In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Any method used for determining the location of and relative distances between genes on a chromosome.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Actual loss of portion of a chromosome.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The alignment of CHROMOSOMES at homologous sequences.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
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.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Mapping of the KARYOTYPE of a cell.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Aberrant chromosomes with no ends, i.e., circular.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
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.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
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.
Structures within the CELL NUCLEUS of insect cells containing DNA.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
Structures which are contained in or part of CHROMOSOMES.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
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).
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
The 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.
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)
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
The possession of a third chromosome of any one type in an otherwise diploid cell.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
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.
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.
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.
Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.
The 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.
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).
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.
Genetic loci associated with a QUANTITATIVE TRAIT.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
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.
An aberration in which an extra chromosome or a chromosomal segment is made.
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
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.
An individual having different alleles at one or more loci regarding a specific character.
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)
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)
Genotypic differences observed among individuals in a population.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
The 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.
The process by which a DNA molecule is duplicated.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
The 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.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
The 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.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
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.
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.
The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).
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.
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.
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.
The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
The relationships of groups of organisms as reflected by their genetic makeup.
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
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.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
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.
Established cell cultures that have the potential to propagate indefinitely.
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.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
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.)
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
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.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Genes that are located on the X CHROMOSOME.
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).
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
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.
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)
Genes that influence the PHENOTYPE only in the homozygous state.
The functional hereditary units of BACTERIA.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
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.
An individual in which both alleles at a given locus are identical.
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).
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
The degree of replication of the chromosome set in the karyotype.
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.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
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.
The genetic complement of a plant (PLANTS) as represented in its DNA.
Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.
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.
Deoxyribonucleic acid that makes up the genetic material of fungi.
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)
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.
DNA present in neoplastic tissue.
Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.
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.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
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.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
A characteristic symptom complex.
The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.
Deoxyribonucleic acid that makes up the genetic material of plants.
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.
Proteins found in any species of bacterium.
DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.
The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.
Genes that are located on the Y CHROMOSOME.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.
A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).
The mechanisms by which the SEX of an individual's GONADS are fixed.
Deletion of sequences of nucleic acids from the genetic material of an individual.

Specific chromosomal aberrations and amplification of the AIB1 nuclear receptor coactivator gene in pancreatic carcinomas. (1/412)

To screen pancreatic carcinomas for chromosomal aberrations we have applied molecular cytogenetic techniques, including fluorescent in situ hybridization, comparative genomic hybridization, and spectral karyotyping to a series of nine established cell lines. Comparative genomic hybridization revealed recurring chromosomal gains on chromosome arms 3q, 5p, 7p, 8q, 12p, and 20q. Chromosome losses were mapped to chromosome arms 8p, 9p, 17p, 18q, 19p, and chromosome 21. The comparison with comparative genomic hybridization data from primary pancreatic tumors indicates that a specific pattern of chromosomal copy number changes is maintained in cell culture. Metaphase chromosomes from six cell lines were analyzed by spectral karyotyping, a technique that allows one to visualize all chromosomes simultaneously in different colors. Spectral karyotyping identified multiple chromosomal rearrangements, the majority of which were unbalanced. No recurring reciprocal translocation was detected. Cytogenetic aberrations were confirmed using fluorescent in situ hybridization with probes for the MDR gene and the tumor suppressor genes p16 and DCC. Copy number increases on chromosome 20q were validated with a probe specific for the nuclear receptor coactivator AIB1 that maps to chromosome 20q12. Amplification of this gene was identified in six of nine pancreatic cancer cell lines and correlated with increased expression.  (+info)

Angiopoietins 3 and 4: diverging gene counterparts in mice and humans. (2/412)

The angiopoietins have recently joined the members of the vascular endothelial growth factor family as the only known growth factors largely specific for vascular endothelium. The angiopoietins include a naturally occurring agonist, angiopoietin-1, as well as a naturally occurring antagonist, angiopoietin-2, both of which act by means of the Tie2 receptor. We now report our attempts to use homology-based cloning approaches to identify new members of the angiopoietin family. These efforts have led to the identification of two new angiopoietins, angiopoietin-3 in mouse and angiopoietin-4 in human; we have also identified several more distantly related sequences that do not seem to be true angiopoietins, in that they do not bind to the Tie receptors. Although angiopoietin-3 and angiopoietin-4 are strikingly more structurally diverged from each other than are the mouse and human versions of angiopoietin-1 and angiopoietin-2, they appear to represent the mouse and human counterparts of the same gene locus, as revealed in our chromosomal localization studies of all of the angiopoietins in mouse and human. The structural divergence of angiopoietin-3 and angiopoietin-4 appears to underlie diverging functions of these counterparts. Angiopoietin-3 and angiopoietin-4 have very different distributions in their respective species, and angiopoietin-3 appears to act as an antagonist, whereas angiopoietin-4 appears to function as an agonist.  (+info)

Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. (3/412)

We are conducting a genome scan at an average resolution of 10 centimorgans (cM) for type 2 diabetes susceptibility genes in 716 affected sib pairs from 477 Finnish families. To date, our best evidence for linkage is on chromosome 20 with potentially separable peaks located on both the long and short arms. The unweighted multipoint maximum logarithm of odds score (MLS) was 3.08 on 20p (location, chi = 19.5 cM) under an additive model, whereas the weighted MLS was 2.06 on 20q (chi = 57 cM, recurrence risk,lambda(s) = 1. 25, P = 0.009). Weighted logarithm of odds scores of 2.00 (chi = 69.5 cM, P = 0.010) and 1.92 (chi = 18.5 cM, P = 0.013) were also observed. Ordered subset analyses based on sibships with extreme mean values of diabetes-related quantitative traits yielded sets of families who contributed disproportionately to the peaks. Two-hour glucose levels in offspring of diabetic individuals gave a MLS of 2. 12 (P = 0.0018) at 9.5 cM. Evidence from this and other studies suggests at least two diabetes-susceptibility genes on chromosome 20. We have also screened the gene for maturity-onset diabetes of the young 1, hepatic nuclear factor 4-a (HNF-4alpha) in 64 affected sibships with evidence for high chromosomal sharing at its location on chromosome 20q. We found no evidence that sequence changes in this gene accounted for the linkage results we observed.  (+info)

Trisomies 8 and 20 characterize a subgroup of benign fibrous lesions arising in both soft tissue and bone. (4/412)

Trisomy 8 and trisomy 20 are nonrandom aberrations in desmoid tumors. The presence of these trisomies in related benign fibrous lesions of bone has not been previously addressed. In this study, 22 specimens from 19 patients diagnosed with desmoid tumor, desmoplastic fibroma, periosteal desmoid tumor, osteofibrous dysplasia, or fibrous dysplasia were examined by cytogenetic analysis of short-term cultures and bi-color fluorescence in situ hybridization of cytological touch preparations or paraffin-embedded tissue with centromeric probes for chromosomes 8 and 20. Trisomy 8 and trisomy 20 were detected by molecular cytogenetic methodologies in 15 specimens, including 10 primary bone lesions. Traditional cytogenetic analysis revealed trisomy 8 in two cases of osteofibrous dysplasia. Our findings demonstrate that trisomy 8 and trisomy 20 are also nonrandom aberrations in histologically similar, but clinically distinct, benign fibrous lesions of bone.  (+info)

Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. (5/412)

Creutzfeldt-Jakob disease (CJD) belongs to a group of prion diseases that may be infectious, sporadic, or hereditary. The 200K point mutation in the PRNP gene is the most frequent cause of hereditary CJD, accounting for >70% of families with CJD worldwide. Prevalence of the 200K variant of familial CJD is especially high in Slovakia, Chile, and Italy, and among populations of Libyan and Tunisian Jews. To study ancestral origins of the 200K mutation-associated chromosomes, we selected microsatellite markers flanking the PRNP gene on chromosome 20p12-pter and an intragenic single-nucleotide polymorphism at the PRNP codon 129. Haplotypes were constructed for 62 CJD families originating from 11 world populations. The results show that Libyan, Tunisian, Italian, Chilean, and Spanish families share a major haplotype, suggesting that the 200K mutation may have originated from a single mutational event, perhaps in Spain, and spread to all these populations with Sephardic migrants expelled from Spain in the Middle Ages. Slovakian families and a family of Polish origin show another unique haplotype. The haplotypes in families from Germany, Sicily, Austria, and Japan are different from the Mediterranean or eastern European haplotypes. On the basis of this study, we conclude that founder effect and independent mutational events are responsible for the current geographic distribution of hereditary CJD associated with the 200K mutation.  (+info)

Angiopoietin-3, a novel member of the angiopoietin family. (6/412)

A cDNA clone encoding angiopoietin-3 protein (Ang3), a novel member of the angiopoietin family, was identified. Ang3 cDNA was cloned from a human aorta cDNA library. Ang3 is a 503 amino acid protein having 45.1% and 44.7% identity with human angiopoietin-1 and human angiopoietin-2, respectively. Ang3 mRNA is expressed in lung and cultured human umbilical vein endothelial cells (HUVECs). Ang3 mRNA expression in HUVECs was slightly decreased by vascular endothelial cell growth factor treatment, suggesting that the regulation of Ang3 mRNA expression is different from that of Ang2.  (+info)

Centrosomal kinase AIK1 is overexpressed in invasive ductal carcinoma of the breast. (7/412)

A centrosomal serine/threonine kinase, AIK1(3)/breast tumor amplified kinase/aurora2, which was recently identified as an oncogene, shows high amino acid identity with chromosome segregation kinases, fly Aurora, and yeast Ipl1. Immunohistochemical analyses of invasive ductal adenocarcinomas of the breast revealed that overexpression of AIK1 was observed in 94% of the cases, irrespective of the histopathological type, whereas the protein was not detected in normal ductal and lobular cells. Benign breast lesions including fibrocystic disease and fibroadenoma (epithelial components) displayed weakly detectable AIK1 expression in part of the lesions. This is the first immunohistochemical report of AIK1 expression in primary human breast carcinomas. Although the physiological function(s) of AIK1 kinase during cell division remains to be determined, the markedly high positivity of AIK1 staining in the cancer lesions suggested a possible involvement of its overexpression in the tumorigenesis of some of breast cancer cells.  (+info)

The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors. (8/412)

DNA methylation in mammals is required for embryonic development, X chromosome inactivation and imprinting. Previous studies have shown that methylation patterns become abnormal in malignant cells and may contribute to tumorigenesis by improper de novo methylation and silencing of the promoters for growth-regulatory genes. RNA and protein levels of the DNA methyltransferase DNMT1 have been shown to be elevated in tumors, however murine stem cells lacking Dnmt1 are still able to de novo methylate viral DNA. The recent cloning of a new family of DNA methyltransferases (Dnmt3a and Dnmt3b) in mouse which methylate hemimethylated and unmethylated templates with equal efficiencies make them candidates for the long sought de novo methyltransferases. We have investigated the expression of human DNMT1, 3a and 3b and found widespread, coordinate expression of all three transcripts in most normal tissues. Chromosomal mapping placed DNMT3a on chromosome 2p23 and DNMT3b on chromosome 20q11.2. Significant overexpression of DNMT3b was seen in tumors while DNMT1 and DNMT3a were only modestly over-expressed and with lower frequency. Lastly, several novel alternatively spliced forms of DNMT3b, which may have altered enzymatic activity, were found to be expressed in a tissue-specific manner.  (+info)

