The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Any method used for determining the location of and relative distances between genes on a chromosome.
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.
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)
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.
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.
Actual loss of portion of a chromosome.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Genes that are located on the Y CHROMOSOME.
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.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
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.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Mapping of the KARYOTYPE of a cell.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.
The alignment of CHROMOSOMES at homologous sequences.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Proteins found in SEMEN. Major seminal plasma proteins are secretory proteins from the male sex accessory glands, such as the SEMINAL VESICLES and the PROSTATE. They include the seminal vesicle-specific antigen, an ejaculate clotting protein; and the PROSTATE-SPECIFIC ANTIGEN, a protease and an esterase.
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.
A plant genus of the family CARYOPHYLLACEAE. The common name of campion is also used with LYCHNIS. The common name of 'pink' can be confused with other plants.
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.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A condition of having no sperm present in the ejaculate (SEMEN).
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Validation of the SEX of an individual by inspection of the GONADS and/or by genetic tests.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
The mechanisms by which the SEX of an individual's GONADS are fixed.
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.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Structures within the CELL NUCLEUS of insect cells containing DNA.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Aberrant chromosomes with no ends, i.e., circular.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
The 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.
An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
A 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.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
The total genetic information possessed by the reproductive members of a POPULATION of sexually reproducing organisms.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
The 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.
Genotypic differences observed among individuals in a population.
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.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.
The process of germ cell development in the male from the primordial germ cells, through SPERMATOGONIA; SPERMATOCYTES; SPERMATIDS; to the mature haploid SPERMATOZOA.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
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.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
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).
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.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
The relationships of groups of organisms as reflected by their genetic makeup.
Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
Any 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.
Structures which are contained in or part of CHROMOSOMES.
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.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
The 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.
In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
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.
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.
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).
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
A 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.
Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.
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.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
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)
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)
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
The 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.
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.
Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.
The 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.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
The process of leaving one's country to establish residence in a foreign country.
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
The possession of a third chromosome of any one type in an otherwise diploid cell.
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.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
The 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.
An aberration in which an extra chromosome or a chromosomal segment is made.
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
A complex neoplasm composed of a mixture of gonadal elements, such as large primordial GERM CELLS, immature SERTOLI CELLS or GRANULOSA CELLS of the sex cord, and gonadal stromal cells. Gonadoblastomas are most often associated with gonadal dysgenesis, 46, XY.
Genes that are located on the X CHROMOSOME.
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)
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.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
A region, north-central Asia, largely in Russia. It extends from the Ural Mountains to the Pacific Ocean and from the Arctic Ocean to central Kazakhstan and the borders of China and Mongolia.
A plant genus of the family Caricaceae, order Violales, subclass Dilleniidae, class Magnoliopsida. It is the source of edible fruit and PAPAIN.
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.
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).
Mature male germ cells derived from SPERMATIDS. As spermatids move toward the lumen of the SEMINIFEROUS TUBULES, they undergo extensive structural changes including the loss of cytoplasm, condensation of CHROMATIN into the SPERM HEAD, formation of the ACROSOME cap, the SPERM MIDPIECE and the SPERM TAIL that provides motility.
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.
Abnormal genetic constitution in males characterized by an extra Y chromosome.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
The collective name for the islands of the central Pacific Ocean, including the Austral Islands, Cook Islands, Easter Island, HAWAII; NEW ZEALAND; Phoenix Islands, PITCAIRN ISLAND; SAMOA; TONGA; Tuamotu Archipelago, Wake Island, and Wallis and Futuna Islands. Polynesians are of the Caucasoid race, but many are of mixed origin. Polynesia is from the Greek poly, many + nesos, island, with reference to the many islands in the group. (From Webster's New Geographical Dictionary, 1988, p966 & Room, Brewer's Dictionary of Names, 1992, p426)
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
A 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.
Genes bearing close resemblance to known genes at different loci, but rendered non-functional by additions or deletions in structure that prevent normal transcription or translation. When lacking introns and containing a poly-A segment near the downstream end (as a result of reverse copying from processed nuclear RNA into double-stranded DNA), they are called processed genes.
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.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
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.
A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.
A small aquatic oviparous mammal of the order Monotremata found in Australia and Tasmania.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.
The portion of chromosome material that remains condensed and is transcriptionally inactive during INTERPHASE.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
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.
The science dealing with the earth and its life, especially the description of land, sea, and air and the distribution of plant and animal life, including humanity and human industries with reference to the mutual relations of these elements. (From Webster, 3d ed)
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
The capacity to conceive or to induce conception. It may refer to either the male or female.
The functional hereditary units of INSECTS.
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.
A plant genus of the family POLYGONACEAE that contains patientosides and other naphthalene glycosides.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
The number of males per 100 females.
Individual members of South American ethnic groups with historic ancestral origins in Asia.
DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
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.
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.
The religion of the Jews characterized by belief in one God and in the mission of the Jews to teach the Fatherhood of God as revealed in the Hebrew Scriptures. (Webster, 3d ed)
A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.
Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.
The process in developing sex- or gender-specific tissue, organ, or function after SEX DETERMINATION PROCESSES have set the sex of the GONADS. Major areas of sex differentiation occur in the reproductive tract (GENITALIA) and the brain.
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.
A sex-specific cell surface antigen produced by the sex-determining gene of the Y chromosome in mammals. It causes syngeneic grafts from males to females to be rejected and interacts with somatic elements of the embryologic undifferentiated gonad to produce testicular organogenesis.
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.
A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.
A family of the order Rodentia containing 250 genera including the two genera Mus (MICE) and Rattus (RATS), from which the laboratory inbred strains are developed. The fifteen subfamilies are SIGMODONTINAE (New World mice and rats), CRICETINAE, Spalacinae, Myospalacinae, Lophiomyinae, ARVICOLINAE, Platacanthomyinae, Nesomyinae, Otomyinae, Rhizomyinae, GERBILLINAE, Dendromurinae, Cricetomyinae, MURINAE (Old World mice and rats), and Hydromyinae.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
Genetic mechanisms that allow GENES to be expressed at a similar level irrespective of their GENE DOSAGE. This term is usually used in discussing genes that lie on the SEX CHROMOSOMES. Because the sex chromosomes are only partially homologous, there is a different copy number, i.e., dosage, of these genes in males vs. females. In DROSOPHILA, dosage compensation is accomplished by hypertranscription of genes located on the X CHROMOSOME. In mammals, dosage compensation of X chromosome genes is accomplished by random X CHROMOSOME INACTIVATION of one of the two X chromosomes in the female.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
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.
An individual having different alleles at one or more loci regarding a specific character.
Genetic loci associated with a QUANTITATIVE TRAIT.
The common chimpanzee, a species of the genus Pan, family HOMINIDAE. It lives in Africa, primarily in the tropical rainforests. There are a number of recognized subspecies.
The collective name for the islands of the Pacific Ocean northeast of Australia, including NEW CALEDONIA; VANUATU; New Hebrides, Solomon Islands, Admiralty Islands, Bismarck Archipelago, FIJI, etc. Melanesia (from the Greek melas, black + nesos, island) is so called from the black color of the natives who are generally considered to be descended originally from the Negroid Papuans and the Polynesians or Malays. (From Webster's New Geographical Dictionary, 1988, p748 & Room, Brewer's Dictionary of Names, 1992, p344)
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The only genus in the family Oryziinae, order BELONIFORMES. Oryzias are egg-layers; other fish of the same order are livebearers. Oryzias are used extensively in testing carcinogens.
The geographical area of Africa comprising ALGERIA; EGYPT; LIBYA; MOROCCO; and TUNISIA. It includes also the vast deserts and oases of the Sahara. It is often referred to as North Africa, French-speaking Africa, or the Maghreb. (From Webster's New Geographical Dictionary, 1988, p856)
Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.
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.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Male germ cells derived from the haploid secondary SPERMATOCYTES. Without further division, spermatids undergo structural changes and give rise to SPERMATOZOA.
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.

Mitotic recombination in the heterochromatin of the sex chromosomes of Drosophila melanogaster. (1/1444)

The frequency of spontaneous and X-ray-induced mitotic recombination involving the Y chromosome has been studied in individuals with a marked Y chromosome arm and different XY compound chromosomes. The genotypes used include X chromosomes with different amounts of X heterochromatin and either or both arms of the Y chromosome attached to either side of the centromere. Individuals with two Y chromosomes have also been studied. The results show that the bulk of mitotic recombination takes place between homologous regions.  (+info)

Germ cell development in the XXY mouse: evidence that X chromosome reactivation is independent of sexual differentiation. (2/1444)

Prior to entry into meiosis, XX germ cells in the fetal ovary undergo X chromosome reactivation. The signal for reactivation is thought to emanate from the genital ridge, but it is unclear whether it is specific to the developing ovary. To determine whether the signals are present in the developing testis as well as the ovary, we examined the expression of X-linked genes in germ cells from XXY male mice. To facilitate this analysis, we generated XXY and XX fetuses carrying X chromosomes that were differentially marked and subject to nonrandom inactivation. This pattern of nonrandom inactivation was maintained in somatic cells but, in XX as well as XXY fetuses, both parental alleles were expressed in germ cell-enriched cell populations. Because testis differentiation is temporally and morphologically normal in the XXY testis and because all germ cells embark upon a male pathway of development, these results provide compelling evidence that X chromosome reactivation in fetal germ cells is independent of the somatic events of sexual differentiation. Proper X chromosome dosage is essential for the normal fertility of male mammals, and abnormalities in germ cell development are apparent in the XXY testis within several days of X reactivation. Studies of exceptional germ cells that survive in the postnatal XXY testis demonstrated that surviving germ cells are exclusively XY and result from rare nondisjunctional events that give rise to clones of XY cells.  (+info)

Sexual dimorphism in white campion: complex control of carpel number is revealed by y chromosome deletions. (3/1444)

Sexual dimorphism in the dioecious plant white campion (Silene latifolia = Melandrium album) is under the control of two main regions on the Y chromosome. One such region, encoding the gynoecium-suppressing function (GSF), is responsible for the arrest of carpel initiation in male flowers. To generate chromosomal deletions, we used pollen irradiation in male plants to produce hermaphroditic mutants (bsx mutants) in which carpel development was restored. The mutants resulted from alterations in at least two GSF chromosomal regions, one autosomal and one located on the distal half of the (p)-arm of the Y chromosome. The two mutations affected carpel development independently, each mutation showing incomplete penetrance and variegation, albeit at significantly different levels. During successive meiotic generations, a progressive increase in penetrance and a reduction in variegation levels were observed and quantified at the level of the Y-linked GSF (GSF-Y). Possible mechanisms are proposed to explain the behavior of the bsx mutations: epigenetic regulation or/and second-site mutation of modifier genes. In addition, studies on the inheritance of the hermaphroditic trait showed that, unlike wild-type Y chromosomes, deleted Y chromosomes can be transmitted through both the male and the female lines. Altogether, these findings bring experimental support, on the one hand, to the existence on the Y chromosome of genic meiotic drive function(s) and, on the other hand, to models that consider that dioecy evolved through multiple mutation events. As such, the GSF is actually a system containing more than one locus and whose primary component is located on the Y chromosome.  (+info)

Sexual dimorphism in white campion: deletion on the Y chromosome results in a floral asexual phenotype. (4/1444)

White campion is a dioecious plant with heteromorphic X and Y sex chromosomes. In male plants, a filamentous structure replaces the pistil, while in female plants the stamens degenerate early in flower development. Asexual (asx) mutants, cumulating the two developmental defects that characterize the sexual dimorphism in this species, were produced by gamma ray irradiation of pollen and screening in the M1 generation. The mutants harbor a novel type of mutation affecting an early function in sporogenous/parietal cell differentiation within the anther. The function is called stamen-promoting function (SPF). The mutants are shown to result from interstitial deletions on the Y chromosome. We present evidence that such deletions tentatively cover the central domain on the (p)-arm of the Y chromosome (Y2 region). By comparing stamen development in wild-type female and asx mutant flowers we show that they share the same block in anther development, which results in the production of vestigial anthers. The data suggest that the SPF, a key function(s) controlling the sporogenous/parietal specialization in premeiotic anthers, is genuinely missing in females (XX constitution). We argue that this is the earliest function in the male program that is Y-linked and is likely responsible for "male dimorphism" (sexual dimorphism in the third floral whorl) in white campion. More generally, the reported results improve our knowledge of the structural and functional organization of the Y chromosome and favor the view that sex determination in this species results primarily from a trigger signal on the Y chromosome (Y1 region) that suppresses female development. The default state is therefore the ancestral hermaphroditic state.  (+info)

Y chromosome and male infertility. (5/1444)

Recent genome analysis of the Y chromosome has increased the number of genes found on this chromosome markedly. Many of these genes in the part of the Y chromosome that does not undergo recombination with the X chromosome are members of gene families. Evolutionary considerations imply that genes on the Y chromosome will degenerate unless they have male advantageous or female deleterious functions. Spermatogenesis is an example of a male advantageous function and genes in three regions of the human Y chromosome have been promoted as candidate male fertility factors.  (+info)

