatic polypeptide (PP) has been associated with OBESITY in rats and mice.Nondisjunction, Genetic: 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.Nuclear Proteins: 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.Chromosomes, Artificial, Human: 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.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Receptors, Purinergic P2Y1: A subclass of purinergic P2Y receptors that have a preference for ATP and ADP. The activated P2Y1 receptor signals through the G-PROTEIN-coupled activation of PHOSPHOLIPASE C and mobilization of intracellular CALCIUM.Nucleic Acid Hybridization: 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)Telomere: 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.Gene Conversion: The asymmetrical segregation of genes during replication which leads to the production of non-reciprocal recombinant strands and the apparent conversion of one allele into another. Thus, e.g., the meiotic products of an Aa individual may be AAAa or aaaA instead of AAaa, i.e., the A allele has been converted into the a allele or vice versa.Chromosome Walking: 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.Neuropeptide Y: A 36-amino acid peptide present in many organs and in many sympathetic noradrenergic neurons. It has vasoconstrictor and natriuretic activity and regulates local blood flow, glandular secretion, and smooth muscle activity. The peptide also stimulates feeding and drinking behavior and influences secretion of pituitary hormones.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Chromosomal Proteins, Non-Histone: 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.Blotting, Southern: 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.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Spindle Apparatus: 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.Testis: The male gonad containing two functional parts: the SEMINIFEROUS TUBULES for the production and transport of male germ cells (SPERMATOGENESIS) and the interstitial compartment containing LEYDIG CELLS that produce ANDROGENS.Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.DNA Primers: 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.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.DNA, Satellite: 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.DNA Probes: 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.Genetics, Population: The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Chromatids: 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)Mosaicism: 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.RNA-Binding Proteins: Proteins that bind to RNA molecules. Included here are RIBONUCLEOPROTEINS and other proteins whose function is to bind specifically to RNA.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Abnormalities, MultiplePolytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.Multigene Family: 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)DNA Replication: The process by which a DNA molecule is duplicated.DNA-Binding Proteins: 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.Prophase: 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.Interphase: 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).Cell Cycle Proteins: 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.Loss of Heterozygosity: 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.Genome, Human: 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.Cytogenetic Analysis: 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.Cytogenetics: 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.Karyotype: 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)Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.Plasmids: 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.Sex Chromosome Disorders: 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).Chromosome Fragile Sites: 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.)Chromatin: 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.Spermatocytes: 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.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Genes, X-Linked: Genes that are located on the X CHROMOSOME.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Polymorphism, Restriction Fragment Length: 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.Species Specificity: 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.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.DNA Transposable Elements: 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.Saccharomyces cerevisiae: 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.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Philadelphia Chromosome: 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).Azure Stains: PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.Cell Nucleus: 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)Chromosomes, Archaeal: Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.Homozygote: An individual in which both alleles at a given locus are identical.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Chromosome Breakpoints: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Ploidies: The degree of replication of the chromosome set in the karyotype.Escherichia coli: 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.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Sex Chromatin: 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)Genomic Imprinting: 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)Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Gene Amplification: 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.Drosophila: 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, Bacterial: The functional hereditary units of BACTERIA.Genes, Lethal: 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.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)DNA, Neoplasm: DNA present in neoplastic tissue.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Syndrome: A characteristic symptom complex.Chromosomes, Artificial: 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.Pachytene Stage: The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

The host genetic basis of differential outcomes in HIV infection, progression, viral load set point and highly active retroviral therapy (HAART) responses was examined for the common Y haplogroups in European Americans and African Americans. Accelerated progression to acquired immune deficiency syndrome (AIDS) and related death in European Americans among Y chromosome haplogroup I (Y-I) subjects was discovered. Additionally, Y-I haplogroup subjects on HAART took a longer time to HIV-1 viral suppression and were more likely to fail HAART. Both the accelerated progression and longer time to viral suppression results observed in haplogroup Y-I were significant after false-discovery-rate corrections. A higher frequency of AIDS-defining illnesses was also observed in haplogroup Y-I. These effects were independent of the previously identified autosomal AIDS restriction genes. When the Y-I haplogroup subjects were further subdivided into six I subhaplogroups, no one subhaplogroup accounted for the ...
The host genetic basis of differential outcomes in HIV infection, progression, viral load set point and highly active retroviral therapy (HAART) responses was examined for the common Y haplogroups in European Americans and African Americans. Accelerated progression to acquired immune deficiency syndrome (AIDS) and related death in European Americans among Y chromosome haplogroup I (Y-I) subjects was discovered. Additionally, Y-I haplogroup subjects on HAART took a longer time to HIV-1 viral suppression and were more likely to fail HAART. Both the accelerated progression and longer time to viral suppression results observed in haplogroup Y-I were significant after false-discovery-rate corrections. A higher frequency of AIDS-defining illnesses was also observed in haplogroup Y-I. These effects were independent of the previously identified autosomal AIDS restriction genes. When the Y-I haplogroup subjects were further subdivided into six I subhaplogroups, no one subhaplogroup accounted for the ...
Background: AZFc on human Y chromosome has been found to be functionally important in spermatogenesis. Complete AZFc deletion is one of the most frequent causes of male infertility, while roles of partial AZFc deletions (gr/gr deletion and b2/b3 deletion) in spermatogenesis are controversial. Methods: To further study the roles of partial AZFc deletions in spermatogenic impairment and the relationship between complete and partial AZFc deletions, we typed these deletions, did quantitative analysis of DAZ gene copies, and performed Y chromosome haplogrouping in seven pedigrees of complete AZFc deletion carriers, 296 infertile and 280 healthy men in Chinese. Results: Neither gr/gr deletion nor b2/b3 deletion was found to be associated with spermatogenic failure. In one pedigree, we observed that a complete AZFc deletion was derived from gr/gr deletion, suggesting that complete deletions of AZFc can be preceded with partial deletions. In addition, we identified a new gr/gr-deleted Y haplogroup Q1 ...
Introduction: Y chromosomes are genetically highly variable due to frequent structural rearrangements. The variations may create a genetic background for the susceptibility to Y-related spermatogenic impairment, although few data have been accumulated about the possible correlation between the Y-chromosome haplotype and the predisposition of men to spermatogenic failure.. Objective: To investigate the possible association of Y-chromosome background with spermatogenic failure.. Methods: The distribution of 18 Y-chromosome haplogroups was compared between 414 infertile men with azoospermia or oligozoospermia and 262 normozoospermic men with or without AZFc deletions in a Han population of Southwest China.. Results: A significant population difference in Y-haplogroup distribution was found between the groups of normozoospermia and azoospemia or oligozoospermia, and between the patient groups with oligozoospermia and azoospermia without AZFc deletions. Interpopulation comparison of Y haplogroup ...
The panels of 9-17 Y-chromosomal short tandem repeats (Y-STRs) currently used in forensic genetics have adequate resolution of different paternal lineages in many human populations, but have lower abilities to separate paternal lineages in populations expressing low Y-chromosome diversity. Moreover, current Y-STR sets usually fail to differentiate between related males who belong to the same paternal lineage and, as a consequence, conclusions cannot be drawn on the individual level as is desirable for forensic interpretations. Recently, we identified a new panel of rapidly mutating (RM) Y-STRs, composed of 13 markers with mutation rates above 1×10(-2), whereas most Y-STRs, including all currently used in forensics, have mutation rates in the order of 1×10(-3) or lower. In the present study, we demonstrate in 604 unrelated males sampled from 51 worldwide populations (HGDP-CEPH) that the RM Y-STRs provide substantially higher haplotype diversity and haplotype discrimination capacity (with only 3 ...
Sequencing the genomes of extinct hominids has reshaped our understanding of modern human origins. Here, we analyze ∼120 kb of exome-captured Y-chromosome DNA from a Neandertal individual from El Sidrón, Spain. We investigate its divergence from orthologous chimpanzee and modern human sequences and find strong support for a model that places the Neandertal lineage as an outgroup to modern human Y chromosomes-including A00, the highly divergent basal haplogroup. We estimate that the time to the most recent common ancestor (TMRCA) of Neandertal and modern human Y chromosomes is ∼588 thousand years ago (kya) (95% confidence interval [CI]: 447-806 kya). This is ∼2.1 (95% CI: 1.7-2.9) times longer than the TMRCA of A00 and other extant modern human Y-chromosome lineages. This estimate suggests that the Y-chromosome divergence mirrors the population divergence of Neandertals and modern human ancestors, and it refutes alternative scenarios of a relatively recent or super-archaic origin of ...
The most significant and widely studied remodeling of the African genetic landscape is the Bantu expansion, which led to an almost total replacement of the previous populations from the sub-Saharan region. However, a poor knowledge exists about other population movements, namely, the Nilotic migration, which is a pastoralist dispersal that, contrary to the Bantu expansion, impacted only East African populations. Here, samples from a Ugandan Nilotic-speaking population were studied for 37 Y chromosome-specific SNPs, and the obtained data were compared with those already available for other sub-Saharan population groups. Although Uganda lies on the fringe of both Bantu and Nilotic expansions, a low admixture with Bantu populations was detected, with haplogroups carrying M13, M182 and M75 mutations prevailing in Nilotes together with a low frequency of the main Bantu haplogroups from clade E1b1a-M2. The results of a comparative analysis with data from other population groups allowed a deeper
Nineteen Y-chromosomal short tandem repeats (STRs), DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS388, DYS434, DYS435, DYS436, DYS437, DYS438, DYS439, DYS460, DYS461 and DYS462 were typed in Inuit (n=70) and Danish (n=62) population samples.
