Centromere: The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Chromosome Banding: Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Chromosome Segregation: The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.Centromere Protein B: A DNA-binding protein that interacts with a 17-base pair sequence known as the CENP-B box motif. The protein is localized constitutively to the CENTROMERE and plays an important role in its maintenance.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Sex Chromosomes: The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)Chromosomes, Human: Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Fungal: Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Plant: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.Chromosomes, Bacterial: Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosome Deletion: Actual loss of portion of a chromosome.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosome Pairing: The alignment of CHROMOSOMES at homologous sequences.Chromosomes, Human, Pair 9: A specific pair of GROUP C CHROMSOMES of the human chromosome classification.Chromosomal Proteins, Non-Histone: Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Chromosomes, Human, 6-12 and X: The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.Chromosomes, Mammalian: Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.Kinetochores: Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.Chromosomes, Human, Pair 16: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 10: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Artificial, Bacterial: DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosome Painting: A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Karyotyping: Mapping of the KARYOTYPE of a cell.Chromosomes, Human, Pair 19: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, 1-3: The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Mitosis: A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Chromosomes, Artificial, Yeast: Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, 16-18: The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.Chromosomes, Human, Pair 20: A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.Meiosis: A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Chromosome Breakage: A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Chromosome Positioning: The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Metaphase: The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.Chromosomes, Human, 21-22 and Y: The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.Chromosome Inversion: An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.DNA, Satellite: Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.Chromosomes, Artificial, Human: DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.Chromosome Structures: Structures which are contained in or part of CHROMOSOMES.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Aneuploidy: The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).X Chromosome Inactivation: A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Chromosomes, Insect: Structures within the CELL NUCLEUS of insect cells containing DNA.Hybrid Cells: Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.Spindle Apparatus: A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.Chromatids: Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Chromosomes, Human, 19-20: The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.Nondisjunction, Genetic: The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Telomere: A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Chromatin: The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Cell Cycle Proteins: Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.Histones: Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Saccharomyces cerevisiae: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Repetitive Sequences, Nucleic Acid: Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).Autoantigens: Endogenous tissue constituents that have the ability to interact with AUTOANTIBODIES and cause an immune response.DNA, Fungal: Deoxyribonucleic acid that makes up the genetic material of fungi.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Prophase: The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.Schizosaccharomyces: A genus of ascomycetous fungi of the family Schizosaccharomycetaceae, order Schizosaccharomycetales.Chromosomal Instability: An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.Interphase: The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Nucleic Acid Hybridization: Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Chromosome Walking: A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.Aurora Kinase B: An aurora kinase that is a component of the chromosomal passenger protein complex and is involved in the regulation of MITOSIS. It mediates proper CHROMOSOME SEGREGATION and contractile ring function during CYTOKINESIS.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Nuclear Proteins: Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.Aurora Kinases: A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Plasmids: Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Heterochromatin: The portion of chromosome material that remains condensed and is transcriptionally inactive during INTERPHASE.DNA Probes: Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Spermatocytes: Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.Schizosaccharomyces pombe Proteins: Proteins obtained from the species Schizosaccharomyces pombe. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.Saccharomyces cerevisiae Proteins: Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Polyploidy: The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.DNA Replication: The process by which a DNA molecule is duplicated.Meiotic Prophase I: The prophase of the first division of MEIOSIS (in which homologous CHROMOSOME SEGREGATION occurs). It is divided into five stages: leptonema, zygonema, PACHYNEMA, diplonema, and diakinesis.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Microtubules: Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Muntjacs: A genus, Muntiacus, of the deer family (Cervidae) comprising six species living in China, Tibet, Nepal, India, the Malay Peninsula, and neighboring island countries. They are usually found in forests and areas of dense vegetation, usually not far from water. They emit a deep barklike sound which gives them the name "barking deer." If they sense a predator they will "bark" for an hour or more. They are hunted for their meat and skins; they thrive in captivity and are found in many zoos. The Indian muntjac is believed to have the lowest chromosome number in mammals and cell lines derived from them figure widely in chromosome and DNA studies. (From Walker's Mammals of the World, 5th ed., p1366)Chromosome Fragility: Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.Euchromatin: Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.Chromosome Duplication: An aberration in which an extra chromosome or a chromosomal segment is made.Cell Nucleus: Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.Cytogenetics: A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.Abnormalities, MultipleGenetic Variation: Genotypic differences observed among individuals in a population.Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)Sister Chromatid Exchange: An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.Cytogenetic Analysis: Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Sequence Homology, Nucleic Acid: The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.Isochromosomes: Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Contig Mapping: Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.HeLa Cells: The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.Fungal Proteins: Proteins found in any species of fungus.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Genes, Fungal: The functional hereditary units of FUNGI.Anaphase: The phase of cell nucleus division following METAPHASE, in which the CHROMATIDS separate and migrate to opposite poles of the spindle.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Drosophila: A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.Cosmids: Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.Sequence Tagged Sites: Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.Cell Cycle: The complex series of phenomena, occurring between the end of one CELL DIVISION and the end of the next, by which cellular material is duplicated and then divided between two daughter cells. The cell cycle includes INTERPHASE, which includes G0 PHASE; G1 PHASE; S PHASE; and G2 PHASE, and CELL DIVISION PHASE.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Polytene Chromosomes: Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Ploidies: The degree of replication of the chromosome set in the karyotype.Gene Duplication: Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.Retroelements: Elements that are transcribed into RNA, reverse-transcribed into DNA and then inserted into a new site in the genome. Long terminal repeats (LTRs) similar to those from retroviruses are contained in retrotransposons and retrovirus-like elements. Retroposons, such as LONG INTERSPERSED NUCLEOTIDE ELEMENTS and SHORT INTERSPERSED NUCLEOTIDE ELEMENTS do not contain LTRs.Zea mays: A plant species of the family POACEAE. It is a tall grass grown for its EDIBLE GRAIN, corn, used as food and animal FODDER.Karyotype: The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Drosophila Proteins: Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Chromosome Fragile Sites: Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Sex Chromosome Disorders: Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).Pachytene Stage: The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.Genes, X-Linked: Genes that are located on the X CHROMOSOME.Nucleosomes: The repeating structural units of chromatin, each consisting of approximately 200 base pairs of DNA wound around a protein core. This core is composed of the histones H2A, H2B, H3, and H4.Saccharomycetales: An order of fungi in the phylum Ascomycota that multiply by budding. They include the telomorphic ascomycetous yeasts which are found in a very wide range of habitats.Gene Amplification: A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.Homozygote: An individual in which both alleles at a given locus are identical.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Protein-Serine-Threonine Kinases: A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.DNA Restriction Enzymes: Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.Microscopy, Fluorescence: Microscopy of specimens stained with fluorescent dye (usually fluorescein isothiocyanate) or of naturally fluorescent materials, which emit light when exposed to ultraviolet or blue light. Immunofluorescence microscopy utilizes antibodies that are labeled with fluorescent dye.Tandem Repeat Sequences: Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).Multiprotein Complexes: Macromolecular complexes formed from the association of defined protein subunits.Philadelphia Chromosome: An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
Homologous chromosomes are made up of chromosome pairs of approximately the same length, centromere position, and staining ... So humans have two homologous chromosome sets in each cell, meaning humans are diploid organisms. Homologous chromosomes are ... The additional 23rd pair is the sex chromosomes, X and Y. If this pair is made up of an X and Y chromosome, then the pair of ... Therefore, when two chromosomes of the exact structure exist, they are able to pair together to form homologous chromosomes. ...
There exist three copies of this human region on the chimpanzee Y chromosome with two surrounding the Y chromosome centromere ... The ampliconic genes evolve faster than their autosomal counterparts. In fact, they even evolve faster than single-copy genes ... 3] Following formation of segmental duplications, forces of evolution such as base-pair substitutions, insertions, deletions, ... 4] On the human Y chromosome as well as other primate Y chromosomes, the pericentromeric and subtelomeric regions are the most ...
Autosomal traits are associated with a single gene on an autosome (non-sex chromosome)-they are called "dominant" because a ... A karyotype is picture of all the chromosomes in the metaphase stage arranged according to length and centromere position. A ... the sex of an individual is determined by a pair of sex chromosomes (gonosomes). Females have two of the same kind of sex ... The human genome is the total collection of genes in a human being contained in the human chromosome, composed of over three ...
Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... acen Centromere. var: Variable region; stalk: Stalk. Gilbert F (1998). "Disease genes and chromosomes: disease maps of the ... autosomal recessive) (17q25.1) CANT1: Calcium-activated nucleotidase 1 (17q25.3) BIRC5: Survivin (17q25.3) CHMP6: Charged ... See also: Category:Genes on human chromosome 17. The following is a partial list of genes on human chromosome 17. For complete ...
Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 ... acen Centromere. var: Variable region; stalk: Stalk. Gilbert F (2001). "Chromosome 8". Genet Test. 5 (4): 345-54. doi:10.1089/ ... primary autosomal recessive 1 MIR6850 encoding protein MicroRNA 6850 MRPL13 encoding protein Mitochondrial ribosomal protein ... See also: Category:Genes on human chromosome 8. The following is a partial list of genes on human chromosome 8. For complete ...
Chromosome 21 is one of the 23 pairs of chromosomes in humans. Chromosome 21 is the smallest human autosome, with 48 million ... acen Centromere. var: Variable region; stalk: Stalk. Antonarakis SE, Lyle R, Dermitzakis ET, Reymond A, Deutsch S (2004). " ... "APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy". Nature ... Chromosome 21 was the second human chromosome to be fully sequenced, after chromosome 22. The following are some of the gene ...
For example, diploid human cells contain 23 pairs of chromosomes including 1 pair of sex chromosomes (46 total), half of ... Pairing is brought about in a zipper-like fashion and may start at the centromere (procentric), at the chromosome ends ( ... Hassold, T.; Jacobs, P.; Kline, J.; Stein, Z.; Warburton, D. (July 1980). "Effect of maternal age on autosomal trisomies". ... Thus pairing is highly specific and exact. The paired chromosomes are called bivalent or tetrad chromosomes. The pachytene ( ...
Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 ... acen Centromere. var: Variable region; stalk: Stalk. "Chromosome 6 Project - Chromosome 6 Research Project". Chromosome 6 ... autosomal recessive) (6p21.2-p12) PRICKLE4: prickle planar cell polarity protein 4 (6p21.1) PRSS16: protease, serine 16 (6p22.1 ... See also: Category:Genes on human chromosome 6. The following is a partial list of genes on human chromosome 6. For complete ...
The X chromosome in humans spans more than 153 million base pairs (the building material of DNA). It represents about 800 ... 2005 and Ohno 1967 that the X chromosome is at least partially derived from the autosomal (non-sex-related) genome of other ... acen Centromere. var: Variable region; stalk: Stalk. National Institutes of Health. "X chromosome". Genetics Home Reference. ... Each person usually has one pair of sex chromosomes in each cell. Females have two X chromosomes, whereas males have one X and ...