Ancestral Asian source(s) of new world Y-chromosome founder haplotypes. (6/1444)

Haplotypes constructed from Y-chromosome markers were used to trace the origins of Native Americans. Our sample consisted of 2,198 males from 60 global populations, including 19 Native American and 15 indigenous North Asian groups. A set of 12 biallelic polymorphisms gave rise to 14 unique Y-chromosome haplotypes that were unevenly distributed among the populations. Combining multiallelic variation at two Y-linked microsatellites (DYS19 and DXYS156Y) with the unique haplotypes results in a total of 95 combination haplotypes. Contra previous findings based on Y- chromosome data, our new results suggest the possibility of more than one Native American paternal founder haplotype. We postulate that, of the nine unique haplotypes found in Native Americans, haplotypes 1C and 1F are the best candidates for major New World founder haplotypes, whereas haplotypes 1B, 1I, and 1U may either be founder haplotypes and/or have arrived in the New World via recent admixture. Two of the other four haplotypes (YAP+ haplotypes 4 and 5) are probably present because of post-Columbian admixture, whereas haplotype 1G may have originated in the New World, and the Old World source of the final New World haplotype (1D) remains unresolved. The contrasting distribution patterns of the two major candidate founder haplotypes in Asia and the New World, as well as the results of a nested cladistic analysis, suggest the possibility of more than one paternal migration from the general region of Lake Baikal to the Americas.  (+info)

Long-term fetal microchimerism in peripheral blood mononuclear cell subsets in healthy women and women with scleroderma. (7/1444)

Fetal CD34(+) CD38(+) cells have recently been found to persist in maternal peripheral blood for many years after pregnancy. CD34(+) CD38(+) cells are progenitor cells that can differentiate into mature immune-competent cells. We asked whether long-term fetal microchimerism occurs in T lymphocyte, B lymphocyte, monocyte, and natural-killer cell populations of previously pregnant women. We targeted women with sons and used polymerase chain reaction for a Y-chromosome-specific sequence to test DNA extracted from peripheral blood mononuclear cells (PBMC) and from CD3, CD19, CD14, and CD56/16 sorted subsets. We also asked whether persistent microchimerism might contribute to subsequent autoimmune disease in the mother and included women with the autoimmune disease scleroderma. Scleroderma has a peak incidence in women after childbearing years and has clinical similarities to chronic graft-versus-host disease that occurs after allogeneic hematopoietic stem-cell transplantation, known to involve chimerism. Sixty-eight parous women were studied for male DNA in PBMC and 20 for PBMC subsets. Microchimerism was found in PBMC from 33% (16 of 48) of healthy women and 60% (12 of 20) women with scleroderma, P =.046. Microchimerism was found in some women in CD3, CD19, CD14, and CD56/16 subsets including up to 38 years after pregnancy. Microchimerism in PBMC subsets was not appreciably more frequent in scleroderma patients than in healthy controls. Overall, microchimerism was found in CD3, CD19, and CD14 subsets in approximately one third of women and in CD56/16 in one half of women. HLA typing of mothers and sons indicated that HLA compatibility was not a requirement for persistent microchimerism in PBMC subsets. Fetal microchimerism in the face of HLA disparity implies that specific maternal immunoregulatory pathways exist that permit persistence but prevent effector function of these cells in normal women. Although microchimerism in PBMC was more frequent in women with scleroderma than healthy controls additional studies will be necessary to determine whether microchimerism plays a role in the pathogenesis of this or other autoimmune diseases.  (+info)

Preimplantation diagnosis by fluorescence in situ hybridization using 13-, 16-, 18-, 21-, 22-, X-, and Y-chromosome probes. (8/1444)

PURPOSE: Our purpose was to select the proper chromosomes for preimplantation diagnosis based on aneuploidy distribution in abortuses and to carry out a feasibility study of preimplantation diagnosis for embryos using multiple-probe fluorescence in situ hybridization (FISH) on the selected chromosomes of biopsied blastomeres. METHODS: After determining the frequency distribution of aneuploidy found in abortuses, seven chromosomes were selected for FISH probes. Blastomeres were obtained from 33 abnormal or excess embryos. The chromosome complements of both the biopsied blastomeres and the remaining sibling blastomeres in each embryo were determined by FISH and compared to evaluate their preimplantation diagnostic potential. RESULTS: Chromosomes (16, 22, X, Y) and (13, 18, 21) were selected on the basis of the high aneuploid prevalence in abortuses for the former group and the presence of trisomy in the newborn for the latter. Thirty-six (72%) of 50 blastomeres gave signals to permit a diagnosis. Diagnoses made from biopsied blastomeres were consistent with the diagnoses made from the remaining sibling blastomeres in 18 embryos. In only 2 of 20 cases did the biopsied blastomere diagnosis and the embryo diagnosis not match. CONCLUSIONS: If FISH of biopsied blastomere was successful, a preimplantation diagnosis could be made with 10% error. When a combination of chromosome-13, -16, -18, -21, -22, -X, and -Y probes was used, up to 65% of the embryos destined to be aborted could be detected.  (+info)