Int J Legal Med. 1999;112(6):403-5. Haplotype frequencies of eight Y-chromosome STR loci in Barcelona (North-East Spain). Gene M, Borrego N, Xifro A, Pique E, Moreno P, Huguet E. Forensic Genetics Laboratory, Department of Legal Medicine, Faculty of Medicine, University of Barcelona, C. Casanova 143, E-08036 Barcelona, Spain. [email protected] Haplotype frequencies for eight Y-chromosomal short tandem repeat (STR) loci were determined in paragraph signa population sample
TUCSON, ARIZONA-Geneticists from the University of Arizona have identified an extremely rare Y chromosome that they say is the oldest-known branch of the human Y chromosome lineage tree. The discovery pushes back the most recent common ancestor for the lineage tree to 338,000 years ago, before the appearance of modern humans in the fossil record. This particular Y chromosome came from an African-American man living in South Carolina who had sent a DNA sample to a consumer genetic testing company. His Y chromosome was eventually matched with 11 men from western Cameroon. "And the sequences of those individuals are variable, so its not like they all descended from the same grandfather," said Michael Hammer of the University of Arizona. "It is likely that other divergent lineages will be found, whether in Africa or among African-Americans in the U.S. and that some of these may further increase the age of the Y chromosome tree," he added. ...
Approach and Results-A total of 1988 biologically unrelated men from 4 white European populations were genotyped using 11 Y chromosome single nucleotide polymorphisms and classified into 13 most common European haplogroups. Approximately 75% to 93% of the haplotypic variation of the Y chromosome in all cohorts was attributable to I, R1a, and R1b1b2 lineages. None of traditional cardiovascular risk factors, including body mass index, blood pressures, lipids, glucose, C-reactive protein, creatinine, and insulin resistance, was associated with haplogroup I of the Y chromosome in the joint inverse variance meta-analysis. Fourteen of 15 ubiquitous single-copy genes of the male-specific region were expressed in human macrophages. When compared with men with other haplogroups, carriers of haplogroup I had ≈0.61- and 0.64-fold lower expression of ubiquitously transcribed tetratricopeptide repeat, Y-linked gene (UTY) and protein kinase, Y-linked, pseudogene (PRKY) in macrophages (P=0.0001 and P=0.002, ...
This study is to survey 10 Y-STR loci in 241 males from Turkey. In this study, the 241 healthy and unrelated males living in different parts of Turkey for at least three generations were included. Genomic DNAs were isolated from peripheral blood samples by standard phenol-chloroform extraction method. 10 Y-STR loci including DYS19, DYS385a/b, DYS388, DYS389I/II, DYS390, DYS391, DYS392, DYS393, and YCAIIa/b were analyzed by using PCR and denaturing PAGE. Allele frequencies, gene diversities and haplotype frequencies were analyzed. Gene diversity per locus varied from 0.5788 (DYS388) to 0.8903 (DYS385a/b). The numbers of haplotypes in minHt recommended by YCC and Ht10 have been 208 and 186, respectively. When our minHt haplotypes frequencies compared with the other seven populations, we have found statistically significant differences between our results and other populations (P 0.05). We suggest that an alternative haplotype designated as aHt maybe alternative to minHt in respect of its Y-STR
The Y chromosome has recently been suggested to have an association with prostate cancer risk in human populations. Since this chromosome is haploid and lacks recombination over most of its length, haplotypes constructed from binary markers throughout the chromosome can be used for association studies. To assess the possible Y-chromosomal contribution to prostate cancer risk, we have therefore analyzed 14 Y-chromosomal binary markers in 106 prostate cancer cases and 110 controls from the Korean population. In contrast to previous findings in the Japanese population, no statistically significant difference in the distribution of Y-chromosomal haplogroup frequencies was observed between the case and control groups of Koreans. Thus, our data imply that the previously reported associations between Y-chromosomal lineages and a predisposition to, or protection against, prostate cancer might be explained by statistical fluctuations, or by genetic effects that are seen only in some environments.
The paternal haplogroup (hg) N is distributed from southeast Asia to eastern Europe. The demographic processes that have shaped the vast extent of this major Y chromosome lineage across numerous linguistically and autosomally divergent populations have previously been unresolved. On the basis of 94 high-coverage re-sequenced Y chromosomes, we establish and date a detailed hg N phylogeny. We evaluate geographic structure by using 16 distinguishing binary markers in 1,631 hg N Y chromosomes from a collection of 6,521 samples from 56 populations. The more southerly distributed sub-clade N4 emerged before N2a1 and N3, found mostly in the north, but the latter two display more elaborate branching patterns, indicative of regional contrasts in recent expansions. In particular, a number of prominent and well-defined clades with common N3a36 ancestry occur in regionally dissimilar northern Eurasian populations, indicating almost simultaneous regional diversification and expansion within the last 5,000 ...
Abstract Three main ethnic groups live in the South American country of Ecuador: Mestizos, Amerindian natives, and African-derived populations, or Afro-Ecuadorans. Mestizos and Afro-Ecuadorans can be considered trihybrid populations containing genes originating in the Americas, Europe, and Africa, as is the case with equivalent populations in other Latin American countries. The proportion and the dynamics of the admixture process remain unknown. However, a certain sex asymmetry of the admixture process can be expected for historical reasons. We typed 11 Y-chromosome short tandem repeats (STRs) in these three ethnic groups to provide adequate allele and haplotype frequencies for forensic genetic purposes and to quantify admixture proportions in male lineages. In addition, a data set of 15 autosomal STRs in the same samples were reanalyzed for the same purpose. Contributions to Mestizo Y chromosomes were estimated to be 70% European, 28% Amerindian, and 2% African, whereas in autosomes the ...
Azoospermia induced by Y chromosome microdeletions (AZF region) Test Cost INR 30000.00 Surat Pune Jaipur Lucknow Kanpur Nagpur Visakhapatnam Indore Thane Bhopal Patna Vadodara Ghaziabad Ludhiana Coimbatore Madurai Meerut Ranchi Allahabad Trivandrum Pondicherry Mysore Aligarh best offer discount price
Identification of the population origin of an individual is very useful for crime investigators who need to narrow down a suspect based on specimens left at a crime scene. Single nucleotide polymorphisms of the Y chromosome (Y-SNPs) are a class of markers of interest to forensic investigators because many of the markers indicate regional specificity, thus providing useful information about the geographic origin of a subject. We selected seven informative Y-SNPs (M168, M130, JST021355, M96, P126, P196, and P234) to differentiate the three major population groups (East Asian, European, and African) and used them to develop forensic application. Read More ...
Objective : To determine the prevalence and type of Y chromosome microdeletions in 136 consecutively seen intracytoplasmic sperm injection ICSI candidates and in 50 consecutively seen azoospermic men attending an infertility clinic. Design : Controlled clinical study. Setting : Genetics laboratory and infertility clinic at a University hospital....
This review considers genome-scale evidence on ancient Y chromosome diversity that has recently started to accumulate in geographic areas favourable to DNA preservation.
Background The Koreans are generally considered a northeast Asian group because of their geographical location. However, recent findings from Y chromosome studies showed that the Korean population contains lineages from both southern and northern parts of East Asia. To understand the genetic history and relationships of Korea more fully, additional data and analyses are necessary. Methodology and Results We analyzed mitochondrial DNA (mtDNA) sequence variation in the hypervariable segments I and II (HVS-I and HVS-II) and haplogroup-specific mutations in coding regions in 445 individuals from seven east Asian populations (Korean, Korean-Chinese, Mongolian, Manchurian, Han (Beijing), Vietnamese and Thais). In addition, published mtDNA haplogroup data (N = 3307), mtDNA HVS-I sequences (N = 2313), Y chromosome haplogroup data (N = 1697) and Y chromosome STR data (N = 2713) were analyzed to elucidate the genetic structure of East Asian populations. All the mtDNA profiles studied here were classified into
List of called snps for each sample. I2201 Abel T1a1a1b2b2b1a or T1a1a1b2b2b1a1a2 Darra.I.Kur_d Afghanistan_MBA_Darra_I_Kur R2 low coverage ALA008 Alalakh_MLBA H2a1 ALA001 Alalakh_MLBA J1a2a1a2d2b2b2 ALA018 Alalakh_MLBA J1a2a1a2d2b2b2 ALA035 Alalakh_MLBA J1a2a1a2d2b2b2 ALA002 Alalakh_MLBA J1a2a1a2d2b2b2c ALA026 Alalakh_MLBA J1a2a1a2d2b2b2c
The discovery and UA analysis of an extremely rare African American Y chromosome push back the time of the most recent common ancestor for the Y chromosome lineage tree to 338,000 years ago. This time predates the age of the oldest known anatomically modern human fossils.
Description: Background: A sexual dimorphism exists in the incidence and prevalence of coronary artery disease - men are more commonly affected than are age-matched women. We explored the role of the Y chromosome in coronary artery disease in the context of this sexual inequity. Methods: We genotyped 11 markers of the male-specific region of the Y chromosome in 3233 biologically unrelated British men from three cohorts: the British Heart Foundation Family Heart Study (BHF-FHS), West of Scotland Coronary Prevention Study (WOSCOPS), and Cardiogenics Study. On the basis of this information, each Y chromosome was tracked back into one of 13 ancient lineages defined as haplogroups. We then examined associations between common Y chromosome haplogroups and the risk of coronary artery disease in cross-sectional BHF-FHS and prospective WOSCOPS. Finally, we undertook functional analysis of Y chromosome effects on monocyte and macrophage transcriptome in British men from the Cardiogenics Study. Findings: ...
