Chromosomes human pair 3. Medical search

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 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.

A genome search identifies major quantitative trait loci on human chromosomes 3 and 4 that influence cholesterol concentrations in small LDL particles. (1/1292)

Small, dense LDL particles are associated with increased risk of cardiovascular disease. To identify the genes that influence LDL size variation, we performed a genome-wide screen for cholesterol concentrations in 4 LDL size fractions. Samples from 470 members of randomly ascertained families were typed for 331 microsatellite markers spaced at approximately 15 cM intervals. Plasma LDLs were resolved by using nondenaturing gradient gel electrophoresis into 4 fraction sizes (LDL-1, 26.4 to 29.0 nm; LDL-2, 25.5 to 26.4 nm; LDL-3, 24.2 to 25.5 nm; and LDL-4, 21.0 to 24.2 nm) and cholesterol concentrations were estimated by staining with Sudan Black B. Linkage analyses used variance component methods that exploited all of the genotypic and phenotypic information in the large extended pedigrees. In multipoint linkage analyses with quantitative trait loci for the 4 fraction sizes, only LDL-3, a fraction containing small LDL particles, gave peak multipoint log10 odds in favor of linkage (LOD) scores that exceeded 3.0, a nominal criterion for evidence of significant linkage. The highest LOD scores for LDL-3 were found on chromosomes 3 (LOD=4.1), 4 (LOD=4.1), and 6 (LOD=2.9). In oligogenic analyses, the 2-locus LOD score (for chromosomes 3 and 4) increased significantly (P=0.0012) to 6.1, but including the third locus on chromosome 6 did not significantly improve the LOD score (P=0.064). Thus, we have localized 2 major quantitative trait loci that influence variation in cholesterol concentrations of small LDL particles. The 2 quantitative trait loci on chromosomes 3 and 4 are located in regions that contain the genes for apoD and the large subunit of the microsomal triglyceride transfer protein, respectively. (+info)

SAG, a novel zinc RING finger protein that protects cells from apoptosis induced by redox agents. (2/1292)

SAG (sensitive to apoptosis gene) was cloned as an inducible gene by 1,10-phenanthroline (OP), a redox-sensitive compound and an apoptosis inducer. SAG encodes a novel zinc RING finger protein that consists of 113 amino acids with a calculated molecular mass of 12.6 kDa. SAG is highly conserved during evolution, with identities of 70% between human and Caenorhabditis elegans sequences and 55% between human and yeast sequences. In human tissues, SAG is ubiquitously expressed at high levels in skeletal muscles, heart, and testis. SAG is localized in both the cytoplasm and the nucleus of cells, and its gene was mapped to chromosome 3q22-24. Bacterially expressed and purified human SAG binds to zinc and copper metal ions and prevents lipid peroxidation induced by copper or a free radical generator. When overexpressed in several human cell lines, SAG protects cells from apoptosis induced by redox agents (the metal chelator OP and zinc or copper metal ions). Mechanistically, SAG appears to inhibit and/or delay metal ion-induced cytochrome c release and caspase activation. Thus, SAG is a cellular protective molecule that appears to act as an antioxidant to inhibit apoptosis induced by metal ions and reactive oxygen species. (+info)

Role of amplified genes in the production of autoantibodies. (3/1292)

A variety of previously published studies have shown the presence of autoantibodies directed against oncogenic proteins in the sera of patients with tumors. Generally the underlying genetic aberration responsible for the induction of an immune response directed against an abnormal protein is unknown. In our studies we analyzed the role of gene amplification in the production of autoantibodies in squamous cell lung carcinoma. We screened a cDNA expression library with autologous patient serum and characterized the isolated cDNA clones encoding tumor expressed antigens termed LCEA (lung carcinoma expressed antigens). As determined by sequence analysis, the 35 identified cDNA clones represent 19 different genes of both known and unknown function. The spectrum of different clones were mapped by polymerase chain reaction (PCR) and fluorescence in-situ hybridization, showing that a majority are located on chromosome 3, which is frequently affected by chromosomal abnormalities in lung cancer. Gene amplification of 14 genes was analyzed by comparative PCR. Nine genes (65% of all analyzed genes) were found to be amplified; furthermore, most of them are also overrepresented in the pool of cDNA clones, suggesting an overexpression in the corresponding tumor. These results strongly suggest that gene amplification is one possible mechanism for the expression of immunoreactive antigens in squamous cell lung carcinoma. (+info)

Loss of heterozygosity at 3p14.2 in clear cell renal cell carcinoma is an early event and is highly localized to the FHIT gene locus. (4/1292)

The VHL tumor suppressor gene (TSG) at 3p25-26 is strongly implicated in the pathogenesis of clear cell renal cell carcinoma (cRCC). In addition, 3p14.2 and 3p21 are suspected of harboring additional TSGs in cRCC, with FHIT being a candidate TSG at 3p14.2. We examined 87 microdissected, histologically well-defined cRCCs classified according to tumor-node-metastasis (TNM) stage (stage 1, 23 cases; stage 2, 14 cases; stage 3, 24 cases; stage 4, 26 cases) and Fuhrman grade (grade 1, 24 cases; grade 2, 19 cases; grade 3, 19 cases; grade 4, 8 cases; sarcomatoid cRCC, 17 cases) for loss of heterozygosity (LOH) at 3p14.2 and 3p25-26 using a series of precisely mapped microsatellite probes. We found that LOH at 3p14.2 exceeded LOH at 3p25-26 in frequency (69% versus 48.3%; P < 0.03) and was highly localized to markers within the FHIT gene locus (D3S1300 and D3S4260), with the majority of chromosomal breakpoints also mapping to this region. In addition, 3p14.2 LOH (P < 0.03), but not 3p25-26 LOH (P = nonsignificant), was associated with lower tumor grades (grades 1-3). These findings suggest that 3p14.2 genomic deletions may be among the earliest events in cRCC pathogenesis, preceding genomic deletions at the VHL locus. FHIT, or an as yet undiscovered TSG mapping to the D3S4103-D3S4260 interval, could be the molecular target of the 3p14.2 deletions. (+info)

Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer. (5/1292)

To study the involvement of DNA mismatch-repair genes in sporadic breast cancer, matched normal and tumoral DNA samples of 22 patients were analysed for genetic instability and loss of heterozygosity (LOH) with 42 microsatellites at or linked to hMLH1 (3p21), hMSH2 (2p16), hMSH3 (5q11-q13), hMSH6 (2p16), hPMS1 (2q32) and hPMS2 (7p22) loci. Chromosomal regions 3p21 and 5q11-q13 were found hemizygously deleted in 46% and 23% of patients respectively. Half of the patients deleted at hMLH1 were also deleted at hMSH3. The shortest regions of overlapping (SRO) deletions were delimited by markers D3S1298 and D3S1266 at 3p21 and by D5S647 and D5S418 at 5q11-q13. Currently, the genes hMLH1 (3p21) and hMSH3 (5q11-q13) are the only known candidates located within these regions. The consequence of these allelic losses is still unclear because none of the breast cancers examined displayed microsatellite instability, a hallmark of mismatch-repair defect during replication error correction. We suggest that hMLH1 and hMSH3 could be involved in breast tumorigenesis through cellular functions other than replication error correction. (+info)

Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q. (6/1292)

We report on a 22 year old man with hyperpigmentation distributed along the lines of Blaschko in whom cytogenetic analysis showed mosaicism for an unusual supernumerary marker chromosome. The patient was of normal intelligence and was not dysmorphic. The marker was present in 30% of his lymphocytes and in 6% of his skin fibroblasts from a dark area, while fibroblasts from a light area showed a normal karyotype, 46,XY. We have identified the origin of the marker using fluorescence in situ hybridisation (FISH) with whole chromosome painting probes and YAC specific clones. The marker was found to consist of duplicated chromosome material from the distal part of chromosome 3q and was interpreted as inv dup(3)(qter-->q27.1::q27.1-->qter). Hence, this marker did not include any known centromeric region and no alpha satellite DNA could be detected at the site of the primary constriction. The patient was therefore tetrasomic for 3q27-q29 in the cells containing the marker chromosome. We postulate that, in our case, pigmentary anomalies may result directly from the gain of specific pigmentation genes localised on chromosome 3q. (+info)

Identification of the activating and conjugating enzymes of the NEDD8 conjugation pathway. (7/1292)

NEDD8 is a ubiquitin-like molecule that can be covalently conjugated to a limited number of cellular proteins, such as Cdc53/cullin. We have previously reported that the C terminus of NEDD8 is efficiently processed to expose Gly-76, which is required for conjugation to target proteins. A combination of data base searches and polymerase chain reaction cloning was used to identify a cDNA encoding human UBA3, which is 38% identical to the yeast homologue, 22% identical to human UBA2, and 19% identical to the C-terminal region of human UBE1. The human UBA3 gene is located on chromosome 3p13 and gave rise to a 2.2-kilobase pair transcript that was detected in all tissues. Human UBA3 could be precipitated with glutathione S-transferase (GST)-NEDD8, but not with GST-ubiquitin or GST-sentrin-1. Moreover, human UBA3 could form a beta-mercaptoethanol-sensitive conjugate with NEDD8 in the presence of APP-BP1, a protein with sequence homology to the N-terminal half of ubiquitin-activating enzyme. We have also cloned human UBC12 and demonstrated that it could form a thiol ester linkage with NEDD8 in the presence of the activating enzyme complex. Identification of the activating and conjugating enzymes of the NEDD8 conjugation pathway should allow for a more detailed study of the role of NEDD8 modification in health and disease. (+info)

Correlation of abnormal RB, p16ink4a, and p53 expression with 3p loss of heterozygosity, other genetic abnormalities, and clinical features in 103 primary non-small cell lung cancers. (8/1292)

This study was performed to determine the frequency of inactivation and clinical correlates in non-small cell lung cancer (NSCLC) of three known tumor suppressor genes [TSGs; RB, MTS1/CDKN2 (p16), and p53] and various regions of 3p loss of heterozygosity (LOH) as other major potential TSG sites. Paraffin sections from 103 resected NSCLCs were analyzed for expression of pRB, p16, and p53 by immunohistochemistry, whereas DNA from tumor and normal tissue were tested for LOH at 3p25-26, 3p21, and 3p14. Previously published LOH data for 5q, 11p, 17q, and 18q were also available. Loss of pRB or p16 expression and overexpression of p53 were considered abnormal. The immunohistochemical and LOH data were correlated with a variety of clinical parameters including stage, age, sex, smoking history, and survival. With respect to pRB, p16, and p53, the tumors could be grouped into four categories: normal for all three proteins (21%); abnormal for pRB or p16 and normal for p53 (30%); normal for pRB and p16 and abnormal for p53 (20%); and abnormal in both pathways (28%). Aberrant expression of pRB, p16, p53, and 3p LOH, either individually or in combination, was not associated with survival differences or any other clinical parameters, with the exception that pRB/pl6 abnormalities were more common in older patients (P = 0.0005). pRB and p16 expression showed a strong inverse correlation (P = 0.002), whereas there was no correlation between expression of pRB, p16, and p53. Abnormal expression of any of the three genes inversely correlated with K-ras codon 12 mutations (P = 0.004), but not with 3p LOH or LOH at other TSG loci. We conclude that resectable NSCLCs show distinct patterns of TSG inactivation, but that no clear clinical correlates exist either alone or in combination for pRB, p16, p53, and 3p abnormalities. (+info)

... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... 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 ... is a transcription factor which activates histone gene transcription on chromosomes 1 and 6 of human cells. NPAT is also a ...

https://en.wikipedia.org/wiki/Histone_modification

Genes on human chromosome 1. *Clusters of differentiation. *Immune system. *Blood antigen systems ... The mouse gene has two exons (100 and 1064 nucleotides in length respectively), separated by a 461 base pair intron. In the ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. ... "American Journal of Human Genetics. 66 (5): 1669-79. doi:10.1086/302879. PMC 1378024. PMID 10762551.. ...

https://en.wikipedia.org/wiki/Benign_ethnic_neutropenia

COL7A1 is located on the short arm of human chromosome 3, in the chromosomal region denoted 3p21.31. The gene is approximately ... COL7A1 is transcribed into an mRNA of 9,287 base pairs. In the skin, the type VII collagen protein is synthesized by ... Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene. This gene encodes the alpha chain of ... Greenspan DS, Byers MG, Eddy RL, Hoffman GG, Shows TB (1993). "Localization of the human collagen gene COL7A1 to 3p21.3 by ...

https://en.wikipedia.org/wiki/Collagen,_type_VII,_alpha_1

Nuclear DNA in a human consists of 22 pairs of autosomes and two sex chromosomes. The 22 pairs of autosomes are derived half ... Evolution & Human Behavior 24: 99-112. Full text. *Knight, C. 2008. Early human kinship was matrilineal. In N. J. Allen, H. ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ... "Hierarchical patterns of global human Y-chromosome diversity". Mol Biol Evol. 18 (7): 1189-203. doi:10.1093/oxfordjournals. ...

https://en.wikipedia.org/wiki/Matriline

The mouse has approximately 2.7 billion base pairs and 20 chromosomes. They can also be manipulated in ways that are illegal ... Humans have eaten mice since prehistoric times and still eat them as a delicacy throughout eastern Zambia and northern Malawi, ... 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 ...

https://en.wikipedia.org/wiki/Mouse

As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... 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 ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ...

https://en.wikipedia.org/wiki/Talk:Ploidy

... 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. ...

https://en.wikipedia.org/wiki/PAX1

The chapters are numbered for the pairs of human chromosomes, one pair being the X and Y sex chromosomes, so the numbering goes ... The book devotes one chapter to each pair of human chromosomes. Since one (unnumbered) chapter is required to discuss the sex ... the chapters matching the 23 pairs of human chromosomes, and notes that Genome is the third of Ridley's books that "tries to ... The impact of stress on the human body is described starting with the creation of hormones by the CYP17 gene on chromosome 10. ...

https://en.wikipedia.org/wiki/Genome_

... such as in chromosome 1. Chromosome 1 is the largest human chromosome with approximately 220 million base pairs, and would be ... Adenine pairs with thymine and guanine pairs with cytosine, forming A-T and G-C base pairs.[18][19] ... DNA usually occurs as linear chromosomes in eukaryotes, and circular chromosomes in prokaryotes. The set of chromosomes in a ... A Hoogsteen base pair is a rare variation of base-pairing.[27] As hydrogen bonds are not covalent, they can be broken and ...

https://en.wikipedia.org/wiki/Dna

"TMPRSS2-ERG gene fusion causing ERG overexpression precedes chromosome copy number changes in prostate carcinomas and paired ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. ... Transmembrane protease, serine 2 is an enzyme that in humans is encoded by the TMPRSS2 gene.[5][6] ... Teng DH, Chen Y, Lian L, Ha PC, Tavtigian SV, Wong AK (June 2001). "Mutation analyses of 268 candidate genes in human tumor ...

https://en.wikipedia.org/wiki/TMPRSS2

As the pair of chromosomes separate, each gamete only receives one of each factor. This Mendel called the Law of segregation. * ... Later, geneticists discovered that his laws were also true for other living things, even humans. Mendel's findings from his ... Of each pair of chromosomes, a gamete only gets one.. The factors (genes) determine the organism's traits, and are inherited ... When the chromosome pairs are separated in a gamete, they are randomly segregated. A gamete might have any proportion from 100 ...

https://simple.wikipedia.org/wiki/Mendelian_inheritance

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 ... International Human Genome Sequencing Consortium (2001). "Initial sequencing and analysis of the human genome" (PDF). Nature. ...

https://simple.wikipedia.org/wiki/Human_Genome_Project

For instance, in human reproduction each human cell contains 46 chromosomes in 23 pairs. Meiosis in the parents' gonads produce ... the resulting child will have 23 chromosomes from each parent genetically recombined into 23 chromosome pairs or 46 total. ... See also: Human reproduction. There are three extant kinds of mammals: monotremes, placentals and marsupials, all with internal ... Sexual reproduction is a kind of life cycle where generations alternate between cells with a single set of chromosomes (haploid ...

https://en.m.wikipedia.org/wiki/Sexual_reproduction_in_animals

It has only four pairs of chromosomes - three autosomes, and one pair of sex chromosomes. ... Similarity to humans[edit]. A March 2000 study by National Human Genome Research Institute comparing the fruit fly and human ... Drosophila flies have both X and Y chromosomes, as well as autosomes. Unlike humans, the Y chromosome does not confer maleness ... contains four pairs of chromosomes - an X/Y pair, and three autosomes labeled 2, 3, and 4. The fourth chromosome is so tiny, it ...

https://en.wikipedia.org/wiki/Drosophila_melanogaster

"Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector" ... 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 ... Yeast artificial chromosome. References[edit]. *^ O'Connor M, Peifer M, Bender W (2018). "Construction of large DNA segments in ...

https://en.wikipedia.org/wiki/Bacterial_artificial_chromosome

G-bands of human chromosome 3 in resolution 850 bphs[4] Chr. Arm[17] Band[18] ISCN. start[19] ISCN. stop[19] 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 3.. *. National Institutes of Health. "Chromosome 3". Genetics Home ... "Human chromosome 3: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.. ...

https://en.wikipedia.org/wiki/Chromosome_3_(human)

Paired box protein Pax-6, also known as aniridia type II protein (AN2) or oculorhombin, is a protein that in humans is encoded ... van Heyningen V, Little PF (1995). "Report of the fourth international workshop on human chromosome 11 mapping 1994". Cytogenet ... The characteristic paired DNA binding domain of Pax6 utilizes two DNA-binding domains, the paired domain (PD), and the paired- ... 6pax: CRYSTAL STRUCTURE OF THE HUMAN PAX-6 PAIRED DOMAIN-DNA COMPLEX REVEALS A GENERAL MODEL FOR PAX PROTEIN-DNA INTERACTIONS ...

https://en.wikipedia.org/wiki/PAX6

There are 46 chromosomes in a human, 23 pairs. Everyone has a set of chromosomes from their father and a matching set from ... They include a pair of sex chromosomes. The mother's eggs always contain an X chromosome, while the father's sperm contains ... Chromosomes come in pairs: one set from the mother; the other set from the father. Cytologists label chromosomes with numbers.[ ... Polytene chromosomes are over-sized chromosomes which have developed from standard chromosomes. Specialized cells undergo ...

https://simple.wikipedia.org/wiki/Chromosomes

Aliases for LSMEM1 include C7orf53, chromosome 7 open reading frame 53, and FLJ39575. The human mRNA is 1686 base pairs long ... In humans, LSMEM1 is located on chromosome 7q31.1. LSMEM1 neighbors the gene IFRD1 in humans. ... It also shows expression in both the fetal and adult stages of life in humans. LSMEM1 is predicted to have a 615 base pair ... In humans, LSMEM1 is very highly expressed in skeletal muscle. In humans, LSMEM1 also shows high expression in nerve tissue, ...

https://en.wikipedia.org/wiki/LSMEM1

The human gene CCDC37 is found on chromosome 3 at the band 3q21.3. It extends from base pairs 90,403,731 to 90,429,231, making ... the gene 25,500 base pairs long. It is located on the plus strand and contains 17 exons. There is only one paralog for CCDC37 ... found in humans, CCDC38. CCDC38 is located on chromosome 12. The ortholog space of CCDC37 is fairly broad including mammals, ... Coiled-coil domain-containing 37, also known as FLJ40083, is a protein that in humans is encoded by the CCDC37 gene (3q21.3). ...

https://en.wikipedia.org/wiki/Coiled-coil_domain-containing_37_(FLJ40083)

1991). "Localization of human thyrotropin receptor gene to chromosome region 14q3 by in situ hybridization". Cytogenet. Cell ... Ohno M, Zannini M, Levy O, Carrasco N, di Lauro R (March 1999). "The paired-domain transcription factor Pax8 binds to the ... 1997). "Expression, exon-intron organization, and chromosome mapping of the human sodium iodide symporter". Endocrinology. 138 ... and chromosome mapping of the human sodium iodide symporter". Endocrinology. 138 (8): 3555-8. doi:10.1210/en.138.8.3555. PMID ...

https://en.wikipedia.org/wiki/Sodium-iodide_symporter

Human PTCHD4 is located on the negative strand of chromosome 6, at 6p12.3. From there, it covers 190,350 base pairs, which ... Check date values in: ,accessdate= (help) "The Human Protein Atlas". The Human Protein Atlas. Retrieved 2015. Check date values ... "The Human Gene Compendium". Gene Cards. Retrieved 2015. Check date values in: ,accessdate= (help) "National Center for ... Sequenced distant orthologs of human PTCHD4 have been found as far back in evolution as mold, which shows a conservation of 16 ...

https://en.wikipedia.org/wiki/PTCHD4

It comprises 12 chromosomes pairs, about 26,000 genes and 750 million bp. This is roughly a quarter of the size of the human ... Jays were overwhelmingly the primary propagators of oaks before humans began planting them commercially (and still remain the ... The acorns are 2-2.5 cm (3⁄4-1 in) long, pedunculate (having a peduncle or acorn-stalk, 3-7 cm (1-3 in) long) with one to four ... Q. robur is distinguished from this species by its leaves having only a very short stalk (petiole) 3-8 mm (1⁄8-5⁄16 in) long, ...

https://en.wikipedia.org/wiki/Quercus_robur

... is located on the long arm of chromosome 1 (1.q22-1.q23) and was cloned in 1993. The gene was first localised to chromosome 1 ... DARC+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) Duffy at BGMUT Blood Group Antigen ... The mouse gene has two exons (100 and 1064 nucleotides in length respectively), separated by a 461 base pair intron. In the ... The ancestral form of extant DARC alleles in humans appears to be the FY*B allele. The gene appears to be under strong ...

https://en.wikipedia.org/wiki/Duffy_antigen_system

"C12orf66 chromosome 12 open reading frame 66 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-02-25 ... C12orf66 variant 1 is 36 Mbp in length spanning the base pairs 64,186,312 - 64,222,296 on chromosome 12. There are 3 total ... The human C12orf66 protein is 446 amino acids in length with a molecular weight of 50kdal . C12orf66 contains the domain of ... C12orf66 is a protein that in humans is encoded by the C12orf66 gene. The C12orf66 protein is one of four proteins in the ...