Anyone know of a RAT Y CHROMOSOME specific probe? Thanks in advance Abizar www.innogenex.com , -----Original Message----- , From: Angeline Martin-Studdard [mailto:[email protected]] , Sent: Monday, January 22, 2001 4:57 AM , To: [email protected] , Subject: mouse Y chromosome probe , , , Hi Dina, , , Ive been utilizing a mouse Y chromosome paint probe from Applied , Genetics (#BMPOY). I tested it on cell drop slides initially and , currently use it on paraffin embedded mouse brain tissue. Ive , only tested a few different fixation methods so far but hope to , make more progress with that in the near future. It works well , and Ive found I can get away with quite a bit less probe than , recommended. , , Let me know if you would like any more information. , Angeline , , Medical College of Georgia , Neurology , 1459 Laney-Walker Blvd , Augusta, GA 30912 , [email protected] , , , ,Date: 19 Jan 2001 15:21:31 -0600 , ,From: [email protected] , ,Subject: mouse Y chromosome ...
TY - JOUR. T1 - Human Y-chromosome-specific reiterated DNA. AU - Kunkel, Louis M.. AU - Smith, Kirby D.. AU - Boyer, Samuel H.. PY - 1976/1/1. Y1 - 1976/1/1. N2 - Radiolabeled reiterated DNA specific for the human Y chromosome has been obtained by extensive reassociations between [3H]DNA prepared from men and excess DNA from women. These highly purified labeled sequences reassociate only with DNA from individuals with a Y chromosome. The percentage of Y-chromosome-specific DNA isolated from individuals with differing numbers of Y chromosomes is a function of the number of Y chromosomes present. The purified Y-chromosome-specific sequences may represent between 7 and 11 percent of the human Y chromosome.. AB - Radiolabeled reiterated DNA specific for the human Y chromosome has been obtained by extensive reassociations between [3H]DNA prepared from men and excess DNA from women. These highly purified labeled sequences reassociate only with DNA from individuals with a Y chromosome. The percentage ...
Over the 180 My since their origin, the sex chromosomes of mammals have evolved a gene repertoire highly specialized for function in the male germline. The mouse Y chromosome is unique among mammalian Y chromosomes characterized to date in that it is large, gene-rich and euchromatic. Yet, little is …
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. ...
Silene latifolia has heteromorphic sex chromosomes, the X and Y chromosomes. The Y chromosome, which is thought to carry the male determining gene, was isolated by UV laser microdissection and amplified by degenerate oligonucleotide-primed PCR. In situ chromosome suppression of the amplified Y chromosome DNA in the presence of female genomic DNA as a competitor showed that the microdissected Y chromosome DNA did not specifically hybridize to the Y chromosome, but hybridized to all chromosomes. This result suggests that the Y chromosome does not contain Y chromosome-enriched repetitive sequences. A repetitive sequence in the microdissected Y chromosome, RMY1, was isolated while screening repetitive sequences in the amplified Y chromosome. Part of the nucleotide sequence shared a similarity to that of X-43.1, which was isolated from microdissected X chromosomes. Since fluorescence in situ hybridization analysis with RMY1 demonstrated that RMY1 was localized at the ends of the chromosome, RMY1 may ...
The human Y chromosome is a male-specific sex chromosome. Nearly all humans who possess a Y chromosome will be morphologically male. Although the Y chromosome is situated in the cell nucleus, it only recombines with the X-chromosome at the ends of the Y chromosome; the vast majority of the Y chromosome (95%) does not recombine. When mutations (errors in the copying process) arise in the Y chromosome in the form of single-nucleotide polymorphisms) or short tandem repeats, they are passed down directly from father to son in a direct male line of descent. This line is known as the patriline. The Genome Reference Consortium maintains the reference assembly of the human genome. The GRC tracks issues relating to the Y chromosome such as gaps and errors in the sequence. Details can be found here. The GRCh37 build of the Y chromosome has a length of 59,373,566 base-pairs, but only 25,653,566 base-pairs are actually positioned. Build 38 (GRCh38) was released on 24 December 2013.[1] ...
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 ...
Compared with the X chromosome, the mammalian Y chromosome is considerably diminished in size and has lost most of its ancestral genes during evolution. Interestingly, for the X-degenerate region on...
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 ...
PLENARY PRESENTATION TUESDAY OCTOBER 19 2.00pm - 2.30pm SEQUENCE OF THE MOUSE Y CHROMOSOME Alfoldi JE1, Skaletsky H1, Graves T2, Minx P2, Wilson RK2, Rozen S1, Page DC1 1 Howard Hughes Medical Institute, Whitehead Institute, and Department of Biology, Massachusetts Institute of Technology, Cambridge, United States, 2 Genome Sequencing Center, Washington University School of Medicine, St. Louis, United States Y chromosomes have no partner with which to cross-over during meiosis, and so were once thought to be doomed to degeneration and gene loss. However, the recent discovery of palindromes on the human Y chromosome has given us hope of the continued survival of Y genes, since palindromes could be protecting their genes by gene conversion. The sequencing of the mouse Y chromosome was begun with the hope that it too has palindromes, and that these palindromes could be studied more easily in a more tractable organism. Now that some mouse Y sequence has been produced, we can see that this chromosome ...
Comparisons of Y-chromosome sequences in various mammals reveal abundant gene loss early in the chromosomes evolution but remarkable gene stability across the Y chromosomes of extant species. See Articles p.488 & p.494 Mammalian Y chromosomes, known for their roles in sex determination and male fertility, often contain repetitive sequences that make them harder to assemble than the rest of the genome. To counter this problem Henrik Kaessmann and colleagues have developed a new transcript assembly approach based on male-specific RNA/genomic sequencing data to explore Y evolution across 15 species representing all major mammalian lineages. They find evidence for two independent sex chromosome originations in mammals and one in birds. Their analysis of the Y/W gene repertoires suggests that although some genes evolved novel functions in sex determination/spermatogenesis as a result of temporal
Researcher(s): William J. Murphy, PhD Breed(s): All (non-specified). Abstract:. Studies of the human and mouse Y chromosomes have shown that they contain many testis specific genes that, when defective, cause infertility and spermatogenesis defects. The causes of male infertility in dogs are not well known. Though much is now known about genes on the dog autosomes and X chromosome, owing to the canine genome sequence, virtually nothing is known about the canine Y chromosome and the genes it harbors. This study will exhaustively characterize the gene content of the dog Y chromosome by sequencing from a cDNA selection library that is enriched for Y chromosome gene transcripts. This procedure will isolate the majority of canine Y chromosome genes and the DNA fragments they reside on, which will be mapped in the dog genome. The copy number and expression profile of these genes will be determined in a broad range of tissues to discern which genes have testis-specific expression patterns, and may ...
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 ...
A group of researchers from the University of California, Berkeley discovered that in mammals, males are XY and tend to live shorter lives than XX females. This is due to the Y chromosome as its genetic elements tend to jump around causing mutations. The Y chromosome densely packs DNA, called heterochromatin, keeps these elements in check. It is the heterochromatin when it deteriorates as organism age. This eventually plays a role in how long individuals live. As compared to females the heterochromatin in the genome stayed steady as compared to males this densely packed DNA was greatly reduced. The team, later on, created flies with abnormal numbers of Y chromosomes, and as a result, the females carrying the Y chromosomes and males with an extra Y did not live as long their wild types equivalents. Similar genetics elements were seen in these flies as in selfish, the males with no Y chromosome lived a lot longer than normal XY males. Drosophila aging is an attractive topic that is drawing many ...
Definition of Y chromosome in the Financial Dictionary - by Free online English dictionary and encyclopedia. What is Y chromosome? Meaning of Y chromosome as a finance term. What does Y chromosome mean in finance?
Y chromosomes control essential male functions in many species, including sex determination and fertility. However, because of obstacles posed by repeat-rich heterochromatin, knowledge of Y chromosome sequences is limited to a handful of model organisms, constraining our understanding of Y biology across the tree of life. Here, we leverage long single-molecule sequencing to determine the content and structure of the nonrecombining Y chromosome of the primary African malaria mosquito, Anopheles gambiae We find that the An. gambiae Y consists almost entirely of a few massively amplified, tandemly arrayed repeats, some of which can recombine with similar repeats on the X chromosome. Sex-specific genome resequencing in a recent species radiation, the An. gambiae complex, revealed rapid sequence turnover within An. gambiae and among species. Exploiting 52 sex-specific An. gambiae RNA-Seq datasets representing all developmental stages, we identified a small repertoire of Y-linked genes that lack X ...
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. ...
A Y chromosome represents about 2% of the human genome and is paternally inherited with low mutation rate. The Y chromosome STR test looks at the markers on a Y chromosome and compares them with other Y chromosome markers. Using this test we can determine paternal lineage of a male individual or determine the biological relationship between other male individuals. ...
History and description of Haplogroup T (Y-chromosomal DNA) and its subclades. Haplogroup T is an old Middle Eastern and East African lineage. It was found among ancient Babylonians, Phoenicians, Greeks and Romans.
Only males have a Y chromosome, which is always inherited from their father. There are very few genes on the Y chromosome, but a crucial gene involved in determining biological sex - SRY - is found on this chromosome and not the X chromosome. It is possible for individuals to only have a single X chromosome - these individuals are biologically female as they lack the Y chromosome and the SRY gene that determines biological maleness. It is not possible for individuals to only have a Y chromosome as the X chromosome is essential to life and development. ...
Male relatives can confirm their biological relationship by doing a Y chromosome test. The Y chromosome is only found in males and is a sex determining chromosome. If two males share the same Y chromosome it means that they also have the same paternal lineage. Testing the Y chromosome can be done for the following […]
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 ...
In order to understand the intricacies of X and Y chromosome evolution, we investigate Y chromosome gene content and structure in our model marsupial, the tammar wallaby (Macropus eugenii ). Using gene-specific and whole Y chromosome probes to screen BAC libraries, we have identified novel genes on the wallaby Y.. Many of these genes are also conserved on the Y in other Australian (Tasmanian devil) and American (opossum) marsupials, but lost from the Y in placental mammals.. This project will focus on characterising genes on the Tasmanian Devil Y chromosome, not only helping to understand mammal Y chromosomes, but also the X.. ...
Despite this, recent research has shown that the Y chromosome has developed some pretty convincing mechanisms to put the brakes on, slowing the rate of gene loss to a possible standstill.. For example, a recent Danish study, published in PLoS Genetics, sequenced portions of the Y chromosome from 62 different men and found that it is prone to large scale structural rearrangements allowing gene amplification - the acquisition of multiple copies of genes that promote healthy sperm function and mitigate gene loss.. The study also showed that the Y chromosome has developed unusual structures called palindromes (DNA sequences that read the same forwards as backwards - like the word kayak), which protect it from further degradation. They recorded a high rate of gene conversion events within the palindromic sequences on the Y chromosome - this is basically a copy and paste process that allows damaged genes to be repaired using an undamaged back-up copy as a template.. Looking to other ...
YRRM1 - Y Chromosome RNA Recognition Motif. Looking for abbreviations of YRRM1? It is Y Chromosome RNA Recognition Motif. Y Chromosome RNA Recognition Motif listed as YRRM1
Two recent studies in April 2014 in the journal Nature (from Washington University/MIT and the from Switzerland) summarized in this NY Times editorial, highlight the importance of the Y chromosome not only in sperm production and gender determination for men. The groups sequenced and compared the Y chromosome in 8 types of mammals including humans (which had been previously technically difficult to sequence due to many repeats of genetic code). Because Y-linked genes are active throughout the bodys cells, they may actually contribute to differences in disease susceptibility between men and women. By comparing the human Y chromosome with the chimpanzee for example, the researchers identified that the human Y has lost only one ancestral gene during the past 25 million years and since then has stabilized with an elite bunch of genes of which there are 12 in humans proving very important for male survival. Of course, more study is needed in the future to uncover the exact role of this small group ...
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 ...
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 ...
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 ...
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 ...
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
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 ...
A toothpick and a bit of chance shaped David Page’s career, which he has dedicated to understanding the mammalian Y chromosome and fetal germ cell development.
A toothpick and a bit of chance shaped David Pages career, which he has dedicated to understanding the mammalian Y chromosome and fetal germ cell development.. 0 Comments. ...
In this study we have established a simple, accurate and widely applicable method for determining the sex of primate DNA samples by using triple primer PCR of a small region of the UTX/UTY gene. The ubiquitously transcribed tetratricopeptide repeat protein gene (UTX/UTY) is located on the X and Y chromosomes and our analysis identified a region in the human UTY having the highest identity to the mouse Y chromosome. Due to the high conservation of this region the triple primer PCR setup works in all primate species tested. Furthermore, the method contains an internal positive control (the shared primer), but should always be tested in samples of known sex before actual analysis is carried out. Also, it may be necessary to perform species specific optimization of annealing temperature and/or primer concentrations prior to analysis. Since the nature of the Y chromosome allows deletion of many regions, it can be expected that with an increased number of individuals tested deletion of UTY might be ...
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,…
Classically, Y chromosomes are thought to originate from X chromosomes through a process of degeneration and gene loss. Now, the availability of 12 Drosophila genomes provides an opportunity to study the origin and evolution of Y chromosomes in an informative phylogenetic context. Surprisingly, the …
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 chromosome is ane o twa sex chromosomes (allosomes) in mammals, includin humans, an mony ither ainimals. The ither is the X chromosome. Y is the sex-determinin chromosome in mony species, syne it is the presence or absence o Y that determines the male or female sex o offspring produced in sexual reproduction. In mammals, the Y chromosome contains the gene SRY, which causes testis development. ...