Haplogroup I-M253, also known as I1, is a Y chromosome haplogroup. The genetic markers confirmed as identifying I-M253 are the SNPs M253,M307.2/P203.2, M450/S109, P30, P40, L64, L75, L80, L81, L118, L121/S62, L123, L124/S64, L125/S65, L157.1, L186, and L187. It is a primary branch of Haplogroup I-M170 (I*). The haplogroup reaches its peak frequencies in Sweden (52 percent of males in Västra Götaland County) and western Finland (more than 50 percent in Satakunta province). In terms of national averages, I-M253 is found in 35-38 per cent of Swedish males, 32.8% of Danish males, about 31.5% of Norwegian males, and about 28% of Finnish males. Haplogroup I-M253 is a primary branch of haplogroup I* (I-M170), which has been present in Europe since ancient times. The other primary branch of I* is I-M438, also known as I2. Before a reclassification in 2008, the group was known as I1a, a name that has since been reassigned to a primary branch, haplogroup I-DF29. The other primary branches of I1 (M253) ...
We analyzed the AZFc region of the Y-chromosome for complete (b2/b4) and distinct partial deletions (gr/gr, b1/b3, b2/b3) in 822 infertile and 225 proven fertile men. We observed complete AZFc deletions in 0.97% and partial deletions in 6.20% of the cases. Among partial deletions, .... ...
Eesti Teadusinfosüsteem koondab informatsiooni teadus- ja arendusasutuste, teadlaste, teadusprojektide ning erinevate teadustegevuste tulemuste kohta.
A set of unique event polymorphisms associated with the non-recombining portion of the Y-chromosome (NRY) provides evidence concerning successful migrations originating from Africa, which can be interpreted as subsequent colonizations, differentiations and migrations overlaid upon previous population ranges ...
Read "Current state of research in ethnogenomics: Genome-wide analysis and uniparental markers, Russian Journal of Genetics" on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
Eesti Teadusinfosüsteem koondab informatsiooni teadus- ja arendusasutuste, teadlaste, teadusprojektide ning erinevate teadustegevuste tulemuste kohta.
Here is the new map of mt-haplogroup I. http://www.eupedia.com/images/content/mtDNA-I-map.png Its impossible to attribute an ethnic origin to the whole of haplogroup I as it is divided in 6 main branches and many subclades, which have a very different geographic distribution. Subclades - I1a is found in Central and Eastern Europe, in the Caucasus and in the British isles. I1a1a seem to be found almost exclusively among the Finns. I1b has been found in Sweden, Poland and
The Hindu Gotra System - Male Lineage Identification The Gotra is a system which associates a person with his most ancient or root ancestor in an unbroken male lineage. For instance if a person says that he belongs to the Bharadwaja Gotra then it means that he traces back his male ancestry to the ancient…
We all have 46 chromosomes: 23 of them are inherited from our father and 23 are from our mother. The genetic information for our entire body is stored
The Jats represent a large ethnic community that has inhabited the northwest region of India and Pakistan for several thousand years. It is estimated the community has a population of over 123 million people. Many historians and academics have asserted that the Jats are descendants of Aryans, Scythians, or other ancient people that arrived and lived in northern India at one time. Essentially, the specific origin of these people has remained a matter of contention for a long time. This study demonstrated that the origins of Jats can be clarified by identifying their Y-chromosome haplogroups and tracing their genetic markers on the Y-DNA haplogroup tree. A sample of 302 Y-chromosome haplotypes of Jats in India and Pakistan was analyzed. The results showed that the sample population had several different lines of ancestry and emerged from at least nine different geographical regions of the world. It also became evident that the Jats did not have a unique set of genes, but shared an underlying genetic unity
Paleoanthropological evidence indicates that modern humans reached South Asia in one of the first dispersals out of Africa, which were later followed by migrations from different parts of the world. The variation of 20 microsatellite and 38 binary polymorphisms on the non-recombining part of the uniparental, hapliod Y-chromosome was examined in 1434 male individual of 87 different populations of India to investigate various hypothesis of migration and peopling of South Asia Sub-continent. This study revealed a total of 24 paternal lineages, of which haplogroups H, R1a1, O2a and R2 portrayed for approximately 70% of the Indian Y-Chromosomes. The high NRY diversity value (0.893) and coalescence age of approx. 45-50 KYA for H and C haplogroups signified an early settlement of the subcontinent by modern humans. Haplogroup frequency and AMOVA results provide similar evidence in support of a common Pleistocene origin of Indian populations, with partial influence of Indo-European gene pool on the ...
Best 10 publications: 1 E Rai, S Sharma, A Koul, AK Bhat, AJS Bhanwer and RNK Bamezai. (2007). Interaction between the UCP2-866G/A. mtDNA 10398G/A and PGCαр. Thr394Thr and р.Gly482Ser polymorphisms in type 2 diabetes susceptibility in North Indian population. Hum Genet.122:535-540 2 Swarkar Sharma, Ekta Rai, Audesh K Bhat, AJS Bhanwer and Rameshwar NK Bamezai (2007) A novel subgroup Q5 of human Y-chromosomal haplogroup Q in India, BMC Evolutionary Biology, 7:232 doi:10.1186/1471-2148-7-232 3 Sharma, S., Rai, E., Sharma, P., Jena, M., Singh, S., Darvish, K., Bhat, A.K., Bhanwer, AJS, Tiwari, P.K. and Bamezai, R.N.K. (2009). The Indian origin of paternal haplogroup R1a1 substantiates the autochthonous origin of Brahmins and the caste system. J. Hum. Genet. 54:47-55 4 J.S. Saini , A. Kumar , K. Matharoo , J. Sokhi, Badaruddoza , AJS Bhanwer (2012) Genomic diversity and affinities in population groups of North West India: An analysis of Alu insertion and a single nucleotide polymorphism. Gene ...
We have characterized the Y chromosome carried by President Thomas Jefferson, the general rarity of which supported the idea that he, or a patrilineal relative, fathered the last son of his slave Sally Hemings. It belongs to haplogroup K2, a lineage representing only approximately 1% of chromosomes worldwide, and most common in East Africa and the Middle East. Phylogenetic network analysis of its Y-STR (short tandem repeat) haplotype shows that it is most closely related to an Egyptian K2 haplotype, but the presence of scattered and diverse European haplotypes within the network is nonetheless consistent with Jeffersons patrilineage belonging to an ancient and rare indigenous European type. This is supported by the observation that two of 85 unrelated British men sharing the surname Jefferson also share the Presidents Y-STR haplotype within haplogroup K2. Our findings represent a cautionary tale in showing the difficulty of assigning individual ancestry based on a Y-chromosome haplotype, ...
Background Koreans are generally considered a Northeast Asian group, thought to be related to Altaic-language-speaking populations. However, recent findings have indicated that the peopling of Korea...
The general parent Y-chromosome Haplogroup E1b1b (formerly known as E3b), which originated in either the Horn of Africa[70] or the Near East,[41] is by far the most common clade in North and Northeast Africa, and is also common throughout the majority of Europe, particularly in the Mediterranean and South Eastern Europe. E1b1b reaches its highest concentration in Greece and the Balkan region, but also enjoys a significant presence in other regions such as Hungary, Italy, France, Iberia and Austria. [5].[70]. Outside of North and Northeast Africa, E1b1bs two most prevalent clades are E1b1b1a (E-M78, formerly E3b1a) and E1b1b1b (E-M81, formerly E3b1b).. E1b1b1a is the most common subclade of E1b1b and is present throughout Europe. It was originally thought to have been a marker of Neolithic migrations (perhaps coinciding with the introduction of Agriculture into Europe) from Anatolia to Europe, via the Balkans, where it enjoys the highest frequency. However, Crucianis latest study suggests that ...
Australias risks losing its valuable native plants that could help solve a global food problem. So do we need new laws to stop the seeds being taken overseas?
View Notes - Lecture_9_-_Variation_in_Chromosome_Number-1 from DARY 2072 at LSU. Lecture 9 Lecture Chromosome Mutations: Variation in Chromosome Variation Number & Arrangement Modifications of
Unique Jan Brouwer Genetic Marker Found: Results from extending the Y-DNA test to 67 markers in some members of the Jan Brouwer descendants has revealed that we have a marker value that is so rare that it is specific to identifying our own family branch within the larger haplogroup I2b1c. A very rare DYS565 Allele value of 7 repeats has been found in the Jan Brouwer descendants. This value defines a unique family branch within the major haplogroup I2b1c; a mutation that likely occurred in an ancestor living in the Belgium / Netherlands / Germany region 400 to 700 years before the present. If two people share the allele value on this marker and are similar enough across the rest of the markers to share a common ancestor in a genealogical time frame, then they belong to the same family branch and everyone without the rare allele does not." - Richard Brewer. ...
Ive developed a mild interest in East-West phylogeography in Europe in regards to human populations. In the process I stumbled onto this paper, Geographical heterogeneity of Y-chromosomal lineages in Norway. Ive put the full PDF in the forum, here. Standard caveat, take this with a grain of salt!!! But, Ive put some maps below that readers might find of interest ...
DAZ2 is a member of the DAZ family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). This RNA-binding protein is important for…
About the males sharing in their Y-chromosome the following mutations (SNPs): M304/Page16, P209, S6/L60, S34, S35, L134, 12f2a, 12f2.1. Project page @ FamilyTreeDNA - Images - Archive - Forum MolGen/J FTDNA J Draft (Research) - ISOGG J (Genealogy) - YCC Karafet et al 2008 J (Science) ...
Butter is one of those foods that offends the "Paleo Police" - those who omit foods from their diet based solely on the logic, "Paleolithic man didnt consume it." Yes, from a purely evolutionary perspective, blah, blah, blah. We get it. But our perspective on food, while built on a solid "genetic heritage" foundation, isnt really concerned with whether a make-believe Grok would have exhibited a certain behavior or eaten a certain food. And in the case of butter, we think Grok is (mostly) irrelevant. What were actually more concerned with is whether a particular food choice makes us more healthy or less healthy. And while were not encouraging everyone to eat more butter, we do consider ita bit of an outlier in the dairy category, which is why were exploring the subject here.. Butter is the glorious, concentrated solid fat that is produced by churning cream. Though it can be made from the milk of sheep, goats, and even yaks - ew - most folks get their butter from cows. We know very few sane ...
