Chromosomes human 6 12 and x. 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.

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.

Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.

Abnormal number or structure of 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.

Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.

A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP B 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.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)

DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.

The 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.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.

One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).

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 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.

A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.

Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.

The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

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.

Aberrant chromosomes with no ends, i.e., circular.

An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.

A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.

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.

Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

A 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 sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

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.

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.

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 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.

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.

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.

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.

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 outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

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 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 possession of a third chromosome of any one type in an otherwise diploid cell.

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.

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)

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).

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.

The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.

A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.

Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.

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.

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.

A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.

A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.

Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.

Genetic loci associated with a QUANTITATIVE TRAIT.

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.

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.

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.

In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.

A species of fruit fly much used in genetics because of the large size of its chromosomes.

Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).

The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.

The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.

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.

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.

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)

An individual having different alleles at one or more loci regarding a specific character.

The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.

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)

Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.

The process by which a DNA molecule is duplicated.

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.

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 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 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).

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.

Genotypic differences observed among individuals in a population.

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.

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 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 regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.

A 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.

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.

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.

Genes that are located on the X CHROMOSOME.

The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)

Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.

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.

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.)

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.

The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.

The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.

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.

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).

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.

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.

A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.

Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.

Deoxyribonucleic acid that makes up the genetic material of bacteria.

Established cell cultures that have the potential to propagate indefinitely.

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.

Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.

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.

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.

Genes that influence the PHENOTYPE only in the homozygous state.

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).

PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.

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.

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)

Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.

The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.

Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.

An individual in which both alleles at a given locus are identical.

The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.

The degree of replication of the chromosome set in the karyotype.

The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.

The relationships of groups of organisms as reflected by their genetic makeup.

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.

The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.

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.

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)

The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.

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)

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.

The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.

Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.

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)

A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.

A 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.

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.

The functional hereditary units of BACTERIA.

The genetic complement of a plant (PLANTS) as represented in its DNA.

A characteristic symptom complex.

The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.

DNA present in neoplastic tissue.

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.

The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.

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.

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.

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.

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.

Deoxyribonucleic acid that makes up the genetic material of fungi.

Genes that are located on the Y CHROMOSOME.

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.

Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.

The mechanisms by which the SEX of an individual's GONADS are fixed.

Deoxyribonucleic acid that makes up the genetic material of plants.

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.

Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.

A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.

The functional hereditary units of INSECTS.

A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)

A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)

Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

The prophase of the first division of MEIOSIS (in which homologous CHROMOSOME SEGREGATION occurs). It is divided into five stages: leptonema, zygonema, PACHYNEMA, diplonema, and diakinesis.

A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.

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.

A method for ordering genetic loci along CHROMOSOMES. The method involves fusing irradiated donor cells with host cells from another species. Following cell fusion, fragments of DNA from the irradiated cells become integrated into the chromosomes of the host cells. Molecular probing of DNA obtained from the fused cells is used to determine if two or more genetic loci are located within the same fragment of donor cell DNA.

The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)

Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.

Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q. (1/415)

A severely mentally subnormal child with many physical stigmata was shown to have the karyotype 46,XY,-2,+der(2),t(2;10)(q31;q24)pat. Full evaluation of this patient's karyotype depended on the family studies. It was shown that a balanced translocation t(2,10) was present in 4 normal males in 3 generations. (+info)

Interacting populations affecting proliferation of leukemic cells in culture. (2/415)

Peripheral blood cells from three patients with acute leukemic have been studied using a suspension culture method previously described.1 Cytogenetic studies in two of the patients permitted the identification of the proliferating cells in the cultures as being derived from a leukemic population. Cell separation studies using velocity sedimentation supported the concept that growth of the leukemic cells in culture is dependent on an interaction between two populations of leukemic cells. (+info)

Nonrandom chromosomal abnormalities in hematologic disorders of man. (3/415)

A nonrandom pattern of chromosomal abnormalities occurs in bone marrow cells obtained from patients with hematologic disorders who have an abnormal karyotype involving a C group chromosome. An additional number 8 chromosome is the most common abnormality, found in more than one-half of the patients studies. An additional number 9 chromosome and the loss of all or part of a number 7 are abnormalities that occur more often than might be expected by chance. It is proposed that specific human chromosomal abnormalities may be related to different specific etiologic agents. (+info)

De novo appearance of the ph-1 chromosome in a previously monosomic bone marrow (45,XX,-6): conversion of a myeloproliferative disorder to acute myelogenous leukemia. (4/415)