The evolution of human populations has long been studied with unique sequences from the nonrecombining, male-specific Y chromosome (see the Perspective by Cann). Poznik et al. (p. 562) examined 9.9 Mb of the Y chromosome from 69 men from nine globally divergent populations-identifying population and individual specific sequence variants that elucidate the evolution of the Y chromosome. Sequencing of maternally inherited mitochondrial DNA allowed comparison between the relative rates of evolution, which suggested that the coalescence, or origin, of the human Y chromosome and mitochondria both occurred approximately 120 thousand years ago. Francalacci et al. (p. 565) investigated the sequence divergence of 1204 Y chromosomes that were sampled within the isolated and genetically informative Sardinian population. The sequence analyses, along with archaeological records, were used to calibrate and increase the resolution of the human phylogenetic tree. ...
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 ...
Chromosome Y: 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
The most prominent clade in Taiwan, O-M175 as a whole, represents almost 90% of Y chromosomes among the TwHan, about 95% among the TwPlt and more than 99% among the TwMtA (Additional file 1: Figures S1 and S2). Only one representative of the basal O*/O1*-M175 (xM119, P31, M122) was seen in each of the Luzon (Philippines), Fujian and TwPlt samples (Figure 2 and Additional file 1: Table S2). All other haplogroups of the O clade were observed at the derived state for the M119, P31 and M122 markers (Figure 2, Additional file 1: Table S2, and Additional file 1: Figures S1 and S2).. Haplogroup O1a*-M119 (Figure 2 and Additional file 1: Table S2) is seen throughout Batan (42%), the Philippines (4% to 33%) and Indonesia (4% to 18%). It has a patchy distribution among TwMtA (3-33%) and only some southern TwMtA show frequencies greater than 10% (i.e. Puyuma, Paiwan and Yami). O1a*-M119 was not observed in our Amis sample, neither in the Bunun, Saisiyat and Thao and has a low frequency among TwHan (1.4% to ...
EasyDNA Australia offers Y chromosome testing. The Y Chromosome test is used to determine if males share the same paternal lineage. Order your DNA test today!
In Genome Research this week: Y chromosome gene expression analysis, de novo mutations rise with paternal age in rhesus macaques, and more.
For many years it was believed that recombination on the human Y chromosome was restricted to the XY-homologous pseudoautosomal regions, with over 95% of the Y chromosome believed to be non-recombining. Over the past 7 years gene conversion has been shown to occur between several classes of paralog situated outside of the pseudoautosomal regions. Gene conversion has been shown to occur both intrachromosomally on the Y chromosome, and between the X and the Y chromosomes (Cruciani et al. 2010; Rosser et al. 2009; Rozen et al. 2003; Trombetta et al. 2009) and several biases in the direction of gene conversion have been suggested (Bosch et al. 2004; Rozen et al. 2003; Trombetta et al. 2009). This study has used interspecies sequence comparisons to identify regions of the Y chromosome which are likely to be undergoing gene conversion. Phylogenetic analysis of paralogous sequence variants (PSVs) or gametologous sequence variants (GSVs) identified between these regions has been carried out. ...
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. ...
Previous studies of Y chromosome variation have revealed that western Europe, the Volga-Ural region, and the Caucasus differ dramatically with respect to Y-SNP haplogroup composition. The European part of Russia is situated in between these three regions; to determine if these differences reflect clines or boundaries in the Y-chromosome landscape, we analyzed 12 Y-SNPs in 545 males from 12 populations from the European part of Russia. The majority of Russian Y chromosomes (from 74% to 94%) belong to three Y chromosomal lineages [I-M170, R1a1-M17, and N3-TAT] that are also frequent in the rest of east Europe, north Europe, and/or in the Volga-Ural region. We find significant but low correlations between haplogroup frequencies and the geographic location of populations, suggesting gradual change in the Y chromosome gene pool across western Eurasia. However, we also find some significant boundaries between populations, suggesting that both isolation and migration have influenced the Y chromosome ...
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, ...
Y chromosome haplotyping based on microsatellites and single nucleotide polymorphisms (SNPs) has proved to be a powerful tool for population genetic studies of humans. However, the promise of the approach is hampered in the majority of nonhuman mammals by the lack of Y-specific polymorphic markers. We were able to identify new male-specific polymorphisms in the domestic cat Felis catus and 6 additional Felidae species with a combination of molecular genetic and cytogenetic approaches including 1) identifying domestic cat male-specific microsatellites from markers generated from a male cat microsatellite-enriched genomic library, a flow-sorted Y cosmid library, or a Y-specific cat bacteria artificial chromosome (BAC) clone, (2) constructing microsatellite-enriched libraries from flow-sorted Y chromosomes isolated directly from focal wildcat species, and (3) screening Y chromosome conserved anchored tagged sequences primers in Felidae species. Forty-one male-specific microsatellites were ...
Looking for online definition of pseudoautosomal region in the Medical Dictionary? pseudoautosomal region explanation free. What is pseudoautosomal region? Meaning of pseudoautosomal region medical term. What does pseudoautosomal region mean?
The evolution of sex chromosome dimorphism (SCD) is generally thought to follow a repeatable pattern. If one of the sex chromosomes carries a sex-determining region with at least two loci that should be linked together, selection favours the process of preventing sex chromosomes from recombination [1,2]. In turn, the lack of recombination leads to degeneration of the chromosome that is present only in one sex. The genetic degeneration of the hemizygous chromosome can occur because of Hill-Robertson effects, such as Mullers ratchet, background selection and the hitchhiking of deleterious alleles to advantageous mutations (reviewed in Charlesworth & Charlesworth [3]). Genetic degeneration, accompanied by morphological shrinking of hemizygous chromosomes, is observed in both XY and ZW chromosome systems [2,4]. Yet, most of the research focus has been on the mammalian Y chromosome [5], in which rapid degeneration can, to some extent, be attributed to a higher mutation rate in males (owing to more ...
The most common variations involve a trisomy, which means three sex chromosomes instead of the typical two. Girls who are born with an extra X chromosome are referred to as having Triple X or Trisomy X. Boys who are born with an extra X chromosome have 47,XXY, also known as Klinefelter syndrome. And boys who are born with an extra Y chromosome have 47,XYY, occasionally referred to as Jacobs syndrome. In addition, there are a number of other X and/or Y conditions including 48 or 49 chromosomes. These include 48,XXXX, 48XXXY, 48XXYY and 48XYYY; and although increasingly rare, also 49XXXXX, 49XXXXY, 49XXXYY, 49XXYYY and 49XYYY. Some individuals may have two cell lines, which is called mosaicism, such as 46,XY/47,XXY.. ...
Background: Array CGH is a powerful tool for the detection of copy number changes in the genome. Methods: We have developed a human X and Y chromosome tiling path array for the analysis of sex chromosome aberrations. Results: Normal X and Y chromosome profiles were established by analysis with DNA from normal fertile male and female individuals. Infertile males with known Y deletions confirmed the competence of the array to detect AZFa, AZFb and AZFc deletions and to distinguish between different AZFc lesions. Examples of terminal and interstitial deletions of Xp (previously characterised through cytogenetic and microsatellite analysis - [Lachlan et al, 2006]) have been assessed on the arrays both confirming and refining the established deletion breakpoints. Breakpoints in iso-Yq, iso-Yp and X-Y translocation chromosomes and X-Y interchanges in XX males are also amenable to analysis. Discussion: The resolution of the tiling path clone set used allows breakpoints to be placed within 100-200Kb, ...
This review considers genome-scale evidence on ancient Y chromosome diversity that has recently started to accumulate in geographic areas favourable to DNA preservation.
The Y chromosome data seems particularly exciting (there is a spreadsheet of populations in the download directory). One of the weaknesses of the 1000 Genomes data was that it didnt have any populations between Tuscany and East/South Asia, and the new dataset seems to rectify that ...
Haplogroup E, defined by mutation M40, is the most common human Y chromosome clade within Africa. To increase the level of resolution of haplogroup E, we disclosed the phylogenetic relationships among 729 mutations found in 33 haplogroup DE Y-chromosomes sequenced at high coverage in previous studies. Additionally, we dissected the E-M35 subclade by genotyping 62 informative markers in 5,222 samples from 118 worldwide populations. The phylogeny of haplogroup E showed novel features compared with the previous topology, including a new basal dichotomy. Within haplogroup E-M35, we resolved all the previously known polytomies and assigned all the E-M35* chromosomes to five new different clades, all belonging to a newly identified subhaplogroup (E-V1515), which accounts for almost half of the E-M35 chromosomes from the Horn of Africa. Moreover, using a Bayesian phylogeographic analysis and a single nucleotide polymorphism-based approach we localized and dated the origin of this new lineage in the ...
Writing in PLoS Genetics, Makova explains that by comparing the DNA of the X and Y chromosomes in eutherian mammals to the DNA of the non-sex chromosomes in the opossum and platypus, the researchers were able to go back in time to the point when the X and Y chromosomes were still swapping DNA, just like the non-sex chromosomes in the opossum and platypus. The scientists then were able to observe how the DNA of the X and Y chromosomes changed over time relative to the DNA of the non-sex chromosomes. Our research revealed that the Y-specific DNA began to evolve rapidly at the time that the DNA region split into two entities, while the X-specific DNA maintained the same evolutionary rate as the non-sex chromosomes, said Makova.. After determining that the Y chromosome has been evolving more rapidly and has been losing more genes as a result, they wanted to find out why the Y chromosome has not already disappeared entirely. Today, the human Y chromosome contains less than 200 genes, while the ...
TY - CHAP. T1 - Mammalian Sex Chromosomes Evolution in Cooper d.N.. AU - Dorus, S. AU - Wyckoff, J. AU - Lahn, B T. PY - 2003. Y1 - 2003. M3 - Chapter. VL - 3. SP - 822. EP - 826. BT - Nature Encyclopedia of the Human Genome. ER - ...
Does it change any of my conclusions in my chimp genome paper (sadly enough, the most popular thing Ive ever written)? Not really. On the one hand, this is yet another example of a part of the human genome that really does significantly differ from the chimp genome. I documented some of those in the article, including the size difference in the Y chromosomes. I concluded that these differences are quite minor features that are overwhelmed by the near-identity of the rest of the human and chimp genomes. In the case of the MSY, its important to keep in mind that the chimp MSY sequence reported by Hughes et al. is only 25.8 Mb. Thats slightly less than 1% of the entire genome. Given that fixed nucleotide differences between the human and chimp genomes are around 1%, having yet another 1% difference in the very different Y chromosomes doesnt make the genomes that much more different than they already were ...
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.
What I was referring to was the possibility that the Y chromosome, in whole or in part, can recombine with the X chromosome and thus leave a trace in a genetic and physiological female. Without the key gene structure (SRY) that determines masculine development, an individual that is genetically male can develop as a female (and vice versa should SRY be recombined into an X chromosome). However, the likelihood of any of this occuring in nature is sustantially reduced as approximately 95% of the Y chromosome has been rendered incapable of recombination. Basically, a few small regions near the end of a Y chromosome are capable of recombining with an X chromosome but they are far away from any of the sex-determining regions. It is thus possible for a daughter to have some recombined Y chromosome DNA from their father, but not really anything deterministic for their physiological development. There are possible physical errors that can occur during meiosis (cell division producing reproductive ...
What I was referring to was the possibility that the Y chromosome, in whole or in part, can recombine with the X chromosome and thus leave a trace in a genetic and physiological female. Without the key gene structure (SRY) that determines masculine development, an individual that is genetically male can develop as a female (and vice versa should SRY be recombined into an X chromosome). However, the likelihood of any of this occuring in nature is sustantially reduced as approximately 95% of the Y chromosome has been rendered incapable of recombination. Basically, a few small regions near the end of a Y chromosome are capable of recombining with an X chromosome but they are far away from any of the sex-determining regions. It is thus possible for a daughter to have some recombined Y chromosome DNA from their father, but not really anything deterministic for their physiological development. There are possible physical errors that can occur during meiosis (cell division producing reproductive ...
Morphologically then X that is functionally distinct and chromosomes need over repeatedly developed over the tree out of lives. But that the level out of differentiation amongst the intercourse chromosomes differs considerably around types. The Y chromosome gene activity decays, leaving genes on the sex chromosomes reduced to a single functional copy in males as sex chromosomes diverge. Mechanisms own evolved to pay with this decrease in gene dosage. Right right Here, people execute a comparative review concerning intercourse chromosome techniques all-around poeciliid types plus unearth overwhelming variation as part of their education concerning sex chromosome differentiation to Y chromosome degeneration. Also, people come across proof for a full situation concerning chromosome-wide dosage payment at seafood. Your results need crucial ramifications towards intercourse chromosome development plus legislation. After recombination try halted between your X and also Y chromosomes, sex chromosomes ...
Charlesworth and Charlesworth 1997) seems to approximate the simulations reasonably well for a small equilibrium size of the best class (although this is highly dependent on the mutation rate), but greatly overestimates the time for a click when n0 is large or u is low.. The observation that, for a constant n0 and constant s, we did not observe significant differences in the speed of the ratchet, over an order of magnitude change in the population size (Figure 1), suggests that n0s is an important parameter, although the expression for the average time between clicks of the ratchet is not an explicit function of n0s. For the parameter range considered here we observe that an increase of 10-fold in n0s caused a decrease of ~10-fold in the speed of the ratchet.. Y and neo-Y chromosome degeneration: Because an incipient Y chromosome, or a neo-Y chromosome resulting from an autosome fusion or translocation, that fails to recombine with its homologue in the heterogametic sex is vulnerable to the ...