https://en.wikipedia.org/wiki/C12orf66

The TMEM251 gene is located on human chromosome 14, at 14q32.12, on the plus strand. The gene size is 1,277 base pairs. It ... "Q8N6I4 - TM251_HUMAN". UniProt. UnitProt. Retrieved 9 May 2015. "Human BLAT Search". UCSC Genome Browser. UCSC. Retrieved 9 May ... EST Profile data shows the tissue expression of TMEM251 in humans. TMEM251 has no paralogs in humans. It does have orthologs ... In the human body, microarray-assessed tissue expression patterns show TMEM251 to be highly expressed in ascites, bladder, bone ...

https://en.wikipedia.org/wiki/Transmembrane_protein_251

The human β-dystrobrevin gene was localized to the short arm of chromosome 2. Pair-wise comparison between α- and β- ... The human α-dystrobrevin gene is localized to chromosome 18 and consists of 23 coding exons. α-Dystrobrevin is known to be ... In humans, there are at least two isoforms of dystrobrevin, α-dystrobrevin and β-dystrobrevin. Dystrobrevins are members of ... In human, the Duchenne muscular dystrophy is a well-known muscle disease which highlights the importance of dystrophin/ ...

https://en.wikipedia.org/wiki/Dystrobrevin

... is located on the short arm of chromosome 16 in humans, in the thirteenth open reading frame. There are five transcript ... The primary transcript of this gene is 1,919 base pairs long. Using the Dotlet program, a dot plot was constructed comparing ... The human expression profile from NCBI UniGene suggests that this gene has widespread expression in many different tissues in ... "Homo sapiens chromosome 16, GRCh37.p5 Primary Assembly - Nucleotide - NCBI". Ncbi.nlm.nih.gov. 2012-04-04. Retrieved 2012-05-18 ...

https://en.wikipedia.org/wiki/METTL26

The human TBR1 gene is located on the q arm of the positive strand of chromosome 2. It is 8,954 base pairs in length. TBR1 is ... "Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins". ... Orthologs of the human TBR1 gene have been identified in chimpanzee, dog, cow, rat, mouse, and zebrafish. In mice, TBR1 has ... It was discovered that Tbr-1 is expressed by postmitotic cortical neurons in mice and in humans. One target gene of TBR1 in the ...

https://en.wikipedia.org/wiki/TBR1

In humans, aldolase B is encoded by the ALDOB gene located on chromosome 9. The gene is 14,500 base pairs long and contains 9 ... 1988). "Human aldolase B gene: characterization of the genomic aldolase B gene and analysis of sequences required for multiple ... Ali M, Sebastio G, Cox TM (1994). "Identification of a novel mutation (Leu 256→Pro) in the human aldolase B gene associated ... Aldolase+B at the US National Library of Medicine Medical Subject Headings (MeSH) Human ALDOB genome location and ALDOB gene ...

https://en.wikipedia.org/wiki/Aldolase_B

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. ...

https://en.wikipedia.org/wiki/HOXD8

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 ...

https://en.wikipedia.org/wiki/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 ...

https://en.m.wikipedia.org/wiki/Chloroplast_DNA

... 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 ...

https://en.wikipedia.org/wiki/Heterozygote

Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type ...

https://en.m.wikipedia.org/wiki/PAX8

ENCODE: the complete analysis of the human genome. References[change , change source]. *↑ Hans Winkler, Professor of Botany at ... "I propose the expression genome for the haploid chromosome set, which, together with the pertinent protoplasm, specifies the ... Genome size (base pairs) Note Virus, Bacteriophage MS2 3569 First sequenced RNA-genome[4] ... However, no single haploid chromosome set defines even the DNA of a species. Because of the huge variety of alleles carried by ...

https://simple.wikipedia.org/wiki/Genome

... 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 ...

https://en.wikipedia.org/wiki/HLA_A1-B8-DR3-DQ2

Because RPS6KA3 is located on the X chromosome, males (who possess only one copy of the X chromosome) display more severe ... "Coffin-Lowry syndrome". European Journal of Human Genetics 18, 627-633 (2010). doi:10.1038/ejhg.2009.189 ... The syndrome is caused by mutations in the RPS6KA3 gene.[1] This gene is located on the short arm of the X chromosome (Xp22.2 ... A condition is considered X-linked if the gene that causes the disorder is located on the X chromosome (one of the two sex ...

https://en.wikipedia.org/wiki/Coffin–Lowry_syndrome

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.. ... 87 (3): 469-478. doi:10.1037/0033-2909.87.3.469. PMID 7384341.. *^ a b c d e f Tadmouri GO, Nair P, Obeid T, Al Ali MT, Al ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ...

https://en.m.wikipedia.org/wiki/Line_breeding

... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp ... 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, ...

https://en.wikipedia.org/wiki/Fluorescence_in_situ_hybridization

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". ...

https://en.wikipedia.org/wiki/PSEN1

... 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 ...

https://en.wikipedia.org/wiki/Mycobacterium_avium_subspecies_paratuberculosis

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 ...

https://en.wikipedia.org/wiki/Rad51

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 ...

https://en.wikipedia.org/wiki/Fava

... 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 ... Retrieved 3 March 2018.. *^ a b Kukekova, A.V.; Trut, L.N.; Oskina, I.N.; Kharlamova, A.V.; Shikhevich, S.G.; Kirkness, E.F.; ...

https://en.wikipedia.org/wiki/Lyudmila_Trut

... 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 ...

https://en.m.wikipedia.org/wiki/Archaea

... 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. ...

https://en.wikipedia.org/wiki/Chromosome_16

Genetically, there are 74 diploid chromosomes (36 pairs). Appearance[edit]. The crab-eating fox is predominantly greyish-brown ... its habitat is slowly shrinking due to human activity such as agriculture, as well as feral dogs' encroachment on its territory ... The adult female gives birth to one or two litters per year, and the breeding pair is monogamous. The pair ranges the plains ... It either hunts individually or lives in pairs; it eats crabs, lizards and different flying animals. It is easy to domesticate ...

https://en.wikipedia.org/wiki/Crab-eating_fox

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 ...

https://en.wikipedia.org/wiki/Mexican_Wolf

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 ...

https://en.wikipedia.org/wiki/Pu

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（

https://zh.m.wikipedia.org/wiki/分子演化

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 ... 19 (3): 185-92. doi:10.1007/BF03188920. PMID 7867660.. *^ Hopfinger AJ, Reaka A, Venkatarangan P, Duca JS, Wang S (Sep 1999). " ...

https://en.wikipedia.org/wiki/Glycogen_phosphorylase

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.. *v ... "Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for ... "AIDS Research and Human Retroviruses. 6 (3): 371-80. doi:10.1089/aid.1990.6.371. PMID 2187500.. ... Human GAA genome location and GAA gene details page in the UCSC Genome Browser. ...

https://en.wikipedia.org/wiki/Acid_alpha-glucosidase

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 ...

https://en.m.wikipedia.org/wiki/Embryology

"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 ...

https://gl.m.wikipedia.org/wiki/MSH4

"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 ... "Y Chromosome Evidence for Anglo-Saxon Mass Migration".. *^ " ... Continuous human habitation in England dates to around 13,000 ...

https://en.m.wikipedia.org/wiki/History_of_England

... 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) ... ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... ARX • CDX (1, 2) • CRX • CUTL1 • DBX (1, 2) • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox ...

https://sh.wikipedia.org/wiki/Myc

"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. ... and art present romanticized narratives of mystical powers of fortune telling or irascible or passionate temper paired with an ... European Journal of Human Genetics. 9 (2): 97-104. doi:10.1038/sj.ejhg.5200597. PMID 11313742. Archived from the original (PDF) ...

https://en.wikipedia.org/wiki/Gypsies

... including humans) or W chromosome rather than by the presence of two X chromosomes or two Z chromosomes.. basal body. An ... as a pair of nucleotide polymers bound together by complementary base pairing.. depolarization. The process of reversing the ... The scientific study of non-human animal behaviour (i.e. excluding human behaviour) and usually with a focus on behaviour under ... chromosome. A threadlike strand of DNA in the cell nucleus that carries the genes in a linear order.. cilia. circadian rhythm. ...

https://en.m.wikipedia.org/wiki/Glossary_of_biology

JoVE publishes peer-reviewed scientific video protocols to accelerate biological, medical, chemical and physical research. Watch our scientific video articles.

https://www.jove.com/keyword/chromosomes+human+pair+3

A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. ... "Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... This graph shows the total number of publications written about "Chromosomes, Human, Pair 3" by people in Harvard Catalyst ... Below are the most recent publications written about "Chromosomes, Human, Pair 3" by people in Profiles. ...

https://connects.catalyst.harvard.edu/Profiles/display/Concept/Chromosomes,%20Human,%20Pair%203

https://en.wikipedia.org/wiki/Chromosome_3_%28human%29

1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus. ... 3 phenotypes from 1 allele in 1 genetic background 9 phenotype references ...

http://www.informatics.jax.org/marker/MGI:1916188

We have identified a novel gene containing CAG repeats and mapped it to chromosome 14q32.1, the genetic locus for Machado- ... Chromosomes, Human, Pair 14* * Cloning, Molecular * Female * Genes * Humans * In Situ Hybridization, Fluorescence ... CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 Nat Genet. 1994 Nov;8(3):221-8. doi: 10.1038/ ... We have identified a novel gene containing CAG repeats and mapped it to chromosome 14q32.1, the genetic locus for Machado- ...

https://pubmed.ncbi.nlm.nih.gov/7874163/?dopt=Abstract

Deletions of the proximal long arm of chromosome 15 (bands 15q11q13) are found in the majority of patients with two distinct ... Chromosome Banding * Chromosome Mapping * Chromosomes, Human, Pair 15* * Cloning, Molecular * DNA / blood ... Deletions of the proximal long arm of chromosome 15 (bands 15q11q13) are found in the majority of patients with two distinct ... However, deletions in AS occur on the maternally inherited chromosome 15, and deletions in PWS occur on the paternally derived ...

https://pubmed.ncbi.nlm.nih.gov/1714232/?dopt=Abstract

... and has been localized by in situ hybridization to the long arm of chromosome 22. As demonstrated usi ... The human stromelysin 3 (STMY3) gene, a new member of the matrix metalloproteinase (MMP) gene family, may contribute to breast ... Chromosome Mapping. Chromosomes, Human, Pair 22*. Female. Humans. Hybrid Cells. Matrix Metalloproteinase 11. ... The human stromelysin 3 (STMY3) gene, a new member of the matrix metalloproteinase (MMP) gene family, may contribute to breast ...

http://www.biomedsearch.com/nih/Assignment-human-stromelysin-3-STMY3/1639418.html

Chromosome Mapping. Chromosomes, Human, Pair 3*. DNA Primers. DNA, Satellite / genetics. Female. Genes, Dominant. Humans. ... Title: Human molecular genetics Volume: 3 ISSN: 0964-6906 ISO Abbreviation: Hum. Mol. Genet. Publication Date: 1994 Jun ... 10987648 - Isolation of cag/ctg repeats from within the chromosome 2p21-p24 locus for autosomal do.... 7647798 - The gene for ... 2688928 - Molecular cloning of chromosome i dna from saccharomyces cerevisiae: localization of a .... 8582338 - Mutation ...