Lastly, I urge you to be careful about your interpretation of what EP actually says. People who have only a passing acquaintance with EP seem to have this fixation with the notion that EP is deterministic: that your genes dictate your personality. This is a hoary old argument (nature versus nurture) and its a complete waste of time. The relationship between genes and culture is extremely complex and many issues are still being hammered out. I myself like to think of personality as a layered structure: the genes provide the foundation, culture is built on top of that foundation, and individual experience lies on top of that. We all share the same basic foundation, but its hard to see that foundation because its buried underneath the other two. Hence, genetic heritage influences behavior only in an abstract, generalized way. Culture operates at a more visible level, and individual experience is the final icing on the cake that differentiates one person from another ...
One model for the spread of the agricultural way of life into Europe is of inexorable "demic diffusion" via a "wave of advance" of farming populations met by a land surplus. Conceptually and analytically its an elegant model. Its also fundamentally methodologically individualistic, and so in keeping with the spirit of the age. Theres no need to appeal to higher order social structure or organization, farmers who have a specific cultural toolkit drive the dynamic through endogenous growth in pre-state cultures through the production of large families. This growth washes over the frontier of the advance, and the original locus of the demographic pulse synthesizes across a transect with the indigenous substrate. In the early aughts historical geneticists Bryan Sykes and L. L. Cavalli-Sforza sparred over whether demic diffusion was useful or not as a conceptual framework. Sykes reported chromosomal results which implied that 75 percent of the ancestry of Europeans derives from Pleistocene ...
The image above is adapted from the 2010 paper A Predominantly Neolithic Origin for European Paternal Lineages, and it shows the frequencies of Y chromosomal haplogroup R1b1b2 across Europe. As you can see as you approach the Atlantic the frequency converges upon ~100%. Interestingly the fraction of R1b1b2 is highest among populations such as the Basque and the Welsh. This was taken by some researchers in the late 1990s and early 2000s as evidence that the Welsh adopted a Celtic language, prior to which they spoke a dialect distantly related to Basque. Additionally, the assumption was that the Basques were the ur-Europeans. Descendants of the Paleolithic populations of the continent both biologically and culturally, so that the peculiar aspects of the Basque language were attributed by some to its ancient Stone Age origins.. As indicated by the title the above paper overturned such assumptions, and rather implied that the origin of R1b1b2 haplogroup was in the Near East, and associated with the ...
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Forensic use of Y-chromosome DNA: a general overview. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
Haplogroup R8a1a2 is a branch on the maternal tree of human kind. Its age is between 5,900 and 13,000 years (Behar et al., 2012b).
All this processes make each one of us a really complex mosaic of DNA sequences, mixed each generation, which result in difficult analysis to reconstruct our past. Fortunately, this can be simplified by focusing in some special DNA sequences, which are not as affected by this mixing process. This special DNA sequences are present in DNA packages that dont follow this mixing process and then the package inherited from the parents would be almost identical to the copies inherited from the grandparents. This two DNA packages are the Y-chromosome which is inherited from every father to his sons, and the Mitochondrial-chromosome, which is inherited from each mother to her daughters and sons. The Y-chromosome contains approximately 58 million letters, while the Mitochondrial-chromosome contains approximately 16,569 letters, making the Y-chromosome much more informative, although with the disadvantage of being present only in men ...
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If youve taken a BigY test at Family Tree DNA or an equivalent test at Full Genomes or YSEQ you would be eligible to participate. You can find details of the project here ...
We know from at least the 1st millennium BC these non-Indo-European people lived in different parts of Europe, what was the main haplogroup among them?
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Geni Project: N-M178/P298 (Y-DNA). The purpose of this project is to document the paternal lineage of all peoples positive for the genetic m
Aim To investigate the population genetics of 17 short tandem repeat (STR) loci on the Y chromosome in the population of eastern Croatia. Methods We carried out a statistical analysis of the data from previously performed genetic analysis collected during routine forensic work by the Forensic Science Centre "Ivan Vucetic". A total of 220 unrelated healthy men from eastern Croatia were selected for the purpose of this study. Genomic DNA was extracted by Chelex from FTA® cards. Y-chromosomal STRs were determined using the AmpFISTR Yfiler PCR amplification kit. The haplotype frequencies were determined by direct counting and analyzed using Arlequin 3.1 and analysis of molecular variance calculated with the Y-chromosome haplotype reference database online analysis tool. Results A total of 207 haplotypes were recorded, 197 of which were unique (90%). Haplotype diversity was 0.9993, with the most frequent haplotype found in 4 of 220 men (1.8%). Average locus diversity was 0.600, and it ranged from ...
By one estimate, the human Y chromosome has lost 1,393 of its 1,438 original genes over the course of its existence, and linear extrapolation of this 1,393-gene loss over 300 million years gives a rate of genetic loss of 4.6 genes per million years.[21] Continued loss of genes at the rate of 4.6 genes per million years would result in a Y chromosome with no functional genes - that is the Y chromosome would lose complete function - within the next 10 million years, or half that time with the current age estimate of 160 million years.[16][22] Comparative genomic analysis reveals that many mammalian species are experiencing a similar loss of function in their heterozygous sex chromosome. Degeneration may simply be the fate of all non-recombining sex chromosomes, due to three common evolutionary forces: high mutation rate, inefficient selection, and genetic drift.[16] However, comparisons of the human and chimpanzee Y chromosomes (first published in 2005) show that the human Y chromosome has not ...
As part of the Napoléon I Genome (NIG) project we have reconstructed, based on more than one hundred Y-STRs (Y-short tandem repeats), the complete Y-haplotype of the non-recombinant part of the Y-chromosome (NRY) of French Emperor Napoléon I (1769-1821). We already knew the allelic values at Y-markers of the Y-chromosome of Napoléon I, but only for the palindromic STR YCAIIa and b and for the non-palindromic Y-STR DYS19. The present reconstruction aims to compare the allelic values at Y-STRs of the DNA of Charles Napoléon (C.N.), the living 4th generation descendant of Jérôme Bonaparte (Napoléon Is youngest brother), with those of Alexandre Colonna Walewski (A.C.W.), the living 4th generation descendant of Count Alexandre Walewski (the son born of the union between Napoléon I and Countess Maria Walewska). We have previously established that Napoléon I, C.N. and A.C.W. are of the same Y-haplogroup E1b1b1b2a1. The allelic values for C.N. and A.C.W. are the same for ninety-three other ...
Among the many chromosomes in a mans body, the smallest one with the largest personality has to be the Y chromosome. With it, you are a male; without it, you are a female, with few exceptions. More than any other chromosome, it really defines who you are.. The Y chromosome controls other traits as well: hairy ears, tooth enamel, and stature to name a few. But for the longest time, the Y chromosome was also considered home to a lot of "junk DNA" that we thought had no purpose. We now know that much of this DNA has a purpose and that the Y is the home of many important male fertility genes.. Before its association with male fertility, the Y chromosome was widely considered a genetic black hole, a chromosome that evolved as a broken remnant of the X chromosome. We knew that the "maleness" gene was on the Y and a few other genes. However, since the Y chromosome has been fully undressed as a result of the human genome project, we now know that it is very unique, even special, and that it evolves in ...
We rarely use Wikipedia as a resource, but this overview on bone density is quite well done. As with any medical issue or question, please consult your physician. The Wikipedia entry is a general discussion of the topic. It is not specifically related to X and Y Chromosome Variations. For individuals who are 47,XXY, untreated hypogonadism can lead to osteoporosis and osteopenia. Most benefit from testosterone replacement therapy (TRT). Those who identify as intersex or choose not to use TRT should seek competent medical help for alternative methods to preserve bone density.. Read more ...
Definition of Y chromosome in the Financial Dictionary - by Free online English dictionary and encyclopedia. What is Y chromosome? Meaning of Y chromosome as a finance term. What does Y chromosome mean in finance?
Chimp and Human Y Chromosomes Evolving Faster Than Expected Wednesday, 13 January 2010 Contrary to a widely held scientific theory that the mammalian Y chromosome is slowly decaying or stagnating, new evidence suggests that in fact the Y is actually evolving quite rapidly through continuous, wholesale renovation. By conducting the first comprehensive interspecies comparison of Y chromosomes, Whitehead Institute researchers have found considerable differences in the genetic sequences of the human and chimpanzee Ys - an indication that these chromosomes have evolved more quickly than the rest of their respective genomes over the 6 million years since they emerged from a common ancestor. The findings are published online this week in the journal Nature. "The region of the Y that is evolving the fastest is the part that plays a role in sperm production," say Jennifer Hughes, first author on the Nature paper and a postdoctoral researcher in Whitehead Institute Director David Pages lab. "The rest of ...
The human Y chromosome began to evolve from an autosome hundreds of millions of years ago, acquiring a sex-determining function and undergoing a series of inversions that suppressed crossing over with the X chromosome1, 2. Little is known about the recent evolution of the Y chromosome because only the human Y chromosome has been fully sequenced. Prevailing theories hold that Y chromosomes evolve by gene loss, the pace of which slows over time, eventually leading to a paucity of genes, and stasis3, 4. These theories have been buttressed by partial sequence data from newly emergent plant and animal Y chromosomes5, 6, 7, 8, but they have not been tested in older, highly evolved Y chromosomes such as that of humans. Here we finished sequencing of the male-specific region of the Y chromosome (MSY) in our closest living relative, the chimpanzee, chieving levels of accuracy and completion previously reached for the human MSY. By comparing the MSYs of the two species we show that they differ radically ...