The Dniester-Carpathian region has attracted much attention from historians, linguists, and anthropologists, but remains insufficiently studied genetically. We have analyzed a set of autosomal polymorphic loci and Y-chromosome markers in six autochthonous Dniester-Carpathian population groups: 2 Moldavian, 1 Romanian, 1 Ukrainian and 2 Gagauz populations. To gain insight into the population history of the region, the data obtained in this study were compared with corresponding data for other populations of Western Eurasia. The analysis of 12 Alu human-specific polymorphisms in 513 individuals from the Dniester-Carpathian region showed a high degree of homogeneity among Dniester-Carpathian as well as southeastern European populations. The observed homogeneity suggests either a common ancestry of all southeastern European populations or a strong gene flow between them. Nevertheless, tree reconstruction and principle component analyses allow the distinction between Balkan-Carpathian (Macedonians, ...
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, .... ...
Research published in this weeks Science reveals that the Y chromosome developed from an X-like ancestor around 300 million years ago.. Of our 46 human chromosomes, 44 form matched pairs. But two - the X and the Y chromosomes - stand apart because they have no perfect match. But it wasnt always like this. Researchers at the Howard Hughes Medical Institute have found that the X and Y chromosomes evolved from a standard identical pair around 300 million years ago - shortly after the divergence of the evolutionary lines leading to mammals and birds.. The first events that created the sex chromosomes had been thought to have occurred at least 170 million years ago, says researcher Dr David Page. Were pushing that back another 100 million years or so.. Page and colleague Dr Bruce Lahn reconstructed the stages of sex chromosome evolution, and the time course over which these chromosomes were built. By fossil digging on the sex chromosomes, we were able to reconstruct the four events that drove ...
It was hosted by the National Human Genome Research Institute (NHGRI), and featured several prominent scientists. I was only able to attend one of the sessions, that given by one of the rockstars in my field, David Page, M.D.. I tweeted about the talk (I missed a few bits here and there due to glitches with the live broadcast, but caught most of it), but didnt think to look up the hashtag (I had to run to make it on time after pumping). To summarize, the first half of the talk was a summary of sex chromosome evolution, focusing particularly on the Y chromosome. The second half discussed new research connecting the Y chromosome with infertility and (the really exciting part), potentially Turner Syndrome. He finished by emphasizing that careful, complete sequencing is necessary for studies of the Y chromosome, and for understanding the impact of both the Y chromosome and complex regions of the genome on human disease and infertility ...
In the framework of the project Immigration and mobility in mediaeval and post-mediaeval Norway molecular genetic analyses were performed on 97 pre-modern human remains including genetic sexing and Y-chromosomal DNA typing. All samples were subjected to molecular genetic analyses of the sex using Genderplex consisting of two diff erent regions of the amelogenin gene, SRY and four X-STR loci. From 90% of the extracted remains (n=87) sex assignment was possible. Of these, 49 (56.3%) brought a genetically male result. All of these DNA extracts were subjected to Y-STR analysis using Yfiler Plus PCR Amplification Kit (Thermo Fisher Scientifi c) and/or PowerPlex Y23 System (Promega). At least partial Y-STR profiles were obtained from all samples. A detailed comparison between mediaeval/post-mediaeval and contemporary Y-chromosomes was performed by searching the obtained haplotypes (HTs) in the Y Chromosome Haplotype Reference Database (YHRD: https://yhrd.org) comprising 154,329 haplotypes from 991 ...
Repeated elements are remarkably important for male meiosis and spermiogenesis in Drosophila melanogaster. Pairing of the X and Y chromosomes is mediated by the ribosomal RNA genes of the Y chromosome and X chromosome heterochromatin, spermiogenesis depends on the fertility factors of the Y chromosome. Intriguingly, a peculiar genetic system of interaction between the Y-linked crystal locus and the X-linked Stellate elements seem to be also involved in male meiosis and spermiogenesis. Deletion of the crystal element of the Y, via an interaction with the Stellate elements of the X, causes meiotic abnormalities, gamete-genotype dependent failure of sperm development (meiotic drive), and deposition of protein crystals in spermatocytes. The current hypothesis is that the meiotic abnormalities observed in cry- males is due to an induced overexpression of the normally repressed Ste elements. An implication of this hypothesis is that the strength of the abnormalities would depend on the amount of the ...
The Infertility Center of St. Louis was the first to study the relationship between the Y chromosome and male infertility. Tiny amounts of sperm are often found in the testes of azoospermic men previously thought to be making no sperm. Read more to learn what Dr. Silbers research means for you.
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, ...
The pseudoautosomal (PA) region of the mammalian genome is the region of the X and Y chromosomes that shares extensive DNA sequence homology and is of special interest because it may play an essential role during male meiosis. We have identified three telomere-related restriction fragments from the PA region of the mouse genome, using an oligonucleotide probe composed of the mammalian telomere consensus sequence TTAGGG. PA assignment of two C57BL/6J-derived fragments was initially suggested by analysis of DNAs from progeny sired by C57BL/6J males carrying the rearranged Y chromosome, Y*: the hybridization intensity of both fragments was concordant with the sex-chromosome complement of the offspring. Further analysis indicated that both fragments were present in female and male F1, mice regardless of the sex of their C57BL/6J parent--a criterion for autosomal or PA linkage. Both fragments were closely linked to each other and located on the X chromosome distal to amelogenin (Amg)--in
Submitted on 19 Dec 2014) House of Aisin Gioro is the imperial family of the last dynasty in Chinese history - Qing Dynasty (1644 - 1911). Aisin Gioro family originated from Jurchen tribes and developed the Manchu people before they conquered China. By investigating the Y chromosomal short tandem repeats (STRs) of 7 modern male individuals who claim belonging to Aisin Gioro family (in which 3 have full records of pedigree), we found that 3 of them (in which 2 keep full pedigree, whose most recent common ancestor is Nurgaci) shows very close relationship (1 - 2 steps of difference in 17 STR) and the haplotype is rare. We therefore conclude that this haplotype is the Y chromosome of the House of Aisin Gioro. Further tests of single nucleotide polymorphisms (SNPs) indicates that they belong to Haplogroup C3b2b1*-M401(xF5483), although their Y-STR results are distant to the star cluster, which also belongs to the same haplogroup. This study forms the base for the pedigree research of the imperial ...
Disclaimer: This site is for educational purposes only; it can not be used in diagnosis or treatment. Cite this page: Cotterill SJ. Chromosome Y, Cancer Genetics Web: http://www.cancerindex.org/geneweb/clinkc24.htm Accessed: [Home] Page last revised: 15 February, 2015 © Copyright 1999-. ...
The Y chromosome may be a symbol of masculinity, but it is becoming increasingly clear that it is anything but strong and enduring. Although it carries the
It is generally well known that men have an overall shorter life expectancy compared to women. A recent study, led by Uppsala University researchers, shows a correlation between a loss of the Y chromosome in blood cells and ...
Modern humans diverged from Neanderthals some 600,000 years ago - and a new study shows the Y chromosome might be what kept the two species separate. It seems we were genetically incompatible with our ancient relatives - and male fetuses conceived through sex with Neanderthal males would have miscarried. We knew that some cross-breeding between…
In genetic sex-determination systems, an organisms sex is determined by the genome it inherits. Genetic sex-determination usually depends on asymmetrically inherited sex chromosomes which carry genetic features that influence development; sex may be determined either by the presence of a sex chromosome or by how many the organism has. Genetic sex-determination, because it is determined by chromosome assortment, usually results in a 1:1 ratio of male and female offspring. Humans and other mammals have an XY sex-determination system: the Y chromosome carries factors responsible for triggering male development. The default sex, in the absence of a Y chromosome, is female. Thus, XX mammals are female and XY are male. XY sex determination is found in other organisms, including the common fruit fly and some plants. In some cases, including in the fruit fly, it is the number of X chromosomes that determines sex rather than the presence of a Y chromosome (see below). In birds, which have a ZW ...
Genghis Khan achievements: If you ever had any doubts about a single man making any notable difference in the world, Genghis Khans genetic legacy will dispel them. He not only carved himself an immense empire, he contributed to populating it himself. He has over 16 million descendants presently thriving in parts of the former Mongol Empire. Science is finding out more about the history of Genghis Khan and his legacy through studies of the Y chromosome.
The minimum requirements for a Y chromosome with Monika Ward; Eliot Marshall checks in on U.S.s missile interception program 30 years later; Sylvia Zhu breaks down observations from the brightest gamma-ray burst.. ...
have scientests found any disorders that are linked to the y chromosome? If they have could you tell me where I can get more info on it, cause last I heard they havnt ...
Forensic Sci Int. 2002 Jan 24;125(1):86-9. Related Articles, Links Y-chromosome STR haplotypes in a southwest Spain population sample. Gamero JJ, Romero JL, Gonzalez JL, Carvalho M, Anjos MJ, Real FC, Vide MC. Department of Legal Medicine, Faculty of Medicine, University of Cadiz, Fragela s/n, Cadiz 11003, Spain. [email protected] The Y-chromosome polymorphism of eight STRs (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392; DYS393, DYS385) were studied in 111 unrelated
The male sex chromosome has long been called our genetic junkyard, a clutter of meaningless DNA surrounding a handful of genes--and those only good for making more men. But after rummaging through the scrap heap, two biologists say they have discovered five genes that are used throughout the body to help keep cells working properly. The researchers also describe in todays issue of Science another seven genes that are unique to the Y chromosome and lie in regions known to be involved in infertility.. Massachusetts Institute of Technology biologists Bruce Lahn and David Page knew that the Y chromosomes barren reputation rested on limited evidence. Panning for gold, the researchers examined cells from human testes, where they guessed genes on the Y chromosome should be particularly active. They collected messenger RNA (mRNA), which is made from active genes and eventually codes for proteins; because each gene has a unique corresponding mRNA strand, mRNA levels reveal which genes are actively ...
Chromosomes can also be fused artificially. For example, the 16 chromosomes of yeast have been fused into one giant chromosome ... Chromosomes in humans can be divided into two types: autosomes (body chromosome(s)) and allosome (sex chromosome(s)). Certain ... and two sex chromosomes. This gives 46 chromosomes in total. Other organisms have more than two copies of their chromosome ... see chromosome (genetic algorithm) Genetic genealogy Genealogical DNA test Lampbrush chromosome List of number of chromosomes ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 16: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 16: ... "Chromosome 16". Genetics Home Reference. Archived from the original on August 3, 2004. Retrieved 2017-05-06. "Chromosome 16". ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 16". Genet Test. 3 (2): 243-54. ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 ... "Chromosome 6: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 6: ... "Chromosome 6". Genetics Home Reference. Archived from the original on 2007-08-12. Retrieved 2017-05-06. "Chromosome 6". Human ... "Chromosome 6 Research Project". Parent-driven research for genotype-phenotype studies on chromosome 6 disorders. Retrieved 2017 ...
Balancer chromosomes are named for the chromosome they serve to stabilize and for the phenotypic or genetic marker the balancer ... Balancer chromosomes (or simply balancers) are a type of genetically engineered chromosome used in laboratory biology for the ... Substituting a balancer chromosome for the wild-type homolog of the chromosome carrying the recessive mutation prevents the ... F stands for the first chromosome, S for second, and T for third. The small fourth chromosome does not undergo recombination ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 13: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 13: ... As a result, a person has the two usual copies of chromosome 13, plus extra material from chromosome 13 attached to another ... "Chromosome 13". Genetics Home Reference. Archived from the original on October 9, 2004. Retrieved 2017-05-06. "Chromosome 13". ...
A derivative chromosome (der) is a structurally rearranged chromosome generated either by a chromosome rearrangement involving ... Derivative chromosomes are designated by the abbreviation der when used to describe a Karyotype. The derivative chromosome must ... two or more chromosomes or by multiple chromosome aberrations within a single chromosome (e.g. an inversion and a deletion of ... the same chromosome, or deletions in both arms of a single chromosome).[1] The term always refers to the chromosome that has an ...
In an experiment pertaining to chromosome engineering that was conducted in 2006, it was found that chromosome engineering can ... After much experimenting, it was found that manipulating chromosomes, or chromosome engineering, is an excellent and efficient ... Genetics Chromosome Chromosomal deletion Chromosomal inversion Chromosomal translocation DNA Disease "Chromosome engineering". ... Chromosome engineering is "the controlled generation of chromosomal deletions, inversions, or translocations with defined ...
... is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each ... Chromosome 22 was the first human chromosome to be fully sequenced. Human chromosomes are numbered by their apparent size in ... "Chromosome 22: Chromosome summary - Homo sapiens". Ensembl Release 88. 29 March 2017. Retrieved 19 May 2017. "Human chromosome ... A small extra chromosome is made up of genetic material from chromosome 22 that has been abnormally duplicated (copied). The ...
... is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. ... "Chromosome 2: Chromosome summary - Homo sapiens". Ensembl Release 88. 29 March 2017. Retrieved 19 May 2017. "Human chromosome 2 ... Human chromosome 2 is a result of an end-to-end fusion of two ancestral chromosomes. The evidence for this includes: The ... Normally a chromosome has just one centromere, but in chromosome 2 there are remnants of a second centromere in the q21.3-q22.1 ...
... without any need for chromosome walking and its associated problems. Chromosome landing, together with the technology that has ... From the abstract of PMID 7716809: The strategy of chromosome walking is based on the assumption that it is difficult and time ... Primer walking Tanksley, Steven D.; Ganal, Martin W.; Martin, Gregory B. (February 1995). "Chromosome landing: a paradigm for ... and/or highly repetitive genomes by minimizing the need for chromosome walking. It is based on the principle that the expected ...
... is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 ... A ring chromosome occurs when both ends of a broken chromosome are reunited. G-banding ideograms of human chromosome 7 In the ... "Chromosome 7: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 7: ... "Chromosome 7". Genetics Home Reference. Archived from the original on August 3, 2004. Retrieved 2017-05-06. "Chromosome 7". ...