... and a vestigial centromere. As other non-human extant hominidae have 48 chromosomes it is believed that the human chromosome 2 ... 7 autosomal pairs and ZW sex-determination pair.[25] [25] Welsh onion. (Allium Fistulosum) 16 [26] ... chromosomes. Males have XY sex chromosomes and females have XX sex chromosomes. The sex chromosomes are the largest chromosomes ... Shared synteny of human chromosome 17 loci in Canids. *An atlas of the chromosome numbers in animals (1951); PDF downloads of ...
Since canine chromosome 13 is similar to human chromosome 8q, research could provide insight to treatment for prostate cancer ... Chromosome 17 polysomy may not be present when the centromere is amplified, so it was later discovered that polysomy 17 is rare ... Polysomy is usually caused by non-disjunction (the failure of a pair of homologous chromosomes to separate) during meiosis, but ... RFLP also aids in the identification of the Huntingtin (HTT) gene which is predictive of an adult-onset autosomal disorder ...
G-banding ideogram of human chromosome 1 in resolution 850 bphs. Band length in this diagram is proportional to base-pair ... Hypertrophic cardiomyopathy, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be ... acen Centromere. var: Variable region; stalk: Stalk. ... Chromosome 1. Human chromosome 1 pair after G-banding. One is ... Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... acen Centromere. var: Variable region; stalk: Stalk. ... Autosomal dominant polycystic kidney disease (PKD-1). *Batten ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ... "Chromosome 16". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 16". Human Genome Project Information Archive ...
The DNA in the human Y chromosome is composed of about 59 million base pairs. The Y chromosome is passed only from father to ... diploid organisms contain two copies of autosomal chromosomes while only half the population contains 1 Y chromosome. Thus, ... acen Centromere. var: Variable region; stalk: Stalk. Genetic Genealogy: About the use of mtDNA and Y chromosome analysis in ... Stevens proposed that chromosomes always existed in pairs and that the Y chromosome was the pair of the X chromosome discovered ...
Humans have one pair fewer chromosomes than the great apes. Human chromosome 2 appears to have resulted from the fusion of two ... the human Y chromosome is also acrocentric). The fundamental autosomal number or autosomal fundamental number, FNa[38] or AN,[ ... in pairs, ordered by size and position of centromere for chromosomes of the same size. ... The karyotype of humans includes only 46 chromosomes.[15][16] The great apes have 48 chromosomes. Human chromosome 2 is now ...
Werner syndrome (WS) is a rare autosomal recessive disorder.[9][10] It has a global incidence rate of less than 1 in 100,000 ... Cells of affected individuals have reduced lifespan in culture,[18] more chromosome breaks and translocations[19] and extensive ... Navarro, CL; Cau, P; Lévy, N (2006). "Molecular bases of progeroid syndromes". Human Molecular Genetics. 15 Spec No 2: R151-61 ... leading to the last 150 base pairs of that exon, and consequently, the 50 amino acids near the C-terminus, being deleted.[64] ...
... by an extra chromosome pair because of the fission of domestic horse chromosome 5 to produce the Przewalski's horse chromosomes ... "Phylogeny of Horse Chromosome 5q in the Genus Equus and Centromere Repositioning". Cytogenetic and Genome Research. 126: 165- ... A population introduced in 1998 exists in the Chernobyl Exclusion Zone protected from interference by humans, and is thought to ... "Horse Domestication and Conservation Genetics of Przewalski's Horse Inferred from Sex Chromosomal and Autosomal Sequences". Mol ...
This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.. *v ... 2010). "The immunodominant epitope of centromere-associated protein A displays homology with the transcription factor forkhead ... "FOXE3 plays a significant role in autosomal recessive microphthalmia". Am. J. Med. Genet. A. 152A (3): 582-90. doi:10.1002/ ... is a protein that in humans is encoded by the FOXE3 gene located on the short arm of chromosome 1.[3] ...
An entire chromosome has attached to another at the centromere - in humans these only occur with chromosomes 13, 14, 15, 21, ... and occurs when an individual either is missing a chromosome from a pair (monosomy) or has more than two chromosomes of a pair ... It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. Chromosome mutation ... Known disorders in humans include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome ...
Mutations inherited through the chromosomes can be autosomal dominant or recessive and can also be sex-linked dominant or ... In humans, mitochondrial DNA (mtDNA) forms closed circular molecules that contain 16,569[2][3] DNA base pairs,[4] with each ... Polytene chromosome. *Dinoflagellate chromosomes. *Homologous chromosome. *Isochromosome. *Satellite chromosome. *Centromere ... Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA (the DNA contained in human mitochondria ...
... more than 1 million pairs), Sweden (61,000 pairs), Finland (39,000 pairs) and Norway (14,000 pairs). Although it also breeds ... The 4.5 Mb inversion covers 90 genes, one of them is the centromere coding gene N- CENPN-, which is located exactly at one of ... In 2016, two studies further pinpointed the responsible region to chromosome 11 and a 4.5-Mb covering chromosomal rearrangement ... "Testosterone-induced male traits in female ruffs (Philomachus pugnax): autosomal inheritance and gender differentiation" (PDF) ...
Inner centromere protein is a protein that in humans is encoded by the INCENP gene.[5][6][7] In mammalian cells, two broad groups of centromere-interacting proteins have been described: constitutively binding centromere proteins and 'passenger' (or transiently interacting) proteins.[8] The constitutive proteins include CENPA (centromere protein A), CENPB, CENPC1, and CENPD. The term 'passenger proteins' encompasses a broad collection of proteins that localize to the centromere during specific stages of the cell cycle.[9] These include CENPE; MCAK; KID; cytoplasmic dynein (e.g., DYNC1H1); CliPs (e.g. CLIP1); and CENPF/mitosin (CENPF). The inner centromere proteins (INCENPs),[5] the initial members of the passenger protein group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at ...
The centromere is a special region of a chromosome, usually near the middle. It is where the two identical sister chromatids stay in contact as the chromosome attaches to the spindle in mitosis. The region contains specific types of DNA, which are tandem repetitive sequences (satellite DNA). These sequences bind specific proteins called "cen"-proteins. During mitosis the centromeres can be seen during the metaphase stage as a constriction at the chromosome. At this centromeric constriction the two halves of the chromosome, the sister chromatids, are held together until late metaphase. ...
The centromere is a special region of a chromosome, usually near the middle. It is where the two identical sister chromatids stay in contact as the chromosome attaches to the spindle in mitosis. The region contains specific types of DNA, which are tandem repetitive sequences (satellite DNA). These sequences bind specific proteins called "cen"-proteins. During mitosis the centromeres can be seen during the metaphase stage as a constriction at the chromosome. At this centromeric constriction the two halves of the chromosome, the sister chromatids, are held together until late metaphase. ...
In this diagram o a duplicatit chromosome, (2) identifies the centromere-the region that jyns the twa sister chromatids, or each hauf o the chromosome. In prophase o mitosis, specialised regions on centromeres cried kinetochores attach chromosomes tae spindle fibers ...
A human artificial chromosome (HAC) is a microchromosome that can act as a new chromosome in a population of human cells. That is, instead of 46 chromosomes, the cell could have 47 with the 47th being very small, roughly 6-10 megabases (Mb) in size instead of 50-250 Mb for natural chromosomes, and able to carry new genes introduced by human researchers. Ideally, researchers could integrate different genes that perform a variety of functions, including disease defense. Alternative methods of creating transgenes, such as utilizing yeast artificial chromosomes and bacterial artificial chromosomes, lead to unpredictable problems. The genetic material introduced by these vectors not only leads to different expression levels, but the inserts also disrupt the original genome. HACs differ in this regard, as they are entirely ...
... refers to the structure of sequences for eukaryotic chromosomes. Some fine sequences are included in more than one class, so the classification listed is not intended to be completely separate. Some sequences are required for a properly functioning chromosome: Centromere: Used during cell division as the attachment point for the spindle fibers. Telomere: Used to maintain chromosomal integrity by capping off the ends of the linear chromosomes. This region is a microsatellite, but its function is more specific than a simple tandem repeat. Throughout the eukaryotic kingdom, the overall structure of chromosome ends is conserved and is characterized by the telomeric tract - a series of short G-rich repeats. This is succeeded by an extensive subtelomeric region consisting of various types and lengths of repeats - the telomere associated sequences (TAS). These regions are generally low in gene density, low in transcription, ...
A sister chromatid refers tae the identical copies (chromatids) formed bi the replication o a chromosome, wi baith copies jynt thegither bi a common centromere. ...
Graphical representation o the idealiwed human diploid karyotype, shqwin the organisation o the genome intae chromosomes. This drawin shaws baith the female (XX) an male (XY) versions o the 23rd chromosome pair. Chromosomes are shawn aligned at thair centromeres. The mitochondrial DNA is nae shawn ...
The chromosomes of a cell are in the cell nucleus. They carry the genetic information. Chromosomes are made up of DNA and protein combined as chromatin. Each chromosome contains many genes. Chromosomes come in pairs: one set from the mother; the other set from the father. Cytologists label chromosomes with numbers.[1]. Chromosomes are present in every cell nucleus with very few and special exceptions. This means they are found in all eukaryotes, since only eukaryotes have cell nuclei. When eukaryote cells divide, the chromosomes also divide. When a somatic (body) cell (such as a muscle cell) divides, the process is called mitosis. Before mitosis, the cell copies all the chromosomes and then it can divide. When they duplicate, ...
The chromosomes of a cell are in the cell nucleus. They carry the genetic information. Chromosomes are made up of DNA and protein combined as chromatin. Each chromosome contains many genes. Chromosomes come in pairs: one set from the mother; the other set from the father. Cytologists label chromosomes with numbers.[1] Chromosomes are present in every cell nucleus with very few and special exceptions. This means they are found in all eukaryotes, since only eukaryotes have cell nuclei. When eukaryote cells divide, the chromosomes also divide. When a somatic (body) cell (such as a muscle cell) divides, the process is called mitosis. Before mitosis, the cell copies all the chromosomes and then it can divide. When they duplicate, ...
A microchromosome is a type of very small chromosome which is a typical component of the karyotype of birds, some reptiles, fish, and amphibians; they tend to be absent in mammals. They are less than 20 Mb in size; chromosomes which are greater than 40 Mb in size are known as macrochromosomes, while those between 20 and 40 Mb are classified as intermediate chromosomes. Microchromosomes are characteristically very small and often cytogenetically indistinguishable in a karyotype. While originally thought to be insignificant fragments of chromosomes, in species where they have been studied they have been found to be rich in genes. In chickens, microchromosomes have been estimated to contain between 50 and 75% of all genes. The presence of microchromosomes makes ordering and ...
... (MEP) is a genetic programming variant encoding multiple solutions in the same chromosome. MEP representation is not specific (multiple representations have been tested). In the simplest variant, MEP chromosomes are linear strings of instructions. This representation was inspired by Three-address code. MEP strength consists in the ability to encode multiple solutions, of a problem, in the same chromosome. In this way one can explore larger zones of the search space. For most of the problems this advantage comes with no running-time penalty compared with genetic programming variants encoding a single solution in a chromosome.[1][2][3]. ...