1. Alagille syndrome: spectrum of clinical presentation in India. http://www.ncbi.nlm.nih.gov/pubmed/22692667. Gupta P, Bhakhri BK, Paul P.. Indian J Gastroenterol.2012Jun;31(3):149-50.doi:10.1007/s12664-012-0199-8. No abstract available.. PMID: 22692667 [PubMed - indexed for MEDLINE]. 2. Alagille syndrome: a rare disease in an adolescent.. http://www.ncbi.nlm.nih.gov/pubmed/22678460. Guru Murthy GS, Rana BS, Das A, Thapa BR, Duseja AK, Dhiman RK, Chawla YK.. Dig Dis Sci. 2012Nov;57(11):3035-7. doi:10.1007/s10620-012-2226-0.Epub 2012Jun 8. No abstract. available.. PMID: 22678460 [PubMed - indexed for MEDLINE]. 3. Alagille syndrome with prominent skin manifestations.. http://www.ncbi.nlm.nih.gov/pubmed/16394388. Sengupta S, Das JK, Gangopadhyay A.. Indian J Dermatol Venereol Leprol. 2005 Mar-Apr;71(2):119-21.. PMID: 16394388 [PubMed - indexed for MEDLINE] Free Article. 4. Alagille syndrome.. http://www.ncbi.nlm.nih.gov/pubmed/12420920. Shendge H, Tullu MS, Shenoy A, Chaturvedi R, Kamat JR, Khare ...
Since the first descriptions of Alagille syndrome (syndromic bile duct paucity) 30 years ago, our appreciation of the clinical variability and complexity of this disorder has grown. In addition to the liver, Alagille syndrome is associated with abnormalities that involve the heart, eye, skeleton, ki …
Alagille syndrome is a genetic disorder affecting heart, liver and other body systems. Alagille syndrome pictures, symptoms, causes and treatment explained.
Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a rare autosomal dominant genetic disorder caused by mutations in the Notch signalling pathway
Describes Alagille syndrome, a rare, inherited disorder that affects the liver. Covers the causes, symptoms, diagnosis, treatment, and long-term outlook.
|.. ۞ One hBUB1 somatic mutation that led to an amino acid substitution. Where the three human syntrophin genes, most abundant in heart and skeletal muscle, differentiate as a human macrophage model. Plays an important role in CC synapse formation and in the organization of UTRN and CC acetylcholine receptors. The activity of cytochrome P450…
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. 24 ...
My son is 15 weeks old and has recently been diagnosed with Alagille syndrome. Over the last couple of weeks he has started itching his eyes and face. Im not sure he can co-ordinate his hand to the...
Mehta, J.S., Vithana, E.N., Tan, D.T.H., Yong, V.H.K., Aung, T., Yam, G.H.F., Law, R.W.K., Pang, C.P. (2008). Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset fuchs endothelial corneal dystrophy. Investigative Ophthalmology and Visual Science 49 (1) : 184-188. [email protected] Repository. https://doi.org/10.1167/iovs.07- ...
She was treated with oral calcium and calcitriol and her general fatigue markedly improved.. Her mother and younger sister did not show clinical or laboratory evidence suggestive of an abnormal regulation of calcium and phosphate homeostasis.. She was referred to a geneticist for further evaluation. After obtaining written informed consent, genomic DNA was extracted from leukocytes of our patient by standard methods. Methylation analysis of the promoter regions of the splice variants XLαs and A/B was performed by bisulfite sequencing.26 The molecular genetic result revealed a GNAS gene methylation defect of the A/B promoter, which is specific for PHP type Ib. The STX16 deletion was not detectable in the patient.. At her follow-up, at the age of 17 the patient remained without symptoms, having normal puberty, height 173cm (94th percentile) and obesity with a BMI of 31.24kg/m2. Currently her regimen consists of both calcitriol and calcium supplements with poor adherence to treatment. Her serum ...
PURPOSE: To investigate the functional role that the zinc e-box binding homeobox 1 (ZEB1) gene, which underlies the genetic basis of posterior polymorphous corneal dystrophy 3 (PPCD3), plays in corneal endothelial cell proliferation, apoptosis, migration, and barrier function. METHODS: A human corneal endothelial cell line (HCEnC-21T) was transfected with siRNA targeting ZEB1 mRNA. Cell proliferation, apoptosis, migration, and barrier assays were performed: Cell proliferation was assessed with cell counting using a hemocytometer; cell apoptosis, induced by either ultraviolet C (UVC) radiation or doxorubicin treatment, was quantified by measuring cleaved caspase 3 (cCASP3) protein levels; and cell migration and barrier function were monitored with electric cell-substrate impedance sensing (ECIS ...
Alagille syndrome is an inherited condition in which bile builds up in the liver because there are too few bile ducts to drain the bile. This results in liver damage.
Hypoplasia of the hepatic ducts, congenital pulmonary artery stenosis, facial abnormalities, and other congenital malformations, particularly skeletal.
Complete information for WFDC1 gene (Protein Coding), WAP Four-Disulfide Core Domain 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
The JAG1 gene is associated with autosomal dominant Alagille syndrome (MedGen UID: 365434) and tetralogy of Fallot (MedGen UID: 21498).
J:58809 Loomes KM, Underkoffler LA, Morabito J, Gottlieb S, Piccoli DA, Spinner NB, Baldwin HS, Oakey RJ, The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome. Hum Mol Genet. 1999 Dec;8(13):2443-9 ...
Inimese 20. kromosoom ehk kromosoom 20 on inimese üks väiksemaid kromosoome. Nagu kõiki teisi autosoome ehk mittesugukromosoome, on inimesel ka 20. kromosoomi kaks koopiat.. Inimese 20. kromosoom sisaldab umbes 63 miljonit aluspaari[1] ehk ligikaudu 2% kogu inimese DNA-st.. Selles kromosoomis on leitud 1025 geeni, mille seas on ka 541 valke kodeerivat ja 204 pseudogeeni[1].. On leitud seoseid 20. kromosoomis paiknevate geenide ja selliste haiguste vahel nagu Alagillei sündroom, Creutzfeldti-Jakobi tõbi, tsöliaakia, leukeemia, Okihiro sündroom, brahhüdaktüülia (lühisõrmsus).. ...
Alagille syndrome is an autosomal dominant inherited disorder associated with liver, heart, eye and skeletal abnormalities, and characteristic facial features.
Forex broker inc forex peace army forum #### UNREALIZED GAIN ON FOREX Forex online trading job 965 country #### Forex brokers uk mt45
The Topix share index rose to itshighest level since 1991 on Thursday, catching up to globalequities gains on Japans first trading day of 2018.
ZNF286B兔多克隆抗体(ab110696)可与人样本反应并经WB实验严格验证,被1篇文献引用。中国75%以上现货,所有产品均提供质保服务,可通过电话、电邮或微信获得本地专属技术支持。
ZNF493兔多克隆抗体(ab107876)可与人样本反应并经WB实验严格验证,被1篇文献引用。中国75%以上现货,所有产品均提供质保服务,可通过电话、电邮或微信获得本地专属技术支持。
The flow acetone staining technique (FAST) allows one to concurrently study physical cell features revealed by light‐scatter analysis, surface/nuclear phenotypes, and cellular DNA content
Alagille syndrome is an autosomal dominant disorder with high penetrance but variable expressivity. Alagille syndrome 1 (ALGS1; MIM 118450) is caused by mutations in the JAG1 gene, encoding jagged-1, a ligand for the Notch receptors. Alagille syndrome 2 (ALGS2; MIM 610205) is caused by mutations in NOTCH2, which encodes a transmembrane Notch receptor. Interactions between Notch ligands and receptors regulate signaling pathways important for cell fate determination. The main clinical findings of Alagille syndrome include cholestasis due to bile duct paucity, congenital heart defects, skeletal abnormalities, a characteristic facial appearance, eye abnormalities, and renal disease. Cardiovascular findings include tetralogy of Fallot, peripheral pulmonary artery stenosis, atrial and/or ventricular septal defects, and coarctation of the aorta. Butterfly vertebra is the most common skeletal finding, particularly in individuals with JAG1 mutations. Other findings include narrowing of interpeduncular ...
Alagille syndrome is an autosomal dominant disorder with high penetrance but variable expressivity. Alagille syndrome 1 (ALGS1; MIM 118450) is caused by mutations in the JAG1 gene, encoding jagged-1, a ligand for the Notch receptors. Alagille syndrome 2 (ALGS2; MIM 610205) is caused by mutations in NOTCH2, which encodes a transmembrane Notch receptor. Interactions between Notch ligands and receptors regulate signaling pathways important for cell fate determination. The main clinical findings of Alagille syndrome include cholestasis due to bile duct paucity, congenital heart defects, skeletal abnormalities, a characteristic facial appearance, eye abnormalities, and renal disease. Cardiovascular findings include tetralogy of Fallot, peripheral pulmonary artery stenosis, atrial and/or ventricular septal defects, and coarctation of the aorta. Butterfly vertebra is the most common skeletal finding, particularly in individuals with JAG1 mutations. Other findings include narrowing of interpeduncular ...
MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 10, also known as mody10, is related to maturity-onset diabetes of the young, and has symptoms including maturity-onset diabetes of the young An important gene associated with Maturity-Onset Diabetes of the Young, Type 10 is INS (Insulin). The drugs Moxonidine and Pitavastatin have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and breast ...
Alagille syndrome (ALGS) is an autosomal dominant condition, primarily caused by mutations in JAGGED1. ALGS is defined by cholestatic liver disease, cardiac disease and involvement of the face, skeleton, and eyes with variable expression of these features. Renal involvement has been reported though not formally described. The objective of this study was to systematically characterize the renal involvement in ALGS. We performed a retrospective review of 466 JAGGED1 mutation-positive ALGS patients. Charts were reviewed for serum biochemistries, renal ultrasounds or other imaging, urinalysis, and clinical reports from pediatric nephrologists. The clinical data were reviewed by two pediatric hepatologists and a pediatric nephrologist. Of 466 charts reviewed we found 187 yielded evaluable renal information. Of these, 73/187 were shown to have renal involvement, representing 39% of the study cohort. Renal dysplasia was the most common anomaly seen. Genotype analysis of the JAGGED1 mutations in the ...
Copyright ©2020 NORD - National Organization for Rare Disorders, Inc. All rights reserved. NORD is a registered 501(c)(3) charity organization. Please note that NORD provides this information for the benefit of the rare disease community. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. ...
Copyright ©2020 NORD - National Organization for Rare Disorders, Inc. All rights reserved. NORD is a registered 501(c)(3) charity organization. Please note that NORD provides this information for the benefit of the rare disease community. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder. ...
Inquiry About Mouse WFDC5 ELISA Kit If you hope to order it or contact us directly, please contact us via [email protected] We will get back to you in 12hrs,Thanks! ...
Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene. The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy (PPCD) and keratoconus. Two transcript variants encoding different isoforms have been found for this gene. GRCh38: Ensembl release 89: ENSG00000100987 - Ensembl, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000033080 - Ensembl, May 2017 Human PubMed Reference:. Mouse PubMed Reference:. Semina EV, Mintz-Hittner HA, Murray JC (Apr 2000). Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues. Genomics. 63 (2): 289-93. doi:10.1006/geno.1999.6093. PMID 10673340. Entrez Gene: VSX1 visual system homeobox ...
To identify genes that can repress the expression of growth regulatory molecules, a human fetal cDNA library was screened with a degenerate oligonucleotide that corresponds to the conserved stretch of 6 amino acids connecting successive zinc-finger regions in the Wilms tumor suppressor/Egr-1 family of DNA-binding proteins. One clone, designated zinc-finger protein 174 (ZNF174), corresponds to a putative transcription factor with three zinc fingers and a novel finger-associated domain, designated the SCAN box. The three Cys2-His2-type zinc fingers are positioned at the carboxyl terminus, while the 65-amino acid finger-associated SCAN box is located near the amino terminus. Chromosomal localization using somatic cell hybrid analysis and fluorescent in situ hybridization mapped the gene for ZNF174 to human chromosome 16p13.3. The 2.5-kilobase transcript from this gene is expressed in a variety of human organs, but most strongly in adult testis and ovary. Fusion of the upstream regulatory region of ...
Monoklonale und polyklonale WFDC1 Antikörper für viele Methoden. Ausgesuchte Qualitäts-Hersteller für WFDC1 Antikörper. Hier bestellen.
Chromosome abnormalities are detected in 1 of 160 live human births. Apart from sex chromosome disorders, most cases of ... As of 2004, the human nucleotide diversity was estimated to be 0.1% to 0.4% of base pairs. In 2015, the 1000 Genomes Project, ... According to a 2000 study of Y-chromosome sequence variation, human Y-chromosomes trace ancestry to Africa, and the descendants ... Long and Kittles find that rather than 85% of human genetic diversity existing in all human populations, about 100% of human ...