An analysis of the genealogical and medical records of males in Utahs multi-generational families strongly supports the case that inherited variations in the Y chromosome, the male sex chromosome, play a role in the development of prostate cancer, according to a study presented on Friday, October 25, at the American Society of Human Genetics (ASHG) 2013 meeting in Boston. The study identified multiple, distinct Y chromosomes associated with a significant excess risk of prostate cancer, said Lisa Cannon-Albright, Ph.D., Professor and Chief of the Division of Genetic Epidemiology at the University of Utah School of Medicine. Dr. Cannon-Albright, who headed the study and presented the results, said that her lab plans to search these Y chromosomes for the genetic mutations that can predispose a man to develop prostate cancer, the second most frequently diagnosed cancer in the U.S. Because most of the Y chromosome does not recombine during cell division, it is passed virtually unchanged from father ...
Despite this, recent research has shown that the Y chromosome has developed some pretty convincing mechanisms to "put the brakes on", slowing the rate of gene loss to a possible standstill.. For example, a recent Danish study, published in PLoS Genetics, sequenced portions of the Y chromosome from 62 different men and found that it is prone to large scale structural rearrangements allowing "gene amplification" - the acquisition of multiple copies of genes that promote healthy sperm function and mitigate gene loss.. The study also showed that the Y chromosome has developed unusual structures called "palindromes" (DNA sequences that read the same forwards as backwards - like the word "kayak"), which protect it from further degradation. They recorded a high rate of "gene conversion events" within the palindromic sequences on the Y chromosome - this is basically a "copy and paste" process that allows damaged genes to be repaired using an undamaged back-up copy as a template.. Looking to other ...
Scientists in the US have published the results of their detailed scrutiny of the genetic sequence of the human Y chromosome. This DNA bundle - one of 24 distinct chromosomes found in human cells - holds the crucial information to make the male of our species. The work is part of the enormous job of following up the data that came out of the international Human Genome Project (HGP)…declared complete in April. Any attempt to make sense of the data inevitably involves large-scale computing effort, but, by any standards, annotating the Y chromosome was a huge task. Its one thing to generate the sequence and its another to go on to discover which bits are functional and what they can tell us about disease and evolution, explained Mark Ross, head of the Wellcome Trust Sanger Institutes project to analyse the X chromosome near Cambridge, UK. The Y chromosome contains a great many repeated sections of DNA and far fewer genes, letter for letter, than other chromosomes. Francis Collins, director of ...
Basically, a fertilized egg can contain a modified Y chromosome that is itself a palindrome," Page said. "That modified or isodicentric Y chromosome is so unpredictably stable or unstable that individuals who develop from such a fertilized egg range from a man with no sperm who is otherwise healthy to someone raised as a boy who is later found to have an ovary on one side to a girl or woman with Turner syndrome. These wildly different outcomes result from the very same starting point.". The key to an isodicentric Y chromosomes instability is its two centromeres, Page explained. Centromeres are critical for the proper segregation of chromosomes into two daughter cells at each cell division. "If there are two centromeres, the apparatus for partitioning chromosomes becomes very confused," he said. "A chromosome can get tugged in two directions at once." As a result, the chromosome has a tendency to get broken or lost each time cells divide. During the development of an embryo, cells divide ...
Genetic conflicts between sexes and generations provide a foundation for understanding the functional evolution of sex chromosomes and sexually dimorphic phenotypes. Y chromosomes of Drosophila contain multi-megabase stretches of satellite DNA repeats and a handful of protein-coding genes that are monomorphic within species. Nevertheless, polymorphic variation in heterochromatic Y chromosomes of Drosophila result in genome-wide gene expression variation. Here we show that such naturally occurring Y-linked regulatory variation (YRV) can be detected in somatic tissues and contributes to the epigenetic balance of heterochromatin/euchromatin at three distinct loci showing position-effect variegation (PEV). Moreover, polymorphic Y chromosomes differentially affect the expression of thousands of genes in XXY female genotypes in which Y-linked protein-coding genes are not transcribed. The data show a disproportionate influence of YRV on the variable expression of genes whose protein products localize ...
Your Y-chromosome results identify you as a member of haplogroup R1b.. The genetic markers that define your ancestral history reach back roughly 60,000 years to the first common marker of all non-African men, M168, and follow your lineage to present day ending with M343, the defining marker of Haplogroup R1b. If you look at the map highlighting your ancestors route, you will see that members of haplogroup R1b carry the following Y-chromosome markers:. M168 , P143 , M89 , L15 , M9 , M45 , M207 , M173 , M343. (Less is known about some markers than others. What is known about your journey is reflected below.). Today, roughly 70 percent of the men in southern England belong to haplogroup R1b. In parts of Spain and Ireland, that number exceeds 90 percent.. Whats a haplogroup, and why do geneticists concentrate on the Y chromosome in their search for markers? For that matter, whats a marker?. Each of us carries DNA that is a combination of genes passed from both our mother and father, giving us ...
Your Y-chromosome results identify you as a member of haplogroup R1b.. The genetic markers that define your ancestral history reach back roughly 60,000 years to the first common marker of all non-African men, M168, and follow your lineage to present day ending with M343, the defining marker of Haplogroup R1b. If you look at the map highlighting your ancestors route, you will see that members of haplogroup R1b carry the following Y-chromosome markers:. M168 , P143 , M89 , L15 , M9 , M45 , M207 , M173 , M343. (Less is known about some markers than others. What is known about your journey is reflected below.). Today, roughly 70 percent of the men in southern England belong to haplogroup R1b. In parts of Spain and Ireland, that number exceeds 90 percent.. Whats a haplogroup, and why do geneticists concentrate on the Y chromosome in their search for markers? For that matter, whats a marker?. Each of us carries DNA that is a combination of genes passed from both our mother and father, giving us ...
The chromosome Y sequence has the pseudoautosomal regions (PAR) hard masked. This practice is consistent with the 1000 Genome Consortiums decision to hard mask these regions in chromosome Y in order to prevent mis-mapping of reads and issues in variant calling on the gender chromosomes.. The masked Y pseudoautosomal regions are chrY:10001-2649520 and chrY:59034050-59363566. (A related file can be downloaded from ftp://ftp.ensembl.org/pub/release-56/fasta/homo_sapiens/dna/Homo_sapiens.GRCh37.56.dna.chromosome.Y.fa.gz.). The following background information is from the UCSC site http://genome.ucsc.edu/cgi-bin/hgGateway?org=human&db=hg19 The Y chromosome in this assembly contains two pseudoautosomal regions (PARs) that were taken from the corresponding regions in the X chromosome and are exact duplicates:. chrY:10001-2649520 and chrY:59034050-59363566? chrX:60001-2699520 and chrX:154931044-155260560. ...
Inferring chimpanzee Y chromosome history and amplicon diversity from whole genome sequencing Matthew Oetjens, Feichen Shen, Zhengting Zou, Jeffrey Kidd bioRxiv doi: http://dx.doi.org/10.1101/029702 Due to the lack of recombination, the male-specific region of the Y chromosome (MSY) is a unique resource for tracking the genetic history of populations. The MSY is also enriched for large,…
Abstract: Genetics can provide invaluable information on the ancestry of the current inhabitants of Cyprus. A Y-chromosome analysis was performed to (i) determine paternal ancestry among the Greek Cypriot (GCy) community in the context of the Central and Eastern Mediterranean and the Near East; and (ii) identify genetic similarities and differences between Greek Cypriots (GCy) and Turkish Cypriots (TCy). Our haplotype-based analysis has revealed that GCy and TCy patrilineages derive primarily from a single gene pool and show very close genetic affinity (low genetic differentiation) to Calabrian Italian and Lebanese patrilineages. In terms of more recent (past millennium) ancestry, as indicated by Y-haplotype sharing, GCy and TCy share much more haplotypes between them than with any surrounding population (7-8% of total haplotypes shared), while TCy also share around 3% of haplotypes with mainland Turks, and to a lesser extent with North Africans. In terms of Y-haplogroup frequencies, again GCy ...
Abstract: Genetics can provide invaluable information on the ancestry of the current inhabitants of Cyprus. A Y-chromosome analysis was performed to (i) determine paternal ancestry among the Greek Cypriot (GCy) community in the context of the Central and Eastern Mediterranean and the Near East; and (ii) identify genetic similarities and differences between Greek Cypriots (GCy) and Turkish Cypriots (TCy). Our haplotype-based analysis has revealed that GCy and TCy patrilineages derive primarily from a single gene pool and show very close genetic affinity (low genetic differentiation) to Calabrian Italian and Lebanese patrilineages. In terms of more recent (past millennium) ancestry, as indicated by Y-haplotype sharing, GCy and TCy share much more haplotypes between them than with any surrounding population (7-8% of total haplotypes shared), while TCy also share around 3% of haplotypes with mainland Turks, and to a lesser extent with North Africans. In terms of Y-haplogroup frequencies, again GCy ...
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A few dozen genes are known on the human Y chromosome. The completion of the human genome sequence will allow identification of the remaining loci, which should shed further light on the function and evolution of this peculiar chromosome.
(Phys.org) -University of Arizona geneticists have discovered the oldest known genetic branch of the human Y chromosome - the hereditary factor determining male sex.
The Y-STR DYS19 is firmly established in the repertoire of Y-chromosomal markers used in forensic analysis yet is poorly understood at the molecular level, lying in a complex genomic environment and exhibiting null alleles, as well as duplications and occasional triplications in population samples. Here, we analyse three null alleles and 51 duplications and show that DYS19 can also be involved in inversion events, so that even its location within the short arm of the Y chromosome is uncertain. Deletion mapping in the three chromosomes carrying null alleles shows that their deletions are less than ∼300 kb in size. Haplotypic analysis with binary markers shows that they belong to three different haplogroups and so represent independent events. In contrast, a collection of 51 DYS19 duplication chromosomes belong to only four haplogroups: two are singletons and may represent somatic mutation in lymphoblastoid cell lines, but two, in haplogroups G and C3c, represent founder lineages that have ...