ލައިޓް މައިކްރަސްކޯޕަކުން ބަލައިފިނަމަ ޕްލޭޓްލިޓްތައް ހުންނާނީ ވަށް ނުވަތަ ކުކުޅު ބިސް ބުރުގެ ބައްޓަމަށެވެ. ޕްލޭޓްލިޓް އުފެދިފައިވަނީ ސާފު ހުދުކުލައިގެ އަރިމަތީ ބަޔަކާއި، ކުލަ އެކުލެވޭ މެދު ބައެއްގެ މަައްޗަށެވެ. މިބުނި ސާފު ހުދުކުލައިގެ އަރިމަތީބަޔަށް ކިޔަނީހައިއަލޯމީރް(އިނގިރޭސި ބަހުން: Hyalomere) އެވެ.ކުލަ އެކުލެވޭ މެދުގައިވާ ބަޔަށް ކިޔަނީ ގްރެނިއޫލޯމީރް(އިނގިރޭސި ބަހުން: Granulomere)ނުވަތަ ކްރޯމަމީރް(އިނގިރޭސި ބަހުން: Chromomere) އެވެ. އިލެކްޓްރޯން މައިކްރޯސްކޯޕަކުން ބަލައިފިނަމަ ޕްލޭޓްލިޓްގެ ބޭރުފަށަލަ(އިނގިރޭސި ބަހުން: Cell membrane)ހުންނަނީ ...
... in pairs, ordered by size and position of centromere for chromosomes of the same size. ... Characterization of human adult stem-cell populations isolated from visceral and subcutaneous adipose tissue. FASEB J 2009, 23 ... Chromosome Stability. Chromosome stability of cell cultures has been detected by means of the karyotipe analyses. The karyotype ... The normal human karyotype contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes. Normal karyotypes for ...
Homologous chromosomes are made up of chromosome pairs of approximately the same length, centromere position, and staining ... So humans have two homologous chromosome sets in each cell, meaning humans are diploid organisms. Homologous chromosomes are ... The additional 23rd pair is the sex chromosomes, X and Y. If this pair is made up of an X and Y chromosome, then the pair of ... Therefore, when two chromosomes of the exact structure exist, they are able to pair together to form homologous chromosomes. ...
Chromosome A chromosome is a structure that occurs within cells and that contains the cells genetic material. That genetic ... With 46 chromosomes, humans fall well within this average.. The 46 human chromosomes are arranged in 23 pairs. One pair of the ... Each pair of autosomal chromosomes contains two complementary or homologous chromosomes, a maternal and a paternal copy. ... When a chromosome loses its centromere, it is known as acentric. As the centromere is essential for both division and retention ...
Humans have 23 pairs of chromosomes, 46 in all: 44 autosomes and two sex chromosomes. Each parent contributes one chromosome to ... Chromosomes vary in size and in shape. The pairs of autosomal chromosomes are arranged in a karyotype from the biggest to the ... If the centromere is in the middle, the chromosome is metacentric and the chromosome arms are equal in size. If the centromere ... In humans there are 46 chromosomes, or 23 pairs of chromosomes (diploid), in every cell except the mature egg and sperm which ...
Study The Human Genome and Karyotype flashcards from Joel Glotfelty ... Has the centromere at the end of the chromosome. -Not present in humans ... How many base pairs of DNA do humans have in each somatic cell of our bodies? ... The centromere is located above the midline, but not at the top of the chromosome in a. -Ex: chromosome 18 ...
Chromosome pairs are matched up also based on their size, banding pattern, and the position of their centromeres.[2] ... How do some people end up with extra chromosomes? In humans, both sperm and eggs have one set of chromosomes, 23 in number. ... The number and appearance of chromosomes can very dramatically between different organisms. Human beings have 46 chromosomes, ... Downs Syndrome is a disease in human caused by an extra copy of chromosome 21 (the syndrome is frequently referred to as ...
They are organized in pairs. Humans have 23 pairs of chromosomes. In a trisomy syndrome, an extra chromosome is present so that ... Males carry one X chromosome along with a much shorter chromosome, the Y chromosome. Each chromosome has a centromere that ... They are called autosomal chromosomes or autosomes and are designated by a number (with chromosome 1 being the longest, ... The state of an individual or cell with an extra chromosome instead of the normal pair of homologous chromosomes; in humans, ...
Paired chromosomes. (Brooker, 337) In the human body cell, there are 23 pairs of chromosomes. One pair of these are sex ... in humans, which equals 44 chromosomes. (Norman, 7/21/09) Adjective - autosomal. ... Centromere: an indentation on a chromosome where its identical "sister chromatids" are connected and where spindle fibers ... males have an X and a Y chromosome. The sex chromosomes comprise the 23rd chromosome pair in a "karyotype." (HGPIA) In humans ...
5 Other items in genome -Introns -Repeated sequences (telomeres, centromeres) -Non-coding RNAs -Transposons (SINES and LINES) - ... The human genome is made up of 3 billion base pairs How many genes does the Human Genome code for? Human Genome ... 1 Alu Human Polymorphism 2 How many chromosomes does each human cell have? -22 pairs of autosomal chromosome and 1 pair of sex ... Alu Human Polymorphism. How many chromosomes does each human cell have? -22 pairs of autosomal chromosome and 1 pair of sex ...
Human chromosome. Diploid-46 organized into 23 pairs- 22 pairs of autosomes and 1 pair of sex chromosomes. ... Autosomal chromosome. Any chromosome except for the sex chromosome. Sex linked trait. A trait that is controlled by a gene or ... centromere. A specialized structure on the chromosome, appearing during cell division as the constricted central region where ... Sex chromosomes. Genes that are carried by either sec chromosomes are said to be sex linked. X or Y. ...
Autosomal Trisomy explanation free. What is Autosomal Trisomy? Meaning of Autosomal Trisomy medical term. What does Autosomal ... Looking for online definition of Autosomal Trisomy in the Medical Dictionary? ... There are 46 chromosomes in each human somatic cell organized in 23 pairs, of which 22 pairs are similar in appearance but ... Males carry one X chromosome along with a much shorter chromosome, the Y chromosome. Each chromosome has a centromere that ...
... they can also affect the autosomal chromosomes or the sex chromosomes separately. Chromosomes (deletions) may be missing and ... At this stage the chromatids attached to the centromere. Traditional Giemsa stain makes the cells visible. Other technicians ... Chromosome Deletions Cri Du Chat Syndrome , Wolf Hirschhorn Syndrome (Short arm chromosome 4) ... a total of 46 chromosomes. A male has a chromosome set of 46 XY , a woman has a set of 46XX. This is how conventionally the ...
There exist three copies of this human region on the chimpanzee Y chromosome with two surrounding the Y chromosome centromere ... The ampliconic genes evolve faster than their autosomal counterparts. In fact, they even evolve faster than single-copy genes ... 3] Following formation of segmental duplications, forces of evolution such as base-pair substitutions, insertions, deletions, ... 4] On the human Y chromosome as well as other primate Y chromosomes, the pericentromeric and subtelomeric regions are the most ...
Explanation of Homologous chromosome in the largest biology dictionary online. Free learning resources for students covering ... and centromere location. A homologous pair consists of one paternal and one maternal chromosome. In humans, there are a total ... The homologous pair is comprised of a paternal chromosome and a maternal chromosome. These chromosomes pair up during [[meiosis ... If the sex chromosomes are both X chromosomes, then the total number of homologous chromosomes is 23.]] In humans, the [[ ...
autosomal chromosomes. *sex chromosomes. Human cells have 23 pairs of chromosomes(22 pairs of autosomes and 1 pair of sex ... Before this happens every chromosome is copied once (S PHASE) and the copy is joined to the original by CENTROMERE resulting in ... Always two to many chromosomes per cell.. The prokaryotic chromosome is comparatively shorter.. The eukaryotic chromosomes are ... CHROMOSOMES. CHROMOSOMES are thread like structure found in the nucleus with a part or all the genitic material of an organism ...
Acrocentric chromosome: A chromosome with its centromere towards one end. Human chromosomes 13,14,15,21,22 are acrocentric. ... Human chromosome 2 is a result of a centric fusion between two ancestral ape chromosomes (gorillas have 24 pairs of chromosomes ... Normal human karyotype consists of 46 chromosomes, of which 44 are somatic (autosomal) and 2 are sex chromosomes. ... Y-chromosome: The male-specific sex chromosome in humans, which is much smaller than the X-chromosome. 95% of the Y-chromosome ...
The base-pairing rule is A-T and C-G. From the human genome project, it was determined that the human genome contained 3×109 ... Chromosomes are condensed during metaphase and can be ordered according to length and position of centromere as a karyotype. ... In autosomal dominant disorders, if both the paternal and maternal genotypes are of the type Aa, then the offspring will have ... Each somatic cell contains 23 pairs of chromosomes in the nucleus, 22 autosomal pairs and 1 pair of sex chromosomes (XY for ...
Chromosome number, shape and size all determine the species karyotype. For example, humans have 46 chromosomes: two pairs each ... Centromere. A region on a chromosome where the kinetochore assembles and at which a chromosome becomes attached to the ... Traits may be inherited in different patterns such as x-linked inheritance, autosomal recessive or autosomal dominant ... Y chromosome view. One of the two sex chromosomes in humans. Men generally have one X chromosome and one Y chromosome whereas ...
not allowed chromosomes - the 23rd pair of human chromosomes which determine gender; females have two X chromosomes; males have ... Centromere -- a region of a chromosome to which spindle traction fibers attach during mitosis and meiosis; the position of the ... Cytogenetics -- the study of chromosomes. Cystic fibrosis -- an autosomal recessive genetic condition of the exocrine glands, ... HGP -- Human Genome Project. HHMI -- Howard Hughes Medical Institute. Homologous chromosomes -- chromosomes that pair during ...
atDNA - abbreviation for autosomal DNA. autosomal DNA - DNA on a chromosome other than a sex chromosome; humans normally have ... centromere - the region of a chromosome where the two duplicated copies attach to one another during cell division; autosomal ... run of homozygosity - a segment of a paired chromosome that is identical on both copies of that chromosome, meaning it was ... sex chromosome - a chromosome that determines biological sex; a person normally has either two copies of the X chromosome and ...
Each humans chromosome has two arms that are separated by a centromere. The top, shorter arm is the "p arm" and the lower, ... Ministering to the DNA & How To Locate a Problem on a Chromosome. *There are 23 pairs of chromosomes - 22 pairs of autosomes or ... In contrast, maturity-onset diabetes of the young (MODY) is a rare monogenic form of type 2 diabetes that has an autosomal ... non-sex chromosomes and 1 pair of sex. *Chromosome 23 is either X or Y, so the chromosome pair 23 is either XX (female) or XY ( ...
Amplifications were only scored when the copy number of the test probe exceeded that of the chromosome-specific centromere ... The CWR22 xenograft model of human prostate cancer was established by transplantation of human prostate tumor cells into the ... Paired tumors from the primary site of the cancer and from a distant metastasis of 17 patients were successfully analyzed for ... In the BPH samples that could be evaluated, the average percentage of epithelial cells with two signals for autosomal probes ...