Humans have eaten mice since prehistoric times and still eat them as a delicacy throughout eastern Zambia and northern Malawi, ... The mouse has approximately 2.7 billion base pairs and 20 chromosomes. They can also be manipulated in ways that are illegal ... Mice are generally very docile if raised from birth and given sufficient human contact. However, certain strains have been ... Mice are no longer routinely consumed by humans elsewhere. However in Victorian Britain, fried mice were still given to ...
As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... It follows from the definition that male humans have a monoploid number of 22, while females have 23 (including one X-X pair). ... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ... Number of homologous pairs[edit]. The introduction states: a typical human somatic cell contains [...] 23 homologous chromosome ...
Nuclear DNA in a human consists of 22 pairs of autosomes and two sex chromosomes. The 22 pairs of autosomes are derived half ... The two sex chromosomes, XX in females XY in males, are also derived half from each parent. A female inherits one X from her ... Evolution & Human Behavior 24: 99-112. Full text. *Knight, C. 2008. Early human kinship was matrilineal. In N. J. Allen, H. ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ...
... is located on the minus strand of the first chromosome at 1p36.13. The gene consists of 118,172 base pairs stretching ... Genes CAPZB and LOC105376823 neighbor TMCO4 on chromosome 1. TMCO4 consists of 16 exons. There are twenty mRNA transcript ... Transmembrane and coiled-coil domains 4, TMCO4, is a protein in humans that is encoded by the TMCO4 gene. Currently, its ... The most common variant is X1, which includes all exons and spans the entire 118,172 base pairs. The most common protein ...
In humans, lactoferrin gene LTF is located on the third chromosome in the locus 3q21-q23. In oxen, the coding sequence consists ... insertions and mutations of stop codons affect the coding part and its length varies between 2,055 and 2,190 nucleotide pairs. ... Human colostrum ("first milk") has the highest concentration, followed by human milk, then cow milk (150 mg/L). Lactoferrin is ... lactoferrin shows potent activity against both human immunodeficiency virus and human cytomegalovirus replication in vitro". J ...
... is located on the short arm of Chromosome 4 (4.p14) in humans on the forward strand sense, it starts at base pair ... However, as expected, human FAM114A! is more like that of primates than any other orthologs. FAM114A1 has one paralog, FAM114A2 ... There is not proof of any interactions that the FAM114A1 protein has with other proteins in the human body. However, an ... The gene has the following neighbors on the same chromosome: TLR1: Toll-like receptor (TLR) 1 plays a role in pathogen ...
Human females are typically XX; males are typically XY. The remaining pairs of chromosome are found in both sexes and are ... In humans and other mammal species, sex is determined by two sex chromosomes called the X chromosome and the Y chromosome. ... Most animals and some plants have paired chromosomes, and are described as diploid. They have two versions of each chromosome, ... Each chromosome of a matching (homologous) pair is structurally similar to the other, and has a very similar DNA sequence (loci ...
... is located on the p arm of Chromosome 20 in position 12.1 and spans 36,554 base pairs. The NDUFAF5 gene produces a 30 ... American Journal of Human Genetics. 83 (4): 468-78. doi:10.1016/j.ajhg.2008.09.009. PMC 2561934. PMID 18940309. Gerards M, ... It does so by catalyzing the hydroxylation of Arg-73 in the NDUFS7 subunit of human complex I, which occurs before the ... is a protein that in humans is encoded by the NDUFAF5 gene. The NADH-ubiquinone oxidoreductase complex (complex I) of the ...
... a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ ... Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene. This gene is a member of the paired box (PAX ... 1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes". EMBO J. 8 (4): 1183-90 ... 2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ...
Katoh M (August 2002). "Molecular cloning and characterization of OSR1 on human chromosome 2p24". International Journal of ... "Molecular analysis of odd-skipped, a zinc finger encoding segmentation gene with a novel pair-rule expression pattern". The ... Protein odd-skipped-related 1 is a transcription factor that in humans is encoded by the OSR1 gene.[5][6][7] The OSR1 and OSR2 ... A variant human OSR1 allele which does not produce a functional transcript and found in 6% of Caucasian populations, reduces ...
Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. ... "Usually girls have XX chromosomes and boys have XY, but this killer is XYY, which means too much testosterone." Among other ... it appears that XY pairing and recombination occur normally in 47,XYY, the extra Y chromosome being lost during spermatogenesis ... In the wake of the establishment of the normal number of human chromosomes, 47,XYY was the last of the common sex chromosome ...
A bivalent is one pair of chromosomes (sister chromatids) in a tetrad. A tetrad is the association of a pair of homologous ... Impressively, human female primary oocytes remains in this tension state for decades (from the establishment of the oocyte in ... This physical strand exchange and the cohesion between the sister chromatids along each chromosome ensure robust pairing of the ... A bivalent is the association of two replicated homologous chromosomes having exchanged DNA strand in at least one site called ...
It is more complicated to infer human ancestry via autosomal chromosomes. Although an autosomal chromosome contains genes that ... "Estimating the time to the most recent common ancestor for the Y chromosome or mitochondrial DNA for a pair of individuals" ( ... of the human lineage in order of increasing age, including hominin (human-chimpanzee), hominine (human-gorilla), hominid (human ... Likewise, Y chromosome is present as a single sex chromosome in the male individual and is passed on to male descendants ...
Isoform 1 of TEX9 has a 5' UTR region of 27 base pairs and a 3' UTR region of 356 base pairs. The transcript is 1,559 base ... "TEX9 - Antibodies - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2019-05-05. "COILS Server". embnet.vital-it.ch. ... TEX9 has been experimentally determined to have interactions including coiled-coil containing 112 (CCDC112), chromosome 20 open ... Testis-expressed protein 9 is a protein that in humans is encoded the TEX9 gene. TEX9 that encodes a 391-long amino acid ...
Humans carry pairs of chromosomes, so each individual possesses two copies of the gephyrin gene. Dark blue and red horizontal ... David-Watine B (2001). "The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells ... Gephyrin is a protein that in humans is encoded by the GPHN gene.[5][6][7][8][9] ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ...
This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.. *v ... paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.[5][6][7] ... maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics. 40 (1): 108-13. doi:10.1006/geno.1996.4558. PMID ... "Identification of PITX1 as a TERT suppressor gene located on human chromosome 5". Molecular and Cellular Biology. 31 (8): 1624- ...
This drawing shows both the female (XX) and male (XY) versions of the 23rd chromosome pair. ... The human genome is stored on 23 chromosome pairs in the cell nucleus and in the small mitochondrial DNA. A great deal is now ... ENCODE: The human encyclopaedia. Nature 489 (7414) 46-48. [1] *↑ 5.0 5.1 Walsh, Fergus 2012. ENCODE: The human encyclopaedia. ... Differences between humans and chimpanzees[change , change source]. The animal that is alive now that is closest to humans is ...
Humans have one pair fewer chromosomes than the great apes. Human chromosome 2 appears to have resulted from the fusion of two ... Differences in absolute sizes of chromosomes. Chromosomes can vary in absolute size by as much as twenty-fold between genera of ... The normal human karyotypes contain 22 pairs of autosomal chromosomes and one pair of sex chromosomes (allosomes). Normal ... The karyotype of humans includes only 46 chromosomes.[15][16] The great apes have 48 chromosomes. Human chromosome 2 is now ...
"Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector ... Cosmid End-sequence profiling Fosmid Human artificial chromosome Yeast artificial chromosome O'Connor M, Peifer M, Bender W ( ... BACs can also be utilized to detect genes or large sequences of interest and then used to map them onto the human chromosome ... "Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the ...
The 23 pairs of DNA molecules called chromosomes contain the approximately 21,000 genes comprising the "human blueprint." For ... For example, childhood maltreatment in rodent models and humans has been shown to alter the epigenetics of the glucocorticoid ... Slavich, George M.; Cole, Steven W. (2013-07-01). "The Emerging Field of Human Social Genomics". Clinical Psychological Science ... Cole, Steven W. (2013-08-08). "Social Regulation of Human Gene Expression: Mechanisms and Implications for Public Health". ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... These fragments are on the order of 100 thousand base-pairs, and are the basis for most FISH probes. ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ...
In humans, TMEM247 has a single paralog (hCG17037) that has a sequence which theoretically would translate into a protein which ... Twenty potential interactions of interest have been collected below, though many more exist. Anchor base positions are based on ... The TMEM247 gene is located on chromosome 2 at c2p21, nucleotide: 46,479,565-46,484,425. It has three exons and two introns. ... distance from the start of the gene's promoter region, which itself is 1302 base pairs long. There are a number of notable ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ... "Chromosome 16". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 16". Human Genome Project Information Archive ... Human chromosome 16 pair after G-banding.. One is from mother, one is from father. ...
G-bands of human chromosome 20 in resolution 850 bphs[19] Chr. Arm[20] Band[21] ISCN. start[22] ISCN. stop[22] Basepair. start ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... Wikimedia Commons has media related to Human chromosome 20.. *. National Institutes of Health. "Chromosome 20". Genetics Home ... "Human chromosome 20: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.. ...
The genome of T. cacao is diploid, its size is 430 Mbp, and it comprises 10 chromosome pairs (2n=2x=20). In September 2010, a ... According to Maya mythology, the Plumed Serpent gave cacao to the Maya after humans were created from maize by divine ... hypothetical hexaploid ancestor underwent major fusions leading to cacao's 10 chromosome pairs. ... in the Neotropics Reflect Genetic Differentiation in Pleistocene Refugia Followed by Human-Influenced Dispersal". PLoS ONE. 7 ( ...
... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ... The extent of chromatin with phosphorylated γH2AX is about two million base pairs at the site of a DNA double-strand break. ... Loss of heterozygosity in coding region of p300 (chromosome 22q13) is present in large number of glioblastomas. Further, HATs ... "Frequent BRG1/SMARCA4-inactivating mutations in human lung cancer cell lines". Human Mutation. 29 (5): 617-22. doi:10.1002/humu ...
The chromosome of strain KIM is 4,600,755 base pairs long; the chromosome of strain CO92 is 4,653,728 base pairs long. Like Y. ... In humans and other susceptible hostsEdit. Pathogenesis due to Y. pestis infection of mammalian hosts is due to several factors ... DNA evidence indicates Y. pestis infected humans 5,000 years ago in Bronze Age Eurasia,[47] but genetic changes that made it ... It is a facultative anaerobic organism that can infect humans via the oriental rat flea.[2] It causes the disease plague, which ...
This drawin shaws baith the female (XX) an male (XY) versions o the 23rd chromosome pair. Chromosomes are shawn aligned at ... Nummer o chromosomes. 23 pairs. The human genome is the complete set o genetic information for humans (Homo sapiens). This ... Graphical representation o the idealiwed human diploid karyotype, shqwin the organisation o the genome intae chromosomes. ... information is encodit as DNA sequences within the 23 chromosome pairs in cell nuclei an in a smaa DNA molecule foond within ...
DELACHAPELLE, A; HORTLING, H; NIEMI, M; WENNSTROEM, J (1964). "XX Sex Chromosomes in a Human Male". Acta Medica Scandinavica. ... that the X and Y chromosomes share a tiny pseudoautosomal region that pairs and recombines in meiosis, (ii) that most XX males ... XX. This was the first step towards the establishment of the XX male syndrome. It is now referred to by OMIM as 46,XX sex ... The Mauro Baschirotto Award, European Society of Human Genetics, 2002. The William Allan Award, American Society of Human ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