http://www.biomedsearch.com/nih/Dominant-optic-atrophy-OPA1-mapped/7951248.html

The AKT1 primer pair was 5′-ACGGGCACATTAAGATCACA-3′, 5′-TGCCGCAAAAGGTCTTCATG-3′. ... human chromosome fragment;. KO mouse,. knockout mouse;. HSA,. human serum albumin;. hu-mAbs,. human monoclonal antibodies;. ES ... In addition, hybridomas producing human IgG/κ antibodies against human proteins other than HSA, human tumor necrosis factor α ( ... They mounted an antigen-specific human antibody response upon immunization with human serum albumin, and human serum albumin- ...

https://www.pnas.org/content/97/2/722?ijkey=d7efb5ab27cabadc306e7d4c5efa437b6d34499f&keytype2=tf_ipsecsha

How Can Mammals Learn New Vocalizations and Can Humans Learn How to Reduce Environmental Stressors to Maintain Critical ... 2:00 PM - 3:00 PM. , A LEVEL PHYSICS SEMINAR ROOM, ROOM A30, SMITH HALL ANNEX (CRC) ... Sciences has announced that Vosshall will receive the honor for her research into how disease-carrying mosquitoes select human ...

https://www.rockefeller.edu/events-and-lectures/44826-pairing-and-patterning-between-meiotic-chromosomes/

... "base pairs" of DNA on its chromosomes; a redwood has 38 billion. ... The same is true of humans.. "On a pretty routine basis, we ... As Californias climate changes to one of extremes and humans continue to harvest, the only coast redwoods on the planet are in ... For the first time, scientists are mapping the coast redwoods genome, a genetic code 12 times larger than that of a human ... describing how the information will be used in terms similar to how genetic material is applied in human health care. "Once the ...

https://www.washingtonpost.com/news/national/wp/2018/02/07/feature/as-climate-changes-threaten-californias-giant-redwoods-the-key-to-their-salvation-might-be-within-them/?utm_term=.815f47ab7cdf

Chromosome 3 spans about 198 million base pairs (the building blocks of DNA) and represents approximately 6.5 percent of the ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 3, one copy inherited from ... which occurs when a chromosome breaks in two places and the ends of the chromosome arms fuse together. When the ring chromosome ... Ensembl Human Map View: Chromosome 3. *Glassford MR, Rosenfeld JA, Freedman AA, Zwick ME, Mulle JG; Unique Rare Chromosome ...

https://medlineplus.gov/genetics/chromosome/3/

... similarity of DNA between chimp and humans is incorrect. ... Humans have 23 pairs of chromosomes while chimpanzees have 24. ... While 18 pairs of chromosomes are virtually identical, chromosomes 4, 9 and 12 show evidence of being remodeled.5 In other ... Evolutionary scientists believe that one of the human chromosomes has been formed through the fusion of two small chromosomes ... The Y chromosome in particular is of a different size and has many markers that do not line up between the human and chimpanzee ...

https://answersingenesis.org/genetics/dna-similarities/greater-than-98-chimp-human-dna-similarity-not-any-more/

The human cell contains 46 chromosomes arranged in 23 pairs. Most of the genes in the two chromosomes of each pair are ... The human cell contains 46 chromosomes arranged in 23 pairs. Most of the genes in the two chromosomes of each pair are ... The human cell contains 46 chromosomes arranged in 23 pairs. Most of the genes in the two chromosomes of each pair are ... Human Growth Hormone , Human growth hormone Human growth hormone (GH), also called somatotropin, is a protein that stimulates ...

https://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/pituitary-dwarfism

Genes reside on chromosomes. If a gene is like a chapter in a book, the chromosome is the book itself. Proteins and RNA ... The human genome has 3 billion pairs of bases. The order of these nucleotides are critical to the accuracy of the instructions ... The number of human genes is about 20,000-25,000. Different genes can vary in length and cover thousands of bases. ... Our mission is to advance human genetics in science, health, and society through excellence in research, education, and ...

https://www.ashg.org/education/everyone_1.shtml

Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 3: entries, gene ... type 2 Charcot-Marie-Tooth disease Chromosome 3q duplication syndrome Coproporphyria A location on human chromosome 3 is ... The following is a partial list of genes on human chromosome 3. For complete list, see the link in the infobox on the right. ... Partial list of the genes located on p-arm (short arm) of human chromosome 3: ALAS1: aminolevulinate, delta-, synthase 1 APEH: ...

https://en.wikipedia.org/wiki/Chromosome_3

We now know that in the center of every cell are pairs of chromosomes. Each chromosome is a tightly wound thread of DNA. These ... They have already charted over 2,300 of the suspected 100,000 genes that make up the human genome.. Benchmarks for Science ... A new person starts as just one tiny cell with 23 pairs of chromosomes containing a unique mixture of genes. As the person ... Genes have from a few hundred pairs to many thousands of pairs of As, Ts, Cs, and Gs joined together in a precise code that is ...

http://www.pbs.org/wgbh/aso/resources/campcurr/genetics.html

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 - genetics Comorbidity Genetic Linkage Genetic markers Genetic Predisposition to ...

https://arctichealth.org/en/list?q=topic%3A%22Chromosomes%2C+Human%2C+Pair+9+-+genetics%22&p=1&ps=&sort=title_sort+asc

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 ...

https://www.brighthub.com/science/genetics/articles/7083.aspx

https://en.wikipedia.org/wiki/Histone_modification

The researchers in Paris who invented the technique say they will have mapped about 90 per cent of the human genetic ... International efforts to decode the human genome will be speeded up dramatically by a powerful new technique for handling long ... chromosome that can store up to one million base pairs of DNA. The French. map of chromosome 21 is spread over 250 megaYACs. A ... Building physical maps of chromosomes out of cloned stretches of human. DNA is a key first goal of the international genome ...

https://www.newscientist.com/article/mg13418220-500-french-find-short-cut-to-map-of-human-genome/

For humans, the complete genome contains about 20,000 genes on 23 pairs of chromosomes. ... In comparison, the first complete sequencing of a human genome, done by the Human Genome Project, cost about $3 billion when it ... "If we could have a big enough database of human genomes then you can see the interplay of genetics. That would change how we ... A nanometer is one one-billionth of a meter or about 100,000 times smaller than the width of a human hair. ...

https://www.wired.com/2009/10/dna-analyzer-on-a-chip/

The normal human karyotype contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes. Normal karyotypes for ... The chromosomes are depicted (by rearranging a microphotograph) in a standard format known as a karyogram: in pairs, ordered by ... Chromosome Stability. Chromosome stability of cell cultures has been detected by means of the karyotipe analyses. The karyotype ... Characterization of human adult stem-cell populations isolated from visceral and subcutaneous adipose tissue. FASEB J 2009, 23 ...

http://www.mdpi.com/1422-0067/12/10/6749/htm

Each human skin cell has ___ pairs of chromosomes 46. 23. 24. 48. ...

https://www.proprofs.com/quiz-school/topic/book/3

Human Development. Gene characteristics from parents to their children. Chromosomes: 46 segments of DNA containing genes. Small ... Recessive gene: the genes feature will appear only if it is paired with another recessive gene. Still only 25% chance trait ... Human Development. Chapter 3. I-message: tells children the effect their behavior had on you (use this). You-message: threats, ... Chromosomes: 46 segments of DNA containing genes. 23 come from mother and 23 come from father. Heredity ("Nature"). Study of ...

https://prezi.com/5xegvbpskj6g/chapter-3-human-development-ap/

... of the genetic material in the human genome and spans almost 200 million base pairs, the building blocks of DNA. ... The third largest of the 23 pairs of chromosomes found in human cells is chromosome 3. It represents around 6.5% to 7% ... The third largest of the 23 pairs of chromosomes found in human cells is chromosome 3. It represents around 6.5% to 7% of the ... genetic material in the human genome and spans almost 200 million base pairs, the building blocks of DNA. ...

https://www.news-medical.net/health/Diseases-Related-to-Chromosome-3.aspx

In humans, there are a total of 46 chromosomes, half of which come from each parent. Chromosomes come in pairs. We have 23. 22 ... A piece of DNA that is 10bp long has 10 base pairs in it. Likewise, a gene that is 2Kb long has 2,000 base pairs. The human ... Base "A" always pairs with "T," and "G" always pairs with "C." Base pairs are also used as a unit of measure to indicate a ... Human evolution (that humans are descended from non-human animals by an evolutionary process of mutation and natural selection ...

https://www.xenos.org/node/2930

Chromosome. A chromosome is like a packet of coiled up DNA. Humans have 23 pairs of chromosomes. They are in the nucleus of ... A year after her birth it was discovered that the telomeres at the end of her chromosomes were shorter than would be expected ... Telomeres are distinctive structures which are found at the end of our chromosomes, made up of a short, repeating sequence of ... They protect the ends of the chromosomes and every time a cell divides, the telomeres are shortened, losing between 25-200 ...

https://www.abpischools.org.uk/topic/cloning/3/1

Inside each cell are tens of thousands of such genes, grouped into 23 pairs of chromosomes. ... WHY ONLY THE L FORM You might wonder why the D form of protein would not work equally well in humans and animals. The problem ... Inside the chromosomes are genes. The genes are attached to chromosomes like beads on a chain. Inside the genes is the ... In the nucleus of each cell are 46 chromosomes. In the chromosomes of each cell are about 10 billion of those DNA ladders. ...

http://www.jesus-is-savior.com/Evolution%20Hoax/Evolution/08.htm

Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Carcinoma; renal cell Chromosomes; human; pair 3 Chromosome ... Chromosomes, human, pair 3; Chromosome deletion; Genes, suppressor,tumor; Sequence analysis, DNA. READ MORE ... It is based on microcell mediated transfer of human chr3 into mouse or human tumor cells and analysis of the monochromosomal ... Renal cell carcinoma RCC is a malignancy of the human kidney; occurring most commonlyduring the seventh and eighth decades of; ...