We proposed the corresponding human chromosomal segments for chromosomes of the investigated species and found two syntenic ... Macrotus californicus chromosome paints will be a valuable tool for documenting the pattern of karyotypic evolution within ... To better understand the evolutionary relationships within Phyllostomidae, we developed chromosome paints from the bat species ... By examining the chromosomal homologies defined by chromosome painting among two representatives of the subfamily ...
In a typical micrograph the 46 human chromosomes (the diploid number) are arranged in homologous pairs, each consisting of one ... Examples of autosomal recessive disorders are albinism, cystic fibrosis.. X-linked genes are found on the sex X chromosome. X- ... A karyotype is picture of all the chromosomes in the metaphase stage arranged according to length and centromere position. A ... The chromosomes are all numbered except for the X and the Y chromosomes, which are the sex chromosomes. In humans, as in all ...
PMS1 and PMS2 on chromosome 7p22. No MutH homologues have been identified in humans [14]. MSH2 and MSH6 bind together to form a ... LS is an autosomal dominant disease with recessive phenotype caused by a defect in one of the mismatch repair (MMR) genes. The ... telomeres and centromeres), many genes contain repetitive sequences in their coding regions and some of these genes play key ... heteroduplex (MutSa) that predominantly identifies base pairs mismatched, while MSH2 and MSH3 (MutSβ) combine to identify short ...
GenesGeneKaryotypeTotal of 46 chromosomesChromatidsSets of chromosomesInheritanceOrganismProphaseRegion of a chromosomeHaploid23rd pairAutosomeAcrocentric chromosomesEukaryoticTrisomyGeneticsIndividual chromosomesLocation of the centromereAneuploidyIdenticalSingle chromosomeComplete set of chromosomesBase pairsCytogeneticsSomatic cellsAbnormalMitoticSequencesConsidered an acroceMetacentricSpermAbnormalitiesCopiesInterphaseMutationConstrictionExtra chromosomeTranslocationPaternalGametesKnown as autosomesGenetic materialMales and femalesProteinInactivationSeparation of homologous chromosomesMeioticAlleleCellOccursDeterminesSide of the centromereAutosomes and sex chromosomes
- Homologs have the same genes in the same loci where they provide points along each chromosome which enable a pair of chromosomes to align correctly with each other before separating during meiosis. (wikipedia.org)
- Homologous chromosomes are made up of chromosome pairs of approximately the same length, centromere position, and staining pattern, for genes with the same corresponding loci. (wikipedia.org)
- The alleles on the homologous chromosomes may be different, resulting in different phenotypes of the same genes. (wikipedia.org)
- Using test cross experiments, he revealed that, for a single parent, the alleles of genes near to one another along the length of the chromosome move together. (wikipedia.org)
- Using this logic he concluded that the two genes he was studying were located on homologous chromosomes. (wikipedia.org)
- Homologous chromosomes are chromosomes which contain the same genes in the same order along their chromosomal arms. (wikipedia.org)
- The 22 pairs of homologous chromosomes contain the same genes but code for different traits in their allelic forms since one was inherited from the mother and one from the father. (wikipedia.org)
- The process of meiosis I is generally longer than meiosis II because it takes more time for the chromatin to replicate and for the homologous chromosomes to be properly oriented and segregated by the processes of pairing and synapsis in meiosis I. During meiosis, genetic recombination (by random segregation) and crossing over produces daughter cells that each contain different combinations of maternally and paternally coded genes. (wikipedia.org)
- At one point in the cell's life, its chromosomes become untangled and open up to expose their genes. (encyclopedia.com)
- Another American biologist, Thomas Hunt Morgan , developed the idea that chromosomes were made up of linked groups of factors called genes . (conservapedia.com)
- The location of the centromere on each chromosome gives the chromosome its characteristic shape, and can be used to help describe the location of specific genes. (conservapedia.com)
- How many genes do humans have? (brainscape.com)
- Contain distinct DNA (containing 37 known genes) not associated with chromosomes. (brainscape.com)
- Chromosomes are the structures in cells that package "genes" and ensure their safe transfer into new cells. (richardsonthebrain.com)
- When a paired chromosome separates, as it does during "cell division," the genes on each chromosome must be copied exactly into genes on the new chromosome. (richardsonthebrain.com)
- Life's key processes-the storing and passing on of biological information from one "generation" to the next-are carried out through the "replication" of chromosomes and the "expression" of genes. (richardsonthebrain.com)
- The human genome is made up of 3 billion base pairs How many genes does the Human Genome code for? (slideplayer.com)
- Genes that are carried by either sec chromosomes are said to be sex linked. (studystack.com)
- Each chromosome carries genes that contain the hereditary material that controls the growth and characteristics of the body. (thefreedictionary.com)
- Further refining is possible with DNA probes containing fluorescent tags, which will help to locate genes or DNA sequences on a specific region of a chromosome. (nethealthbook.com)
- Homologous chromosomes have alleles on the same genes located in the same loci. (biology-online.org)
- Heterologous chromosomes have alleles on different genes. (biology-online.org)
- About 30,000 genes are scattered along these chromosomes, separated by DNA of unknown function (intergenic DNA). (wikimd.org)
- Mitochondria also contain a circular chromosome coding for a limited number of genes. (wikimd.org)
- Genes can be the common factor of the qualities of most human-inherited traits. (euvolution.com)
- LS and FAP are diseases with autosomal dominant inheritance, caused by germline mutations in the DNA mismatch repair genes (MMR) or in the Adenomatous Polyposis Coli tumor suppressor gene (APC), respectively. (hindawi.com)
- These variant syndromes include Muir-Torre syndrome (autosomal dominant) due to MSH2 and MLH1 genes mutations and characterized by the presence of cutaneous manifestations (multiple sebaceous adenomas, epithelioma, and keratoacanthoma) associated with colorectal and endometrial cancers and Turcot syndrome (autosomal dominant) associated with APC, PMS2, and MLH1 genes mutations and characterized by brain cancers (glioblastoma and cerebellar medulloblastoma) are associated with colorectal cancer [ 6 , 7 ]. (hindawi.com)
- What do homologous chromosomes mean in terms of the number of genes an individual possesses? (coursehero.com)
- The 1.2% chimp-human distinction, for example, involves a measurement of only substitutions in the base building blocks of those genes that chimpanzees and humans share. (wikiversity.org)
- These chromosomes are the same size, shape, and carry the same genes (genetic instructions) though the actual expression of the genes may vary. (csbsju.edu)
- Genes== === Number of genes === The following are some of the gene count estimates of human chromosome 17. (wikidoc.org)
- So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikidoc.org)
- title=Between a chicken and a grape: estimating the number of human genes. (wikidoc.org)
- candidate gene approach Strategy to identify disease-associated genes based on finding candidate genes in a chromosome region in which a disorder is mapped. (kumc.edu)
- , Moreover, the PS genetic locus, PROS, consists of two genes which are located on chromosome 3 but on different sides of the centromere: an active alpha PS gene (PROS1) at q11.2 and an inactive beta pseudogene (PROS2) at p21-cen. (hamdanjournal.org)
- The Y chromosomes contain only a few genes, while X chromosome has more than 300 genes. (biodifferences.com)
- Chromosomal Theory of Inheritance Genes are physically located at loci on chromosomes Additionally, it is chromosomes . (slideplayer.com)
- genes on the Y chromosome make genes on the X chromosome more active . (slideplayer.com)
- The size of each gene varies greatly, and there are about 20,000 genes that are distributed along the 23 pairs of chromosomes. (porphyriafoundation.org)
- A chromosome is like a cookbook with many recipes (or genes) that tell the body how to function. (porphyriafoundation.org)
- Along each chromosome, there are thousands of genes. (porphyriafoundation.org)
- Since the chromosomes come in pairs, the genes along them also come in pairs. (porphyriafoundation.org)
- This means that the genes that are found on one chromosome in each pair are the same as the genes that are found on the other chromosome in that pair. (porphyriafoundation.org)
- Most of the genes that are located on the X chromosome are different from the genes that are located on the Y chromosome. (porphyriafoundation.org)
- Since autosomal genes always occur in pairs, with one coming from each parent, individuals with an autosomal dominant form of porphyria [Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), familial Porphyria Cutanea Tarda (f-PCT)] have one non-working gene with a mutation on one chromosome, paired with a working (or normal) gene on the other chromosome. (porphyriafoundation.org)
- Definition A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. (prezi.com)
- X-linked dominant disorders are caused by mutations in genes on the X chromosome. (prezi.com)
- Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (47,XXY) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity RECEssIVE X-linked recessive conditions are also caused by mutations in genes on the X chromosome. (prezi.com)
- For males, this pair is not homologous (different length and type of genes). (sciencedocbox.com)
- Genes on the chromosome are represented with letters. (sciencedocbox.com)
- The homologous pairs have the same genes, but could have different alleles (forms of the gene). (sciencedocbox.com)
- 22 Sources of Genetic Variation from Meiosis Independent Assortment: Each homologous pair lines up independently on the spindle in Meiosis I. So all of the possible arrangements of chromosomes are if two genes are on different chromosomes. (sciencedocbox.com)
- The following is a partial list of genes on human chromosome 1. (wikipedia.org)
- ref name=vega>http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved 2012-03-11. (wikidoc.org)
- All of the following are similarities between the behavior of genes and the behavior of chromosomes EXCEPT: A. Alleles segregate in gamete formation, and homologous chromosomes separate in meiosis I B. Dominant alleles determine the individual's phenotype, and sister chromatids determine the individual's karyotype. (studyres.com)
- C. An individual has two alleles of each gene and two chromosomes in each homologous pair D. Alleles of different genes segregate independently, and different homologous pairs separate independently in meiosis. (studyres.com)
- A cross between F1 males and females produces the following offspring: 75 long, red females 23 short, red females 39 long, red males 37 long, brown males 14 short, red males 10 short, brown males Are the eye-color and wing-shape genes autosomal or sex-linked? (studyres.com)
- Because even small segments of chromosomes can span many genes, chromosomal disorders are characteristically dramatic and often fatal. (edu.vn)
- We then performed comparative FISH mapping using 29 mouse complementary DNA (cDNA) clones of the 22 X-linked genes and the seven genes linked to mouse chromosome 11 (whose homologue had fused to the sex chromosomes), and FISH mapping using two T. muenninki cDNA clones of the Y-linked genes. (springer.com)
- Whereas six of the mouse chromosome 11 genes were also mapped to Xp and Yp, in addition, one gene, CBX2 , was also mapped to Xp, Yp, and chromosome 14 in T. muenninki . (springer.com)
- gene transpositions from the Y chromosome to autosomes, superseding Y-linked genes by new genes on the X chromosome or autosomes, and Y-to-X translocation containing Y-linked genes (Arakawa et al. (springer.com)