Bone marrow examination of a patient with a myeloproliferative disorder revealed monosomy for chromosome No. 6 (45,XX,-6). Two months later, during blastic crisis, reinvestigation of the bone marrow showed the presence of the Ph-1 chromosome in the previously aneuploid cell line (45,XX,-6,-22,+Ph-1). This case differs from those previously published in that the Ph-1 chromosome appeared de novo during the development of frank acute myelogenous leukemia. (+info)

Removal of abnormal clone of leukaemic cells by splenectomy. (5/415)

A patient with chronic myelocytic leukaemia positive for the Philadelphia (Ph-1) chromosome underwent splenectomy in the "terminal phase" of his disease. Chromosomal analysis of a marrow aspirate obtained during the operation showed nothing abnormal. Material from the spleen, however, showed the absence of a C chromosome and the presence of a "marker" chromosome in all metaphases examined. The patient did well for almost three years after splenectomy, and serial cytogenetic studies of marrow specimens showed the Ph-1 chromosome to be the only significant abnormality. Six months before death from recurrent blastic transformation aneuploidy was found in a marrow specimen. Subsequently additional abnormalities, including cells with two Ph-1 chromosomes, were detected. The karyotypic abnormalities found in the splenic specimen, however, never recurred. (+info)

Genetics of somatic mammalian cells: genetic, immunologic, and biochemical analysis with Chinese hamster cell hybrids containing selected human chromosomes. (6/415)

Through hybridization of specific Chinese hamster cell auxotrophs with human cells and selection in media lacking the nutritional supplements required by the former cells, a series of stable hybrid clones can be prepared. These hybrids have genomes consisting of a common part--the complete or almost complete set of Chinese hamster chromosomes, plus a variable part--one or a few human chromosomes. The identity of the human chromosomes can be varied by utilizing different Chinese hamster auxotrophs and the appropriate selective media. The human chromosomes present can be determined by a combination of cytogenetic analysis with chromosome banding and testing for specific human marker genes. Hybrids containing single human chromosomes 11 and 12 and the combination of both 11 and 12 are described. The system appears to lend itself to various studies such as identification of human cell surface antigens, determination of their chromosomal loci, measurement of their distribution among cells of normal human tissues, study of interrelations among syntenic and asyntenic genes, and mutational analysis of the human genome. (+info)

Discordant patterns of chromosome changes and myeloblast proliferation during the terminal phase of chronic myeloid leukemia. (7/415)

A patient with Ph1 positive chronic myeloid leukemia (CML) developed blastic transformation which by morphologic criteria appeared to be localized to the lymphatic system. Chromosome analysis at this time, however, revealed new chromosomal abnormalities in addition to the existing Ph1 in all tissues studied (lymph node, blood, and bone marrow) consisting primarily of extra chromosome numbers 19 and 9 and a second Ph1. Therapy resulted in clinical remission with significant decrease in the aneuploid cell lines. However, these reappeared with recurrence of the blast crisis. Colony formation in semisolid culture of blood and marrow cells at the time of initial blast crisis yielded growth patterns characteristic of CML. On recurrence of the blast crisis after therapy, growth patterns were characteristic of CML in blast crisis or acute myeloblastic leukemia even though blood and marrow still showed relatively low levels of myeloblasts and promyelocytes. Possible explanations are discussed for the disparity in distribution between morphologic and chromosomal abnormalities in this patient. (+info)

Trisomy 8 in the bone marrow associated with high red cell glutathione reductase activity. (8/415)

In a series of 841 patients with hematologic disorders, 10 individuals were found to have an extra C group chromosome in their bone marrow cells. In two the extra chromosome was not identified, but in the remaining eight it was No. 8. Four of these ten patients had leukemia, and the others had cytopenias or other probably preleukemic conditions. The mean value for glutathione reductase activity in the red cells of four patients with trisomy 8 was significantly higher (2980 +/- 940 mumoles/min/liter of erythrocytes) than in normal controls (1930 +/- 360) or in any of five different control groups of patients with hematologic disorders. The extent of enzyme activation as a result of preincubation with exogenous flavin adenine dinucleotide was similar in the erythrocytes of all groups. The reasons for the high values of red cell glutathione reductase activity in patients with trisomy 8 are discussed in the light of the proposed assignment of the gene for that enzyme to chromosome 8. (+info)

A human artificial chromosome (HAC) is a microchromosome that can act as a new chromosome in a population of human cells. That ... 21HAC is based on a stripped copy of human chromosome 21, producing a chromosome 5 Mb in length. Truncation of chromosome 21 ... Yeast artificial chromosomes and bacterial artificial chromosomes were created before human artificial chromosomes, which were ... "A new chromosome 14-based human artificial chromosome (HAC) vector system for efficient transgene expression in human primary ...