The institute is also the first develop a test to detect chromosome translocations in human embryos to increase the success ... 2009 First Paired Kidney Exchange in New Jersey Performed, Family Health Magazine, Spring/Summer 2006 - accessed July 11, 2009 ... Human cloning is a long way off, but bioengineered kids are already here, Washington Monthly, March 2002 - accessed July 11, ... The division performed the first paired kidney exchange in New Jersey at Saint Barnabas Medical Center in 2005. Over time, it ...
They are usually found in pairs (diplococci) and do not form spores and are nonmotile.[2] As a significant human pathogenic ... For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... The genome of S. pneumoniae is a closed, circular DNA structure that contains between 2.0 and 2.1 million base pairs depending ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ...
When adenine is deaminated, it becomes hypoxanthine, which can pair with cytosine. During replication, the cytosine will pair ... It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA).[21] ... Hypoxanthine can bind to cytosine, and when the XC base pair is ... Chloroplast DNAs are circular, and are typically 120,000-170,000 base pairs long.[4][7][8] They can have a contour length of ...
... except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes ... For organisms in which the male is heterogametic, such as humans, almost all X-linked genes are hemizygous in males with normal ... chromosomes because they have only one X chromosome and few of the same genes are on the Y chromosome. Transgenic mice ... A chromosome in a diploid organism is hemizygous when only one copy is present.[2] The cell or organism is called a hemizygote ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene.[5] Presenilin-1 is one of the four ... Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH (September 2002). "Presenilin couples the paired ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ...
... genome of MAP strain K-10 was sequenced in 2005 and found to consist of a single circular chromosome of 4,829,781 base pairs, ... It has long been suspected as a causative agent in Crohn's disease in humans,[4][5] but studies have been unable to show ... Recent studies have shown that MAP present in milk can survive pasteurization, which has raised human health concerns due to ... It is the causative agent of Johne's disease, which affects ruminants such as cattle, and suspected causative agent in human ...
Sigurdsson S, Van Komen S, Petukhova G, Sung P (Nov 2002). "Homologous DNA pairing by human recombination factors Rad51 and ... condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... It is of uncertain origin[1]:160 and widely cultivated as a crop for human consumption. It is also used as a cover crop, the ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... might frown on human consumption. But in Liguria, a maritime region near northern Italy, fava beans are loved raw, and consumed ...
... even though the fox genome has 16 pairs of metacentric autosomes and the dog has 37 pairs of acrocentric autosomes.[10] ... These were foxes that were eager to have human contact. By the 10th generation 18 percent of fox pups were in this "elite" ... Using 320 microsatellites Trut and co-workers showed that all 16 fox autosomes and one X chromosome were covered, and that ... By 1976 the tamest females mated as early as December 20; some of the females gave birth and then mated again in March-April.[5 ...
... usually have a single circular chromosome,[129] with as many as 5,751,492 base pairs in Methanosarcina acetivorans,[130 ... making up about one in ten of all the prokaryotes in the human gut.[197] In termites and in humans, these methanogens may in ... Circular chromosomes, similar translation and transcription to Eukarya. Circular chromosomes, unique translation and ... after the cell's chromosome is replicated and the two daughter chromosomes separate, the cell divides.[154] In the genus ...
... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... "Apoptotic phosphorylation of histone H2B is mediated by mammalian sterile twenty kinase". Cell. 113 (4): 507-17. doi:10.1016/ ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ...
Likewise, gray wolf Y-chromosomes have also been found in a few individual male Texan coyotes.[11] This study suggested that ... By late 2012, it was estimated that there were at least 75 wolves and four breeding pairs living in the recovery areas, with 27 ... The Mexican wolf persisted longer in Mexico, as human settlement, ranching and predator removal came later than in the ... A pair of Mexican wolves with pups at Sevilleta Wolf Management Facility in Socorro, New Mexico ...
Pu'er with chrysanthemum is the most common pairing, and referred as guk pou or guk bou (菊普; Cantonese Yale: guk1 pou2; pinyin ... Larger specimens of this shape are sometimes called "human-head tea" (人頭茶), due in part to its size and shape, and because in ... This notion has recently been refuted through a systematic chromosome analysis of the species attributed to many East Asian ... Wild trees (gŭshù, 古树; literally "old tree"): Teas from old wild trees, grown without human intervention, are the highest ...
Crosland, M.W.J., Crozier, R.H. Myrmecia pilosula, an ant with only one pair of chromosomes. Science. 1986, 231 (4743): 1278. ... Ijdo, J. W., Baldini, A., Ward, D. C., Reeders, S. T., & Wells, R. A. Origin of human chromosome 2: an ancestral telomere- ... 選擇可以作用在基因而非個體的層級,即使降低個體的適應度,自私DNA仍然可以演化,造成基因組內部衝突。例子包括跳躍子、減數分裂驅動者(meiotic drivers)、殺手X染色體(killer X chromosomes)、自私粒線體(
Genes on human chromosome 11. *Genes on human chromosome 14. *Genes on human chromosome 20 ... In 1943, with the help of Arda Green, the pair illustrated that glycogen phosphorylase existed in either the a or b forms ... The cloning of the human liver glycogen phosphorylase (HLGP) revealed a new allosteric binding site near the subunit interface ... 20 p11.2-p11.1. The inhibition of glycogen phosphorylase has been proposed as one method for treating type 2 diabetes.[10] ...
HumansEdit. Humans are bilaterals and deuterostomes. In humans, the term embryo refers to the ball of dividing cells from the ... Pair-rule genes define 7 segments of the embryo within the confines of the second broad segment that was defined by the gap ... Thus, a fly whose chromosomes are mutant in both copies of the Bicoid gene but who is born from a mother carrying one normal ... As of today, human embryology is taught as a cornerstone subject in medical schools, as well as in biology and zoology programs ...
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ... Her C, Wu X, Griswold MD, Zhou F (Feb 2003). "Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor ... Räschle M, Dufner P, Marra G, Jiricny J (Jun 2002). "Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha ...
"A Y Chromosome Census of the British Isles" (PDF).. *^ Härke, Heinrich; Thomas, Mark G; Stumpf, Michael P H. "Integration ... earthsky.org/human-world/jawbone-is-earliest-evidence-of-modern-humans-in-europe ... The Acts of Union between the Kingdom of England and the Kingdom of Scotland were a pair of Parliamentary Acts passed by both ... To give warning of the enemy's approach, beacons were built, manned twenty-four hours a day by four men. Once the beacons were ...
... chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered". Proc. ... 3.2) Paired box. PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) ... to the human c-myc oncogene; presence of a long inverted repeat ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... 20, 21A) • PITX (1, 2, 3) • POU domen (PIT-1, BRN-3: A, B, C, Oktamer transkripcioni faktor: 1, 2, 3/4, 6, 7, 11) • OTX (1, 2) ...
"Final report on the human rights situation of the Roma, Sinti and travellers in Europe". The European Commissioner for Human ... "Y CHROMOSOME SINGLE NUCLEOTIDE POLYMORPHISMS TYPING BY SNaPshot MINISEQUENCING" (PDF). Bjmg.edu.mk. Retrieved 20 December 2016. ... Hancock 2002, p. xx. *^ "Dom: The Gypsy community in Jerusalem". The Institute for Middle East Understanding. 13 February 2007 ... and art present romanticized narratives of mystical powers of fortune telling or irascible or passionate temper paired with an ...
Modern Human Origins, and Complex Disease Mapping, Annual Review of Genomics and Human Genetics" (pdf). 9. Retrieved December ... In the 2003 PBS programme African American Lives, Bishop T.D. Jakes had his DNA analyzed; his Y chromosome showed[dubious - ... Udogu, Emmanuel Ike (2005). Nigeria in the Twenty-first Century: Strategies for Political Stability and Peaceful Coexistence. ... Igbo women were paired with Coromantee (Akan) men to subdue the men because of the belief that the women were bound to their ...
... a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187-91. doi:10.1002/humu.22468. PMID ... Position (base pair): 180. Total size (base pairs): 366. Forward 5′→ 3′: aactcttgataaaccgtgctg. Reverse 5′→ 3′: ... a b c The Y Chromosome Consortium 2008 *^ a b c d e f g Cristofaro; et al. (2013). "Afghan Hindu Kush: Where Eurasian Sub- ... 2004). "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-48. doi:10.1007/s00439-003-1031-4. ...
"The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East". The American Journal of Human Genetics. 69 ... that overlies Druze and Cypriot samples but not samples from other Levantine populations or paired Diaspora host populations. ... "American Journal of Human Genetics. 86 (6): 850-9. doi:10.1016/j.ajhg.2010.04.015. PMC 3032072. PMID 20560205.. ... "European Journal of Human Genetics. 15 (4): 498-500. doi:10.1038/sj.ejhg.5201764. PMID 17245410.. ...
They are found to be missing the same portion of the Y chromosome it was inserted into the chromosome of XX males. The gene for ... The genotype of the male consists of a Y chromosome paired with an X chromosome. Female gender is determined by the absence of ... Redirected from Human male reproductive system). This article is about the reproductive system in human males. For the male ... This occurs when one X chromosome contains a segment of the Y chromosome, which was inserted into the X chromosome of the ...
Evidence for linkage to NIDDM was found with polymorphic loci that map to the long arms of human chromosomes 20 and 12 in ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ...
Human heart evolved for endurance. Adaptations in heart structure and function likely enabled endurance and survival in ... reported genome-wide significance on chromosome 2q37 on a combined data set of 440 Mexican-American affected sib pairs (ASPs). ... affected sib pair;. lod,. logarithm of odds;. MLS,. maximum lod score;. MODY,. maturity-onset diabetes of the young;. BMI,. ... Twenty-four primer sets were designed to screen the entire coding region (12 exons) for sequence variation of the HNF-4α gene ...
G-bands of human chromosome 20 in resolution 850 bphs[19] Chr. Arm[20] Band[21] ISCN. start[22] ISCN. stop[22] Basepair. start ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... Wikimedia Commons has media related to Human chromosome 20.. *. National Institutes of Health. "Chromosome 20". Genetics Home ... "Human chromosome 20: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.. ...
Chromosomes, Human, Pair 20 / genetics* * Cloning, Molecular * Expressed Sequence Tags * Gene Expression Regulation / drug ... A novel androgen-regulated gene, PMEPA1, located on chromosome 20q13 exhibits high level expression in prostate Genomics. 2000 ...
Chromosome Mapping * Chromosomes, Human, Pair 20* * DNA Primers * Epilepsy, Frontal Lobe / genetics* ... The gene for ADNFLE maps to chromosome 20q13.2-q13.3 in one large Australian kindred. The neuronal nicotinic acetylcholine ...
... n dinucleotide repeat at the PLC1 locus on human chromosome 20 has been identified. Primers flanking the dinucleotide repeat ... Chromosome Mapping. Chromosomes, Human, Pair 20*. DNA, Satellite / genetics*. Diabetes Mellitus, Type 2 / genetics. Female. ... 15966046 - Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,xx/46,x.... 15324076 - ... A highly polymorphic (dC-dA)n.(dG-dT)n dinucleotide repeat at the PLC1 locus on human chromosome 20 has been identified. ...
Bulkiest Human Sequence Packs Medical Arsenal DNA Protein Analysis Of Human Chromosome 6, Counts 166,880,988 Base Pairs, Covers ...
Chromosome Deletion*. Chromosomes, Human, Pair 20 / genetics*. Genitalia, Male / abnormalities*. Heart Defects, Congenital / ... Humans. Infant, Newborn. Male. Monomeric GTP-Binding Proteins / genetics*. Tracheoesophageal Fistula / genetics*, pathology. ... Human small G proteins, ObgH1, and ObgH2, participate in the maintenance of mitochondria and nucleolar architecturesGenes Cells ... One patient had a submicroscopic de novo deletion of chromosome 20q13.33, part of which did not overlap known regions of copy- ...