- 7. Genes that are located on the same chromosome a. will be separated during gamete formation. (docplayer.net)
- If two genes are almost always found in the same gamete, a. they are located far apart on the same chromosome. (docplayer.net)
- 25. If two genes are on the same chromosome, a. they are in the same linkage group. (docplayer.net)
- The mammalian system of having genes determining the sex and other male functions on the Y chromosome almost certainly does not occur in insects. (phrygane.tk)
- To accommodate hemizygosity of the X chromosome in male fruit flies, expression of X-linked genes increases twofold. (biomedsearch.com)
- Recall that homologous chromosomes are similar in length, centromere placement, and the same genes at the same loci. (the-mad-scientist.net)
- There are autosomal genes, which means they're located on any of the 22 autosomes, not the sex chromosomes. (the-mad-scientist.net)
- Any two genes that are found on the same chromosome are said to be linked. (the-mad-scientist.net)
- These animals usually possess mutations in single genes that have been linked to specific human diseases. (smauk.org.uk)
- All six genes in this region (in order from centromere to telomere: White/ABCG1, TFF3, TFF2, TFF1, PDE9A, and NDUVF3) have been screened and eliminated as candidates for DFNB10. (elsevier.com)
- Type II arrested spermatocytes display normal chromosome synapsis, normal XY-body morphology and meiotic crossover formation but have a lowered expression of several cell cycle regulating genes and fail to silence the X chromosome-encoded gene ZFX . (edu.au)
- Mouse models of colitis offer an avenue for identifying IBD genes or pathways that may lead to identification of the human orthologs. (pnas.org)
- A total of 88 genes annotated within of 14 BACs located in the chromosome 1 of S. senegalensis were used to elaborate syntenic maps. (mdpi.com)
- During this webinar we will review basic genetic information that can assist ophthalmologists in "going back to school" to refresh their knowledge of genes, mutations, and chromosomes to apply to a better understanding of their patients and test results. (cybersight.org)
- Rather, studies in human cells and model organisms indicate that modest decreases in NIPBL and cohesin activity alter the transcription of many genes that regulate growth and development. (sdbonline.org)
- The genes on the sex chromosomes and their downstream factors such as sex hormones act on the tissues of the body and produce the sex difference. (pediaa.com)
- X chromosome contains ten times the amount of genes than Y chromosome. (pediaa.com)
- However, some genes on the X chromosome, especially those located in the pseudochromosomal regions, can escape from X-inactivation. (pediaa.com)
- The pseudochromosomal region contains genes which are homologous with the Y chromosome. (pediaa.com)
- Therefore, these genes occur in pairs. (pediaa.com)
- The other genes in the Y chromosome are involved in male fertility. (pediaa.com)
- X chromosomes contain genes for female sex determination. (pediaa.com)
- Y chromosome contain genes for male sex determination. (pediaa.com)
- X chromosome contains more genes (about 1000 genes) than the Y chromosome. (pediaa.com)
- A chromosome is the carrier of genes, the molecules ultimately responsible in carrying forward the hereditary set of information about protein synthesis and, in turn, the functioning of the entire cell. (lecturio.com)
- Autosomal genes are therefore present in two copies, one inherited from each parent. (parents-life.com)
- Females have two gene copies on their X chromosomes, whereas males have only one copy of genes carried on their X and Y chromosomes. (parents-life.com)
- X-linked diseases affect genes that are carried on the X chromosome: more than 400 X-linked diseases have been identified. (parents-life.com)
- Later on during the 1930s Harriet Creighton and Barbara McClintock were studying meiosis in corn cells and examining gene loci on corn chromosomes. (wikipedia.org)
- The additional 23rd pair is the sex chromosomes, X and Y. If this pair is made up of an X and Y chromosome, then the pair of chromosomes is not homologous because their size and gene content differ greatly. (wikipedia.org)
- The terms chromosome and gene were used long before biologists really understood what these structures were. (encyclopedia.com)
- The Watson and Crick discovery made it possible to express biological concepts (such as the gene) and structures (such as the chromosome) in concrete chemical terms. (encyclopedia.com)
- He concluded that the gene for white eyes must be on a chromosome that was related to being male. (conservapedia.com)
- If there is a mistake during meiosis, a chromosome pair might fail to properly separate and distribute into each forming cell, and a gamete might be left with two copies of a gene instead of one. (wikibooks.org)
- A word that refers to a particular gene that has identical alleles on both homologous chromosomes. (studystack.com)
- Chromosomes (deletions) may be missing and there may be micro deletions (also known as contiguous gene syndromes). (nethealthbook.com)
- Using fluorescent microscopy this band is made visible on the chromosome, which hence makes it easier for the geneticist to study the gene defect. (nethealthbook.com)
- Homologous chromosomes vs. heterologous chromosomes == When chromosomes are ''homologous'', it means that they are the ''same'', at least in terms of the gene sequences and loci. (biology-online.org)
- (biology-online.org)
- Some chromosomes are 'gene-rich' such as chromosomes 1 and 2 while others are 'gene-poor' such as 13 and 21. (wikimd.org)
- Each gene is localised at a specific point (locus) on the chromosome. (wikimd.org)
- Autosomal dominant inheritance - a gene on one of the first 22 pairs of chromosomes, which, when present in one copy, causes a trait or disease to be expressed. (lymphedemapeople.com)
- One of two or more forms of a particular gene at a specific position on a chromosome . (genomebc.ca)
- It can diagnose genetic disorders based on chromosomes such as Down syndrome or conditions with smaller gene mutations like cystic fibrosis . (genomebc.ca)
- I shut each door that has been opened to allow evil to affect each base, base pair, gene, chromosome, and my entire DNA. (aslansplace.com)
- I ask You to open all doors that should be opened to each base, base pair, gene, chromosome, and my entire DNA so the righteous gates cannot be closed. (aslansplace.com)
- I declare the correction of each base, base pair, gene, chromosome, and my entire DNA is accomplished by the finished work of Jesus Christ on the cross. (aslansplace.com)
- This gene takes place in chromosome eleven. (euvolution.com)
- In FAP syndrome, attenuated forms (AFAP) are caused by low penetrance mutations (missense mutations) in the main APC gene or by biallelic loss of the MYH gene (MAP, MUTYH-associated polyposis with autosomal recessive inheritance), encoding a protein of the Base Excision Repair complex (BER) [ 5 ]. (hindawi.com)
- Chromosome 17 contains the [[Homeobox]] B gene cluster. (wikidoc.org)
- autosomal disease A disease encoded by a gene on one of the 22 pairs of autosomes. (kumc.edu)
- autosomal dominant A trait that is expressed in an individual who is heterozygous for a particular gene when the mutant allele is on one of the autosomes. (kumc.edu)
- autosomal modifier gene A gene that modifies the action of the autosomes. (kumc.edu)
- autosomal recessive A trait that is expressed in an individual who is homozygous for a particular gene. (kumc.edu)
- One of these regulatory factors is the liver specific transcription factor hepatocyte nuclear factor 1 (HNF1), a binding site which is located in the 638 base pair promoter area at the 5' end of the PS gene. (hamdanjournal.org)
- The primer pairs are not efficient to carry further gene knockdown experiment and required to design another HNF1 and PROS1 primers. (hamdanjournal.org)
- Like, the chromosomes 17 has the gene SOX9, that activates TDF transcription factor, this is essential in determining the male sex as this factor is encoded by the SRY gene found on the Y chromosome. (biodifferences.com)
- Female offspring are produced by the mutation on SOX9 gene in humans. (biodifferences.com)
- Pearson Prentice Hall 14-2 Colorblindness is much more common in males than in females because the recessive gene on the male's single X chromosome is expressed. (slideplayer.com)
- For example, the ALAS2 gene, involved in X-linked Erythropoietic Protoporphyria (EPP), is on the X chromosome, but is NOT on the Y chromosome. (porphyriafoundation.org)
- There are estimated to be over 4000 human diseases caused by single gene defects. (prezi.com)
- Types Multiple gene disorder Depending on which type of chromosome is afected, they can be classified in Autosomal Sexual When the disease is related onto a no sexual chromosome Dominant Recesive Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. (prezi.com)
- Examples of this type of disorder are Huntington's disease Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder. (prezi.com)
- Homologous chromosomes may contain different forms of a gene for the same trait. (sciencedocbox.com)
- The following are some of the gene count estimates of human chromosome 1. (wikipedia.org)
- A sex-linked trait is a trait: A. B. C. D. E. That can be inherited only by males That can be inherited only by females Whose gene is located on the X-chromosome Whose gene is located on the Y-chromosome Which cannot be accurately identified using a pedigree 2. (studyres.com)
- A sex-linked gene: A. is located on the X or Y chromosome B. is not inherited according to Mendel's principles C. is not passed from father to son D. is required for development as a male or female E. shows a phenotype only in males 3. (studyres.com)
- E. Offspring receive one allele of each gene from each parent, and offspring receive one chromosome from each homologous pair in the sperm and egg. (studyres.com)
- What genotypes and phenotypes will you expect in the F1 and F2 generations if the recessive yellow-body phenotype is due to an autosomal gene? (studyres.com)
- Preliminary linkage between the HD locus and the G8 marker placed histoy disease gene on human chromosome 4.and T. Horizontal Virus Spread Assay for Helper Virus Histo ry. (retzepti.ru)
- This analysis revealed that the ancestral gene order on the long arm of the X chromosome and the centromeric region of the short arm of the Y chromosome were conserved. (springer.com)
- CBX2 is the candidate gene for the novel sex determination system in the two other species of Tokudaia , which lack a Y chromosome and SRY gene. (springer.com)
- Finally, we identify gene duplication events as constituting significant targets of recent positive selection in the human lineage. (biomedcentral.com)
- The tumour suppressor gene encoding the cAMP dependent protein kinase A (PKA) type I-α regulatory subunit (RIα), PRKAR1A , has been mapped to chromosome 17q22-24 and is often mutated in the Carney complex (CNC), 1, 2 a multiple neoplasia and lentiginosis syndrome inherited in an autosomal dominant manner. (bmj.com)
- It is composed of a monochromatid gene expression phenomenon that we discovered in two fission yeasts with the selective chromosome copy segregation phenomenon that we discovered in mouse cells. (royalsocietypublishing.org)
- The DLX5 gene encodes a transcription factor related to the Drosophila distal-less homeobox domain-containing protein, hence named DLX gene in humans. (royalsocietypublishing.org)
- In addition, extensive signs of degeneration were detected in the nonrecombining regions in the form of transposable element accumulation and of hundreds of gene losses on each mating-type chromosome. (genetics.org)
- An interesting exception to this pattern is chromosome 19, which has a much lower density and intensity of hotspots in addition to having the highest gene density ( 9 ) and proportion of open chromatin ( 10 ). (sciencemag.org)
- Highly differentiated sex chromosomes create a lethal imbalance in gene expression in one sex. (biomedsearch.com)