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

Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 6: entries, gene ... The human leukocyte antigen lies on chromosome 6, with the exception of the gene for β2-microglobulin (which is located on ... The following is a partial list of genes on human chromosome 6. For complete list, see the link in the infobox on the right. ... The following are some of the genes located on p-arm (short arm) of human chromosome 6: ADTRP: encoding protein Androgen- ...

https://en.wikipedia.org/wiki/Chromosome_6

Gilbert F, Kauff N (2000). "Disease genes and chromosomes: disease maps of the human genome.Chromosome 12". Genet Test. 4 (3): ... Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 12: entries, gene ... The following is a partial list of genes on human chromosome 12. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 12. Because researchers use different approaches to ...

https://en.wikipedia.org/wiki/Chromosome_12

Y chromosome. sSMC are, by definition, smaller in size than one of the smaller human chromosomes, chromosome 20. They originate ... that contain extra copies of chromosome 12's q arm at bands 13 through 15. This stretch of chromosome 12 includes the MDM2 ... Human cells typically have 22 pairs of autosomal chromosomes and one pair of sex chromosomes. Each member of the paired ... the pair of sex chromosomes are identified as the X and Y chromosomes with women's cells bearing two X chromosomes and men's ...

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

Zinc finger Y-chromosomal protein is a protein that in humans is encoded by the ZFY gene of the Y chromosome. This gene encodes ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome Y, All stub articles, ... Müller G, Schempp W (April 1989). "Mapping the human ZFX locus to Xp21.3 by in situ hybridization". Human Genetics. 82 (1): 82- ... In mice, Zfy genes are necessary for meiotic sex chromosome inactivation (MSCI). In Zfy knockout spermatocytes, sex chromosomes ...

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

This technology has further aided the genetic and epigenetic study of chromosomes both in model organisms and in humans.[not ... Chromosome conformation capture-on-chip (4C) (also known as circular chromosome conformation capture) captures interactions ... In 2003, the Human Genome Project was finished. In 2006, Marieke Simonis invented 4C, Dostie, in the Dekker lab, invented 5C. ... Chromosome conformation capture techniques (often abbreviated to 3C technologies or 3C-based methods) are a set of molecular ...

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

... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 ... Wikimedia Commons has media related to Human chromosome 8. National Institutes of Health. "Chromosome 8". Genetics Home ... The following is a partial list of genes on human chromosome 8. For complete list, see the link in the infobox on the right. ... "Human chromosome 8: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16. "Search ...

https://en.wikipedia.org/wiki/Chromosome_8

Dicentric chromosome) will result in chromosome breakage during mitosis. In some unusual cases human neocentromeres have been ... Chromosome-breaking events can also generate acentric chromosomes or acentric fragments. A dicentric chromosome is an abnormal ... with a reduction of two acrocentric chromosomes in the great apes to one metacentric chromosome in humans (see aneuploidy and ... The human genome includes six acrocentric chromosomes. Five autosomal acrocentric chromosomes: 13, 14, 15, 21, 22; and the Y ...

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

... is a protein that in humans is encoded by chromosome 12 open reading frame 29. The gene is ubiquitously expressed in ... C12orf29 gene in human is located on the positive strand at 12q21.32 (p = short arm, q = long arm). It has 7 exons and 6 ... The human's C12orf29 protein was more closely related to the sheep's ortholog than to the mouse's ortholog. The invertebrates ... "C12orf29 chromosome 12 open reading frame 29 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-09-26 ...

https://en.wikipedia.org/wiki/C12orf29

2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724-31. Bibcode: ... 2005). "A Human Orthologue of Archaeal DNA Repair Protein Hef is Defective in Fanconi Anemia Complementation Group M". Nat. ... E3 ubiquitin-protein ligase FANCL is an enzyme that in humans is encoded by the FANCL gene. The clinical phenotype of ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...

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

Articles with short description, Short description is different from Wikidata, Genes on human chromosome). ... Madani N, Kabat D (Dec 1998). "An endogenous inhibitor of human immunodeficiency virus in human lymphocytes is overcome by the ... The human protein proteasome subunit beta type-3 is 23 kDa in size and composed of 205 amino acids. The calculated theoretical ... Proteasome subunit beta type-3, also known as 20S proteasome subunit beta-3, is a protein that in humans is encoded by the ...

https://en.wikipedia.org/wiki/PSMB3

Genes on human chromosome 12, Glycoproteins). ... 10 nM for human recombinant lacritin on human cells. Higher ... Zhou L, Zhao SZ, Koh SK, Chen L, Vaz C, Tanavde V, Li XR, Beuerman RW (July 2012). "In-depth analysis of the human tear ... Human dry eye tears also lack this activity. However, dry eye tears supplemented with lacritin are fully protective. Similarly ... Lacritin is a glycoprotein of the human tear film, and to a lesser extent of saliva, lung lavage and plasma. It is mainly ...