Chromosome A chromosome is a structure that occurs within cells and that contains the cells genetic material. That genetic ... Humans possess twenty-three pairs including the sex chromosomes. A male has an X and a Y sex chromosome, whereas a female has ... With 46 chromosomes, humans fall well within this average.. The 46 human chromosomes are arranged in 23 pairs. One pair of the ... chromosomes align in pairs. In a normal human karyotype, there are 22 pairs of autosomal chromosomes and two sex chromosomes (X ...
Humans have forty-six chromosomes, or twenty-three pairs. When DNA is replicated before the cell divides, each chromosome has ... The DNA of eukaryotic animals is packaged into chromosomes. Chromosomes come in pairs. Like pairs of shoes, they are almost the ... Humans have 23 chromosome pairs, for a total of 46 chromosomes. Since DNA duplication has already occurred, each of the 46 ... Pairing only occurs in prophase of meiosis I. This pairing brings the same chromosome from the mother and father together in ...
Humans have eaten mice since prehistoric times and still eat them as a delicacy throughout eastern Zambia and northern Malawi, ... The mouse has approximately 2.7 billion base pairs and 20 chromosomes. They can also be manipulated in ways that are illegal ... Mice are generally very docile if raised from birth and given sufficient human contact. However, certain strains have been ... Mice are no longer routinely consumed by humans elsewhere. However in Victorian Britain, fried mice were still given to ...
... base pairs) and represents approximately 2 percent of the total DNA in cells. Learn about health implications of genetic ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 20, one copy inherited from ... Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Genet Test. 1997-1998;1(3):225-9. Citation on ... In these people, the ring chromosome may change the activity of certain genes on chromosome 20, or it may be unable to copy ( ...
Humans have 23 chromosome pairs. A typical male has a XY chromosome pair and a typical female has XX. ... X chromosome. One of the two sex chromosomes, X and Y. Humans have 23 chromosome pairs. A typical male has a XY chromosome pair ... Most animal cells except the gametes have a diploid set of chromosomes. The diploid human genome has 46 chromosomes. ... Human beings have 23 chromosomes in their reproductive cells.. Haplotype. A way of denoting the collective genotype of a number ...
Chromosomes. Genes are found on chromosomes. Every human cell contains 23 pairs of chromosomes. People get their chromosomes ... Females have two X chromosomes (XX), and males have one X and one Y chromosome (XY). ... People get one of each pair of chromosomes from their mother and one of each pair from their father. The chromosomes that form ... The FMR1 gene is on the X chromosome.. DNA. The chromosomes and genes have a special code called DNA. DNA has four chemical ...
Chromosome Mapping. genetics. Chromosomes, Human, Pair 12. genetics. Chromosomes, Human, Pair 20. genetics. ... House-dust mite sensitivity (Dpter) exceeded the empirical threshold for significant linkage at 102 cM on chromosome 20q13, ... and airway obstruction to chromosome 20q13 is unlikely to be due to chance and may result from a quantitative trait locus in ... P values applied to a genome scan of multiple asthma traits identifies a new region of significant linkage on chromosome 20q13. ...
Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic Linkage Humans Phenotype ... Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Female Finland Genetic markers Genetic ... Chromosomes, Human, Pair 9 - genetics Cohort Studies DNA Mutational Analysis De Lange Syndrome - genetics Female Humans Male ... Chromosome Mapping Chromosomes, Human, Pair 9 -
... each cell normally contains 23 pairs of chromosomes, for a total of 46. ... In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes ... The other two chromosomes, X and Y, are the sex chromosomes. This picture of the human chromosomes lined up in pairs is called ... For more information about the 23 pairs of human chromosomes:. MedlinePlus Genetics provides information about each human ...
Two X chromosomes produce a female, and one X and one Y chromosome produce a male. When a baby is conceived, it receives one X ... chromosome from the mother and either an X or a Y chromosome from the father. ... Gender or sex is determined in humans genetically by one pair of chromosomes out of a total of 23 pairs. ... The human organism contains threadlike, gene-bearing chromosomes, twenty three pairs of them. These chromosomes contain the ...
Two surveys have reconstructed the full history of the shrunken male chromosome, which provides regulatory genes that play a ... Humans have 23 pairs of chromosomes, with one member of every pair being inherited from each parent. People with an XX pair ... Before generating eggs and sperm, the 23 pairs of chromosomes line up and each chromosome exchanges chunks of DNA with its ... including the rhesus monkey and humans. The Y chromosome is so hard to decode that many early versions of the human genome ...
No such thing as a transgender human. There are XX and XY pairs of sex chromosomes. All the rest is choice or mental illness. ... I realize that there is are extremely rare genetic situations where some sex chromosome abnormalities exists. 99.999999 of " ...
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions. ... reported genome-wide significance on chromosome 2q37 on a combined data set of 440 Mexican-American affected sib pairs (ASPs). ... affected sib pair;. lod,. logarithm of odds;. MLS,. maximum lod score;. MODY,. maturity-onset diabetes of the young;. BMI,. ... Twenty-four primer sets were designed to screen the entire coding region (12 exons) for sequence variation of the HNF-4α gene ...
... the resulting human conceptus has 23 pairs of chromosomes. A pair of sex chromosomes is either XX (genetic female) or XY ( ... Owing to genes on her XX chromosomes, the female fetus produces a protein that soaks up and destroys much of the circulating ... Human mating behavior is more complicated. Like much human of behavior, it is subject to such a high degree of shaping by ... This holds not just for humans, but for other mammals as well. And I mean, of course, on average. So some particular female ...
Humans have forty-six chromosomes, arranged in twenty-three pairs. But human egg and sperm cells only have twenty-three ... For example, most cells of fruit flies have eight chromosomes, arranged as four similar pairs. But the egg or sperm cells of a ... Cells formed through meiosis have only half the number of chromosomes or genetic material of the parent cell. ... chromosomes. How does this happen?. Paragraphs 4 to 9:. For the complete story with questions: click here for printable. Weekly ...
In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes ... paired with an identical gene. .. • Human development. - the scientific study of the changes that occur in people as they age ... Chromosome. - tightly wound strand of genetic material. or DNA.. • Chromosome disorders include. Down syndrome (3 copies of ... one normal X chromosome is present in a females cells and the other sex chromosome is missing or structurally altered). , ...
Humans: 46 (23 pairs). *Sex chromosomes ore either X or Y. *Females receive XX ... human chromosomes. how many chromosomes? 46 how many pairs of chromosomes? 23. homologous ... Meiosis is the process which the number of chromosomes cell is cut in half through the separation of homologous chromosomes. ... What happens if there are 3 chromosomes on your 21 chromosome? ANSWER: DOWN SYNDROME ...
Sex chromosomes X and Y are the 23rd pair in humans. There are two Xs in females but only a single X in males, whereas the ... such as XX male syndrome and maybe XY female type gonadal dysgenesis). Interleukin-9 receptor (IL9R) gene is located at Xq28 ... Chromosomes differ in their sizes. The smallest human chromosome is chromosome 21 (50 Mb) and the largest one is chromosome 1 ( ... Despite morphological dissimilarity, human sex chromosomes pair also in male meiosis and a single obligatory recombination ...
Most living cells have a defined number of chromosomes: Human cells, for example, have 23 pairs. As cells divide, they can make ... Before an egg becomes fertilized, sets of chromosomes must pair up to pass along genetic information. This happens within each ... Animals and established cell lines are limited in their ability to mimic human disease, and results dont always translate to ... A DNA-based prenatal blood test used to screen pregnancies for Down syndrome and similar chromosome abnormalities in high-risk ...
homologous pair of X chromosomes (XX) 25 Human males have one X and one Y chromosome (XY) ... At the metaphase plate, there are paired homologous chromosomes (tetrads), instead of individual replicated chromosomes. -At ... each pair of chromosomes sorts maternal and paternal homologs into daughter cells independently (differently) of the other ... each half of the cell has a haploid set of chromosomes; each chromosome still consists of two sister chromatids ...
A typical humans DNA is contained in 23 pairs of chromosomes. The twenty-third chromosomal pair determines whether your body ... A Y chromosome is a fraction of the size of an X -- its the smallest of all the chromosomes in the human body. Its shape ... cells ahve one X chromosome and one Y chromosome. You can read more about these chromosomes and how they determine a persons ... Scientists also believed that the Y chromosome was shrinking and would disappear from human cells in the next 5 million years. ...
Genes are coiled into CHROMOSOMES. Humans typically have 46 chromosomes. Twenty-three chromosomes come from the mother, and 23 ... Women and girls generally do not show an X-linked condition because their paired gene on the other X chromosome is able to ... Females have two X chromosomes, and males have an X and a Y chromosome. ... As long as one gene of the pair is functioning, the parent has no idea that the non-working gene is present. The childs ...
  • Twenty-two of these pairs, called autosomes, look the same in both males and females. (medlineplus.gov)
  • There are 22 pairs of numbered chromosomes, called autosomes, and one pair of sex chromosomes, which can be XX or XY. (cdc.gov)
  • The other chromosomes are called autosomes . (le.ac.uk)
  • Of the 46 chromosomes in each human cell except sperm and egg cells (which have only half that number), 44 are non-sex chromosomes or "autosomes. (brighthub.com)
  • They differ from autosomes in many ways, one of which is that for males, the pairs differ in size and shape. (courierpress.com)
  • Scientists believe that the modern Y chromosome evolved from the autosomes and slowly specialized into functioning as a sex determining agent. (brighthub.com)
  • Every human cell contains 46 chromosomes, arranged as 23 pairs (called autosomes), with one member of each pair inherited from each parent at the time of conception. (kidshealth.org)
  • Twenty-two autosomes are the same in males and females. (kidshealth.org)
  • Normally, humans have 46 chromosomes, namely 22 pairs of autosomes and 1 pair of sex chromosomes. (medindia.net)
  • all chromosomes are autosomes, except for the sex chromosomes, X and Y. (rettsyndrome.org)
  • Typically there are 22 non-sex chromosome pairs called autosomes, and one sex chromosome pair. (chw.org)
  • Most human cells contain 23 pairs of chromosomes - one pair of sex chromosomes (either XX in females or XY in males) plus 22 pairs of non-sex chromosomes called autosomes. (cancer.org)
  • There are 44 autosomes and two sex chromosomes). (malereproduction.com)
  • 22 pairs are considered autosomes, and the other pair are the sex chromosomes-either XY for a boy and XX for a girl. (verywell.com)
  • Long ago, in addition to XX and XY, organisms that were the ancestors of humans carried other non-sex chromosomes in matched pairs called autosomes, Page explained. (wired.com)
  • Half of them (22 autosomes + X or Y chromosome) are inherited from the father and the other half (22 autosomes + X chromosome), from the mother. (biology-online.org)
  • MedlinePlus Genetics provides information about each human chromosome written in lay language. (medlineplus.gov)
  • These chromosomes determine individual genetics traits as well as a person's gender. (reference.com)
  • Describe ways in which engineers are involved with genetics and the human body. (teachengineering.org)
  • Researchers from a consortium of 14 institutions, including the National Human Genome Research Institute (NHGRI), Johns Hopkins Medical Institutes and the Cleveland Clinic, reported for the first time in the February 2002 issue of Nature Genetics that they have identified a gene on chromosome 1 that shows an association with an inherited form of prostate cancer in some families. (genome.gov)
  • The long-range contiguity that extensive genetic maps can supply is essential for understanding chromosome rearrangements, such as the inversions Sturtevant described in GENETICS ( Sturtevant and Beadle 1936 ), and is important for learning how genomes evolve over time. (genetics.org)