- Inheritance of a faulty gene on one of the autosomes - the chromosomes other than the sex chromosomes. (smauk.org.uk)
- Type I arrested spermatocytes display severe asynapsis of the homologous chromosomes, disturbed XY-body formation and increased expression of the Y chromosome-encoded gene c and seem to activate a DNA damage pathway leading to induction of p63, possibly causing spermatocyte apoptosis. (edu.au)
- Sister chromatid cohesion factors, including the Nipped-B ortholog of human NIPBL, are also critical for gene expression and development in Drosophila melanogaster. (sdbonline.org)
- Heterozygous Nipped-B mutants do not show cohesion defects, indicating that their effects on gene expression are unlikely to be caused by a significant reduction in binding of cohesin to chromosomes. (sdbonline.org)
- The Y chromosome contains a gene called SYR , which develops the fetus into a male. (pediaa.com)
- X chromosome does not contain the SYR gene. (pediaa.com)
- Y chromosome contains the SYR gene, which is involved in the development of the testes. (pediaa.com)
- Single-gene defects may affect the autosomes (chromosomes 1-22) or the sex chromosomes (X and Y). Whether the disease is expressed when both or only a single copy of the gene carry a mutation is determined by the mode of inheritance: autosomal recessive, autosomal dominant or X-linked (sex-linked). (parents-life.com)
- The most common autosomal recessive defect in one gene is beta-thalassemia, caused by a mutation in the beta-globin gene. (parents-life.com)
- The disease is caused by the unstable expansion of a CGG repeat in the 50-untranslated region of the FMR1 gene, which lies on the X chromosome. (parents-life.com)
- The chromosome constitution of an individual, karyotype, can be analyzed following tissue culture of an appropriate sample. (conservapedia.com)
- A karyotype a complete set of chromosomes of a particular species. (wikibooks.org)
- The latter is what determines whether a developing embryo develops as a physiological male or female, with a male karyotype displaying the diminutive Y chromosome beside its larger X chromosome partner (women have two X chromosomes in their karyotype). (wikibooks.org)
- A karyotype is generally an image of a completed and arranged set of chromosomes as viewed through a light microscope. (wikibooks.org)
- Down's syndrome is easily identified via a karyotype by the obvious extra chromosome present in the image. (wikibooks.org)
- Chromosomes are condensed during metaphase and can be ordered according to length and position of centromere as a karyotype. (wikimd.org)
- Human karyotype Genetic diseases composed of? (prezi.com)
- Central dogma of molecular Duplication Transcription Translation Human Karyotype Genetic Most genetic disorders are quite rare and affect one person in every several thousands or millions. (prezi.com)
- A karyotype is the number and appearance of chromosomes, including their length, banding pattern, and centromere position. (edu.vn)
- To obtain a view of an individual's karyotype, cytologists photograph the chromosomes and then cut and paste each chromosome into a chart, or karyogram ( [link] ). (edu.vn)
- To obtain the classic depiction of the karyotype in which homologous pairs of chromosomes are aligned in numerical order from longest to shortest, the geneticist obtains a digital image, identifies each chromosome, and manually arranges the chromosomes into this pattern ( [link] ). (edu.vn)
- Finally, the karyotype can pinpoint translocations , which occur when a segment of genetic material breaks from one chromosome and reattaches to another chromosome or to a different part of the same chromosome. (edu.vn)
- High-resolution GTG-banded karyotype showed lack of centromeric constriction in some chromosomes, premature centromere separation in others, and repulsion of the heterochromatin regions. (stanford.edu)
- The karyotype is the set of chromosomes, both autosomes and sex chromosomes, in an organism. (phrygane.tk)
- The karyotype found in 90% of the large family of short-horned grasshoppers, Acrididae, is usually given as 2n6 = 23 [22 + X (or XO)], the female karyotype, 23 (22 + XX), being usually inferred from the male. (phrygane.tk)
- Our results show that members of the Pitheciinae have conserved several chromosome forms found in the inferred ancestral Platyrrhini karyotype (associations of human homologous segments 3a/21, 5/7a, 2b/16b, 8a/18, 14/15a and 10a/16a). (biomedcentral.com)
- Introduce karyotyping using this activity, which has students create a karyotype by matching chromosomes, this activity or this activity . (openstax.org)
- Let's begin by looking at DNA in the form of a karyotype , a convenient way to lay out chromosomes. (annerenwick.com)
- This is a human karyotype of an individual with Down's Syndrome. (annerenwick.com)
- Sex chromosomes always come last on a karyotype. (annerenwick.com)
- Humans have a total of 46 chromosomes, but there are only 22 pairs of homologous autosomal chromosomes. (wikipedia.org)
- There are 22 pairs of autosomes and two sex chromosomes in humans, a total of 46 chromosomes. (nethealthbook.com)
- In humans, there are a total of 46 chromosomes in the nucleus of a somatic cell. (biology-online.org)
- In humans, there is a total of 46 chromosomes or in pair of 23. (biodifferences.com)
- 5 Humans have 23 pairs of chromosomes, for a total of 46 chromosomes in each somatic (body) cell. (sciencedocbox.com)
- The technician adds colchicine to arrest the dividing cells at the stage when each of the chromosomes is separating into two chromatids. (nethealthbook.com)
- At this stage the chromatids attached to the centromere. (nethealthbook.com)
- Mitotic configurations consistent in split centromeres and splayed chromatids in all or most of the chromosomes or premature centromere division (PCD) have been described in three categories. (biomedcentral.com)
- The primary constrictions of fixed centromeres do not show, and uninterrupted chromatids, characteristic of holocentric chromosomes, are particularly obvious in M. [From Giles, E. T., and Webb, G. C. (1973). (phrygane.tk)
- Chromatids are one strand of a chromosome. (the-mad-scientist.net)
- Every chromosome consists of a pair of chromatids . (lecturio.com)
- any variation in chromosome number that involves individual chromosomes rather than entire sets of chromosomes. (thefreedictionary.com)
- Diploid - cell/organism that contains two sets of chromosomes. (csbsju.edu)
- Disorders of chromosome number include the duplication or loss of entire chromosomes, as well as changes in the number of complete sets of chromosomes. (edu.vn)
- American biologist Walter Sutton knew Mendel's principles of genetics work on peas, and suggested that chromosomes held the secret of inheritance. (conservapedia.com)
- In contrast, maturity-onset diabetes of the young (MODY) is a rare monogenic form of type 2 diabetes that has an autosomal dominant mode of inheritance. (aslansplace.com)
- Human genetics study is of inheritance as it occurs in human beings. (euvolution.com)
- Autosomal inheritance usually affects both males and females equally. (smauk.org.uk)
- Some students have difficulties connecting the idea of chromosome structure with inheritance, as discussed in this paper . (openstax.org)
- Autosomal recessive inheritance accounts for the majority of genetic disease. (parents-life.com)
- Wright's polygene estimate in the case of quanti- tative inheritance (q.v.), the number of segregating pairs of polygenes (n) can be estimated from the variances computed for the F1 and F2 populations. (damasgate.com)
- The chromosome carries portions of the hereditary information of an organism. (conservapedia.com)
- The chromosomes, apart from the sex chromosomes , are known as autosomes of an organism. (biodifferences.com)
- The number of chromosomes varies from one organism to others. (biodifferences.com)
- Abnormalities in the chromosomes (autosomes or sex chromosomes) results in the retardation in growth of an organism or delay in development. (biodifferences.com)
- The nucleus contains the thread-like structure known as chromosome, which includes the genetic information and is transferred from one organism to other of the same species. (biodifferences.com)
- The pair of chromosomes that determines the sex of an organism, as they regulate the sex-linked traits. (biodifferences.com)
- Autosomal aneuploidy is usually lethal to the organism. (retzepti.ru)
- Recombinant is used to describe the new chromosome and the resulting organism. (the-mad-scientist.net)
- A condition in which an organism has more than the normal number of chromosome sets (two for diploid species) is called polyploidy. (openstax.org)
- A diploid organism with two X chromosomes (i.e., 2X:2A) has an X:A ratio of 1:1, or 1. (damasgate.com)
- Then, at the beginning of prophase of the first meiotic division, called prophase I, the chromosomes condense and become visible. (csbsju.edu)
- 14 Prophase I During Prophase I, the chromosomes condense to become visible. (sciencedocbox.com)
- Crossing Over: During prophase I, strands of can be exchanged while the homologous pair are joined in tetrads. (sciencedocbox.com)
- A better correlate appears to be the length of paired prophase chromosomes, as measured by the total length per nucleus of the synaptonemal complexes, SCs, which are the axes of the bivalents (about 200 μm for the mouse and about 3000 μm for lily). (biologists.org)
- Batiza, 166) A constricted region of a chromosome that separates it into a short arm and a long arm. (richardsonthebrain.com)
- In humans there are 46 chromosomes, or 23 pairs of chromosomes ( diploid ), in every cell except the mature egg and sperm which have a set of 23 chromosomes ( haploid ). (conservapedia.com)
- the state of having chromosomes in a number that is not an exact multiple of the haploid number. (thefreedictionary.com)
- an·eu·ploi·dy/ ( an″u-ploi´de ) any deviation from an exact multiple of the haploid number of chromosomes, whether fewer or more. (thefreedictionary.com)
- What is meant by diploid and haploid chromosome numbers and how do these relate to somatic & germ cells, respectively? (coursehero.com)
- Example: A human sperm or egg, which is haploid, contains 23 chromosomes (n=23). (csbsju.edu)
- 6 Diploid and Haploid Cells Diploid cells have homologous pairs of chromosomes. (sciencedocbox.com)
- 8 Diploid cells are represented by 2n and haploid by n, where n is the number of different chromosomes. (sciencedocbox.com)
- Human Chromosomes Humans have 46 total chromosomes Two Categories -Autosomes- first 22 pairs -Sex Chromosomes - 23rd pair, determine sex. (slideplayer.com)
- Females have two X chromosomes as the 23rd pair, and males have one X and one Y chromosome as their 23rd pair. (parents-life.com)
- Autosome -- a nuclear chromosome other than the X- and Y-chromosomes. (lymphedemapeople.com)
- autosome Any chromosome other than the X or Y. Humans have 22 pairs of autosomal chromosomes. (kumc.edu)
- Overall, these results indicated that the Y chromosome of T. muenninki avoided a loss event, which occurred in an ancestral lineage of T. osimensis and T. tokunoshimensis , through fusion with an autosome. (springer.com)
- Both X and Y chromosomes contain pseudoautosomal regions at both termini, which act as an autosome. (pediaa.com)
- Among the most common are translocations (top panel, left side) which may be reciprocal (a swap of chromosome material between non-homologous chromosomes) or Robertsonian (a fusion of two acrocentric chromosomes). (bmj.com)
- 2 acrocentric chromosomes fuse near the centromere and lose short arms. (studystack.com)
- The first pair of metacentric chromosomes has been proposed as a proto sex-chromosome originated by a Robertsonian fusion between acrocentric chromosomes. (mdpi.com)
- In "eukaryotic" cells, half of the total mass of each chromosome is due to the DNA it contains and half is due to protein. (richardsonthebrain.com)
- The eukaryotic chromosomes are larger than that of prokaryotes. (oracleias.org)
- Each eukaryotic chromosome contains a linear DNA with two ends. (oracleias.org)
- Eukaryotic chromosomes are separated from the cytoplasm by the nuclear membrane. (oracleias.org)