Publications that describe the composition of the human Y-DNA haplogroup in different ethnic or linguistic groups and geographic regions provide no explicit explanation of the distribution of human paternal lineages in relation to specific ecological conditions. Our research attempts to address this topic for the Caucasus, a geographic region that encompasses a relatively small area but harbors high linguistic, ethnic, and Y-DNA haplogroup diversity. We genotyped 224 men that identified themselves as ethnic Georgian for 23 Y-chromosome short tandem-repeat markers and assigned them to their geographic places of origin. The genotyped data were supplemented with the published data on haplogroup composition and location of the other ethnic groups of the Caucasus. We used multivariate statistical methods to see if linguistics, climate, and landscape accounted for geographical differences in frequencies of the Y-DNA haplogroups G2, J2, R1b, J1, and R1a. The analysis showed significant associations of (1)
This idea is based on evaluations of modern X and Y sex chromosomes that evolutionists think resulted from an original common ancestral pair of identical chromosomes. They speculate that over long ages "genes have been lost from the Y chromosome in humans and other mammals….[but] essential Y genes are rescued by relocating to other chromosomes."3 This conclusion was largely based on a study by Jennifer Hughes and her team.The study used the assumption that "the mammalian X and Y chromosomes evolved from a single pair of autosomes [non-sex chromosomes]."4. A problem is, even assuming evolution occurred, we have no knowledge of the common ancestor of mammals, although several candidates have been proposed. One of the more recent is a "tiny, furry-tailed creature that evolved shortly after the dinosaurs disappeared."5 This 2013 conclusion was considered so radical that some mammalian experts called "for a reevaluation of the evolutionary story of placental mammals."5 If we cannot decide which ...
Ubiquitin-specific protease 9, Y-linked (USP9Y), is a protein encoded by the Y chromosome. Its precise function in the cell is unknown, although a role in the regulation of protein turnover has been postulated. Nonetheless, mutations in this gene could result in the over- or under-abundance of proteins involved in the regulation of spermatogenesis. We have identified a novel mutation, SM1, located in exon 25 of USP9Y (c.3642G→A), which results in an amino acid substitution (p.V1214I). The mutation is in close linkage (four bases distant) from a silent mutation, referred to as M222 (p.E1212E, c.3636G→A). In our male population (n = 374), SM1 was found in one individual (0.3%) who belongs to the recently described haplogroup R1b3h, defined by the U152 SNP. This new mutation is expected to represent a new haplogroup, (R1b1c10a); therefore, within our population of individuals from haplogroup R1b3h (R1b110) (n = 16), it has a frequency of 6.3% (95% CI: 2.7-9.9%). ...
This table shows all stocks in the Bloomington collection with a Y chromosome carrying a P{hs-hid} insertion.. Flies carrying this chromosome can be killed during development by high temperatures to produce female-only cultures. See Heat treatment method for P{hs-hid} stocks. See Dominant temperature-sensitive lethal stocks for P{hs-hid} insertions on other chromosomes.. Go back to the main special-purpose Y chromosome page ...
What is the difference between X and Y Chromosome? X chromosomes contain genes for female sex determination, but Y chromosome contain genes for male sex ..
Health,...Countering common belief study shows rapid genetic change in both hum...WEDNESDAY Jan. 13 (HealthDay News) -- The Y chromosome found only in...The new study challenges the widely held belief that the mammalian Y c...The Y chromosome is present in males (who have one Y and one X chromos...,Males,Y,Chromosome,Not,in,Decline,medicine,medical news today,latest medical news,medical newsletters,current medical news,latest medicine news
Because selective pressure to pass on advantageous sperm production genes is so high, those genes may also drag along detrimental genetic traits to the next generation. Such transmission is allowed to occur because, unlike other chromosomes, the Y has no partner with which to swap genes during cell division. Swapping genes between chromosomal partners can eventually associate positive gene versions with each other and eliminate detrimental gene versions. Without this ability, the Y chromosome is treated by evolution as one large entity. Either the entire chromosome is advantageous, or it is not ...
Stuart S. Howards, MD will serve as the AXYS treasurer. He is a professor emeritus at UVAs Medical School & a professor of urology at Wake Forest.
... : Genes, Leukemias, Solid Tumors, and Cancer-Prone Diseases located on Chromosome Y reviewed and published in the Atlas of Genetics and Cytogenetics in Oncology and Haematology
Radiolabeled reiterated DNA specific for the human Y chromosome has been obtained by extensive reassociations between [3H]DNA prepared from men and excess DNA from women. These highly purifed labeled sequences reassociate only with DNA from individuals with a Y chromosome. The percentage of Y-chromosome-specific DNA isolated from individuals with differing numbers of Y chromosomes is a function of the number of chromosomes present. The purifed Y-chromosome-specific sequences may represent between 7 and 11 percent of the human Y chromosome. ...
Abstract: Genetics can provide invaluable information on the ancestry of the current inhabitants of Cyprus. A Y-chromosome analysis was performed to (i) determine paternal ancestry among the Greek Cypriot (GCy) community in the context of the Central and Eastern Mediterranean and the Near East; and (ii) identify genetic similarities and differences between Greek Cypriots (GCy) and Turkish Cypriots (TCy). Our haplotype-based analysis has revealed that GCy and TCy patrilineages derive primarily from a single gene pool and show very close genetic affinity (low genetic differentiation) to Calabrian Italian and Lebanese patrilineages. In terms of more recent (past millennium) ancestry, as indicated by Y-haplotype sharing, GCy and TCy share much more haplotypes between them than with any surrounding population (7-8% of total haplotypes shared), while TCy also share around 3% of haplotypes with mainland Turks, and to a lesser extent with North Africans. In terms of Y-haplogroup frequencies, again GCy ...
The co-existence and associated genetic evidences for the major rival models: i) recent Central Asian introduction of Indian caste system, ii) rank related west Eurasian admixture, iii) South Asian origin for Indian caste communities, and iv) late Pleistocene heritage of tribal and caste populations, leave the question of the origin of caste system in India hazy and obscure. To resolve the issue, we screened 621 Y-chromosomes (of Brahmins, occupying upper most caste position and Dalits and Tribals with the lower most positions in the Indian caste hierarchical system) with fifty-five Y-chromosomal binary markers and Y-microsatellite markers and compiled a data set of 2809 Y-chromosomes (681 Brahmins, 2128 Tribals and Dalits) for conclusions. Overall, no consistent difference was observed in Y-haplogroups distribution between Brahmins, Dalits and Tribals, except for some differences confined to a given geographical region. A peculiar observation of highest frequency (upto 72.22%) of Y-haplogroups ...
DAZAP1 Full-Length MS Protein Standard (NP_061832), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript
Male mice are able to reproduce healthy offspring with only two Y-chromosome genes, researchers at the University of Hawaii have discovered.. Does this mean that the Y chromosome (or most of it) is no longer needed? Yes, given our current technological advances in assisted reproductive technologies, said Professor Monika Ward at the Institute for Biogenesis Research.. Ward and her colleagues produced transgenic mice that only had the Sry gene, critical in testes development, and the Eif2s3y gene, which is involved in the initial stages of sperm production, on their Y chromosomes.. These infertile mice then underwent an advanced form of IVF, called spermatid injection, where immature sperm cells are injected directly into the egg. They fathered pups that went on to have a normal lifespan and were capable of producing a second generation on their own without further assistance.. Professor Ward highlighted the importance of the Y chromosome for normal, unassisted fertilisation and other aspects ...
Since the mestizo identity promoted by the government is more of a cultural identity than a biological one it has achieved a strong influence in the country, with a good number of biologically white people identifying with it, leading to being considered mestizos in Mexicos demographic investigations and censuses due the ethnic criteria having its base on cultural traits rather than biological ones.[224] A similar situation occurs regarding the distinctions between indigenous peoples and mestizos: while the term mestizo is sometimes used in English with the meaning of a person with mixed indigenous and European blood, this usage does not conform to the Mexican social reality where a person of pure indigenous genetic heritage would be considered Mestizo either by rejecting his indigenous culture or by not speaking an indigenous language,[225] and a person with a very low percentage of indigenous genetic heritage would be considered fully indigenous either by speaking an indigenous language or by ...
How did the human Y chromosome become so small relative to its X counterpart? This animation depicts the 300-million-year odyssey of the sex chromosomes that began when the proto X and Y were an...
Infertility is a disease that affects approximately 10% of couples world-wide. Causes of infertility are varied and include age-related decline in fecundity, other causes of ovulatory dysfunction, tubal and pelvic pathology, male causes, idiopathic, and multifactorial. The underlying genetic causes of infertility are incompletely understood. The purpose of this study is to increase our understanding of the genetic and clinical manifestations of infertility related to Ychromosome differences through detailed physical, radiologic, and laboratory studies. We will concentrate on a group of patients (both male and female) with known Y-chromosome variations and infertility previously identified by our collaborator, Dr. David Page s lab. Patients recruited and consenting to this study will be evaluated at the NIH Clinical Center ...
"The DNA sequence of the human X chromosome". Nature. 434 (7031): 325-37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.. ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... 1997). "SSX: a multigene family with several members transcribed in normal testis and human cancer". Int. J. Cancer. 72 (6): ... Protein SSX4 is a protein that in humans is encoded by the SSX4 gene.[5] ...
Genes on human chromosome 18. Hidden categories: *Protein pages needing a picture ... Mucosa-associated lymphoid tissue lymphoma translocation protein 1 is a protein that in humans is encoded by the MALT1 gene.[5] ... 2g7r: X-ray structure of the death domain of the human mucosa associated lymphoid tissue lymphoma translocation protein 1 ... has been shown to be cut by paracaspase in Human and in mouse. Cells expressing an uncleavable A20 mutant is however still ...