  • Dominance in genetics is a relationship between different forms ( alleles ) of a gene at a particular physical location ( locus ) on a chromosome . (thefullwiki.org)
  • We are conducting a genome scan at an average resolution of 10 centimorgans (cM) for type 2 diabetes susceptibility genes in 716 affected sib pairs from 477 Finnish families. (pnas.org)
  • 2 ) reported genome-wide significance on chromosome 2q37 on a combined data set of 440 Mexican-American affected sib pairs (ASPs). (pnas.org)
  • Here, we report our results from chromosome 20 as part of an ongoing genome scan in a large Finnish sample of affected sibships and extended families ( 14 ). (pnas.org)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (wikipedia.org)
  • Grant information: This research was supported by the Division of Intramural Research, National Human Genome Research Institute, National Institutes of Health and Human Services, United States of America. (biomedsearch.com)
  • In prokaryotes, chromosomal DNA is circular, and the entire genome is carried on one chromosome. (google.com)
  • The diploid human genome has 46 chromosomes. (google.com)
  • High-quality, low-error, gap-free DNA sequence of the human genome. (google.com)
  • Besides its long-known role of reversing the default state of being female, the Y chromosome includes genes required for the general operation of the genome, according to two new surveys of its evolutionary history. (nytimes.com)
  • In the past 12 years, with the help of the genome sequencing centers at Washington University in St. Louis and the Baylor College of Medicine in Houston, Dr. Page's group has decoded the DNA sequence of the Y chromosome of eight mammals, including the rhesus monkey and humans. (nytimes.com)
  • The Y chromosome is so hard to decode that many early versions of the human genome sequence just omitted it. (nytimes.com)
  • These active genes, of which there are 12 in humans, all have high-level roles in controlling the state of the genome and the activation of other genes. (nytimes.com)
  • The mouse genome has been sequenced, and virtually all mouse genes have human homologs. (wikipedia.org)
  • These genes are known, collectively, as the human genome. (le.ac.uk)
  • We'll kick off by discussing the Human Genome Project, the massive scientific collaboration that mapped out the sequence of all our genetic material. (coursera.org)
  • The technologies developed while mapping out the human genome ushered in a new age in DNA research. (coursera.org)
  • Robust estimation of experimentwise P values applied to a genome scan of multiple asthma traits identifies a new region of significant linkage on chromosome 20q13. (edu.au)
  • The human genome may be the most remarkable entity that exists in this entire universe, not only for its complexity, but also its ability to provide a framework for the person each of us is today. (courierpress.com)
  • As of 2015, the typical difference between an individual's genome and the reference genome was estimated at 20 million base pairs (or 0.6% of the total of 3.2 billion base pairs). (wikipedia.org)
  • Graphical representation of the idealized human karyotype , showing the organization of the genome into chromosomes. (wikipedia.org)
  • The human genome is stored on 23 chromosome pairs in the cell nucleus and in the small mitochondrial DNA . (wikipedia.org)
  • The Human Genome Project (HGP) produced a reference sequence which is used worldwide in biology and medicine. (wikipedia.org)
  • The human genome contains just over 20,000 protein -coding genes , far fewer than had been expected. (wikipedia.org)
  • It showed that the regions which are similar enough to be aligned with one another account for 2400 million of the human genome's 3164.7 million bases, [12] that is, 75.8% of the genome . (wikipedia.org)
  • This 75.8% of the human genome is 1.23% different from the chimpanzee genome in single-nucleotide polymorphisms [12] (SNPs - changes of single DNA "letters" in the genome). (wikipedia.org)
  • International Human Genome Sequencing Consortium (2001). (wikipedia.org)
  • The human genetic code, or genome, consists of about three billion pairs of chemicals known as bases. (bbc.co.uk)
  • Scientists already have a rough draft of the entire human genome. (bbc.co.uk)
  • Korenberg J. R. & Rykowski, M. C. Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands. (thefullwiki.org)
  • The human genome consists of 23 pairs or 46 total chromosomes. (malereproduction.com)
  • We tiled genomic contigs along the map to create chromosome-length genome assemblies. (genetics.org)
  • These studies identify likely genome assembly errors, characterize chromosome fusion events, distinguish lineage-independent chromosome fusions, show that the teleost genome duplication does not appear to have accelerated the rate of translocations, and reveal the stability of syntenies and gene orders in teleost chromosomes over hundreds of millions of years. (genetics.org)
  • Among teleosts with a sequenced genome, zebrafish ( Danio rerio ) has 25 haploid chromosomes like most teleosts, but platyfish ( Xiphophorus maculatus ) and medaka ( Oryzias latipes ) have 24, cod ( Gadus morhua ) 23, fugu pufferfish ( Takifugu rubripes ) 22, and both stickleback ( Gasterosteus aculeatus ) and green pufferfish ( Tetraodon nigroviridis ) have 21 ( Figure 1 ). (genetics.org)
  • The human genome contains some 3 billion chemical nucleotide bases. (bellaonline.com)
  • At the simplest level, DNA testing looks at a small number of locations in the human genome and counts these repeating patterns. (bellaonline.com)
  • Thousands of genes make up a chromosome and 46 of them, arranged in 23 pairs, define the entire human genome. (bellaonline.com)
  • One of the most ridiculous examples of this is the 2005 Nature paper by Carrell & Willard which claimed that there is as much, if not more, difference between the genome of a human male and a human female, than there is between that of a human and a chimpanzee. (cheryl-morgan.com)
  • These chromosome abnormalities are somatic, which means they are acquired during a person's lifetime and are present only in certain cells. (medlineplus.gov)
  • Deletions or duplications of genetic material from chromosome 20 can have a variety of effects, including intellectual disability, delayed development, distinctive facial features, skeletal abnormalities, and heart defects. (medlineplus.gov)
  • the most tolerable of an intolerable condition (trisomies are the most common chromosome abnormalities in spontaneous abortions). (tripod.com)
  • I realize that there is are extremely rare genetic situations where some sex chromosome abnormalities exists. (uncommondescent.com)
  • Chromosome abnormalities are detected in 1 of 160 live human births. (wikipedia.org)
  • Abnormalities in the number of chromosomes may result in genetic defects or serious he. (reference.com)
  • Chromosome 20 spans around 63 million base pairs (the building material of DNA ) and represents between 2 and 2.5 percent of the total DNA in cells . (wikipedia.org)
  • Chromosome 20 was fully sequenced in 2001 and was reported to contain over 59 million base pairs representing 99.4% of the euchromatic DNA. (wikipedia.org)
  • [5] Since then, due to sequencing improvements and fixes, the length of chromosome 20 has been updated to just over 63 million base pairs. (wikipedia.org)
  • Two strands of DNA are held together in the shape of a double helix by the bonds between base pairs. (google.com)
  • its size is generally given as its total number of base pairs. (google.com)
  • The mouse has approximately 2.7 billion base pairs and 20 chromosomes. (wikipedia.org)
  • Physical (kbp, Mbp) distance is the number of base pairs between two loci but genomic distance (cM) is the recombination fraction between two loci. (tripod.com)
  • they exclusively pair as A to T and C to G, and are known as base pairs . (dnacenter.com)
  • A strand of DNA actually looks like a twisting ladder, with the base pairs forming the rungs or steps, and the sugar and phosphate molecules creating the sidepieces of the ladder or railings of the staircase. (dnacenter.com)
  • As of 2004, the human nucleotide diversity was estimated to be 0.1% to 0.4% of base pairs. (wikipedia.org)
  • the latter figure corresponds to 0.6% of total number of base pairs. (wikipedia.org)
  • Nearly all (>99.9%) of these sites are small differences, either single nucleotide polymorphisms or brief insertions or deletions (indels) in the genetic sequence, but structural variations account for a greater number of base-pairs than the SNPs and indels. (wikipedia.org)
  • The Y chromosome is made up of some 58 million base pairs and more than 95% of it is male specific. (brighthub.com)
  • However, this applies only to single nucleotide polymorphisms , that is, changes in single base pairs only. (wikipedia.org)
  • The chromosome itself contains 87.4 million base pairs or DNA letters. (bbc.co.uk)
  • The replication of millions of base pairs of DNA is a daunting task in such a small area. (icr.org)
  • The most common variant is X1, which includes all exons and spans the entire 118,172 base pairs. (wikipedia.org)
  • We have also screened the gene for maturity-onset diabetes of the young 1, hepatic nuclear factor 4-a ( HNF-4 α) in 64 affected sibships with evidence for high chromosomal sharing at its location on chromosome 20q. (pnas.org)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 20. (medlineplus.gov)
  • Ring chromosome 20 syndrome is caused by a chromosomal abnormality known as a ring chromosome 20 or r(20). (medlineplus.gov)
  • Draft sequence data are mostly in the form of 10,000 base pair-sized fragments whose approximate chromosomal locations are known. (google.com)
  • Key points about meiosis: it halves the number of chromosomes per cell and it gives rise to new gene combinations (via crossing-over within the chromosomes and chromosomal re-assortment). (tripod.com)
  • A chromosomal disorder is a chromosome anomaly, abnormality, or aberration is a missing, extra, or irregular portion of chromosomal DNA. (majortests.com)
  • Klinefelter's Syndrome, which affects 1 in 500 to 1 in 1000 live births, is a sex chromosomal genetic disorder where the affected males have an extra X chromosome. (medindia.net)
  • Down Syndrome or trisomy 21 is a chromosomal abnormality caused by an extra chromosome 21. (bellanaija.com)
  • A '''homologous chromosome''' pertains to one of a pair of [[chromosome]]s with the same gene sequence, loci, chromosomal length, and centromere location. (biology-online.org)
  • However, there are instances wherein heterologous chromosomes do exchange chromosomal parts. (biology-online.org)
  • Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal disorder caused by a missing piece (partial deletion or monosomy) of the short arm of chromosome 4. (rarediseases.org)
  • Wolf-Hirschhorn syndrome is an extremely rare chromosomal disorder in which the WHSCR (Wolf Hirschhorn syndrome critical region) on the short arm of chromosome 4 is missing (deleted). (rarediseases.org)
  • Today we know that a chromosome contains a single molecule of DNA along with several kinds of proteins. (encyclopedia.com)
  • Chromosome 20 likely contains 500 to 600 genes that provide instructions for making proteins. (medlineplus.gov)
  • Eukaryotic genomes consist of a number of chromosomes whose DNA is associated with different kinds of proteins. (google.com)
  • This means that female, or XX, cells have a slightly different set of these powerful genes from male or XY cells, since the X and Y genes are producing slightly different proteins. (nytimes.com)
  • To put it very simply, specific DNA sequences send messages to proteins with instructions on a task to perform, such as "make a human fingernail. (dnacenter.com)
  • To store this important material, DNA molecules are tightly packed around proteins called histones to make structures called chromosomes . (le.ac.uk)
  • This DNA is tightly packed into structures called chromosomes , which consist of long chains of DNA and associated proteins. (le.ac.uk)
  • As a class, students work through an example showing how DNA provides the "recipe" for making human body proteins. (teachengineering.org)
  • Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions. (thefullwiki.org)
  • As a result of the proteins that are messed up because of the extra chromosome 21, the lens in their eyes can be opaque leading to cataracts, abnormally shaped eyeballs can cause myopia. (bellanaija.com)
  • Scientists are not sure what other factors increase the risk as the error that produces the extra chromosome occurs at random. (medindia.net)
  • Trisomies 13, 18 and 21 are examples of an extra chromosome. (chw.org)
  • These three are the more common ones seen, and the number relates to which extra chromosome they have. (chw.org)
  • When these parents have children, however, the babies end up with 3 copies of chromosome 21, but unlike nondisjunction trisomy, the extra chromosome is attached to another chromosome. (verywell.com)
  • The symptoms that a child has will depend on the percent of cells in the body which have the extra chromosome. (verywell.com)