https://www.dissertations.se/about/chromosomal+regions/

The following are some of the gene count estimates of human chromosome 3. (wikipedia.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)
So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
We have identified a novel gene containing CAG repeats and mapped it to chromosome 14q32.1, the genetic locus for Machado-Joseph disease (MJD). (nih.gov)
We show here that the gene encoding the GABAA (gamma-aminobutyric acid) receptor beta 3 subunit maps to the AS/PWS region. (nih.gov)
Evidence of beta 3 gene deletion was also found in an AS patient with an unbalanced 13;15 translocation but not in a PWS patient with an unbalanced 9;15 translocation. (nih.gov)
Assignment of the human stromelysin 3 (STMY3) gene to the q11.2 region of chromosome 22. (biomedsearch.com)
The human stromelysin 3 (STMY3) gene, a new member of the matrix metalloproteinase (MMP) gene family, may contribute to breast cancer cell invasion, and has been localized by in situ hybridization to the long arm of chromosome 22. (biomedsearch.com)
Using two additional chromosome 3 markers we were able to map the OPA1 gene in the region between D3S1314 and D3S1265 (3q28-qter). (biomedsearch.com)
Technical advances that enable larger stretches of human DNA to be introduced into mice allow not only for introduction of large genes or gene clusters but also correct expression of transgenes by inclusion of essential remote regulatory elements ( 1 ). (pnas.org)
If a gene is like a chapter in a book, the chromosome is the book itself. (ashg.org)
The term gene was accepted as a description of the genetic mechanism located in the chromosome. (pbs.org)
Genes have from a few hundred pairs to many thousands of pairs of As, Ts, Cs, and Gs joined together in a precise code that is unique to each gene. (pbs.org)
The human organism contains threadlike, gene-bearing chromosomes, twenty three pairs of them. (brighthub.com)
The terms chromosome and gene were used long before biologists really understood what these structures were. (encyclopedia.com)
The Watson and Crick discovery made it possible to express biological concepts (such as the gene) and structures (such as the chromosome) in concrete chemical terms. (encyclopedia.com)
The generation of animal models that accurately recapitulate these types of genetic lesions will facilitate the study of human disease, and this will eventually enable the definition of specific gene-function relationships in these clinical syndromes. (genetics.org)
CRBN cereblon [Homo sapiens (human)] - Gene - NCBI https://www.msn.com/en-us/health/medical/scientists-pinpoint-genes-common-among-people-with-severe-coronavirus-infections/ar-BB1bUCYO?ocid=msedgdhp https://www.nejm.org/doi/full/10.1056/NEJMoa2020283 Genome Decoration Page, NCBI. (wikipedia.org)
MEX3C (Mex-3 RNA Binding Family Member C) is a Protein Coding gene. (genecards.org)
In humans, a single gene may be on average around 10 to 50 thousand base pairs long. (bartleby.com)
Scientists have identified a pair of treatments that may restore brain function to autism patients who lack a gene critical to maintaining connections between neurons, according to a study from the Peter O'Donnell Jr. Brain Institute at UT Southwestern Medical Center. (news-medical.net)
This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. (nih.gov)
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)
However, because VHL mutations have not been detected in sporadic pheochromocytomas, VHL and/or another chromosome arm 3p gene may be involved in the etiology of these tumors. (elsevier.com)
The gene science community has made leaps and bounds in the last two decades since the start of the Human Genome Project and the discovery of techniques to rapidly sequence DNA, but it still has a long way to go. (hackaday.com)
Merge is a controversial belief by some that human language faculty arose in humans through a single gene mutation, rather the evolving gradually. (science20.com)
Efficient studies of long-distance Bmp5 gene regulation using bacterial artificial chromosomes. (nih.gov)
Here we describe the use of bacterial artificial chromosome clones to rapidly survey hundreds of kilobases of DNA for potential regulatory sequences surrounding the mouse bone morphogenetic protein-5 (Bmp5) gene. (nih.gov)
We have cloned and characterized the Na,K-ATPase β3 subunit gene (ATP1B3), and a β3 subunit pseudogene (ATP1B3P1), from a human PAC genomic library. (elsevier.com)
Comparison of the promoter region of the human and mouse β3 subunit gene reveals a high degree of homology within a 300-bp segment located immediately upstream of the translation start site, suggesting that control elements that serve to regulate the cell-specific expression of the β3 subunit gene are likely to be located within this conserved region. (elsevier.com)
Each gene is composed of 2 alternative copies known as alleles, one originating from the maternally derived chromosome and the other originating from the paternally derived chromosome of each chromosome pair. (aappublications.org)
2010. Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. (answers.com)
Instead, it is folded in a very organized way to ensure that different parts of the genome, sometimes several thousand base pairs away from each other, can intercommunicate for appropriate gene functions," says Nicola Iovino, group leader at the MPI of Immunobiology and Epigenetics in Freiburg. (mpg.de)
In sexually reproducing organisms, each gene in an individual is represented by two copies, called alleles -one on each chromosome pair. (creationwiki.org)
The patient's sequencing data showed a 1-Mb loss of heterozygosity region in chromosome 4, including the LRBA gene. (frontiersin.org)
The CF gene is found on chromosome number 7. (rchsd.org)
Scientists don't know exactly why the CF gene evolved in humans, but they have some evidence to show that it helped to protect earlier generations from the bacteria that cause cholera, a severe intestinal infection. (rchsd.org)
Yo will use chromosome and gene models to create four offspring and determine their genotypes and phenotypes. (biologycorner.com)
Artificial chromosomes, which harbor hundreds of kilobases of genomic DNA, preserve a large sequence landscape containing most, if not all, regulatory elements controlling the expression of a particular gene. (physiology.org)
The completion of the sequencing phase of the Human Genome Project has provided important raw data for the mining of regulatory elements governing the expression profile of a gene ( 54 ). (physiology.org)
An important outgrowth of the Human Genome Project that has assisted investigators in defining the boundaries of genomic DNA necessary for the complete expression of a particular gene has been the development of artificial chromosomes ( 4 , 50 ). (physiology.org)
Short gene sections called primers that bind only to chromosome sections with a high degree of sequence complementarity were used to locate genes of interest on the autosomes. (icr.org)
2015. Sex chromosome-to-autosome transposition events counter Y-chromosome gene loss in mammals . (icr.org)
1989. Anterior boundaries of Hox gene expression in mesoderm-derived structures correlate with the linear gene order along the chromosome . (icr.org)

Chromosome 3 spans almost 200 million base pairs (the building material of DNA ) and represents about 6.5 percent of the total DNA in cells . (wikipedia.org)
The size of the deletion varies among affected individuals, from approximately 150,000 DNA building blocks (base pairs) to 11 million base pairs and can include 4 to 71 known genes. (medlineplus.gov)
Most people with 3q29 microdeletion syndrome are missing about 1.6 million base pairs, also written as 1.6 megabases (Mb), on the long (q) arm of the chromosome at a position designated q29. (medlineplus.gov)
Chimpanzees and other apes have about 23 kilobases (a kilobase is 1,000 base pairs of DNA) of repeats. (answersingenesis.org)
1000 base pairs long. (answersingenesis.org)
Surprisingly, the indels added an additional 3.4 % of base pairs that were different. (answersingenesis.org)
The technology propelling the French effort is the 'megaYAC', an artificial chromosome that can store up to one million base pairs of DNA. (newscientist.com)
3 billion base pairs of the human genome would require more than 30 000 megaYACs, says Cohen. (newscientist.com)
A conventional YAC can only hold up to 200 000 base pairs of DNA: it is the fivefold expansion of this capacity which makes the megaYAC such a boon to genome mappers. (newscientist.com)
It represents around 6.5% to 7% of the genetic material in the human genome and spans almost 200 million base pairs, the building blocks of DNA. (news-medical.net)
Around 146 base pairs (bp) of DNA wrap around this core particle 1.65 times in a left-handed super-helical turn to give a particle of around 100 Angstroms across. (wikipedia.org)
This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of nucleosomes (also referred to as linker DNA ). (wikipedia.org)
Chromosome 16 spans more than 90 million DNA building blocks (base pairs) and represents almost 3 percent of the total DNA in cells. (medlineplus.gov)
16p11.2 deletion syndrome is caused by a deletion of about 600,000 base pairs, also written as 600 kilobases (kb), at position 11.2 on the short (p) arm of chromosome 16. (medlineplus.gov)
People with this chromosomal abnormality are missing a sequence of about 520,000 base pairs, also written as 520 kb, at position p12.2 on chromosome 16. (medlineplus.gov)
A chromosome consists of millions of base pairs, some of which are called genes. (bartleby.com)
Chromosome 16 spans about 89 million base pairs (the building blocks of DNA) and represents almost 3 percent of the total DNA in cells. (news-medical.net)
The Y chromosome is made up of some 58 million base pairs and more than 95% of it is male specific. (brighthub.com)
The human genome, with 3 billion base pairs can store up to 750MB of data. (hackaday.com)
For example, the human genome has approximately six billion base pairs (6 Gbp) in 46 chromosomes (22 paired autosomes + sex chromosomes). (scienceblogs.com)
A human DNA strand has 3 billion base pairs. (worldofweirdthings.com)
The blackened boxes indicate base pairs that are identical in all three species. (nih.gov)
The human genome contains approximately 3 billion base pairs (bps) of DNA, which are organized in 23 chromosomes. (frontiersin.org)
The information of the human genome is encoded by approximately 3 billion DNA base pairs and packaged into 23 pairs of chromosomes. (mpg.de)
Up until now, centromeres, which are specialized structural components of chromosomes, have been represented in the reference by gaps of 3 million base pairs. (nature.com)
The completely gapless DNA sequencing was produced by using new sequencing technologies that enable much longer reads of strings of DNA base pairs . (darkdaily.com)
With nanopore sequencing we get ultra-long reads of hundreds of thousands of base pairs that can span an entire repeat region , so that bypasses some of the challenges," said Karen Miga, PhD , a post-doctoral research scientist at the UCSC Genomics Institute and lead author of the study, in a UCSC news release . (darkdaily.com)
It encompasses an area of very repetitive DNA that spans 3.1 million base pairs. (darkdaily.com)
For me, the idea that we can put together a 3-megabase-size [3-million base pairs] tandem repeat is just mind-blowing. (darkdaily.com)
The DNA in the two BRCA genes, like that in other human genes, is a double helical molecule, each side of which is joined, like the rungs of a ladder, by two complementary chemicals called base pairs-adenine, which always links to thymine, and cytosine, which always links to guanine. (nybooks.com)

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)
Scientists believe that the modern Y chromosome evolved from the autosomes and slowly specialized into functioning as a sex determining agent. (brighthub.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)
3 This conclusion was largely based on a study by Jennifer Hughes and her team.The study used the assumption that "the mammalian X and Y chromosomes evolved from a single pair of autosomes [non-sex chromosomes]. (icr.org)
I am researching from the perspective that purposeful function exists for the different locations on the autosomes of the various genes identified as once existing on the Y chromosome. (icr.org)

3p deletion syndrome is caused by the deletion of the end of the small (p) arm of chromosome 3. (medlineplus.gov)
In some individuals, the deletion involves material near the end of the chromosome but does not include the tip (the telomere). (medlineplus.gov)
3q29 microdeletion syndrome is a condition that results from the deletion of a small piece of chromosome 3 in each cell. (medlineplus.gov)
This deletion affects one of the two copies of chromosome 16 in each cell. (medlineplus.gov)
A 16p11.2 duplication is an extra copy of the same 600 kb segment of chromosome 16 that is missing in 16p11.2 deletion syndrome (described above). (medlineplus.gov)
In particular, studies indicate that individuals with a 16p12.2 microdeletion who have neurological or behavioral problems often have an additional, larger deletion or duplication affecting another chromosome. (medlineplus.gov)
It can be caused by a deletion of genetic material on chromosome 16 in a region known as 16q24.1. (medlineplus.gov)
Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen idependently in different ethnic populations. (nih.gov)
This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. (nih.gov)
Patients have a 3 million base pair deletion of one copy of chromosome 22q11.2. (yu.edu)
Children with a deletion of a portion of the long arm of one of the two copies of chromosome 18 (18q) have numerous neurologic deficiencies ( 1 ), with a high incidence of dysmyelination of about 95%, as reported from MR imaging studies ( 2 ). (ajnr.org)
This finding suggested that either one copy of the paternal chromosome 4 bore a deletion including the LRBA locus, or the patient inherited two copies of the mutant maternal LRBA allele. (frontiersin.org)
An example of disorder caused by deletion is Wolf-Hirschhorn Syndrome which occurs due to partial deletion of the short arm of chromosome 4. (bartleby.com)
Chromosome 22q11.2 Deletion Syndrome (22q11DS) is the most common microdeletion disorder in humans. (drexel.edu)
In roughly 90% of affected individuals, a de novo heterozygous ~3 million base pair deletion occurs from an aberrant recombination mediated by low copy repeats (LCRs) in the chromosome 22q11.2 region. (drexel.edu)