- Telomere is present in the tip of eukaryotic chromosome. (oracleias.org)
- Down's Syndrome is a disease in human caused by an extra copy of chromosome 21 (the syndrome is frequently referred to as Trisomy 21 for this reason). (wikibooks.org)
- trisomy 8 syndrome a syndrome associated with an extra chromosome 8, usually mosaic (trisomy 8/normal), characterized by mild to severe mental retardation, prominent forehead, deep-set eyes, thick lips, prominent ears, and camptodactyly (abnormally flexed fingers). (thefreedictionary.com)
- trisomy 13 syndrome holoprosencephaly due to an extra chromosome 13, in which central nervous system defects are associated with mental retardation, cleft lip and palate, polydactyly (extra fingers or toes), and dermal pattern anomalies, as well as abnormalities of the heart, viscera, and genitalia. (thefreedictionary.com)
- trisomy 22 syndrome a syndrome due to an extra chromosome 22, characterized typically by mental and growth retardation, undersized head, low-set or malformed ears, small receding mandible, long philtrum on the upper lip, preauricular skin tag or sinus, and congenital heart disease. (thefreedictionary.com)
- Partial trisomy occurs when only a part of a chromosome attaches to another. (thefreedictionary.com)
- A chromosome extra to one of the pairs is called TRISOMY . (thefreedictionary.com)
- For example, in DOWN'S SYNDROME affected individuals have three number-21 chromosomes rather than the normal two, a condition known as TRISOMY . (thefreedictionary.com)
- Common forms of aneuploidy are trisomy in which there is one extra chromosome and monosomy in which there is one less, than the normal 46. (thefreedictionary.com)
- Down's syndrome (trisomy of chromosome 21), Edwards' syndrome (trisomy 18), Turner's syndrome (monosomy 45 XO). (thefreedictionary.com)
- Incidence It is the most common autosomal trisomy. (vdocuments.net)
- An individual with an error in chromosome number is described as aneuploid , a term that includes monosomy (loss of one chromosome) or trisomy (gain of an extraneous chromosome). (edu.vn)
- What are the 3 genetic disorders showing complete trisomy of an autonomic chromosome? (studystack.com)
- 11 Interpreting Genetics Diagrams Homologous chromosomes are indicated by length. (sciencedocbox.com)
- As the relationship between SHFM genotype and phenotype is not understood, here, we present a new developmental biology framework for explaining the baffling genetics of chromosome (Chr. (royalsocietypublishing.org)
- Despite strong interest in the genetics of these chromosomes, their large regions of suppressed recombination often are enriched in transposable elements and therefore can be challenging to assemble. (genetics.org)
- From 2003 to 2005, she completed a postdoctoral fellowship in human genetics with Prof. Uta Francke at Stanford University School of Medicine. (stanford.edu)
- An image of the dividing cells is taken when the chromosomes are all visible, and the individual chromosomes are cut out of the picture and rearranged on a separate medium based on size. (wikibooks.org)
- Structural (large scale abnormalities in genomic sequence of individual chromosomes). (bmj.com)
- Each chromosome can be identified by its relative size and location of the centromere, a constriction in the chromosome. (porphyriafoundation.org)
- Disorders of chromosome number in which the number of chromosomes is above or below the normal (46) are called aneuploidy . (thefreedictionary.com)
- Aneuploidy -- state of having variant chromosome number (too many or too few). (lymphedemapeople.com)
- 8 Embryo Biopsy Acid Tyrodes Embryo Biopsy Courtesy of Kathleen Miller, RMA of NJ Courtesy of Kathleen Miller, RMA of NJ Aneuploidy Analysis of Embryos for Chromosomes 13, 16, 18, 21 & 22 Multiple Hybridizations Add Diagnostic Power Chr. (docplayer.net)
- Disorders in chromosome number (aneuploidy) are typically lethal to the embryo, although a few trisomic genotypes are viable (e.g. (openstax.org)
- Further, this "female-specific crossover maturation inefficiency" is inferred to make major contributions to the high level of chromosome mis-segregation and resultant aneuploidy that uniquely afflicts human female oocytes (e.g., giving Down syndrome). (edu.au)
- Maturation inefficiency could potentially reflect an evolutionary advantage of increased aneuploidy for human females. (edu.au)
- one of two identical halves of a replicated chromosome. (richardsonthebrain.com)
- In autosomes the centromere position is identical. (biodifferences.com)
- In sex chromosomes the centromere position os non-identical. (biodifferences.com)
- These chromosomes are not identical (one is from the mother and one from the father), but they. (sciencedocbox.com)
- Centromeres were found to be composed mainly of copia-like transposable elements and to possess specific minisatellite repeats identical between the different chromosomes. (genetics.org)
- Anaphase culminates in the formation of identical daughter chromosomes. (lecturio.com)
- Two daughter nuclei with an identical set of chromosomes are formed at the end of telophase. (lecturio.com)
- A chromosome duplicates and is attached to its identical copy at the centromere. (annerenwick.com)
- It occurs as pairs in females, but only a single chromosome can be found in males. (pediaa.com)
- Below are Jill and Joe's karyotypes where each sock represents a single chromosome. (annerenwick.com)
- During "cell division," the chromosomes first replicate so that each "daughter cell" receives a complete set of chromosomes. (richardsonthebrain.com)
- a condition where more or less than a complete set of chromosomes is found in each cell of an individual. (thefreedictionary.com)
- How many base pairs of DNA do humans have in each somatic cell of our bodies? (brainscape.com)
- In chromosome 1 there resides 8% of each cell's total DNA, about a quarter of a billion "base pairs. (richardsonthebrain.com)
- In contrast), chromosomes 21 and 22 contain some 40 and 45 million base pairs respectively. (richardsonthebrain.com)
- DNA is a double-stranded macromolecule and its backbone contains alternating phosphate and sugar (deoxyribose) residues linked to one of four bases - adenine (A), thymine (T), cytosine (C) and guanine (G). The structure is in a double helix - a twisted ladder that have base-pairs as the rungs. (wikimd.org)
- DNA contains the four bases thymine (T), cytosine (C), adenine (A) and guanine (G). These bases form base pairs along the length of the DNA helix. (genomebc.ca)
- How many base pairs are contained within each nucleosome? (brainscape.com)
- Chromosome 1 spans about 249 million nucleotide base pairs , which are the basic units of information for DNA . (wikipedia.org)
- Chromosome 16 spans about 90 million base pairs (the building material of DNA) and represents just under 3% of the total DNA in cells . (wikipedia.org)
- it has been isolated as a protein-DNA complex containing from 220 to 250 base pairs.and Orcutt, B. Experiments in yeast helped confirm that they do. (retzepti.ru)
- Large repeat expansions of SCA10, and many other microsatellite expansions, can exceed 10,000 base pairs (bp) in size. (stanford.edu)
- The sequence of base pairs in DNA/RNA is thus the universal genetic code in all forms of life that descended from a common progenitor 4.5 billion years ago. (biomedcentral.com)
- The size of the X chromosome is 155 million base pairs. (pediaa.com)
- The size of the Y chromosome is about 59 million base pairs. (pediaa.com)
- The events that have led to the development of cytogenetics as a specialty within the life sciences are described, with special attention to the early history of human cytogenetics. (biomedcentral.com)
- The future of molecular cytogenetics is likely to depend on a better knowledge of chromosome structure and function. (biomedcentral.com)
- One of the purposes of this review is to encourage research into chromosome structure as this could help advance molecular cytogenetics. (biomedcentral.com)
- Barr body -- the condensed single X-chromosome seen in the nuclei of somatic cells of female mammals. (lymphedemapeople.com)
- a. sperm and egg somatic cells c. reduction of the chromosome number 24. (docplayer.net)
- X chromosome inactivation, the transcriptional inactivation of one X chromosome in somatic cells of female mammals, has revealed important advances in our understanding of development, epigenetic control, and RNA biology. (biomedsearch.com)
- X-chromosome inactivation in mammalian de- velopment, the repression of one of the two X chro- mosomes in the somatic cells of females as a method of dosage compensation. (damasgate.com)
- In the somatic cells of human females the "inactivated" X chromo- some is not completely silenced. (damasgate.com)
- When this gamete joins with its respective counterpart during fertilization, the number of chromosomes will be abnormal. (wikibooks.org)
- A geneticist who works with these tests all the time will be able to tell whether a set of chromosomes is normal or abnormal. (nethealthbook.com)
- Abnormal chromosome 9 (right) showing an increased length in the q arm compared to its homologous chromosome (left). (hindawi.com)
- Males inherit the X chromosome from their mother, and if this inherited X chromosome is abnormal, they will be affected with the disease. (parents-life.com)
- In abnormal cases where more than two X chromosomes are present, only one X remains active and the others are inactivated. (damasgate.com)
- Genetic studies in the worm and yeast also have indicated roles of SUN proteins in mediating the interactions between the NE and centrosome, centromeres, and telomeres at various stages of mitotic and meiotic cells ( 16 - 22 ). (pnas.org)
- FIGURE 1 Mitotic and meiotic holocentric chromosomes in an earwig, Labidura truncata. (phrygane.tk)
- In British patent application no. 8525252 (publication no. 2166445) there are described various DNA sequences which may be used as probes to hybridize individually at a number of polymorphic sites within the human and animal genomes enabling the production of a "fingerprint" composed of marked bands of differing molecular weights. (google.com.au)
- Most of the 10 2.4x10 9 possible sequences of nucleotides would lead to complete biological malfunction (Sagan, 1997, 22:967, emp. (apologeticspress.org)
- Cell cycle duration assessed by average generation time using differential sister chromatid stain analysis and FISH studies of DNA centromere sequences in PCD individuals, are included and compared with previously reported PCD individuals from 9 families. (biomedcentral.com)
- FISH studies revealed the presence of alpha satellite DNA from chromosomes 1, 13, 21/18, X, all centromeres, and CENP-B box sequences in metaphasic and anaphasic cells from PCD individuals. (biomedcentral.com)
- Recent studies generating complete human sequences from Asian, African and European subgroups have revealed population-specific variation and disease susceptibility loci. (biomedcentral.com)
- Short tandem arrays (two to four copies) of sequences homologous to the 1.688 satellite are dispersed throughout the euchromatin of the X chromosome. (genetics.org)
- In addition, elucidation of Y-chromosome sequences will advance our understanding of the Y-chromosome's organization, function and evolution and is poised to provide avenues for sterile insect technique approaches. (biomedcentral.com)
- Point centromeres" bind to specific proteins that recognise particular DNA sequences with high efficiency. (educalingo.com)
- the position of the centromere determines whether the chromosome is considered an acrocentric, metacentric or telomeric chromosome. (lymphedemapeople.com)
- Centromere placement can be characterized by four main arrangements, consisting of being either metacentric, submetacentric, telocentric, or acrocentric. (wikipedia.org)
- If these arms are of appreciable length, the chromosomes are called metacentric (arms of about equal length), or submetacentric (arms of unequal length). (phrygane.tk)
- These findings allowed to trace an evolutionary trend for the large metacentric chromosome of S. senegalensis, throughout different rearrangements, which could be at an initial phase of differentiation as sex chromosome. (mdpi.com)