  • In nondisjunction, for around 90% of children, the extra chromosome comes from the mother (the egg). (verywell.com)
  • Dr Daniel Tumwine, a paediatrician at The Children's Clinic in Naalya, Kampala, says Down syndrome is a condition that arises from a person having an extra chromosome in their cells. (monitor.co.ug)
  • A chromosome is a structure that occurs within cells and that contains the cell's genetic material. (encyclopedia.com)
  • Approximately 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20, in a region known as 20p12. (medlineplus.gov)
  • A full set of genetic material consisting of paired chromosomes, one from each parental set. (google.com)
  • Chromosomes are cell structures made up of genetic material (DNA). (webmd.com)
  • Cells formed through meiosis have only half the number of chromosomes or genetic material of the parent cell. (edhelper.com)
  • Deletion means that a part of a chromosome is missing, which ultimately means that the genetic material on the missing section of chromosome is also missing. (chw.org)
  • In other words, the baby (the parent that is) ends up with 45 chromosomes, but lives and functions normally because all of the genetic material required on the 21st chromosome is still present. (verywell.com)
  • During meiosis, homologous chromosomes may naturally exchange genetic material. (biology-online.org)
  • This drawing shows both the female (XX) and male (XY) versions of the 23rd chromosome pair. (wikipedia.org)
  • The 23rd chromosome pair is the one that determines gender. (bellaonline.com)
  • Once the child is conceived, either male or female, then every single somatic cell in the human body gets a copy of the sex chromosomes. (courierpress.com)
  • Several groups have reported modest evidence for linkage on chromosome 20 for type 2 diabetes ( 11 - 13 ). (pnas.org)
  • Our previous studies on endometriosis identified a region of significant linkage on chromosome 10q. (pubmedcentralcanada.ca)
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • there are not pairs in these cells anymore. (encyclopedia.com)
  • People with ring chromosome 20 syndrome have one copy of this abnormal chromosome in some or all of their cells. (medlineplus.gov)
  • Studies suggest that some genes on the long arm of the chromosome may play critical roles in controlling the growth and division of cells. (medlineplus.gov)
  • For example, most cells of fruit flies have eight chromosomes, arranged as four similar pairs. (edhelper.com)
  • But the egg or sperm cells of a fruit fly have only four chromosomes. (edhelper.com)
  • But human egg and sperm cells only have twenty-three chromosomes. (edhelper.com)
  • By reprogramming skin cells into nerve cells, researchers at Karolinska Institutet are creating cell models of the human brain. (news-medical.net)
  • Most living cells have a defined number of chromosomes: Human cells, for example, have 23 pairs. (news-medical.net)
  • As cells divide, they can make errors that lead to a gain or loss of chromosomes, which is usually very harmful. (news-medical.net)
  • The developing embryo then grows from cells that have either too many chromosomes or not enough. (kidshealth.org)
  • Although most patients with Klinefelter's Syndrome have only one extra X chromosome in their cells, approximately 10% of the patients have different forms of the disorder. (medindia.net)
  • In a small proportion of the Klinefelter individuals, a few of the body cells may be normal while the others may have an additional X chromosome. (medindia.net)
  • Hiw do humans inherit the chromosomes stored in their cells? (getrevising.co.uk)
  • Mosaicism is the presence of two or more chromosome patterns in the cells of a person. (chw.org)
  • This results in two or more cell lines, which means some cells will have 46 chromosomes and some will have a number other than 46 (either greater than or less than 46). (chw.org)
  • in 1902, the Boveri-Sutton Chromosome Theory unified the genetic laws of Mendelian inheritance with the physical structures of chromosomes observed in cells? (thefullwiki.org)
  • Pallister-Killian syndrome is a rare congenital genetic disorder that cannot be detected through prenatal blood tests because it occurs only in the chromosomes of skin cells ? (thefullwiki.org)
  • A chromosome is an organized structure of DNA and protein that is found in cells . (thefullwiki.org)
  • 3. Abstract Next generation genomic sequencing technologies have been instrumental in significantly accelerating biological research and discovery of genomes for humans, mice, snakes, plants, bacteria, virus, cancer cells, and so on. (slideshare.net)
  • 4. Introduction: DNA and RNA sequencing applications Genetic concepts and interesting facts All humans, animals, plants, and living organisms are comprised of cells. (slideshare.net)
  • Y chromosomes are probably lost when cells divide, with some cells failing to divvy up their chromosomes equally. (thefreedictionary.com)
  • Sperm and egg cells only contain half as many chromosomes (23). (cancer.org)
  • Chromosomes are passed from parents to their children through sperm and egg cells. (cancer.org)
  • The gene is expressed in human follicles, corpora lutea and endometrial carcinoma cells [ 11 - 13 ]. (pubmedcentralcanada.ca)
  • Chromosomes are microscopic structures within the cells on which the genes are aligned. (herb.com)
  • Human cells have twenty-three pairs of chromosomes, or forty-six in all. (americanromney.org)
  • DNA is found within structures in the human body known as cells. (patc.com)
  • In children with mosaic Down syndrome, not all cells have 3 copies of chromosome 21. (verywell.com)
  • Included in this group are the two sex chromosomes, simply dubbed X and Y. Cells in women's bodies have two X chromosomes (XX), while cells in men's bodies have one X and one Y (XY). (conservativetruth.org)
  • Chromosomes are tiny structures inside cells made from DNA and protein. (ducksters.com)
  • The information inside chromosomes acts like a recipe that tells cells how to function and replicate. (ducksters.com)
  • In Muntiacus muntjac (a small SE Asian deer), the number of chromosomes differs between species: the Chinese subspecies has a haploid number of 23 (like humans) but the Assam subspecies has only 3 pairs of chromosomes. (tripod.com)
  • Because of the genetic recombination that occurs between homologous pairs at meiosis, the resulting haploid gametes contain chromosomes that are genetically different from each other. (biology-online.org)
  • There are two copies of every gene in the body (except for the sex chromosomes in men): one copy of a gene is inherited from the mother and one copy of the gene is inherited from the father. (genome.gov)
  • Nonparametric analysis of chromosome 20 inheritance data collected with the MODYl-linked marker D20S197 provides evidence forlinkage to NIDDM with a P value of 0.005 in Caucasian sib pairs using affected sibpair (ASP) analyses. (diabetesjournals.org)
  • Nonparametric analysis of chromosome 12 inheritance data collected with the MODY3-linked markers D12S349 and D12S86 provides evidence for linkage to NIDDM with P values of 0.04 and 0.006, respectively, in Caucasian sib pairs using similar analyses. (diabetesjournals.org)
  • Androgen insensitivity syndrome is inherited by a defect in the androgen receptor gene on the X chromosome,and the inheritance is therefore described as "X-linked recessive. (chw.org)
  • Uniparental disomy is the inheritance of two homologous chromosomes from one parent. (thefullwiki.org)
  • However, other affected individuals do not have gene deletions associated with the ring chromosome. (medlineplus.gov)
  • Deletions involving the long (q) arm of chromosome 20 appear to be common in blood-related cancers such as leukemia and lymphoma. (medlineplus.gov)
  • Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes. (medlineplus.gov)
  • It has also been shown that regions of the Y chromosome are constantly being lost by either deletions or recombination which might - so some scientists believe - eventually wipe out the male species from the human race. (brighthub.com)
  • In two recent reports, including one in the May 11 Lancet, Page's group has presented evidence that some cases of male infertility result from specific deletions within the Y chromosome , a finding that suggests the deleted area contains a gene or genes crucial to the production of healthy sperm. (thefreedictionary.com)
  • However, individuals with PRDS were eventually found to also have deletions of the short arm of the fourth chromosome in the same region associated with WHS, so this condition is now felt to be a description of the milder end of WHS. (rarediseases.org)
  • A microsatellite polymorphism associated with the PLC1 (phospholipase C) locus: identification, mapping, and linkage to the MODY locus on chromosome 20. (biomedsearch.com)
  • A highly polymorphic (dC-dA)n.(dG-dT)n dinucleotide repeat at the PLC1 locus on human chromosome 20 has been identified. (biomedsearch.com)
  • In addition, the PLC1 gene shows linkage to the maturity-onset diabetes of the young (MODY) locus on chromosome 20 with a lod score of 4.57 at theta = 0.089. (biomedsearch.com)
  • Finally, we extended this method to show that the linkage of Dpter, atopy, BHR, FEV1, asthma, and airway obstruction to chromosome 20q13 is unlikely to be due to chance and may result from a quantitative trait locus in this region that affects several of these traits. (edu.au)
  • Each gene of a gene pair resides at a locus or location along a specific chromosome - when discussing multiple locations, we call them loci . (americanromney.org)
  • For example, the gene in sheep that determines whether that sheep will be black- or brown-based, designated as the B-locus, is located on Chromosome 2. (americanromney.org)
  • Each identified gene pair has a designation and a known locus on the chromosome of which it is part. (americanromney.org)
  • De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene. (biomedsearch.com)
  • CASE REPORT: We identified a patient with a TEF/EA, as well as cardiac and genitourinary anomalies, who was found to have a 0.7 Mb de novo deletion of chromosome 20q13.33. (biomedsearch.com)
  • This subtype causes refractory (treatmentresistant) anemia associated with a deletion of the long arm (q) of chromosome 5, designated "del(5q). (lls.org)
  • An example of a deletion syndrome is the Cri du Chat syndrome in which a portion of chromosome 5 is deleted. (chw.org)
  • If a man with a Y chromosome deletion has a male child through ICSI, then the child will also have this same type of problem. (malereproduction.com)
  • Deletion of part of the short arm of chromosome 4 (4p) causes this disorder. (rarediseases.org)
  • It is believed that a portion of band 16.3 on chromosome 4p (4p16.3) is the "critical region" for the disorder, meaning that deletion of this area leads to full expression of Wolf-Hirschhorn syndrome. (rarediseases.org)
  • A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. (medlineplus.gov)
  • Mendel's second principle, independent assortment , occurs because each pair of homologous chromosomes line up at the metaphase plate in meiosis I independently of all other pairs of homologous chromosomes. (tripod.com)
  • When a mistake occurs as a cell is dividing, it can cause an error in the number of chromosomes a person has. (kidshealth.org)
  • Klinefelter s Syndrome occurs as the result of an error during the formation of an egg or a sperm that results in a person having a XXY combination or 47 chromosomes instead of the normal 46. (medindia.net)
  • This error usually occurs when the chromosomes are distributed during the division of the egg or the sperm. (medindia.net)
  • Down syndrome-trisomy 21-occurs when there are 3 rather than 2 number 21 chromosomes (hence, trisomy 21). (verywell.com)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
  • A gene is an ordered sequence of nucleotides located in a particular position on a particular chromosome that encodes a specific functional product (i.e., a protein or RNA molecule). (google.com)
  • It consists of a specific sequence of nucleotides at a given position on a given chromosome that codes for a specific protein (or, in some cases, an RNA molecule). (le.ac.uk)
  • Scientists believe that human DNA carries about 25,000 protein-coding genes. (kidshealth.org)
  • Genetic engineers find ways to modify the DNA of organisms to create a desired trait or protein, such as making a crop resistant to a certain herbicide or making bacteria that create human insulin. (teachengineering.org)
  • Chromosomes of higher organisms ( eukaryotes ) contain DNA and protein. (thefullwiki.org)
  • A chromosome is a long strand of DNA wrapped around a special protein called histone. (cancer.org)
  • Two candidate genes on chromosome 10q, which have previously been implicated in endometriosis and uterine function, are cytochrome P450, family 17, subfamily A, polypeptide 1 ( CYP17A1 , MIM #609300) and interferon-induced protein with tetratricopeptide repeats 1 ( IFIT1 , MIM #147690) [ 7 - 9 ]. (pubmedcentralcanada.ca)