Example: A human sperm or egg, which is haploid, contains 23 chromosomes (n=23). (csbsju.edu)
However, the haploid genome, 3 Gbp, is often used as the measurement of genome length. (scienceblogs.com)
This is the means by which a human being produces haploid (containing only 23 chromosomes) sex cells, or gametes. (thefreelibrary.com)
Hence, gametes are said to be haploid-having only a single set of homologous chromosomes. (creationwiki.org)
Combine to make a diploid cell (n+ n =2n) -"fertilized egg" Examples of chromosome counts in other organisms Organism n (haploid number) 2n (diploid number) Humans 23 46 Gorillas 24 48 Dogs 39 78 Shrimp 127 254 Sweet potatoes 45 90 # of chrom. (coursehero.com)
State which cells in the human body are diploid and which are haploid. (coursehero.com)

When these two special cells merge together, the two half sets of chromosomes combine to produce a fertilized egg or seed. (pbs.org)
Diploid - cell/organism that contains two sets of chromosomes. (csbsju.edu)
In reality every cell has two sets of chromosomes, so nearly every human cell has 1.5GB of data shoved inside. (hackaday.com)

They are in the nucleus of every human cell. (abpischools.org.uk)
Inside that nucleus are, among other complicated things, chromosomes. (jesus-is-savior.com)
Each cell (except for red blood cells) contains a nucleus that houses these chromosomes. (cdc.gov)
In prokaryotes, or cells without a nucleus, the chromosome is merely a circle of DNA. (encyclopedia.com)
In eukaryotes, or cells with a distinct nucleus, chromosomes are much more complex in structure. (encyclopedia.com)
During mitosis, the nucleus divides resulting in two daughter cells each with the same chromosome number as the parent. (csbsju.edu)
The chromosomes themself occupy distinct positions within the nucleus, known as chromosome territories, that also enable efficient packaging and organization of the genome. (mpg.de)

The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 3. (medlineplus.gov)
Chromosome engineering in mice enables the construction of models of human chromosomal diseases and provides key reagents for genetic studies. (genetics.org)
ONE of the most common causes of human developmental disorders and fetal loss are chromosomal abnormalities such as inversions, duplications, deficiencies, translocations, and nondisjunction. (genetics.org)
A chromosomal disorder is a chromosome anomaly, abnormality, or aberration is a missing, extra, or irregular portion of chromosomal DNA. (majortests.com)
We report here the use of fluorescent in situ hybridization to examine the chromosomal complement of interphase neuronal nuclei in the adult human brain. (jneurosci.org)
Down Syndrome is the most common example of a trisomy chromosomal abnormality among humans. (bartleby.com)

Stanford researcher Stephen Quake recently showed the Heliscope Single Molecule Sequencer that can sequence a human genome in about four weeks at a cost of $1 million. (wired.com)
Telomeres are distinctive structures which are found at the end of our chromosomes, made up of a short, repeating sequence of DNA bases. (abpischools.org.uk)
2004). "The sequence and analysis of duplication-rich human chromosome 16" (PDF). (wikipedia.org)
The DNA sequence of every person's genome is the blueprint for his or her development from a single cell to a complex, integrated organism that is composed of more than 10~3 (10 million million) cells. (nap.edu)
Encoded in the DNA sequence are fundamental determinants of those mental capacities- learning, language, memory essential to human culture. (nap.edu)
Unprecedented advances in molecular and cellular biology, in bio- chemistry, in genetics, and in structural biology-occurring at an accelerating rate over the past decade define this as a unique and opportune moment in our history: For the first time we can envision obtaining easy access to the complete sequence of the 3 billion nucleotides in human DNA and deciphering much of the information contained therein. (nap.edu)
To understand the reasons for varied severity, we are analyzing whole genome sequence from human subjects with 22q11.2DS to identify genetic modifiers. (yu.edu)
Using these DNA samples, the researchers scanned the same small section of chromosome 3 for SNPs that differed in sequence between individuals with and without coronary heart disease. (science20.com)
Approximately 3 billion pairs of nucleotides are in the chromosomes of a human cell, and each person's genetic makeup has a unique sequence of nucleotides. (kidshealth.org)
He and his team want to use the Y chromosome sequence from an actual person's genome: mine. (wired.com)
Not only has Genome Reference Consortium build 38 (GRCh38) eliminated some pesky previous gaps, it will be the first human reference assembly to have sequence information for centromeres. (nature.com)
Long and accurate polymerase chain reaction, sequencing, and in silico analyses facilitated the complete sequence annotation of a BAC harboring human SM-Calp (hSM-Calp). (physiology.org)
Unfortunately, these same characteristics make the LCRs difficult to reliably sequence and identify rearrangement breakpoints within the homologous chromosome 22 LCRs in individuals with 22q11DS. (drexel.edu)

Klinefelter's syndrome is a genetic disorder in which there is at least one extra x chromosome to a normal human male karyotype, for a total of 47 chromosomes. (healthtap.com)
It is a genetic disorder in which there is an extrax chromosome for a total of 47 chromosomes, and happens in 1in500to1in1000live male births it causes hypogonadism (decrease testosterone ), less muscular body, less facial and body hair , broader hips and teenagers10% have gynecomastia (large breasts), weaker bones and low energy the genetic variation is not reversible.With ivf technology10%successful preg. (healthtap.com)
An individual who suffers from Down Syndrome, also known as Trisomy 21 would have three copies of chromosome 21 instead of the usual two, resulting in a total of 47 chromosomes. (bartleby.com)

In the resultant double-Tc/double-knockout mice, substantial proportion of the somatic cells retained both hCFs, and the rescue in the defect of Ig production was shown by high level expression of human Ig heavy and κ chains in the absence of mouse heavy and κ chains. (pnas.org)
In our previous study ( 7 ), various hCFs were introduced into mouse embryonic stem (ES) cells via microcell-mediated chromosome transfer, and viable chimeric mice were produced from them. (pnas.org)
This division, meiosis, results in cells that have half the number of chromosomes as the original cell. (pbs.org)
Indeed, stem cells seem to give the best chance for human tissue engineering, and particularly, mesenchymal stem cells (MSCs) represent a great tool in regenerative medicine because of their ability to differentiate into a variety of specialized cells in addition to their immuno-privileged characteristics [ 1 , 2 ]. (mdpi.com)
The third largest of the 23 pairs of chromosomes found in human cells is chromosome 3. (news-medical.net)
When the diploid cells are duplicated and condensed during mitosis , the result is about 120 micrometers of chromosomes . (wikipedia.org)
COILED STRIPS (*#3/33 The Origin of DNA*) Your own DNA is scattered all through your body in about 100 thousand billion specks , which is the average number of living cells in a human adult. (jesus-is-savior.com)
The human body has nearly 1013 cells. (cdc.gov)
A chromosome is a structure that occurs within cells and that contains the cell's genetic material. (encyclopedia.com)
To begin to define functional information for a small portion of chromosome 11 , deficiencies, duplications, and inversions were constructed in embryonic stem cells with sizes ranging from 1 Mb to 22 cM. (genetics.org)
Alterations in chromosomes also occur spontaneously in somatic cells during the life of the organism, and these alterations are usually less of a problem to the organism. (genetics.org)
Introduction All living organisms are composed of cells, each no wider than a human hair. (nap.edu)
Each of our cells contains the same complement of DNA constituting the human genome (Figure 1-1. (nap.edu)
It is based on microcell mediated transfer of human chr3 into mouse or human tumor cells and analysis of the monochromosomal hybrids after their growth in vivo. (dissertations.se)
If a parental cell has 1000 chromosomes, or even just 1 chromosome, the daughter cells have 1000 and 1 chromosomes, respectively, after mitosis. (csbsju.edu)
Mitosis results in daughters with the same chromosome number as the parental cells. (csbsju.edu)
The findings could lead to answers to questions concerning the mechanisms leading to birth defects and chromosome instability in cancer cells. (news-medical.net)
This extra copy of chromosome 21 is present in the cells of the body and is responsible for the typical features of Down syndrome. (mydr.com.au)
In children with mosaic Down syndrome, not all cells have 3 copies of chromosome 21. (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)
3 Special cells, sperm and egg cells, are used in sexual reproduction. (edhelper.com)
Cells formed through meiosis have only half the number of chromosomes or genetic material of the parent cell. (edhelper.com)
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 replacing select nucleo-tides-the ACGTs of life, which are scattered throughout the chromosomes-and changing, say, a T to an A or a C to a G in a process called recoding, Church envisions being able to make cells resistant to viruses. (wired.com)
Church and others who are working to synthesize human DNA have created their own effort within GP-Write-the Human Genome Project-Write, or HGP-Write-and its prospects for success have biologists abuzz over the potential for treating diseases and for creating bioengineered cells and possibly even organs. (wired.com)
Theoretically, scientists could one day manufacture genomes, human or otherwise, almost as easily as writing code on a computer, transforming digital DNA on someone's laptop into living cells of, say, Homo sapiens . (wired.com)
With the potential to give rise to all somatic cell types, human embryonic stem cells (hESC) have generated enormous interest as agents of cell replacement therapy. (pnas.org)
Human embryonic stem cells (hESCs) ( 1 ) can be maintained in culture in a self-renewing state and differentiate into all three embryonic germ layers ( 2 ). (pnas.org)
The maturation of germ line stem cells into gametes requires that the diploid number of each chromosome be reduced by half. (creationwiki.org)
Cells that have 2 copies of each chromosome- All cells (except gametes) have 2 copies of each of the 23 chrom. (coursehero.com)
3. Describe the major events of cell division that enable the genome of one cell to be passed on to two daughter cells. (coursehero.com)
The early human embryo contains many stem cells. (abpischools.org.uk)
Mouse 3T3 fibroblast cells are extensively used as feeder layers to enhance the cultivation of human keratinocyte in vitro. (google.es)
Normal human reproductive cells have 23 chromosomes. (neowin.net)

Deletions of the proximal long arm of chromosome 15 (bands 15q11q13) are found in the majority of patients with two distinct genetic disorders, Angelman syndrome (AS) and Prader-Willi syndrome (PWS). (nih.gov)
They found just such a region: a small section of the long arm of chromosome 3 where just a handful of genes were located. (science20.com)

Other studies have found changes on the short arm of chromosome 7. (encyclopedia.com)

In this formula, the abbreviations N 1 , N 2 , N 3 , and N 4 stand for the four different nucleotides used in making DNA. (encyclopedia.com)
When the cell divides, the whole chromosomes split in half, and then nucleotides that pair with the half-chain combine with the strand to make two complete copies. (hackaday.com)