A linear chromosome is a chromosome which is linear in shape, and contains terminal ends. In most eukaryotic cells, DNA is ... However, linear chromosomes are not limited to eukaryotic organisms; some prokaryotic organisms have linear chromosomes as well ... One potential selective pressure in favor of linear chromosomes relates to the size of an organism's genome: linear chromosomes ... However, telomeres do not fully prevent the loss of coding DNA at the terminal ends of linear chromosomes. In fact, the ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 10: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 10: ... "Chromosome 10". Genetics Home Reference. Archived from the original on 2010-04-08. Retrieved 2017-05-06. "Chromosome 10". Human ... chromosome 10 open reading frame 67 C10orf99: encoding protein Chromosome 10 open reading frame 99 CAMK1D: calcium/calmodulin- ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 ... "Chromosome 5: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 5: ... A ring chromosome occurs when both ends of a broken chromosome are reunited. G-banding ideograms of human chromosome 5 "Human ... Changes to chromosome 5 include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial ...
A dicentric chromosome is an abnormal chromosome with two centromeres. It is formed through the fusion of two chromosome ... a trisomy of chromosome 18, and Turner syndrome, a loss (or partial loss) of the X chromosome. Pseudodicentric chromosomes ... Most dicentric chromosomes are known to form through chromosomal inversions, which are rotations in regions of a chromosome due ... As these chromosomes are pulled apart, the chromosome bridges break, resulting in the formation of "tailed" nuclei, protrusions ...
Chromids have at least one core gene absent from the main chromosome. (Main chromosomes contain the bulk of the core genes of a ... two separate bacterial chromosomes may arise through the splitting of one larger chromosome, resulting in a main and a ... negotiating the cell cycle in prokaryotes with multiple chromosomes: Multiple chromosomes in prokaryotes". Molecular ... The main chromosome is therefore termed as an "rrn-lacking chromsome" or RLC, and so the clade of bacteria within Aureimonas ...
The large majority of these marker chromosomes are smaller than one of the smaller human chromosomes, chromosome 20, and by ... Chromosome 15 has been observed to contribute to a high number of marker chromosomes, but the reason has not been determined. ... A marker chromosome (mar) is a small fragment of a chromosome which generally cannot be identified without specialized genomic ... Marker chromosomes typically occur in addition to the standard 46 chromosomes, making it a partial trisomy or tetrasomy ...
... is one of the 23 pairs of chromosomes in humans. Chromosome 21 is both the smallest human autosome and chromosome ... Chromosome 21 was the second human chromosome to be fully sequenced, after chromosome 22. The following are some of the gene ... "Chromosome 21: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 21: ... and a circular structure called ring chromosome 21. A ring chromosome occurs when both ends of a broken chromosome are reunited ...
Unlike chromosome walking, chromosome jumping is able to start on one point of the chromosome in order to traverse potential ... Combining chromosome jumping to chromosome walking through the chromosome allows bypassing repetitive DNA for the search of the ... Shotgun sequencing Chromosome walking Chromosome landing Jumping library Drumm ML (May 2001). "Construction of chromosome ... Chromosome jumping library is different from chromosome walking due to the manipulations executed before the cloning step. In ...
A circular chromosome is a chromosome in bacteria, archaea, mitochondria, and chloroplasts, in the form of a molecule of ... However, a circular chromosome can provide other challenges for cells. After replication, the two progeny circular chromosomes ... Eventually, the two replication forks moving around the circular chromosome meet in a specific zone of the chromosome, ... The nucleoside base was incorporated uniformly into the bacterial chromosome. He then isolated the chromosomes by lysing the ...
Holocentric chromosomes were described for the first time by Franz Schrader in 1935, who identified chromosomes with a diffuse ... Holocentric chromosomes are chromosomes that possess multiple kinetochores along their length rather than the single centromere ... Since this first observation, the term holocentric chromosome has referred to chromosomes that: i) lack the primary ... holocentric chromosomes without any further step. A detailed molecular analysis of the structure of holocentric chromosomes is ...
A ring chromosome is an aberrant chromosome whose ends have fused together to form a ring. Ring chromosomes were first ... "Orphanet: Ring chromosome 6 syndrome". www.orpha.net. "Orphanet: Ring chromosome 7 syndrome". www.orpha.net. "Ring chromosome 8 ... "Orphanet: Ring chromosome 18 syndrome". www.orpha.net. "Orphanet: Ring chromosome 19 syndrome". www.orpha.net. "Ring chromosome ... A ring chromosome is denoted by the symbol r in human genetics and R in Drosophila genetics. Ring chromosomes may form in cells ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 ... "Chromosome 3: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 3: ... "Chromosome 3". Genetics Home Reference. Archived from the original on 2010-04-08. Retrieved 2017-05-06. "Chromosome 3". Human ... biotinidase C3orf14-Chromosome 3 open reading frame 14: predicted DNA binding protein. CFAP20DC: encoding protein Chromosome 3 ...
... is also used to study DNA replication, a highly regulated process that is reliant on a specific program of ... Chromosome combing (also known as molecular combing or DNA combing) is a technique used to produce an array of uniformly ... Chromosome combing allows a genome-wide view of the firing of origins and propagation of replication forks. As no assumptions ... Chromosome combing is performed by the company Genomic Vision, based in Paris. Bensimon, A.; Simon, A.; Chiffaudel, A.; ...
These chromosomes are called satellite chromosomes. In humans it is usually associated with the short arm of an acrocentric ... Satellite or SAT chromosomes are chromosomes that contain secondary constructs that serve as identification. They are observed ... The satellite at metaphase appears to be attached to the chromosomes by a thread of chromatin. SAT-chromosomes whose secondary ... With time, the term "SAT-chromosome" simply became a synonym and also an abbreviation for satellite chromosome. ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 ... "Chromosome 8: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Archived from the original on 2019-12-03. ... "Chromosome 8". Genetics Home Reference. Archived from the original on October 14, 2004. Retrieved 2017-05-06. "Chromosome 8". ... on chromosomes 1q32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3-24 and ...
... one chromosome may have a piece of another chromosome inserted within it, creating extra bands. Or, a portion of a chromosome ... Scientists who study chromosomes are known as cytogeneticists. They are able to identify each chromosome based on its unique ... Chromosome microdissection is a technique that physically removes a large section of DNA from a complete chromosome. The ... Chromosome microdissection is a specialized way of isolating these regions by removing the DNA from the band and making that ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 19: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 19: ... "Chromosome 19". Genetics Home Reference. Archived from the original on August 3, 2004. Retrieved 2017-05-06. "Chromosome 19". ... Gilbert F (1997). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 19". Genet Test. 1 (2): 145-9. ...
... is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome, as they ... "Chromosome 9: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 9: ... "Chromosome 9". Genetics Home Reference. Archived from the original on 2007-06-30. Retrieved 2017-05-06. "Chromosome 9". Human ... Gilbert F, Kauff N (2001). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 9". Genet Test. 5 (2): ...
As chromosome instability refers to the rate that chromosomes or large portions of chromosomes are changed, there should be ... It can occur due to loss of a whole chromosome, gain of a whole chromosome or rearrangement of partial chromosomes known as ... Since human chromosomes contain repetitive DNA sections, broken DNA segments from one chromosome can combine with similar ... Although chromosome instability has long been proposed to promote tumor progression, recent studies suggest that chromosome ...
Donate now to increase awareness and research into chromosome disorders. Chromosome Disorder Outreach is a 501(c)(3) non-profit ... You are donating to : Chromosome Disorder Outreach, Inc, a 501(c)(3) non-profit organization. How much would you like to donate ... Chromosome Disorder Outreach is asked frequently how to learn more about the genes associated with human diseases involved in ... Chromosome Disorder Outreach, Inc.. P.O. Box 724. Boca Raton, FL 33429-0724. [email protected] ...
... Hum Genet. 1993 Jan;90(5):572-4. doi: 10.1007/BF00217462. ... in situ hybridization of a cloned DYZ2 fragment at higher stringency conditions on 5-aza-cytidine-enlarged Y chromosomes; the ...
Chromosome 22 is the second smallest human chromosome, spanning more than 51 million DNA building blocks (base pairs) and ... chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. The extra chromosome is known as a ... A ring chromosome is a circular structure that occurs when a chromosome breaks in two places, the tips of the chromosome are ... Chromosome 22 was the first human chromosome to be fully sequenced.. Identifying genes on each chromosome is an active area of ...
... to observable changes in its chromosomes. These experiments led to the construction of ... Other articles where chromosome map is discussed: Calvin Blackman Bridges: … ... to observable changes in its chromosomes. These experiments led to the construction of "gene maps" and proved the chromosome ... In principle at least, such maps could be prepared even if the chromosomes, not to speak of the chiasmata at meiosis, were ...
... chromosome crawling. When other proteins are bound to the chromosome, they act like roadblocks and slow the search. Moreover, ... Protein crawls on chromosome. Nature volume 486, page 443 (2012)Cite this article ... Proteins that control gene expression by attaching to specific DNA sequences amble along chromosomes until they hit their ... Protein crawls on chromosome. Nature 486, 443 (2012). https://doi.org/10.1038/486443c ...
Acentric chromosome: A fragment of a chromosome (one of the microscopically visible carriers of the genetic material DNA) that ... of the chromosome essential for the division and the retention of the chromosome in the cell) and so is lost when the cell ... Medical Definition of Acentric chromosome. *Medical Editor: Charles Patrick Davis, MD, PhD ...
Biodosimetry : chromosome aberration in lymphocytes and electron paramagnetic resonance in tooth enamel from atomic bomb ... Methods for the analysis of human chromosome aberrations / edited by K. E. Buckton, H. J. Evans  ...
Slx and Sly are multicopy genes present on the X and Y chromosomes, respectively. We have demonstrated that Slx and Sly are ... The aim of our project was to better understand the epigenetic regulation of sex chromosomes during sperm differentiation and ... Final Report Summary - EPIGEFXY (Epigenetic regulation of the sex chromosomes and male infertility). Human infertility affects ... sperm differentiation requires a high proportion of genes located on the sex chromosomes (i.e. the X and the Y). Expression of ...
Lists IRP clinical trials on X and Y chromosome variations recruiting adults. ... Adults: X & Y Chromosome Variations. Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy ... We will also look at brain changes and development in people with different developmental disorders, including sex chromosome ...
... human chromosome 1; صبغي 1; χρωμόσωμα 1; Chromosoma 1; cromosoma umano; মানব ক্রোমোজম; chromosome humain; 人類染色體; humant ... Human chromosome 01 with ASD genes from IJMS-16-06464.png 644 × 2,828; 582 KB. ... Media in category "Human chromosome 1". The following 50 files are in this category, out of 50 total. ... Human chromosome 01 from Gene Gateway - with label.png 1,301 × 2,340; 403 KB. ...
Now that the abnormality on the implicated chromosome arm has been identified, the next step is to identify the genes involved ... May 25, 2005 (Orlando) - Loss of heterozygosity on chromosome arm 11q is associated with a poor prognosis in neuroblastoma, ... Chromosome Abnormality Linked to Poor Outcome in Neuroblastoma - Medscape - May 25, 2005. ... The investigators screened primary neuroblastomas from 917 patients for chromosome 11 loss of heterozygosity (LOH) using a ...
Chromosome Surveys of Human Populations: between Epidemiology and Anthropology. Europe/Berlin. public. ...
All about Chromosome. FACTS: Chromosomes are threadlike structures inside of cells that store genetic information. They are ... Thus, "chroma" or color is the basis of the word chromosome.. The DNA within chromosomes contains the genetic code that ... The ends of chromosomes are marked with DNA sequences called telomeres. These are like plastic tips at the ends of shoelaces, ... DNA is so tightly wound in each chromosome that the entire human genetic code of 3 billion base pairs fits in an area of just 6 ...
When were told a condition we have is "genetic", its tempting to think it means our parents had it, and their parents before them, all the way up to some mysterious Eve-bites-the-apple event. But.... ...
Properly condensed chromosomes are necessary for accurate segregation of the sisters after DNA replication. The Escherichia ... MukB is a structural maintenance of chromosome-like protein required for DNA condensation. The complete condensin is a large ... MukBEF, a structural maintenance of chromosome-like protein complex consisting of an ATPase, MukB, and two interacting subunits ... The MukB-topoisomerase IV interaction is required for proper chromosome compaction. Journal of Biological Chemistry ...
The available genomic data shows that the sequence features encompassing the purported chromosome 2 fusion site are too ... The chromosome 2 fusion is thought to account for the fact that humans have only 46 (2N) chromosomes and the great apes, ... Fan, Y. et al., Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and ... The numbers refer to chromosome bands-sections of the chromosome that can be visualized by stains and dyes or other techniques ...
... the DNA molecule is packaged into thread-like structures called chromosomes. Each chromosome is made up of DNA tightly coiled ... Y chromosome loss in men can lead to deadly heart failure, research shows The loss of the male sex chromosome as many men age ... Sometimes cleaved chromosomes do not recover and genomic stability is compromised - which in the long run might promote cancer ... Men with hematopoietic mosaic loss of Y chromosome have worse prognosis for heart failure research group led by Dr. Soichi Sano ...
The chromosome may contain regions that promote their DNAs spread by killing sperm that carry Y chromosomes. However, Y ... A rat without a Y chromosome could be a glimpse of our genetic future ... Modern humans evolved a selfish X chromosome after Africa exodus. ... the densely packed DNA that makes up chromosomes. ... Unzipped chromosomes pass on parental stress. Health 27 June ...
Stanford psychiatrist Anna Lembkes book, Dopamine Nation, explains our brain chemistrys role in modern societys addiction to social media ...
Life sciences/Genetics/Molecular genetics/Genetic material/DNA/Chromosomes/Sex chromosomes/X chromosomes ... A rare gene variant in the X chromosome TLR7 gene is associated with a five times greater risk of severe COVID-19, in study of ... A rare gene variant in the X chromosome TLR7 gene is associated with a five times greater risk of severe COVID-19, in study of ... A rare gene variant in the X chromosome TLR7 gene is associated with a five times greater risk of severe COVID-19, in study of ...
"Our genetic material is tightly packed into thread-like structures called chromosomes and at the ends of the chromosomes are ... The study, published in the journal Cell Metabolism, demonstrates that shortening of telomeres - the ends of the chromosomes - ... Telomeres work like the plastic tips at the end of shoelaces; they prevent chromosomes from unraveling or sticking to each ... play an important role in maintaining cell fitness by affecting many metabolic processes and repairing damaged chromosomes. The ...