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

"Q5TDP6 (LGSN_HUMAN)". UniProtKB. (Genes on human chromosome 6, Proteins). ... Lengsin is a protein that in humans is encoded by the LGSN gene. Lengsin is a survivor of an ancient family of class I ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ... 14 (12): 1823-34. doi:10.1016/j.str.2006.10.008. PMC 1868402. PMID 17161372. " ...

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

The human gene is located on chromosome 12 (12q15), between the genes encoding IL-22 and IFNγ, and composed of five exons ... February 2009). "A human natural killer cell subset provides an innate source of IL-22 for mucosal immunity". Nature. 457 (7230 ... Interleukin-26 (IL-26) is a protein that in humans is encoded by the IL26 gene. IL-26 is the most recently identified member of ... Co-expression of IL-17, IL-22, and IL-26 de facto defines the phenotype of human Th17 cells. Furthermore, CD26+ CD4+ T cells ...

https://en.wikipedia.org/wiki/Interleukin_26

... in human blood reacting with anti-rhesus sera and with human isoantibodies". The Journal of Experimental Medicine. 74 (4): 309- ... Weak D may also occur as "C in trans", whereby a C gene is present on the opposite chromosome to a D gene (as in the ... This system was based on the theory that there was one gene at a single locus on each of the 2 copies of chromosome 1, each ... The Rh blood group system is a human blood group system. It contains proteins on the surface of red blood cells. After the ABO ...

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

Genes on human chromosome 1, Human proteins, Genes mutated in mice, All stub articles, Human chromosome 1 gene stubs). ... Chromosome 1 open reading frame 38 is a protein that in humans is encoded by the C1orf38 gene. The gene is also known as ICB-1 ... "Chromosome 1 open reading frame 38". Retrieved 2011-12-07. Springwald, A.; Lattrich, C.; Seitz, S.; Ortmann, O.; Treeck, O. ( ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...

https://en.wikipedia.org/wiki/C1orf38

July 2010). "Human Y-chromosome short tandem repeats: A tale of acculturation and migrations as mechanisms for the diffusion of ... Haplogroup J-M304, also known as J, is a human Y-chromosome DNA haplogroup. It is believed to have evolved in Western Asia. The ... Journals Y Chromosome Consortium "YCC" (2002). "A Nomenclature System for the Tree of Human Y-Chromosomal Binary Haplogroups". ... 2004). "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-48. doi:10.1007/s00439-003-1031-4. ...

https://en.wikipedia.org/wiki/Haplogroup_J_(Y-DNA)

Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. ... and found an increased rate of minor criminal convictions for property crimes among sixteen XXY and twelve XYY men may be ... In the wake of the establishment of the normal number of human chromosomes, 47,XYY was the last of the common sex chromosome ... This tall (that chromosome), intelligent (that chromosome again), functionally nonviolent (that chromosome still again) fellow ...

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

December 2006). "DNA methylation profiling of human chromosomes 6, 20 and 22". Nature Genetics. 38 (12): 1378-85. doi:10.1038/ ...

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

... is a protein which in humans is encoded by the BCL2L13 gene on chromosome 22. This gene encodes a mitochondrially-localized ... a search for candidate genes at or near the human chromosome 22 pericentromere". Genome Research. 11 (6): 1053-70. doi:10.1101/ ... "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID ... Human BCL2L13 genome location and BCL2L13 gene details page in the UCSC Genome Browser. Dunham I, Shimizu N, Roe BA, Chissoe S ...

https://en.wikipedia.org/wiki/BCL2L13

December 1998). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA ... December 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-495. Bibcode:1999Natur.402..489D. doi: ... v t e (Genes on human chromosome 22, All stub articles, Protein stubs). ... Microtubule-associated monoxygenase, calponin and LIM domain containing 3, also known as MICAL3, is a human gene. Along with ...

https://en.wikipedia.org/wiki/MICAL3

v t e (Genes on human chromosome 12, All stub articles, Human chromosome 12 gene stubs). ... ELKS/RAB6-interacting/CAST family member 1 is a protein that in humans is encoded by the ERC1 gene. The name ELKS is derived ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from ...