Mendel hypothesized that each organism has a pair of factors that determine each trait. (pbs.org)

Homologous chromosomes - matching chromosomes in a diploid cell. (csbsju.edu)
To summarize, in diploid organisms, chromosomes come in pairs. (csbsju.edu)
Each diploid cell with 46 chromosomes contains 6 billion bps of DNA. (frontiersin.org)
The term diploid describes a state in which a cell has two sets of homologous chromosomes, or two chromosomes that are the same. (creationwiki.org)
This reduction is accomplished through a process called meiosis , where one chromosome in a diploid pair is sent to each daughter gamete. (creationwiki.org)

One specific pair of chromosomes determines the sex or gender of the individual. (brighthub.com)

Chromosome 3 likely contains 1,000 to 1,100 genes that provide instructions for making proteins. (medlineplus.gov)
During mitosis and meiosis, the condensed chromosomes are assembled through interactions between nucleosomes and other regulatory proteins. (wikipedia.org)
Today we know that a chromosome contains a single molecule of DNA along with several kinds of proteins. (encyclopedia.com)
Chromosomes are packages of DNA, wound around proteins called histones. (creation.com)
This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases. (nih.gov)

This process results in 3 copies of chromosome 21, but one copy is attached to another chromosome, often chromosome 14. (verywell.com)
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)

In a translocation, part of one chromosome breaks off and becomes attached to another chromosome during meiosis-the process of cell division that takes place in the formation of eggs and sperm. (verywell.com)

Meiosis is the second type of nuclear division, which, as we said above, results in each daughter having half the number of chromosomes as the parent. (csbsju.edu)

12.20 Connection: Could GM organisms harm human health or the environment? (slideserve.com)

E. Meiosis reduces the chromosome in number in half. (csbsju.edu)
Homologous chromosomes pair during meiosis (not during mitosis). (csbsju.edu)

Humans are unique among primates with much shorter telomeres only 10 kilobases long. (answersingenesis.org)
2) Chimpanzees and other apes have telomeres about 23 kilobases long, whereas humans are completely unique among primates with much shorter telomeres only 10 kilobases long. (answers.com)
We introduce high-throughput and massive paired-end mapping (PEM), a large-scale genome-sequencing method to identify structural variants (SVs) ∼3 kilobases (kb) or larger that combines the rescue and capture of paired ends of 3-kb fragments, massive 454 sequencing, and a computational approach to map DNA reads onto a reference genome. (sciencemag.org)

5 In other words, the genes and markers on these chromosomes are not in the same order in the human and chimpanzee. (answersingenesis.org)
The Y chromosome in particular is of a different size and has many markers that do not line up between the human and chimpanzee. (answersingenesis.org)
Scientists have prepared a human-chimpanzee comparative clone map of chromosome 21 in particular. (answersingenesis.org)
Human and Chimpanzee Karyotypes packet (four figures: 2a-2d) on 4 pages. (indiana.edu)
Divergence between samples of chimpanzee and human DNA sequences is 5% counting indels. (answers.com)
2002. 'Construction and analysis of a Human-Chimpanzee Comparative Clone Map. (answers.com)

Evolutionary scientists believe that one of the human chromosomes has been formed through the fusion of two small chromosomes in the chimp instead of an intrinsic difference resulting from a separate creation. (answersingenesis.org)
Regarding the creation of humans, we propose that a faithful reading of Genesis one and two allows for an evolutionary origin for Adam's body, but evolution cannot explain the origin of spiritual life. (xenos.org)
We will demonstrate that scripture is compatible with an evolutionary view of the origin of life, including, with exceptions, the origin of human life. (xenos.org)
Possible evolutionary relationships are explored, as are the chromosomes and relationships of other apes. (indiana.edu)
3. Predictions of similarities of chromosomes, based on the assumption of evolutionary relationships, can be tested. (indiana.edu)
3. demonstrate their understanding that degrees of similarities in chromosomes correspond to degrees of evolutionary relationship. (indiana.edu)
To help understand the human evolutionary history of this region, we performed Y chromosome analyses on ancient human remains from archaeological sites ranging in age from 6500 to 2700 BP. (daum.net)
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)
This will be a major boon to evolutionary studies of human populations and to the many groups doing mechanistic work on human centromeres and kinetochores," says Stanford University researcher Aaron Straight, whose work focuses on cell division and chromosome segregation. (nature.com)
Evolutionary scientists claim that the human male chromosome-the Y chromosome-is shrinking. (icr.org)
This Y chromosome claim is an example of evolutionary assumptions redirecting investigation away from potentially productive research to speculative unproductive research. (icr.org)

We examined 14 pheochromocytomas (four from VHL patients, nine from sporadic patients, and one from a patient with familial pheochromocytoma) for loss of heterozygosity on chromosome arm 3p by using the polymerase chain reaction and restriction fragment length polymorphisms at eight loci. (elsevier.com)

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)

Unlike non- ionizing radiation (such as microwaves and ultraviolet radiation), which has insufficient energy to eject molecular electrons, ionizing radiation deposits sufficient energy to remove electrons from atomic orbits and create molecular ion pairs along particle tracks. (cdc.gov)
1. Chromosome banding patterns provide independent confirmation of relationship in hominids, in addition to anatomical, physiological, genetic, and molecular evidence. (indiana.edu)
This finding opens up a whole new area of study for looking at risks of cardiovascular disease," said senior study investigator Jeffrey M. Vance, M.D., Ph.D., director of the Center for Molecular Genetics and Genomic Medicine, Miami Institute for Human Genomics at the Miller School of Medicine. (science20.com)
Bushong (2) states that observable human radiation injury results from molecular change. (thefreelibrary.com)

However, deletions in AS occur on the maternally inherited chromosome 15, and deletions in PWS occur on the paternally derived chromosome 15. (nih.gov)

For the first time, scientists are mapping the coast redwood's genome, a genetic code 12 times larger than that of a human being. (washingtonpost.com)
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)
Although such genetic happenings are common on the Y chromosome, scientists have also identified regions which contain palindromic sequences which seem to help the Y chromosome retain its active functions. (brighthub.com)
Scientists believe that every human has about 25,000 genes per cell. (kidshealth.org)
Scientists found that certain growth and fertility problems could be corrected with this therapy, which led them to think that the same could be true for humans. (kidshealth.org)
His plan is to design and build long chains of human DNA, not solely by cutting and pasting small fixes-a now-routine practice, thanks to recent technologies like Crispr that let scientists edit DNA cheaply and easily-but by rewriting critical stretches of chromosomes that can then be stitched together with a naturally occurring genome. (wired.com)
In 1995, Myriad's scientists also identified and isolated BRCA 2, which resides on chromosome number 13. (nybooks.com)

For every chromosome in one of dad's sperm, there is a matching (homologous) chromosome in mom's egg. (csbsju.edu)
A genetic locus is the place on homologous chromosome pairs where genes are located. (aappublications.org)

They protect the ends of the chromosomes and every time a cell divides, the telomeres are shortened, losing between 25-200 bases. (abpischools.org.uk)
When a cell divides, one of each pair of chromosomes goes to each daughter cell. (verywell.com)

A small amount of missing genetic material on the p arm of chromosome 16 causes a condition called 16p12.2 microdeletion, which is associated with physical and developmental abnormalities in some affected individuals. (medlineplus.gov)
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)
As such, chromatin is the fundament for further packaging of the genetic material into chromosomes whose structure is mostly known for its characteristic cross shape. (mpg.de)

The similarity between humans and mice in many salient aspects of mammalian anatomy and physiology, coupled with the close genome homology between these two species, makes mice an excellent model for illustrating the function of human genes. (genetics.org)
The main areas of research include human genetics and mammalian embryonic development. (yu.edu)

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)

It is the same region of chromosome 3 that is abnormally copied (duplicated) in people with 3q29 microduplication syndrome (described below). (medlineplus.gov)
It is the same region of chromosome 3 that is deleted in people with 3q29 microdeletion syndrome (described above). (medlineplus.gov)
Fluorescence in situ hybridization with PAC DNA clones localized ATP1B3 to the q22 → 23 region of Chromosome (Chr) 3, and the β3 pseudogene to the p13 → 15 region of Chr 2. (elsevier.com)

The problem lies in the unusual nature of the human male sex chromosomes, the only two on the long string of human DNA that are unequally matched, with an X and Y pairing up to create a male. (amherst.edu)
We want to start with a human Y," he says, referring to the male sex chromosome, which he explains has the fewest genes of a person's 23 chromo-somes and is thus easier to build. (wired.com)

Usually, we humans have 23 pairs of chromosomes - the threadlike structures containing our DNA and genes. (mydr.com.au)
The information molecule, the DNA, is tightly packed into structures called chromosomes which are responsible for carrying over the information from the parent to the offspring. (brighthub.com)

4 These include over 100 genetic traits (autosomal dominant, autosomal recessive, and sex linked) and deletions or translocations of virtually all the chromosomes 1 (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/OMIM/ ). (bmj.com)
Deletions are when a part of a chromosome is either missing or deleted. (bartleby.com)

The charity has set up a laboratory in Paris dedicated to mapping the human genome. (newscientist.com)
Geneticists in the US attribute Cohen's success to the fact that he is not chasing specific genes but concentrating on mapping entire chromosomes. (newscientist.com)
Development of paired-end mapping for detecting SVs. (sciencemag.org)
In order to identify SVs more accurately, we developed paired-end mapping (PEM), which involves the preparation and isolation of paired ends of 3-kb fragments ( 12 ), and their massive sequencing with 454 technology ( Fig. 1 ) ( 13 ). (sciencemag.org)
By leveraging the increased sensitivity afforded by long single DNA molecule optical mapping on nanochannel arrays, coupled with 10XGenomics whole-genome sequencing, and CRISPR-Cas9 labeling, this thesis reveals the previously unmapped structure and variation of the chromosome 22 LCRs and surrounding regions. (drexel.edu)

The Duchenne muscular dystrophy ( Dmd ) locus lies in a region of the X chromosome that experiences a high rate of recombination and is thus expected to be relatively unaffected by the effects of selection on nearby genes. (genetics.org)
To provide a picture of nucleotide variability at a high-recombination locus in humans, we sequenced 5.4 kb from two introns of Dmd in a worldwide sample of 41 alleles from Africa, Asia, Europe, and the Americas. (genetics.org)
Mutation, migration, drift, recombination, selection at individual loci, the effects of selection at linked sites, and demographic history undoubtedly all play a role in shaping patterns of human genetic variation, although the relative importance of these different factors is not yet clear. (genetics.org)

Here, we report on the use of a bacterial artificial chromosome (BAC) to begin understanding the in vivo regulation of smooth muscle calponin (SM-Calp). (physiology.org)

Dot blot analysis of β3 subunit transcripts revealed expression within virtually all human tissues, while in situ hybridization showed expression of β3 mRNA in both neurons and glia of rat brain. (elsevier.com)
One of the ways speciation succeeds is blocking hybridization: humans have 46 chromosomes (23 pairs) the other great apes have 48 (24 pairs). (physicsforums.com)