Medical Genetics: Chromosome Studies. What are chromosome studies?. Chromosomes are stick-shaped structures in the middle of ... Special tests called chromosome studies can look at chromosomes to see what type of problem a person has. Chromosome studies ... The chromosomes are stained so that they can be seen with a microscope. The chromosomes look like strings with light and dark ... Extended banding chromosome studies. These types of studies are also known as high resolution chromosome studies. These studies ...
Or has anyone had multiple chromosome issue pregnancies and then had healthy babies afterwards?. Thanks! ...
... for patients with Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) in chronic phase (CP), previously treated ... FDA approves asciminib for Philadelphia chromosome-positive chronic myeloid leukemia * Resources for Information , Approved ... for patients with Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) in chronic phase (CP), previously treated ...
CPX chromosome region candidate 1provided by HGNC. Primary source. HGNC:HGNC:2332 See related. Ensembl:ENSG00000147183 MIM: ... CPXCR1 CPX chromosome region candidate 1 [ Homo sapiens (human) ] Gene ID: 53336, updated on 9-Sep-2022 ... This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) ... RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also ...
Microtubule bundles can either push or restrict chromosome movement during anaphase in different cellular contexts, but how ... microtubules from opposite half-spindles form bundles between segregating chromosomes. ... High-resolution imaging reveals how the spindle midzone impacts chromosome movement J Cell Biol. 2019 Aug 5;218(8):2529-2544. ... Chromosome segregation distance and rate are increased in two human cell lines when microtubule bundle assembly is prevented ...
Chromosome Damage and Carciongenesis, Volume 12 - 2nd Edition. Print Book. ISBN 9780080436401 ... Life Sciences: Biodosimetry, Chromosome Damage and Carciongenesis. Holiday Sale. :. Save up to 25% on print and eBooks with ... There are currently no reviews for Life Sciences: Biodosimetry, Chromosome Damage and Carciongenesis ...
The Philadelphia Chromosome as its meant to be heard, narrated by Heather Henderson. Discover the English Audiobook at Audible ... The Philadelphia Chromosome charts the milestones that led to present-day cancer treatment and tells the inspiring story of the ... What did you like most about The Philadelphia Chromosome? it is well written. I know someone who had a bone marrow transfer in ... "The story of the Philadelphia chromosome is truly the story of modern cancer biology. . . . Jessica Wapner stitches the whole ...
Improved knowledge on the genome structure, number of chromosomes in connection with the taxonomical structure of balm is ... 64 chromosomes and triploid 2n = 3× = 48 chromosomes. A haploid base number of × = 16 chromosomes is likely. First time ... Conclusions: A basic chromosome number of x = 16 is reported for the first time for the species M. officinalis. Die wachsende ... Kittler, J., Schrader, O., Kästner, U., & Marthe, F. (2015). Chromosome number and ploidy level of balm (Melissa officinalis). ...
Science News was founded in 1921 as an independent, nonprofit source of accurate information on the latest news of science, medicine and technology. Today, our mission remains the same: to empower people to evaluate the news and the world around them. It is published by the Society for Science, a nonprofit 501(c)(3) membership organization dedicated to public engagement in scientific research and education (EIN 53-0196483).. ...
  • The translocation involved in this condition, written as t(9;22), fuses part of the ABL1 gene from chromosome 9 with part of the BCR gene from chromosome 22, creating an abnormal fusion gene called BCR-ABL1 . (medlineplus.gov)
  • The abnormal chromosome 22, containing a piece of chromosome 9 and the fusion gene, is commonly called the Philadelphia chromosome. (medlineplus.gov)
  • These experiments led to the construction of "gene maps" and proved the chromosome theory of heredity. (britannica.com)
  • Proteins that control gene expression by attaching to specific DNA sequences amble along chromosomes until they hit their targets, according to a single-molecule imaging study. (nature.com)
  • This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. (nih.gov)
  • Angelman syndrome results from a loss of gene activity in a specific part of chromosome 15, the 15q11-q13 region. (bionity.com)
  • This chromosomal change deletes the region of chromosome 15 that includes the UBE3A gene. (bionity.com)
  • Because the copy of the UBE3A gene inherited from a person's father (the paternal copy) is normally inactive in the brain, a deletion in the maternal chromosome 15 results in no active copies of the UBE3A gene in the brain. (bionity.com)
  • People with paternal UPD for chromosome 15 have two copies of the UBE3A gene, but they are both inherited from the father and are therefore inactive in the brain. (bionity.com)
  • About 10% of Angelman syndrome cases are caused by a mutation in the UBE3A gene, and another 3% result from a defect in the DNA region that controls the activation of the UBE3A gene and other genes on the maternal copy of chromosome 15. (bionity.com)
  • We now support 30,000 people with rare chromosome & gene disorders. (rarechromo.org)
  • Sharing for #CarersRightsDay in support of all carers, including those caring for people with rare chromosome & gene disorders, who are so often forgotten. (rarechromo.org)
  • The X chromosome that will be inactivated expresses a long noncoding RNA molecule called Xist that recruits proteins to silence gene expression and to condense the chromosome. (ted.com)
  • For example, the gene for a necessary protein clotting factor is found on the X chromosome. (ted.com)
  • The twin with hemophilia has skewed X-inactivation, so the good copy of the gene is on the inactivated chromosome, whereas the other twin has random X-inactivation and enough good copies of the gene are expressed to allow for normal blood clotting. (ted.com)
  • S . aureus acquires methicillin resistance through a mobile staphylococcal cassette chromosome (SCC) that contains the mecA gene complex (SCC mec ) ( 3 ). (cdc.gov)
  • The technique manipulates the Sry gene, which normally resides on the Y chromosome and causes testes and other masculine features to develop. (ucsf.edu)
  • Human DNA gene sequencing has long been known for Chromosome 8, commonly known as the God Gene for its specific effect on Human Behaviors (see definition in next section). (ethealing.com)
  • The PCR test template (gene sequence) for the "lab test" also is the same as that found on Chromosome 8, and it has also been found in Swabs used to collect nasal cell samples. (ethealing.com)
  • The sex of human and other mammal babies is decided by a male-determining gene on the Y chromosome. (oniscience.com)
  • But the human Y chromosome is degenerating and may disappear in a few million years, leading to our extinction unless we evolve a new sex gene. (oniscience.com)
  • But the Y chromosome packs a punch because it contains an all-important gene that kick-starts male development in the embryo. (oniscience.com)
  • It works by triggering a genetic pathway starting with a gene called SOX9 which is key for male determination in all vertebrates, although it does not lie on sex chromosomes. (oniscience.com)
  • What they discovered was a tiny difference near the key sex gene SOX9, on chromosome 3 of the spiny rat. (oniscience.com)
  • A gene for Meckel syndrome maps to chromosome 11q13. (nature.com)
  • The structural chromosome alterations may arise at the chromosome level (e.g., translocations and gains or losses of large portions of chromosomes) or at the nucleotide level, which influence gene structure or expression such as mutations, insertions, deletions, gene amplifications, and gene silencing by epigenetic effects ( Jefford and Irminger-Finger, 2006 ). (frontiersin.org)
  • Pi-ta is a single copy gene located at the centromere of chromosome 12. (usda.gov)
  • IMSEAR at SEARO: Chromosome aberrations in protein-calorie malnutrition. (who.int)
  • Upadhyaya KC, Verma IC, Ghai OP. Chromosome aberrations in protein-calorie malnutrition. (who.int)
  • Chromosome aberrations as a biological dose-response indicator of radiation exposure in uranium miners. (cdc.gov)
  • The relationship between radiation exposure and chromosome aberrations was studied in uranium miners (SIC-1094). (cdc.gov)
  • The authors conclude that except for dicentrics plus rings the prevalence of chromosome aberrations is a sensitive biological indicator of low level irradiation among uranium miners. (cdc.gov)
  • Amosite at 0.14 and 0.27microg/cm2 induced a significant incidence of chromosome aberrations, mostly chromatid breaks and gaps, in mesothelial cells. (cdc.gov)
  • In human fibroblasts, effective doses for inducing chromosome aberrations were 2.67 and 6.67microg/cm2. (cdc.gov)
  • In passage experiments, amosite and glass fibers induced chromosome aberrations. (cdc.gov)
  • The authors conclude that amosite and glass fibers induce chromosome aberrations in human pleural mesothelial cells. (cdc.gov)
  • Major chromosome abnormalities are present in 0.65% of all neonates. (who.int)
  • FISH can be used to find chromosome abnormalities that may not show up in an extended banding chromosome study. (uhhospitals.org)
  • Since then, the field of cytogenetics-linking chromosome abnormalities with syndromes-has proceeded more or less in fits and starts, with key developments in chromosome preparation explaining more and more once mysterious medical conditions. (the-scientist.com)
  • Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities during pregnancy, according to a study by researchers at the National Institutes of Health and other institutions. (nih.gov)
  • This arrest is caused by an abnormal expression of genes, often as a result of chromosomal translocations or abnormalities of chromosome number. (medscape.com)
  • Humans normally have 46 chromosomes (23 pairs) in each cell. (medlineplus.gov)
  • Dresden and Leipzig researchers find that stem cells in the developing brain of modern humans take longer to divide and make fewer errors when distributing their chromosomes to their daughter cells, compared to those of Neanderthals. (news-medical.net)
  • Chromosome 15 is one of the 23 pairs of chromosomes in humans. (bionity.com)
  • I Technically, these chromosomes could be any of the 22 pairs of chromosomes (out of 23 pairs humans have). (sciencejewelry1824.shop)
  • In turn, this must mean the Y chromosome has lost 900-55 active genes over the 166 million years that humans and platypus have been evolving separately. (oniscience.com)
  • Diploid organisms, such as humans, have chromosomes that come in homologous pairs (except for the sex chromosomes), with each parent contributing one chromosome per homologous pair. (maplesoft.com)
  • Physicians, genetic counselors, therapists and other healthcare professionals, register now to help us learn more about rare chromosome disorders: the associated symptoms, new research and evolving treatments. (chromodisorder.org)
  • All medical information is held strictly confidential and helps researchers learn more about rare chromosome disorders. (chromodisorder.org)
  • The ends of chromosomes are marked with DNA sequences called telomeres. (giantmicrobes.com)
  • Chromosome length assembly sequences were aligned to the genomes of related species to reveal corresponding chromosomes. (researchgate.net)
  • Recently published research papers are now demonstrating how Human cells can rewrite RNA sequences into DNA Chromosomes. (ethealing.com)
  • Nearly 90% of sequences were anchored to 100 chromosomes , which represents the high-quality crustacean genome with the largest number of chromosomes ever reported. (bvsalud.org)
  • Key protocols for chromosome-level genome assembly of the Scapharca (Anadara) broughtonii. (protocols.io)
  • Chromosomes are threadlike structures inside of cells that store genetic information. (giantmicrobes.com)
  • Our genetic material is tightly packed into thread-like structures called chromosomes and at the ends of the chromosomes are particular pieces of DNA called telomeres. (bcm.edu)
  • Chromosomes are stick-shaped structures in the middle of each cell in the body. (uhhospitals.org)
  • Telomeres are structures at the ends of chromosomes that contain repetitive stretches of DNA. (cdc.gov)
  • Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. (medlineplus.gov)
  • In most cases (about 70%), people with Angelman syndrome have a deletion in the maternal copy of chromosome 15. (bionity.com)
  • Trisomy 16 is a type of chromosomal condition that happens when a fetus has an extra copy of chromosome 16 - three copies instead of two. (whattoexpect.com)
  • A fetus with full trisomy 16 has an extra copy of chromosome 16 in every cell of the body. (whattoexpect.com)
  • This test is another way to look for changes in chromosomes. (uhhospitals.org)
  • As a major form of genomic instability, chromosomal instability comprises aberrant chromosome numbers (i.e., aneuploidy or polyploidy) and structural changes in chromosomes. (frontiersin.org)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 22. (medlineplus.gov)
  • MukB also interacts with the ParC subunit of the cellular chromosomal decatenase topoisomerase IV, an interaction that is required for proper chromosome condensation and segregation in Escherichia coli , although it suppresses the MukB ATPase activity. (jbc.org)
  • The researchers applied a method called 'Hi-C' (High-throughput Chromosome Conformation Capture) to samples from patients with developmental disorders suspected to be caused by chromosomal rearrangements. (mpg.de)
  • The classical analysis of chromosomal defects is done by a karyogram, which is a microscopic view of stained chromosomes. (mpg.de)
  • In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. (medlineplus.gov)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • Researchers believe that several critical genes near the end of the q arm of chromosome 22 are lost when the ring chromosome 22 forms. (medlineplus.gov)
  • Researchers are working to identify genes on chromosome 15 that are responsible for the characteristic features of Prader-Willi syndrome. (bionity.com)
  • Since the 1 920s, when researchers began to study chromosomes, the analysis of human chromosomes has presented a particularly tough technological challenge, simply because there are so many of them. (the-scientist.com)
  • For each, researchers calculated a normalized chromosome denominator quality (NCDQ), which measures the likelihood that a sample has the standard two copies of each chromosome. (nih.gov)
  • The researchers gave experimental mice four different combinations of chromosomes and gonads: the two found in nature - XX with ovaries and XY with testes - and two others created in the laboratory - XX testes and XY ovaries. (ucsf.edu)
  • The researchers found that having both female sex chromosomes and female gonads extended life in mice that were 12 to 30 months old, the mouse equivalent of midlife to old age. (ucsf.edu)
  • Help us in our efforts to raise awareness of rare chromosome disorders by visiting our online store. (chromodisorder.org)
  • Rare Chromosome Disorder Support Group. (rarechromo.org)
  • There are twenty-two pairs of chromosomes which are referred to as autosomes, because they do not determine the sex of an individual. (ntsad.org)
  • Cytogenetics is the study of chromosomes. (uhhospitals.org)
  • In other circumstances, the testing method was neither germline or somatic, but used other means for identifying genetic risk (e.g., family history), or diagnosis, including biomarkers (objective measures of a biological state or condition within cells or organisms) and cytogenetics (the study of chromosomes and their inheritance). (cdc.gov)
  • The deletion occurs near the middle of the chromosome at a location designated as q11.2. (medlineplus.gov)
  • 22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, is caused by a deletion near the end of the long (q) arm of chromosome 22. (medlineplus.gov)
  • A ring chromosome 22 can also cause 22q13.3 deletion syndrome. (medlineplus.gov)
  • If the break point on the long arm is at chromosome position 22q13.3, people with ring chromosome 22 will experience similar signs and symptoms as those with a simple deletion. (medlineplus.gov)
  • The signs and symptoms of 22q13.3 deletion syndrome are probably related to the loss of multiple genes at the end of chromosome 22. (medlineplus.gov)