  • Humanized yeast can be used as an in vivo platform to screen for chemical inhibition of human protein drug targets. (genetics.org)
  • Transmembrane and coiled-coil domains 4, TMCO4, is a protein in humans that is encoded by the TMCO4 gene. (wikipedia.org)
  • Down's syndrome, also called trisomy 21, is caused by the presence of three copies of chromosome 21 (bottom left). (sciencephoto.com)
  • This process results in 3 copies of chromosome 21, but one copy is attached to another chromosome, often chromosome 14. (verywell.com)
  • Chromosome 20 pair in human male karyogram . (wikipedia.org)
  • There is new reason to respect the diminutive male Y chromosome. (nytimes.com)
  • those with an XY pair are male. (nytimes.com)
  • This comes about because of the fertilization of the female egg (with its 23 chromosomes, one of which is an X) with a sperm from the male (with its 23 chromosomes, one of which is either an X or a Y). (brighthub.com)
  • If the father contributes a Y chromosome, then the child will be a male. (courierpress.com)
  • Just one gene on the Y chromosome, the SRY gene, is responsible for male anatomical traits. (courierpress.com)
  • Y-chromosome DNA testing is especially helpful because the male Y-chromosome is handed down, father to son, unchanged through the generations, except for rare mutations which, in themselves, can be helpful indicators of branching. (familytreedna.com)
  • Humans born with both an X and Y chromosome are male, and those born with two X chromosomes are female. (reference.com)
  • If a child inherits XX, then it is a female, and if it inherits an X and a Y then it is a male. (brighthub.com)
  • The Y chromosome contains around 70 to 200 genes that are mostly involved in sex determination and the development of the male reproductive system and sexual characteristics. (brighthub.com)
  • The Y chromosome serves as an evolutionary tracker since it is mostly conserved and transmitted from male to male offspring, this helps us make phylogenetic studies and identification of ancestry . (brighthub.com)
  • 23 chromosomes in sperm (male gamete). (slideserve.com)
  • X chromosomes are expressed differently depending on whether you are male or female. (psychologytoday.com)
  • this is especially true if the child is male, since his only X chromosome will come from his mother. (psychologytoday.com)
  • While the male baby is in the womb, the Y chromosome begins a sequence of masculinizing events in both body and brain, particularly the exposure to androgens, which greatly impacts behavior after birth. (psychologytoday.com)
  • Diseases and conditions found only on the X chromosome are said to be sex-linked, as are rare Y-linked conditions such as male infertility . (psychologytoday.com)
  • The chromosomes are referenced as 46, XX, for a normal female or 46, XY, for a normal male. (choc.org)
  • There is a gene located on the short arm (top half) of the Y chromosome, called "SRY," which, if present, will cause the undifferentiated gonad to become testes (indicating a male) around the 6th week of fetal life. (chw.org)
  • 46 XX DSD can also result from exposure of the fetus to high levels of male hormones while in utero. (chop.edu)
  • An XX animal will be female and an XY animal is male. (simmental.org)
  • If you are male, the most common sex chromosome pair is XY and if you are female, the most common pair is XX. (chw.org)
  • Over 20% of male cases were considered idiopathic, i.e. "we don't know why. (malereproduction.com)
  • We now know that almost 20% of men with Azoospermia (no sperm production) or severe Oligospermia (sperm counts under 5-10 million for no apparent reason) will have an identifiable genetic cause of male infertility. (malereproduction.com)
  • Instead of the normal male XY pattern, an extra X chromosome is present resulting in XXY or 47 chromosomes. (malereproduction.com)
  • These chromosomes are labelled either X or Y. Male plants have an XY pair of sex chromosomes. (herb.com)
  • hance, male and female progeny appear in equal numbers (in humans, the sperm carries either an X or a Y chromosome. (herb.com)
  • Much of the literary world still reflects the male insight and thought in that not only do "students learn just only about men and their experiences and perspectives, but they [are] deprived of learning about women and their experiences and contributions to the world" (Moments, 2009, ¶20). (avroarrow.org)
  • For more than a decade, scientists have been on a quest to understand how sex is determined during fetal development -- that is, why an embryo that carries two X chromosomes is female and one that carries an X and a Y is a male. (wired.com)
  • Typically, a female will have 23 homologous chromosomes whereas a male will have 22. (biology-online.org)
  • Pairs of human chromosomes are numbered from 1 through 22, with the 23rd pair made up of the X and Y chromosomes, with XX associated with female sex, and XY associated with male sex. (rarediseases.org)
  • Because the Y-chromosome is handed down from father to sons, it can be used in tracing the exclusively male line of a family. (bellaonline.com)
  • Secondary sexual characteristics include the bright coloration of many male birds and fish, the antlers of male deer, the beard and deepened voice of human males, and the mammary glands of female mammals. (thefreedictionary.com)
  • They have XX and XO variants, but the XOs still have recognizably male behavior and play a male role in reproduction. (cheryl-morgan.com)
  • It doesn't take much critical thinking to find the flaws in that, but Richardson, good scientist that she is, goes in detail into the different methods used to calculate "difference" in the human-male/human-female case, and in the human/chimpanzee case, to show that the comparison is invalid. (cheryl-morgan.com)
  • The easiest way to explain the results of Androgen Insensitivity Syndrome (the intersex condition that gives rise to things like the aforementioned XY pregnancy) is that human bodies are default female, and need a variety of processes, triggered by the Y chromosome, to make a male. (cheryl-morgan.com)
  • But an analysis in 2012 showed that the rhesus monkey's Y chromosome had essentially the same number of genes as the human Y. This suggested that the Y had stabilized and ceased to lose genes for the last 25 million years, the interval since the two species diverged from a common ancestor. (nytimes.com)
  • Dr. Kaessmann's group, on the other hand, devised a quick method of fishing out Y chromosome genes by simply comparing the X and Y DNA of various species and assuming that any genetic sequences that did not match to the X must come from the Y. (nytimes.com)
  • DNA for each species is unique, which is why humans only create other humans, kangaroos make other kangaroos, and daisies produce only other daisies and not tulips. (dnacenter.com)
  • You can't identify a species just by its number of chromosomes , and it's not the number that matters, as much as the information contained on those chromosomes. (dnacenter.com)
  • 20 kb) of similar DNA sequence provides a further 2.7% difference between the two species. (wikipedia.org)
  • For example, a fascinating species of bacteria called Bacteroides thetaiotaomicron is designed to survive in the human GI tract in a specific microenvironment (the lumen or cavity) where it breaks down complex carbohydrates with the aid of methanogenic archaea. (icr.org)
  • Cross-species complementation can be used to generate humanized yeast, which is a valuable resource with which to model and study human biology. (genetics.org)
  • There is even a mammal species, the mole vole, that doesn't have Y chromosomes. (cheryl-morgan.com)
  • Together with results from previous studies, our findings support the evidence for more than one diabetes-predisposing gene on chromosome 20. (pnas.org)
  • The researchers reported an association between changes in a gene on chromosome 1 called ribonuclease L, or RNASEL, and an increased risk of developing prostate cancer in men from some families with a history of the disease. (genome.gov)
  • Typically, human beings have 23 pairs of chromosomes in each cell. (dnacenter.com)
  • Human beings have 20,000 to 25,000 genes. (le.ac.uk)
  • Human beings have 23 pairs of chromosomes in every cell, which makes 46 chromosomes in total. (le.ac.uk)
  • Among human beings the phenomenon of sex determination is the province of a special pair of chromosomes called the sex chromosomes. (brighthub.com)
  • As we know Homo sapiens or human beings are made from the information encoded in their genetic map which is written with DNA. (brighthub.com)
  • The Y chromosome has been sequenced and has provided valuable insights into sex determination and the evolution of human beings as a whole. (brighthub.com)
  • All human beings start as female, neurologically speaking. (psychologytoday.com)
  • It is an instruction manual that enables human beings to carry out all of the necessary life processes. (patc.com)
  • With the exception of identical twins, no two human beings will have the exact same DNA content. (patc.com)
  • If we as human beings aren't careful with what we do we are capable of mass genocide. (sciforums.com)
  • Telomeres have important functions such as preventing end-to-end fusion of chromosomes, assisting with chromosome pairing in meiosis, and ensuring complete replication of chromosome extremities. (tripod.com)
  • Find this article online O'Keefe RT, Henderson SC, Spector DL (1992) Dynamic organization of DNA replication in mammalian cell nuclei: Spatially and temporally defined replication of chromosome-specific alpha-satellite DNA sequences. (thefullwiki.org)
  • As of 2017, there are a total of 324 million known variants from sequenced human genomes. (wikipedia.org)
  • As of 2017[update], the Single Nucleotide Polymorphism Database (dbSNP), which lists SNP and other variants, listed 324 million variants found in sequenced human genomes. (wikipedia.org)
  • In order to fully read chromosome 14, scientists compared its DNA with the mouse and zebrafish genomes. (bbc.co.uk)
  • Zebrafish and human genomes provide outgroups to root observed changes. (genetics.org)
  • These include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 20p or 20q) or a missing segment of the short or long arm of the chromosome in each cell (partial monosomy 20p or 20q). (medlineplus.gov)
  • Down's syndrome - also known as trisomy 21 - is a genetic disorder caused by an additional third chromosome 21. (news-medical.net)
  • Although this genetic abnormality is found in one out of 700 births, only 20% of foetuses with trisomy 21 reach full term. (news-medical.net)
  • In trisomy , for example, there are three copies of one particular chromosome instead of the normal two (one from each parent). (kidshealth.org)
  • For example the Trisomy 21 has three number 21 chromosomes rather than the usual pair. (chw.org)
  • The peak linkage signal is located at 148.75 cM between markers D10S587 and D10S1656 and the 95% confidence interval (CI) spans a region of 8.5 megabase pairs (Mbp). (pubmedcentralcanada.ca)
  • Genetic control over sex probably began when a gene on one of the X chromosomes called SOX3 became converted to SRY, the gene that determines maleness, and thus the Y chromosome came into being. (nytimes.com)
  • One specific pair of chromosomes determines the sex or gender of the individual. (brighthub.com)
  • One of the 23 pairs determines a person's gender. (webmd.com)
  • It is the presence or the absence of the SRY gene (sex determining region of the Y chromosome) that determines which way the embryo will develop. (brighthub.com)
  • Scientists studying genes on the X and Y chromosomes have concluded that the biological element that determines sex in humans evolved from a pair of identical chromosomes hundreds of millions of years ago. (wired.com)
  • The X/Y pair determines if you are a boy or a girl. (ducksters.com)
  • This results in a brand new set of mixture of paternal and maternal origin chromosomes each one of which may have undergone rearrangement. (tripod.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)
  • No two humans are genetically identical. (wikipedia.org)
  • 1) Chromatid - one of the two identical parts of the chromosome after S phase . (thefullwiki.org)
  • Scientists report that the ancestor of today's human sex chromosomes evolved from an identical set long ago. (wired.com)
  • By studying the few shared genes on the Y chromosome that remain today, and by comparing the genes that are common to the X and Y, Page and his team were able to measure the amount of time that has passed since the gene pairs were identical. (wired.com)
  • Each chromosome of a matching pair are called "homologues" meaning "identical copies" although, as you will see here shortly, they are not quite identical. (thefullwiki.org)
  • Tabulation of allele sharing in affected sib pairs with D20S197 and D12S349 suggests that affected sibling pairs may inherit susceptibility genes simultaneously from chromosome 20 and chromosome 12. (diabetesjournals.org)