In comparison, the first complete sequencing of a human genome, done by the Human Genome Project , cost about $3 billion when it was finally completed in 2003. (wired.com)
Human Genome Project Information Archive 1990-2003. (wikipedia.org)
The din has faded from the 2001 celebration marking the end of the Human Genome Project. (nature.com)

1994 Nov;8(3):221-8. (nih.gov)
while DiGeorge syndrome has been shown to be associated with microdeletions of chromosome 22q11 ( D riscoll 1994 ). (genetics.org)
the simplified constitutive models of structural steel provided in EN-1993-1-2 and EN-1994-1-2. (bartleby.com)
died 3 Apr 1994 at age 67 . (todayinsci.com)
Supported by venture capital and both funds and collaborators from the National Institutes of Health, Skolnick and his colleagues won the race in 1994, finding BRCA 1 and isolating it from the rest of the DNA and the tangle of protein that form chromosome 17. (nybooks.com)

In addition, the constant region of the human IgH locus is known to contain sequences difficult to be cloned ( 6 ). (pnas.org)
In the case of a human chromosome 2 (hChr.2)-derived hCF [hCF(2-W23), ≈5-20 Mb] ( 8 ) containing the Igκ locus, it was found to be transmitted to the offspring through the germ line, demonstrating the establishment of a trans-chromosomic (Tc) mouse [Tc(W23)] expressing the human Ig κ light chain (hκ) ( 7 ). (pnas.org)
METHODS Based on a whole genome linkage analysis, in a six generation consanguineous family with autosomal recessive inheritance, the first locus for isolated microphthalmia was mapped to chromosome 14q32. (bmj.com)

Humans have 23 pairs of chromosomes while chimpanzees have 24. (answersingenesis.org)
The Britten 9 study looked at 779 kilobase pairs to carefully examine differences between chimpanzees and humans. (answersingenesis.org)
The banding patterns seen on stained chromosomes from humans and chimpanzees are compared in detail, showing striking similarities. (indiana.edu)
Are humans and chimpanzees 99 percent genetically identical? (answers.com)
Although it has commonly been stated in the past that humans and chimpanzees have 98.5% DNA similarity, this figure has recently been found to be incorrect. (answers.com)
Newer research has suggested that there is approximately 96% genetic similarity between Humans and chimpanzees overall. (answers.com)
Specifically, 18 of the chromosomes of humans are nearly identical to those of chimpanzees, the rest are very different (eg: chromosomes 4, 9, 12, 21, and y). (answers.com)
3) The Y chromosome in chimpanzees is smaller than that of humans and only 60% of the genes are similar to those of the y chromosome of humans. (answers.com)
The coalitional killing of adults in neighboring groups occurs regularly in humans, wolves and chimpanzees. (moonofalabama.org)
Based on fossil evidence and comparative anatomy, Charles Darwin proposed that humans and great apes-which include chimpanzees, gorillas, and orangutans-share a common ancestor that lived several million years ago. (moonofalabama.org)

Using nanopore sequencing technology from multiple companies, researchers at the University of California Santa Cruz Genomics Institute (UCSC Genomics Institute) have produced what they say is the first telomere-to-telomere or end-to-end map of the human X chromosome . (darkdaily.com)
The UCSC researchers published their paper, titled, " Telomere-to-Telomere Assembly of a Complete Human X Chromosome ," in the multidisciplinary scientific journal Nature . (darkdaily.com)
By filling in gaps in the human genome, the UCSC researchers opened up new possibilities to finding clues and answers regarding important questions about our genes and how they may contribute to illnesses. (darkdaily.com)

In nondisjunction, for around 90% of children, the extra chromosome comes from the mother (the egg). (verywell.com)
In Jul 1958, while examining the chromosomes of a so-called "Mongol" child, Lejeune discovered the existence of an extra chromosome on the 21st pair. (todayinsci.com)

This chromosome segment is normally surrounded by short, repeated sequences of DNA that make it prone to rearrangement during cell division. (medlineplus.gov)
At the end of each chromosome is a string of repeating DNA sequences called a telomere. (answersingenesis.org)
Consequently, breakpoint junction sequences of a limited number of SVs and/or CNVs have been reported ( 2 , 3 , 11 ). (sciencemag.org)

Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)

Without histones, the unwound DNA in chromosomes would be very long (a length to width ratio of more than 10 million to 1 in human DNA). (wikipedia.org)
In animals, genes encoding canonical histones are typically clustered along the chromosome, lack introns and use a stem loop structure at the 3' end instead of a polyA tail. (wikipedia.org)
The protruding N-terminal tails of histones undergo post-translational chemical modifications including but not limited to acetylation (ac), methylation (me), phosphorylation (P), ubiquitination (ubi), and SUMOylation (SUMO) ( 3 , 4 ). (frontiersin.org)

a. somatic cell and gamete b. autosome and sex chromosome 4. (coursehero.com)

Pericentromeric regions are apical, chromosome arms are aligned and telomeres are basal. (mpg.de)

2017;13(3):e1006687. (yu.edu)

1995 Jul;13(3):151-156. (elsevier.com)

At one point in the cell's life, its chromosomes become untangled and open up to expose their genes. (encyclopedia.com)

1998. 'Evolution of chromosome Y in primates. (answers.com)

This number and arrangement of chromosomes determine a person's development. (mydr.com.au)

This idea is based on evaluations of modern X and Y sex chromosomes that evolutionists think resulted from an original common ancestral pair of identical chromosomes. (icr.org)

Most of the genes in the two chromosomes of each pair are identical or almost identical with each other. (encyclopedia.com)
While 18 pairs of chromosomes are 'virtually identical', chromosomes 4, 9 and 12 show evidence of being 'remodeled. (answersingenesis.org)
Although 96% of the DNA is similar overall, there are some very significant differences in some chromosomes, where other chromosomes are nearly identical. (answers.com)
From this comparison one could determine which genes were lost, which were gained, or which moved to other locations, assuming the X and Y chromosomes were once identical. (icr.org)
But what if the two chromosomes were not originally identical and no Y chromosome "loss" has occurred? (icr.org)

Although the introduction of entire human Ig loci into mice to reconstitute full diverse human antibody repertoires has been a next major challenge, this has never been achieved because the cloning of over megabase-sized DNA fragments encompassing whole human Ig loci remains difficult even with the use of yeast artificial chromosomes ( 1 , 5 ). (pnas.org)
To circumvent such a DNA cloning step, we have developed a procedure utilizing a human chromosome fragment (hCF) as a vector for transgenesis. (pnas.org)
The megaYAC's forebear, the yeast artificial chromosome, was invented in the late 1980s for cloning stretches of DNA that are too long to be manipulated in bacteria. (newscientist.com)

Each chromosome is a tightly wound thread of DNA. (pbs.org)
It coils up tightly inside chromosomes. (abpischools.org.uk)

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)

Partial list of the genes located on p-arm (short arm) of human chromosome 3: ALAS1: aminolevulinate, delta-, synthase 1 APEH: encoding enzyme Acylamino-acid-releasing enzyme ARPP-21: Cyclic AMP-regulated phosphoprotein, 21 kDa AZI2: encoding protein 5-azacytidine-induced protein 2 BRK1: SCAR/WAVE actin nucleating complex subunit BRPF1: bromodomain and PHD finger containing 1 BTD: biotinidase C3orf14-Chromosome 3 open reading frame 14: predicted DNA binding protein. (wikipedia.org)
According to the nomenclature describing histone modifications, first the histone is named, followed by the modified amino acid residue along with its position in the protein and lastly the type of chemical modification is included (for instance, H3K9me3 designates 3 methylation groups on lysine 9 in the histone H3 tail) ( 5 ). (frontiersin.org)

Another group also employed the microcell-mediated chromosome transfer to produce chimeric mice containing a hChr.21 or its fragment in a recent report ( 9 ). (pnas.org)

Anatomy66

Organisms8

Diseases26

Chemicals and Drugs29

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

Psychiatry and Psychology1

Phenomena and Processes174

Disciplines and Occupations2

Technology, Industry, Agriculture2

Information Science4

Health Care1

A genome search identifies major quantitative trait loci on human chromosomes 3 and 4 that influence cholesterol concentrations in small LDL particles. (1/1292)

SAG, a novel zinc RING finger protein that protects cells from apoptosis induced by redox agents. (2/1292)

Role of amplified genes in the production of autoantibodies. (3/1292)

Loss of heterozygosity at 3p14.2 in clear cell renal cell carcinoma is an early event and is highly localized to the FHIT gene locus. (4/1292)

Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer. (5/1292)

Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q. (6/1292)

Identification of the activating and conjugating enzymes of the NEDD8 conjugation pathway. (7/1292)

Correlation of abnormal RB, p16ink4a, and p53 expression with 3p loss of heterozygosity, other genetic abnormalities, and clinical features in 103 primary non-small cell lung cancers. (8/1292)

Chromosomes

Chromosome Mapping

Chromosome Banding

X Chromosome

Chromosome Aberrations

Sex Chromosomes

Chromosomes, Human, Pair 1

Chromosomes, Human

Chromosomes, Bacterial

Chromosome Segregation

Chromosomes, Human, Pair 7

Chromosomes, Human, Pair 11

Chromosomes, Human, Pair 17

Chromosomes, Human, Pair 6

Chromosome Deletion

Chromosomes, Human, Pair 9

Chromosomes, Human, Pair 21

Chromosomes, Plant

Chromosomes, Fungal

Chromosomes, Human, 6-12 and X

Chromosomes, Human, Pair 2

Chromosomes, Human, Pair 16

Chromosomes, Human, Pair 22

Chromosome Pairing

Chromosomes, Human, Pair 13

Chromosomes, Mammalian

Chromosomes, Human, Pair 4

Chromosomes, Human, Pair 10

Chromosomes, Human, Pair 19

Chromosomes, Human, Pair 8

Chromosomes, Human, Y

Chromosome Disorders

Chromosomes, Artificial, Bacterial

Chromosomes, Human, Pair 12

Chromosomes, Human, Pair 5

Chromosomes, Human, X

Chromosome Painting

Chromosomes, Human, 1-3

Chromosomes, Human, Pair 15

Karyotyping

Chromosomes, Human, Pair 14

Chromosomes, Human, Pair 18

Chromosomes, Human, Pair 20

In Situ Hybridization, Fluorescence

Chromosomes, Human, 16-18

Chromosomes, Artificial, Yeast

Genetic Linkage

Chromosomes, Human, 13-15

Chromosome Breakage

Chromosomes, Human, 21-22 and Y

Molecular Sequence Data

Base Sequence

Ring Chromosomes

Genetic Markers

Chromosome Inversion

Chromosome Positioning

Chromosomes, Human, 4-5

X Chromosome Inactivation

Centromere

Meiosis

Chromosomes, Insect

Translocation, Genetic

Hybrid Cells

Chromosome Structures

Chromosomes, Human, 19-20

Aneuploidy

Metaphase

Mitosis

Recombination, Genetic

Mutation

Microsatellite Repeats

Lod Score

Pedigree

Crosses, Genetic

Cloning, Molecular

Phenotype

DNA

Alleles

Amino Acid Sequence

Nucleic Acid Hybridization