  • Therefore, a person with a deletion in the paternal chromosome 15 will have no active genes in this region. (bionity.com)
  • A boy with 13.34-Mb interstitial deletion of chromosome 4p15. (lww.com)
  • Telomeres are end-cap DNA repeat motifs (TTAGGG) n located at the termini of linear mammalian chromosomes, recently reviewed by Tomkins and Bergman. (creation.com)
  • A colchicine, hypotonic citrate, squash sequence for mammalian chromosomes. (cdc.gov)
  • Karyotyping is a way of looking at the set of chromosomes a person has. (uhhospitals.org)
  • CMA can find chromosome problems with more detail than karyotyping or FISH. (uhhospitals.org)
  • In other words, the linkage maps of the chromosomes are really summaries of many statistical observations on the outcomes of hybridization experiments. (britannica.com)
  • Chromosome staining and hybridization techniques do not provide detailed DNA sequence information, but rather indicate putative areas of homology. (creation.com)
  • People with ring chromosome 22 have one copy of this abnormal chromosome in some or all of their cells. (medlineplus.gov)
  • Most embryos stop developing and perish within days of fertilization, usually because they have an abnormal number of chromosomes. (news-medical.net)
  • When a chromosome is abnormal, it can cause health problems in the body. (uhhospitals.org)
  • The study can look for abnormal amounts or shapes of chromosomes. (uhhospitals.org)
  • these abnormal chromosomes are often observed in cancer cells. (cdc.gov)
  • The advent of high-throughput DNA sequencing and its accompanying technologies has largely replaced these earlier technologies for comparing both chromosomes and genomes. (creation.com)
  • DNA, chromosomes, and genomes. (khanacademy.org)
  • This chromosome -scale genome would be a valuable reference for assemblies of other complex genomes and studies of evolution in crustaceans. (bvsalud.org)
  • Chromosome 22 likely contains 500 to 600 genes that provide instructions for making proteins. (medlineplus.gov)
  • When other proteins are bound to the chromosome, they act like roadblocks and slow the search. (nature.com)
  • It is likely that MukBEF compacts DNA via an ATP hydrolysis-dependent DNA loop-extrusion reaction similar to that demonstrated for the yeast structural maintenance of chromosome proteins condensin and cohesin. (jbc.org)
  • X-inactivation has been visualized using genes for fluorescent proteins that were inserted into the two copies of the X chromosome in mice. (ted.com)
  • AVR-Pita is a metalloprotease located near the teleometric region of chromosome 3 of M. grisea. (usda.gov)
  • The data actually suggest that the core ~800 bp region containing the fusion site is not a unique cryptic and degenerate head-to-head fusion of telomeres, but a distinct motif that is represented throughout the human genome with no orthologous counterpart in the chimpanzee genome on either chromosome 2A or 2B. (creation.com)
  • The study, published in the journal Cell Metabolism , demonstrates that shortening of telomeres - the ends of the chromosomes - impairs a class of enzymes called sirtuins, which play an important role in maintaining cell fitness by affecting many metabolic processes and repairing damaged chromosomes. (bcm.edu)
  • Donate now to increase awareness and research into chromosome disorders. (chromodisorder.org)
  • We will also look at brain changes and development in people with different developmental disorders, including sex chromosome variations. (nih.gov)
  • A haploid base number of × = 16 chromosomes is likely. (mendeley.com)
  • Homologous chromosomes, sister chromatids, and haploid/diploid. (khanacademy.org)
  • Our analysis of the available genomic data shows that the sequence features encompassing the purported chromosome 2 fusion site are too ambiguous to accurately infer a fusion event. (creation.com)
  • While the chromosome 2 fusion model has been routinely discussed in reviews of human evolution, very little new supporting genomic data, although readily available for analysis, has been forthcoming. (creation.com)
  • Sometimes cleaved chromosomes do not recover and genomic stability is compromised - which in the long run might promote cancer. (news-medical.net)
  • Because of the way data have been analyzed, typical genomic tests performed during pregnancy have targeted extra copies of chromosomes 21, 18 and 13, but rarely evaluated all 24 chromosomes. (nih.gov)
  • To provide better genomic resources , we assembled a chromosome -level genome with a size of 5.26 Gb and contig N50 of 144.33 kb. (bvsalud.org)
  • In 3% to 7% of cases, Angelman syndrome occurs when a person has two copies of the paternal chromosome 15 instead of one copy from each parent. (bionity.com)
  • In about 70% of cases, Prader-Willi syndrome occurs when the 15q11-q13 region of the paternal chromosome 15 is deleted. (bionity.com)
  • The specific X chromosome that is inactivated is somewhat random in each cell, but it can also be skewed towards the maternal or paternal chromosome. (ted.com)
  • Chromosome 22 is the second smallest human chromosome, spanning more than 51 million DNA building blocks (base pairs) and representing between 1.5 and 2 percent of the total DNA in cells. (medlineplus.gov)
  • A rearrangement (translocation) of genetic material between chromosomes 9 and 22 causes a type of cancer of blood-forming cells called chronic myeloid leukemia. (medlineplus.gov)
  • We have developed an antibody to study its pattern of expression and observed that SSTY is specifically express in differentiating germ cells where it colocalizes with the sex chromosomes. (europa.eu)
  • Most human cells have two pairs of 23 chromosomes, one pair from your mother and the other from your father, for a total of 46 chromosomes. (giantmicrobes.com)
  • research group led by Dr. Soichi Sano, a specially appointed lecturer in the Department of Cardiovascular Medicine, Graduate School of Medicine, Osaka Metropolitan University, revealed that men with hematopoietic mosaic loss of Y chromosome (mLOY) - meaning men with an increase, in the blood, of cells that have lost the male sex chromosome - have a worse prognosis for heart failure due to fibrosis progression in the heart. (news-medical.net)
  • The cells in the sample are stained with fluorescent dyes that will only attach to certain parts of chromosomes. (uhhospitals.org)
  • Here, we use high-resolution live-cell imaging to analyze individual microtubule bundles, growing filaments, and chromosome movement in dividing human cells. (nih.gov)
  • We propose that microtubule overlap length reduction, typically linked to pushing forces generated within filament bundles, is needed to properly restrict spindle elongation and position chromosomes within daughter cells. (nih.gov)
  • Chromosome 15 spans about 106 million base pairs (the building material of DNA ) and represents between 3% and 3.5% of the total DNA in cells . (bionity.com)
  • Mosaic trisomy 16 is a rare variation that occurs when a fetus has an extra copy of the chromosome 16 in some cells of the body, but not every cell. (whattoexpect.com)
  • This led to dramatic images that showed clusters of cells that all expressed one chromosome or a random distribution of cells, as explained in this blog . (ted.com)
  • However, in someone with two X chromosomes, who inherited one copy of the mutation, they may have hemophilia, or not, depending on which X chromosome is inactivated in the cells that produce this clotting factor. (ted.com)
  • Cobalt Borate Neodecanoate Complex: In Vitro Mammalian Chromosome Aberration Test in Chinese Hamster Ovary Cells. (epa.gov)
  • Cobalt Naphthenate: In Vitro Mammalian Chromosome Aberration Test in Chinese Hamster Ovary Cells. (epa.gov)
  • H-26232: In Vitro Mammalian Chromosome Aberration Test in Chinese Hamster Ovary Cells. (epa.gov)
  • In Vitro Chromosome Aberration Study Performed on the Huntsman Product FAT 40'162/B Reported a Clastogenic Effect on Cultured Chinese Hamster V79 Cells. (epa.gov)
  • In Vitro Chromosome Aberration Test in Chinese Hamster Ovary (CHO-WBL) Cells. (epa.gov)
  • Usually the total chromosome count was determined in 10-15 cells, but if mosaicism was suspected then 30 or more cell counts were undertaken [10]. (who.int)
  • Altered cells had a modal chromosome number of 45 and lacked the Y- chromosome. (cdc.gov)
  • [ 6 ] A majority of these tumors will exhibit polysomy of the epidermal growth factor receptor ( EGFR ) genetic locus on chromosome 7 in subsets of tumor cells. (medscape.com)
  • Two copies of chromosome 22, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • The duplication affects one of the two copies of chromosome 22 in each cell. (medlineplus.gov)
  • People normally have two copies of this chromosome. (bionity.com)
  • The following conditions are caused by changes in the structure or number of copies of chromosome 15. (bionity.com)
  • People normally have two copies of this chromosome in each cell, one copy from each parent. (bionity.com)
  • Conceptual image of a cell karyotype exhibiting trisomy, three copies of one chromosome. (nih.gov)
  • While all DNA is stained blue, a specific sequence stained pink appears duplicated in one of the two copies of chromosome 17, but not the other. (mpg.de)
  • A region of a chromosome that contains multiple copies of a core DNA sequence that are arranged in a repeating fashion. (flashcardmachine.com)
  • In addition, no ortholog for a cryptic centromere homologous to the alphoid sequence at human chromosome 2 exists on chimpanzee chromosomes 2A and 2B. (creation.com)
  • Each chromosome in a given homologous pair represents the same genes, but with different expressions (called alleles ) of those genes. (maplesoft.com)
  • Within bundles, filament overlap length marked by the cross-linking protein PRC1 decreases during anaphase as chromosome segregation slows. (nih.gov)
  • Chromosome segregation distance and rate are increased in two human cell lines when microtubule bundle assembly is prevented via PRC1 knockdown. (nih.gov)
  • Variations of trisomy 16 - called 16p or 16q - can also occur when every cell in a fetus's body has changes to part, but not all, of a chromosome. (whattoexpect.com)
  • A trisomy is a condition in which there are three instances of a certain chromosome instead of the standard two. (nih.gov)
  • A fragment of a chromosome (one of the microscopically visible carriers of the genetic material DNA) that is lacking a centromere (the "waist" of the chromosome essential for the division and the retention of the chromosome in the cell) and so is lost when the cell divides. (medicinenet.com)
  • The DNA sequence evidence for a purported inactivated cryptic centromere site on chromosome 2, supposedly composed of centromeric alphoid repeats, is even more ambiguous and untenable than the case for a fusion site. (creation.com)
  • The chapter also describes a basic image analysis procedure for plant chromosomes to obtain the density distribution of a chromatid, or condensation pattern, as an example of digital chromosome image analysis. (taylorfrancis.com)
  • These are like plastic tips at the ends of shoelaces, protecting chromosomes from fraying and degenerating. (giantmicrobes.com)
  • Instead, noninvasive prenatal testing (NIPT) that looks at chromosome 16 in placental DNA may detect an issue. (whattoexpect.com)
  • Chromosome staining used to achieve visible banding markers yields information related to GC base content, repeat content, CpG island density, and degree of condensation over large areas rather than specific sequence homology. (creation.com)
  • Chromosomes are analyzed by healthcare providers trained in cytogenetic technology and genetics. (uhhospitals.org)
  • On October 29, 2021, the Food and Drug Administration granted accelerated approval to asciminib (Scemblix, Novartis AG) for patients with Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) in chronic phase (CP), previously treated with two or more tyrosine kinase inhibitors (TKIs), and approved asciminib for adult patients with Ph+ CML in CP with the T315I mutation. (fda.gov)
  • Retrieved from https://www.hematology.org/education/clinicians/drug-resources/fda-alerts/2021/fda-approves-asciminib-for-philadelphia-chromosome-positive-chronic-myeloid-leukemia . (hematology.org)
  • 22q11.2 duplication is caused by an extra copy of some genetic material at position q11.2 on chromosome 22. (medlineplus.gov)
  • For example, children with Down syndrome can be born with a heart defect and Down syndrome is a genetic condition in which children have extra genetic material known as chromosome number 21 in every cell of their body, and it's thought that this extra genetic material causes the infant's heart not to develop normally during the pregnancy. (cdc.gov)
  • A ring chromosome is a circular structure that occurs when a chromosome breaks in two places, the tips of the chromosome are lost, and the broken ends fuse together. (medlineplus.gov)
  • All "Vaccine" Injections contain the spiked protein which has the same sequencing (coding) as Chromosome 8, VMAT2. (ethealing.com)
  • In mice and men, sperm differentiation requires a high proportion of genes located on the sex chromosomes (i.e. the X and the Y). Expression of these genes is tightly controlled by epigenetic processes which remain to be studied. (europa.eu)
  • Prader-Willi syndrome is caused by the loss of active genes in a specific part of chromosome 15, the 15q11-q13 region. (bionity.com)
  • Extending our analysis to all chromosomes allowed us to identify risk for serious complications and potentially reduce false-positive results for Down syndrome and other genetic conditions," said Diana W. Bianchi, M.D., senior author of the study and chief of the Prenatal Genomics and Therapy Section at NIH's National Human Genome Research Institute (NHGRI). (nih.gov)
  • A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24. (nature.com)
  • Pentasomy of the x chromosome is a rare syndrome of unknown incidence and there are few reports in the scientific literature, especially in terms of dental care for patients with this syndrome. (bvsalud.org)
  • A karyotype is a single person's set of chromosomes. (uhhospitals.org)
  • Key to connecting chromosomes to symptoms and traits is the karyotype, a size-order alignment of chromosome pairs in a chart. (the-scientist.com)
  • Conclusions: A basic chromosome number of x = 16 is reported for the first time for the species M. officinalis. (mendeley.com)
  • The mole voles of eastern Europe and the spiny rats of Japan each boast some species in which the Y chromosome, and SRY, have completely disappeared. (oniscience.com)
  • DNA is so tightly wound in each chromosome that the entire human genetic code of 3 billion base pairs fits in an area of just 6 microns, 10 times smaller than the diameter of hair! (giantmicrobes.com)
  • For these reasons, it wasn't until 1956 that the correct number of 46 human chromosomes (23 pairs) was clearly demonstrated. (the-scientist.com)
  • Chromosome studies are usually done from a small sample of tissue from a person's body. (uhhospitals.org)
  • Chromosome Disorder Outreach is asked frequently how to learn more about the genes associated with human diseases involved in any chromosome disorder. (chromodisorder.org)
  • Chromosome Disorder Outreach is a 501(c)(3) non-profit organization. (chromodisorder.org)
  • Of 57 children with a medical condition, 54 percent had a neurological disorder, 30 percent had pulmonary disease, 25 percent had a chromosome or genetic disorder and 19 percent had congenital heart disease or other cardiac disease. (cdc.gov)
  • Chromosomes stained with fluorescence dyes under the microscope. (mpg.de)
  • In the spindle midzone, microtubules from opposite half-spindles form bundles between segregating chromosomes. (nih.gov)
  • Within organisms , genetic information generally is carried in chromosomes , where it is represented in the chemical structure of particular DNA molecules . (wikipedia.org)
  • MukBEF, a structural maintenance of chromosome-like protein complex consisting of an ATPase, MukB, and two interacting subunits, MukE and MukF, functions as the bacterial condensin. (jbc.org)
  • MukB is a structural maintenance of chromosome-like protein required for DNA condensation. (jbc.org)
  • Human Chromosome Explorer™ (HCE) is an advanced, cloud-based, whole genome map assembly and structural variation (SV) analysis software for Bionano Genomics and Nabsys HD-mapping platforms. (structuralvariation.bio)