- This reduction in the number of chromosomes is important so that the original number of chromosomes is restored following fertilization of the egg by the sperm. (conservapedia.com)
- In humans, both sperm and eggs have one set of chromosomes, 23 in number. (wikibooks.org)
- For every chromosome in one of dad's sperm, there is a matching (homologous) chromosome in mom's egg. (csbsju.edu)
- While recent data about sperm DNA integrity in balanced chromosomes rearranged carriers have been published [ 7 , 8 ], no data from carriers of heterochromatin polymorphism have been published to-date so, consequently, a lack of information about the effects on the phenotype is still present. (hindawi.com)
- 23 chromosomes in sperm (male gamete). (slideserve.com)
- Reproductive cells (gametes) have 23 chromosomes, 22 autosomes and either one X (oocytes) or one Y (sperm cells) chromosome. (parents-life.com)
- Chromosome Abnormalities Fact Sheet. (wikibooks.org)
- There are other chromosome abnormalities such as translocation (one segment of a chromosome is transferred to another chromosome) as may occur in congenital anterior polar cataract, deletion (a loss of a piece of chromosome) as in aniridia, choroideremia, retinoblastoma, etc. (thefreedictionary.com)
- Chromosome disorders can be divided into two categories: abnormalities in chromosome number and chromosome structural rearrangements. (edu.vn)
- At its most basic, the karyogram may reveal genetic abnormalities in which an individual has too many or too few chromosomes per cell. (edu.vn)
- The condition of having three copies of a given chromosome in each somatic cell rather than the normal number of two. (thefreedictionary.com)
- A combination of birth defects caused by inheriting both copies of a section of the #15 chromosome from the father. (lymphedemapeople.com)
- People normally have two copies of this chromosome. (wikidoc.org)
- Humans have two copies of chromosome 1, as they do with all of the autosomes , which are the non- sex chromosomes . (wikipedia.org)
- E, low- grade astrocytoma cells with no or inactive p53 and an overac- tive PDGF system have lost both copies of part of chromosome 22. (retzepti.ru)
- Chromosomes are elongated during interphase and are of varying lengths. (wikimd.org)
- Conditions that are autosomal dominant sometimes have reduced penetrance, which means that although only one mutated copy is needed, not all individuals who inherit that mutation go on to develop the disease. (prezi.com)
- The strength of the effects of the spn-E mutation differs for 1.688 satellite DNA subfamilies and is more pronounced for autosomal pericentromeric satellites compared to the X-linked centromeric ones. (genetics.org)
- Each chromosome has a constriction point called the centromere , which divides the chromosome into two sections, or "arms. (conservapedia.com)
- Monocentric chromosomes are the norm in most insect orders (Fig. 2), with the single centromere characterized by a primary constriction, a structure seen in many other animals and in plants. (phrygane.tk)
- The occurrence of an extra chromosome in one of the 23 matched and identifiable pairs so that there are three, instead of two, of a particular chromosome. (thefreedictionary.com)
- 7 translocation with a centromere-proximal breakpoint situated over 41 million bases away from the DLX locus, centromeric and DLX5 -region inversions have satisfied key genetic and developmental biology predictions of the mechanism. (royalsocietypublishing.org)
- Sometimes segments of chromosome are duplicated, deleted, or rearranged by inversion or translocation. (openstax.org)
- Robertsonian Translocation (46 chromosomes), 3. (studystack.com)
- A homologous pair consists of one paternal and one maternal chromosome. (biology-online.org)
- The homologous pair is comprised of a paternal chromosome and a maternal chromosome. (biology-online.org)
- Thus, the mammalian female is a mosaic composed of two types of cells-one that expresses only the paternal X chromosome, and another that expresses only the maternal X chromosome. (damasgate.com)
- Human gametes have two of each type of 23 chromosomes. (docplayer.net)
- Human gametes have one of each type of 23 chromosomes. (docplayer.net)
- This results in gametes with too many or too few chromosomes. (openstax.org)
- The pseudochromosomal regions in both X and Y chromosomes contain homologous chromosomes, which can be genetically recombined during the formation of gametes. (pediaa.com)
- Such a pair of chromosomes that regulate the somatic characters of the body are known as autosomes. (biodifferences.com)
- Twenty-two of the chromosome pairs, known as autosomes (chromosomes 1-22), have the same appearance in males and females. (parents-life.com)
- A chromosome is a structure that occurs within cells and that contains the cell's genetic material. (encyclopedia.com)
- In eukaryotes the genetic material is organized as distinct structural entities called chromosomes. (oracleias.org)
- In the case of limb development, naturally arising limb developmental anomalies have provided a rich source of genetic material for discovering developmental mechanisms operating in humans. (royalsocietypublishing.org)
- It represents 5% of the whole genetic material in humans. (pediaa.com)
- Autosomal chromosomes: Chromosomes 1-22, which form homologous pairs in both males and females. (sciencedocbox.com)
- Short reads from both males and females and the chromosome quotient method enabled identification of Y-chromosome scaffolds which were extensively validated by PCR. (biomedcentral.com)
- Each chromosome contains both protein and one long, thin molecule of DNA. (richardsonthebrain.com)
- Brooker, 76) A substance within a chromosome consisting of DNA and protein. (richardsonthebrain.com)
- a type of protein which is found with DNA in chromosomes. (richardsonthebrain.com)
- Protein S (PS) is a known Vitamin K dependent plasma glycoprotein that is produced in many human tissues including the liver. (hamdanjournal.org)
- Total PS concentration in the human plasma is approximately 0.35 μM: 38% as free PS form and 62% as PS-C4 binding protein (C4BP) complex form. (hamdanjournal.org)
- Each of the chromosomes is composed of the tightly packed DNA, that is coiled around the histones protein. (biodifferences.com)
- The chagun mouse is a model for human dwarfism and provides insight into the mechanism whereby this centriolar protein affects bone growth and spermatogenesis. (prolekare.cz)
- Two related questions are: What protein(s) create supercoil domain boundaries in a bacterial chromosome? (biomedsearch.com)
- It is packaged into heterochromatin on the active X chromosome but into euchromatin and bound by the epigenetic organizer protein CTCF on the inactive X chromosome. (biomedcentral.com)
- X chromosome inactivation: recent advances and a look forward. (biomedsearch.com)
- Because of X inactivation, aberrations in sex chromosomes typically have milder phenotypic effects (e.g. (openstax.org)
- During early embryonic development, one of the two X chromosomes of a female is permanently inactivated in a process called X-inactivation. (pediaa.com)
- Since X-inactivation is a random process, either the X chromosome from the mother or the father can be inactivated in the daughter cell. (pediaa.com)
- Because of its physical location on the X chromosome, DXZ4 is exposed to the process of X-chromosome inactivation (XCI). (biomedcentral.com)
- Nondisjunction connotes the failure of the separation of homologous chromosomes during cell division. (lecturio.com)
- The review provides a brief account of the structure of somatic and meiotic chromosomes, stressing the high conservation of structure in plants and animals, with emphasis on aspects that require further research. (biomedcentral.com)
- Each allele in a pair can mix with either allele in another pair. (the-mad-scientist.net)
- The ASP method, conducted with additional markers on the 51 original families and in 8 new sibling pairs, showed a significant excess of allele sharing, generating an elevated multipoint maximum LOD score (ASPEX MLS = 3.28). (pubmedcentralcanada.ca)
- Chromosomes are visible only during cell division, when the DNA is super coiled and condensed to facilitate distribution into daughter cells. (conservapedia.com)
- the presence of an additional (third) chromosome of one type in an otherwise diploid cell (2n +1). (thefreedictionary.com)
- in humans, the state of a cell containing 47 normal chromosomes. (thefreedictionary.com)
- In humans the trisomic cell contains 47 chromosomes and is designated 2 n + 1. (thefreedictionary.com)
- Brooker, 337) In the human body cell, there are 23 pairs of chromosomes. (richardsonthebrain.com)
- When a cell prepares to divide, they become highly compacted at a region called the centromere. (richardsonthebrain.com)
- How many chromosomes does each human cell have? (slideplayer.com)
- There are 46 chromosomes in each human somatic cell organized in 23 pairs, of which 22 pairs are similar in appearance but differ at the molecular level. (thefreedictionary.com)
- Always two to many chromosomes per cell. (oracleias.org)
- Human cells have 23 pairs of chromosomes(22 pairs of autosomes and 1 pair of sex chromosomes)giving total of 46 per cell. (oracleias.org)
- How many chromosomes are present in each daughter cell? (coursehero.com)
- Homologous chromosomes - matching chromosomes in a diploid cell. (csbsju.edu)
- Thus if the parental cell has 46 chromosomes, each daughter has 23. (csbsju.edu)
- In the body, there are numerous cells, and each cell has 22 pairs of autosomes. (biodifferences.com)
- Hence, the new daughter cells will receive a full complete copy chromosome, containing the genetic information of their parent cell. (biodifferences.com)
- One X chromosome is inactivated in each cell. (slideplayer.com)
- The human body is made up of trillions of cells and over 200 different cell types like various blood, liver, and brain cell types. (porphyriafoundation.org)
- Each cell contains 46 chromosomes. (porphyriafoundation.org)
- How many pairs of chromosomes are present in a human cell? (brainscape.com)
- Cell cycle duration, assessed by average generation time, and FISH studies of the centromere, are considered. (biomedcentral.com)
- This report examines the evidences of a relationship between PCD and cell cycle impairment of cells bearing main structural centromere components from PCD individuals. (biomedcentral.com)
- These studies reaffirmed that chromosome structure and behavior in somatic and germ cell divisions were common to all plants and animals. (biomedcentral.com)
- The bivalent is pulled apart in anaphase I, which means one half of the homologous pair is pulled to one end of the cell. (the-mad-scientist.net)
- A normal structural human cell carries two sets, 23 pairs of homologous chromosomes, which is 46 chromosomes in total. (lecturio.com)
- The microtubules shorten with a resultant pull of a set of newly-formed daughter chromosomes towards opposite ends of the cell. (lecturio.com)
- Normal adult stature in humans is achieved primarily through regulation of long bone growth, which occurs through endochondral ossification [ 1 , 2 ]. (prolekare.cz)
- X chromosome is a sex chromosome that occurs paired in the female and single in the male. (pediaa.com)
- The other pair, the sex chromosomes determines the sex of the individual. (thefreedictionary.com)
- Though autosomes variates from allosomes or sex chromosomes, there are certain chromosomes which determines the gender (male/female). (biodifferences.com)
- Following the discovery that each chromatid must be terminated by a telomere, geneticists concluded that it is highly probable that a chromosome must always have two arms, one on each side of the centromere. (phrygane.tk)
- Para = 2 breaks occur in one arm to one side of the centromere, usually no change in phenotype. (studystack.com)
- With all such information, at this moment we will be highlighting the points that differentiate the autosomes and sex chromosomes, also known as allosomes. (biodifferences.com)