"Chromosome abnormalities". Human Molecular Genetics (2nd ed.). New York: Wiley-Liss. ISBN 1-85996-202-5. PMID 21089233.. [page ... "Human Molecular Genetics (2nd ed.). New York: Wiley-Liss. ISBN 1-85996-202-5. PMID 21089233.. [page needed] ... called 46/47 XY/XXY mosaic wherein some of the patient's cells contain XY chromosomes, and some contain XXY chromosomes. The 46 ... "American Journal of Human Genetics. 90 (3): 426-433. doi:10.1016/j.ajhg.2012.01.004. PMC 3309184 . PMID 22341970.. ...
Chromosomes are tiny packages which contain one DNA molecule and its associated proteins. Humans have 46 chromosomes (23 pairs ... There are about 3.2 billion nucleotide pairs on all the human chromosomes: this is the human genome. The order of the ... Humans have two copies of each of their genes, and make copies that are found in eggs or sperm-but they only include one copy ... Chromosome. A package for carrying DNA in the cells. They contain a single long piece of DNA that is wound up and bunched ...
As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ... For example, Emmer wheat has the AABB chromosome sets (28 total chromosomes) from Triticum monococcum (AA, 14 chromosomes) and ... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ...
Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. ... In the wake of the establishment of the normal number of human chromosomes, 47,XYY was the last of the common sex chromosome ... This tall (that chromosome), intelligent (that chromosome again), functionally nonviolent (that chromosome still again) fellow ... ISBN 1-4051-9087-6. The addition of a Y chromosome to a normal male chromosome constitution does not produce a discernible ...
... the largest human chromosome, for example, is about 247 million base pairs in length.[50] The DNA of a chromosome is associated ... while the X chromosome is similar to the other chromosomes and contains many genes. The X and Y chromosomes form a strongly ... Many species have so-called sex chromosomes that determine the gender of each organism.[52] In humans and many other animals, ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ...
Degen SJ, Davie EW (1987). "Nucleotide sequence of the gene for human prothrombin". Biochemistry. 26 (19): 6165-77. doi:10.1021 ... SNPs on chromosome 11. *Coagulopathies. Hidden categories: *CS1: long volume value. *All articles lacking reliable references ...
Structural maintenance of chromosomes protein 1A (SMC1A) is a protein that in humans is encoded by the SMC1A gene.[5][6] SMC1A ... chromosome. • nucleoplasm. • condensed nuclear chromosome. • chromosome, centromeric region. • cell nucleus. • kinetochore. • ... chromosome condensation and chromosome segregation from bacteria to humans. [7] ... February 1995). "The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ... December 1993). "Human leukocyte antigen A1-B8-DR3-DQ2-DPB1*0401 extended haplotype in autoimmune hepatitis". Hepatology. 18 (6 ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene.[5] Presenilin-1 is one of the four ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ... A study of broad range gene expression was conducted on human malignant melanoma. Researchers classified the malignant melanoma ...
1999). "Assignment of human filamin gene FLNB to human chromosome band 3p14.3 and identification of YACs containing the ... Filamin B, beta (FLNB), also known as Filamin B, beta (actin binding protein 278), is a cytoplasmic protein which in humans is ... Takafuta, T; Wu G; Murphy G F; Shapiro S S (Jul 1998). "Human beta-filamin is a new protein that interacts with the cytoplasmic ... 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40-5. doi:10.1038/ ...
Genes on human chromosome 1. Hidden categories: *CS1 Chinese-language sources (zh) ... Fonatsch C, Latza U, Dürkop H, Rieder H, Stein H (Nov 1992). "Assignment of the human CD30 (Ki-1) gene to 1p36". Genomics. 14 ( ... Human TNFRSF8 genome location and TNFRSF8 gene details page in the UCSC Genome Browser. ... Schneider C, Hübinger G (Jul 2002). "Pleiotropic signal transduction mediated by human CD30: a member of the tumor necrosis ...
Genes on human chromosome X. Hidden categories: *Use dmy dates from July 2011 ...
C-jun-amino-terminal kinase-interacting protein 1 is an enzyme that in humans is encoded by the MAPK8IP1 gene.[5][6] ... 1999). "Genomic organization, fine-mapping, and expression of the human islet-brain 1 (IB1)/c-Jun -amino-terminal kinase ... "The Transcriptional Repressor REST Determines the Cell-Specific Expression of the Human MAPK8IP1 Gene Encoding IB1 (JIP-1)". ...
2odb: The crystal structure of human cdc42 in complex with the CRIB domain of human p21-activated kinase 6 (PAK6) ... "Human PubMed Reference:".. *^ Qadir MI, Parveen A, Ali M (October 2015). "Cdc42: Role in Cancer Management". Chemical Biology ... Human Cdc42 is a small GTPase of the Rho family, which regulates signaling pathways that control diverse cellular functions ... Human CDC42 genome location and CDC42 gene details page in the UCSC Genome Browser. ...
... maps to human chromosome 5 at band q21 and to mouse chromosome 17". Genomics. 35 (2): 376-9. doi:10.1006/geno.1996.0371. PMID ... Ephrin A5 is a protein that in humans is encoded by the EFNA5 gene.[5][6][7] ...
... on human chromosome 15 at q26) or VIPAS39 (on chromosome 14 at q34); the autosomal dominant disease of GFI1B-related syndrome ... The human GATA1 gene is located on the short (i.e. "p") arm of the X chromosome at position 11.23. It is 7.74 kilobases in ... In humans and mice, it is encoded by the GATA1 and Gata1 genes, respectively. These genes are located on the X chromosome in ... The syndrome is commonly considered to result solely from mutations in the NBEAL2 gene located on human chromosome 3 at ...
X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene.[5][6][7] ... "Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests". Proceedings of the ... "American Journal of Human Genetics. 61 (3): 571-80. doi:10.1086/515523. PMC 1715956. PMID 9326322.. ... "American Journal of Human Genetics. 61 (6): 1287-92. doi:10.1086/301646. PMC 1716085. PMID 9399904.. ...
"Localisation of the human gene encoding the cytoskeletal protein talin to chromosome 9p". Human Genetics. 96 (2): 221-4. doi: ... Talin-1 is a protein that in humans is encoded by the TLN1 gene.[5][6] Talin-1 is ubiquitously expressed, and is localized to ... Human talin-1 is 270.0 kDa molecular weight and 2541 amino acids.[7] The N-terminal region of talin-1 is ~50 kDa in size and ... "Protein sequence of human TLN1 (Uniprot ID: Q9Y490)". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Retrieved 7 July ...
Genes on human chromosome 5. Hidden categories: *CS1 maint: Multiple names: authors list ... Growth hormone receptor is a protein that in humans is encoded by the GHR gene.[5] GHR orthologs [6] have been identified in ... 3hhr: HUMAN GROWTH HORMONE AND EXTRACELLULAR DOMAIN OF ITS RECEPTOR: CRYSTAL STRUCTURE OF THE COMPLEX ... 1kf9: PHAGE DISPLAY DERIVED VARIANT OF HUMAN GROWTH HORMONE COMPLEXED WITH TWO COPIES OF THE EXTRACELLULAR DOMAIN OF ITS ...
SHC-transforming protein 1 is a protein that in humans is encoded by the SHC1 gene.[5] SHC has been found to be important in ... The gene SHC1 is located on chromosome 1 and encodes 3 main protein isoforms: p66SHC, p52SHC and p46SHC. These proteins differ ... "Variation in the SHC1 gene and longevity in humans". Experimental Gerontology. 39 (2): 263-8. doi:10.1016/j.exger.2003.10.001. ...
December 2002). "DOCK2 associates with CrkL and regulates Rac1 in human leukemia cell lines". Blood. 100 (12): 3968-74. doi: ... November 1999). "Non-adherent cell-specific expression of DOCK2, a member of the human CDM-family proteins". Biochim. Biophys. ... 2007). "DOCK2 is required for chemokine-promoted human T lymphocyte adhesion under shear stress mediated by the integrin ... "DOCK2 associates with CrkL and regulates Rac1 in human leukemia cell lines". Blood. 100 (12): 3968-74. doi:10.1182/blood-2001- ...
2001). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ... Destrin or DSTN (also known as actin depolymerizing factor or ADF) is a protein which in humans is encoded by the DSTN gene.[2] ... Human gene pages with Wikidata item. *Wikipedia articles incorporating text from the United States National Library of Medicine ... Hawkins M, Pope B, Maciver SK, Weeds AG (September 1993). "Human actin depolymerizing factor mediates a pH-sensitive ...
... cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1". ... Human ACADM genome location and ACADM gene details page in the UCSC Genome Browser. ... The ACADM gene is located on the short (p) arm of chromosome 1 at position 31, from base pair 75,902,302 to base pair ... Wang SS, Fernhoff PM, Hannon WH, Khoury MJ (1999). "Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology ...
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
A human artificial chromosome (HAC) is a microchromosome that can act as a new chromosome in a population of human cells. That ... 21HAC is based on a stripped copy of human chromosome 21, producing a chromosome 5 Mb in length. Truncation of chromosome 21 ... Yeast artificial chromosomes and bacterial artificial chromosomes were created before human artificial chromosomes, which first ... "A new chromosome 14-based human artificial chromosome (HAC) vector system for efficient transgene expression in human primary ...
Human artificial chromosomeMeasles Virus fusogenic proteinChimeric protein. Background. Microcell-mediated chromosome transfer ... Human artificial chromosome (HAC) vector with a conditional centromere for correction of genetic deficiencies in human cells. ... Human artificial chromosome (HAC) vector provides long-term therapeutic transgene expression in normal human primary ... Localization of an hTERT repressor region on human chromosome 3p21.3 using chromosome engineering. Genome Integr. 2010;1(1):6. ...
The explosion of information on human genetic diseases has meant that there is a greater need than ever for students, ... This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. ... This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. The ... "Each word "tells" in this concise gem of a human cytogenetics text...Superb organization makes this an excellent text...for any ...
10 SN: Real benefits of virtual therapy, monkey malaria in humans, round electrons disappoint, mouse pups with two dads, bats ...
3. Encourage students to invert a chimp chromosome and place it next to the corresponding human chromosome, alining their ... Human Evolution Patterns. SEE "Chromosome Connections: Compelling Clues to Common Ancestry". Article by Larry Flammer published ... CHROMOSOME FUSION. This is a logical extension of any chromosome comparison lab. Students test the hypothesis that our ... and less on the details of chromosome analysis, and also involves students in doing a chromosome by chromosome matching by ...
... chimp chromosome 2 and an extra chromosome that does not match any other human chromosome). Second, a chromosome normally has ... While great apes all have 48 chromosomes (24 pairs), humans have only 46 (23 pairs). If humans and apes shared a common ... First, the banding (or dye pattern) of human chromosome 2 closely matches that of two separate chromosomes found in apes ( ... it explains that humans have one fewer chromosome pair in their cells than apes, due to a mutation found in chromosome number 2 ...
Human chromosome 11 DNA sequence and analysis including novel gene identification. Free access. Todd D. Taylor et al. ... Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Christine Gicquel et al. ...
Mutational and functional analyses reveal that ST7 is a highly conserved tumor-suppressor gene on human chromosome 7q31. ... The DNA sequence of human chromosome 7. Hillier L. W. et al. ... HUMAN. A physical map of the human genome. The International ... Initial sequencing and analysis of the human genome. International Human Genome Sequencing Consortium ... Integration of telomere sequences with the draft human genome sequence. Riethman H. C. et al. ...
Human Genome Collection. Chromosome x. The X chromosome both unites and divides the sexes: everyone has it, but whereas men ... A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Brown, C.J. ... The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X Bentley, D. R. et al. ... The DNA sequence of the human X chromosome. Ross, M.T. et al. ... Characterization of the human factor VIII gene. Gitschier, J. ...
The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X. Free access. Bentley, D. R. et al. ... The DNA sequence and analysis of human chromosome 13. Free access. A Dunham et al. ... Initial sequencing and analysis of the human genome. Free access. International Human Genome Sequencing Consortium ...
Chromosome 5 allele loss in human colorectal carcinomas. Solomon, E. et al. ... The DNA sequence and comparative analysis of human chromosome 5. J. Schmutz et al. ... Journal home , Supplements , Collections , Human Genome , Chromosomes , Chromosome 5. Human Genome Collection. Human Genomics: ...
... human chromosome (en) 10. kromozom (tr); Chromosome 10 (human), Chromosome 10 (tl); chr10, kromosom 10 (nn); chr10 (nb); ... Media in category "Human chromosome 10". The following 30 files are in this category, out of 30 total. ... Human chromosome 10 with ASD genes from IJMS-16-06464.png 606 × 1,510; 183 KB. ... Human chromosome 10 from Gene Gateway - with label.png 1,439 × 1,654; 102 KB. ...
Media in category "Human chromosome 3". The following 32 files are in this category, out of 32 total. ... Human chromosome 03 with ASD genes from IJMS-16-06464.png 949 × 2,233; 498 KB. ... Human chromosome 03 from Gene Gateway - with label.png 1,302 × 1,919; 350 KB. ... 24-Color 3D FISH Representation and Classification of Chromosomes in a Human G0 Fibroblast Nucleus 10.1371 journal.pbio.0030157 ...
Media in category "Human chromosome 21". The following 28 files are in this category, out of 28 total. ... Human chromosome 21 with ASD genes from IJMS-16-06464.png 552 × 634; 81 KB. ... 24-Color 3D FISH Representation and Classification of Chromosomes in a Human G0 Fibroblast Nucleus 10.1371 journal.pbio.0030157 ... Human chromosome 21 - ideogram from NCBI Map viewer.png 320 × 2,040; 3 KB. ...
kromosom hos mennesket (da) Chromosome 17, Chromosome 17 (human) (tl); chr17, Homo sapiens chromosome 17 (en); chr17, kromosom ... Media in category "Human chromosome 17". The following 36 files are in this category, out of 36 total. ... Human chromosome 17 with ASD genes from IJMS-16-06464.png 645 × 1,068; 335 KB. ... Human chromosome 17 from Gene Gateway - with label.png 1,376 × 1,731; 309 KB. ...
Researchers have genetically engineered cows to produce human antibodies against the deadly hantavirus and possibly other ... Creating human antibodies in an animal model is no small feat. Scientists combined parts of human chromosome 14 and human ... Cows with human chromosomes enlisted to fight hantavirus. By David Shultz. Nov. 26, 2014 , 2:00 PM. ... The work is preliminary and needs to be tested in people, but the team calls it a "proof-of-concept" that human antibodies can ...
A study led by Indiana University is the first to reveal key similarities between chromosomes in humans and archaea. The work ... Key similarities discovered between human and archaea chromosomes Discovery from Indiana University could advance use of single ... The similar clustering of DNA in humans and archaeal chromosomes is significant because certain genes activate or deactivate ... "It looked just like what has been seen with human DNA.". The study is also the first to describe the protein used to assemble ...
... and human chromosome 2 represents a fusion of two acrocentric chromosomes present in chimpanzees (chromosomes 12 and 13) and ... Remarkably, the KA/KS ratios are also 1.41 times greater for rearranged chromosomes than for colinear chromosomes in humans ( ... Of 89 chromosomes with KA/KS ratios ≤1, 39 (43.8%) are on rearranged chromosomes, and 50 are on colinear chromosomes. The ... Table 6 shows that genes in rearranged chromosomes 4, 5, and 9, as well as in colinear chromosome 22, have human expression ...
structural maintenance of chromosomes protein 4. Names. SMC protein 4. SMC4 structural maintenance of chromosomes 4-like 1. ... SMC4 structural maintenance of chromosomes 4 [ Homo sapiens (human) ] Gene ID: 10051, updated on 10-May-2020 ... Title: Structural Basis for Dimer Formation of Human Condensin Structural Maintenance of Chromosome Proteins and Its ... Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- ...
A jewellery collection created from the shape of human chromosomes. 3D prints made from microscopy data. ... Louise Hughes is raising funds for Human Chromosome Jewellery Collection on Kickstarter! ... One of these pairs forms the chromosomes that determine our sex, the X and Y chromosomes. Two x chromosomes, XX, gives rise to ... Karyotype 1 has the chromosomes arranged with two xx chromosomes and one y chromosome in the middle, followed by all the other ...
... evolutionists claim that two chimp chromosomes fused to become one, but the power of the evolutionary paradigm trumps other ... "Because the fused chromosome is unique to humans and is fixed, the fusion must have occurred after the human-chimpanzee split, ... Humans have 23 chromosome pairs, as we inherit 23 chromosomes from our father and 23 from our mother. Chimps inherit 24 ... The whole idea that two chromosomes from a primate ancestor fused together to form the single human chromosome; falls down when ...
Researchers describe a new way to form an essential part of the artificial chromosome, called the centromere, by bypassing the ... Human artificial chromosome (HAC, green) with two sister centromeres (red), similar to that of the natural host chromosomes ( ... Without it, whole chromosomes can be lost during cell division. For cell replication to occur, human centromeres are not simply ... Penn biochemists streamline construction method for human artificial chromosomes Bypassing the Need for DNA from the centromere ...
Study of Chromosomes in Human Leukaemia by a Direct Method Br Med J 1961; 2 :1052 ... Study of Chromosomes in Human Leukaemia by a Direct Method. Br Med J 1961; 2 doi: https://doi.org/10.1136/bmj.2.5259.1052 ( ...
Chromosome 21 is the smallest human autosome. An extra copy of chromosome 21 causes Down syndrome, the most frequent genetic ... The DNA sequence of human chromosome 21.. Hattori M1, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, ... Here we report the sequence and gene catalogue of the long arm of chromosome 21. We have sequenced 33,546,361 base pairs (bp) ... Analysis of the chromosome revealed 127 known genes, 98 predicted genes and 59 pseudogenes. ...
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. ...
  • This is accomplished by truncating the natural chromosome, followed by the introduction of unique genetic material via the Cre-Lox system of recombination. (wikipedia.org)
  • Application of Measles Virus (MV) fusogenic proteins to MMCT instead of polyethylene glycol (PEG) has partly solved this drawback, whereas the tropism of MV fusogenic proteins is restricted to human CD46- or SLAM-positive cells. (biomedcentral.com)
  • Efficacy of chimeric fusogenic proteins was evaluated by the evidence that the HAC, tagged with a drug-resistant gene and an EGFP gene, was transferred from CHO donor cells into human fibroblasts. (biomedcentral.com)
  • 21HAC was also able to be transferred into cells from a variety of species (mice, chickens, humans). (wikipedia.org)
  • However, the method of introduction of HACs into target cells is confined to microcell-mediated chromosome transfer (MMCT), which is less efficient than other methods of vector introduction. (biomedcentral.com)
  • It was demonstrated that higher efficiency of microcell fusion was achieved in some human cells by means of microcells which expressed MV-derived fusion machinery, both the hemagglutinin (H) protein and fusion (F) protein, as compared to PEG-induced fusion. (biomedcentral.com)
  • That is, instead of 46 chromosomes, the cell could have 47 with the 47th being very small, roughly 6-10 megabases (Mb) in size instead of 50-250 Mb for natural chromosomes, and able to carry new genes introduced by human researchers. (wikipedia.org)
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