https://en.wikipedia.org/wiki/ERC1

Barbara J. Trask, "Human genetics and disease: Human cytogenetics: 46 chromosomes, 46 years and counting" Nature Reviews ... It is the sum of the totient function for the first twelve integers. 46 is the largest even integer that cannot be expressed as ... The number of human chromosomes. The approximate molar mass of ethanol (46.07 g mol−1) Messier object M46, a magnitude 6.5 open ... Rush discovers that the number 46 relates to the number of human chromosomes and begins sequencing different genetic codes to ...

https://en.wikipedia.org/wiki/46_(number)

v t e (Genes on human chromosome 22, All stub articles, Human chromosome 22 gene stubs). ... 1999). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from ... 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. ... MORC family CW-type zinc finger protein 2 is a protein that in humans is encoded by the MORC2 gene. GRCh38: Ensembl release 89 ...

https://en.wikipedia.org/wiki/MORC2

... and also increased sex chromosome disomy by 1.7-fold and chromosome 18 disomy by 2.2-fold. Humans are exposed to perfluorinated ... Exposure to fenvalerate raised sex chromosome disomy 1.9-fold and disomy of chromosome 18 by 2.6-fold (Xia et al., 2004). ... Shi Q, Ko E, Barclay L, Hoang T, Rademaker A, Martin R (2001). "Cigarette smoking and aneuploidy in human sperm". Mol. Reprod. ... An aneugen is a substance that causes a daughter cell to have an abnormal number of chromosomes or aneuploidy. A substance's ...

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

Modern humans first arrived in Great Britain during the Palaeolithic era, but until the invasion of the Romans (1st century BC ... A Y Chromosome Census of the British Isles; Cristian Capelli, Nicola Redhead, Julia K. Abernethy, Fiona Gratrix, James F. ... In these areas, about 60% of Y chromosomes are of Germanic origin. This indicates an exclusively male component. The extent of ... From Genetic analysis section, Sub-Roman Britain Modern genetic evidence, based on analysis of the Y chromosomes of men ...

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

These mutations involve chromosome translocations which fuse the ETV6 on chromosome 12's the short (i.e. "p") arm ("q" stands ... The human ETV6 gene is located at position "13.2" on the short (i.e. "p") arm of chromosome 12, i.e. its notated position is ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 12, Wikipedia articles ... "IGH immunoglobulin heavy locus (human )". Entrez Gene. "TTL tubulin tyrosine ligase (human)". Entrez Gene. "CHIC2 cysteine rich ...

https://en.wikipedia.org/wiki/ETV6

... arm of chromosome 17 with part of the MYH9 gene at band 13.2 on the short (or "p") arm of chromosome 22. Other genes that ... Human)] - Gene - NCBI". "MYH9 myosin heavy chain 9 [Homo sapiens (Human)] - Gene - NCBI". Zhang L, Li C, Su X (December 2020 ... Lessons learned from investigating samples by next generation sequencing". Genes, Chromosomes & Cancer. 58 (2): 88-99. doi: ... Human)] - Gene - NCBI". Guo R, Wang X, Chou MM, Asmann Y, Wenger DE, Al-Ibraheemi A, Molavi DW, Aboulafia A, Jin L, Fritchie K ...

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

Syria: End persecution of human rights defenders and human rights activists Archived 13 October 2007 at the Wayback Machine. " ... Nebel A, Filon D, Brinkmann B, Majumder PP, Faerman M, Oppenheim A (November 2001). "The Y Chromosome Pool of Jews as Part of ... "Essential Background: Overview of human rights issues in Syria". Human Rights Watch, 31 December 2004. Syria's Kurds Struggle ... Kurdish human rights activists are mistreated and persecuted. No political parties are allowed for any group, Kurdish or ...

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

Genes on human chromosome 7, All articles lacking reliable references, Articles lacking reliable references from April 2014, ... The Human Protein Atlas. Retrieved 28 February 2014. Thompson DA, Weigel RJ (October 1998). "hAG-2, the human homologue of the ... Galligan JJ, Petersen DR (July 2012). "The human protein disulfide isomerase gene family". Human Genomics. 6 (1): 6. doi: ... Human AGR2 genome location and AGR2 gene details page in the UCSC Genome Browser. Zhang JS, Gong A, Cheville JC, Smith DI, ...

https://en.wikipedia.org/wiki/AGR2

In humans, the gene that codes for this enzyme is located on the long arm of chromosome 3 (3q13). This bifunctional enzyme has ... Portal: Biology (Genes on human chromosome 3, EC 4.1.1, EC 2.4.2). ... "Localization of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization". Genomics ... gene to river buffalo chromosomes by FISH". Chromosome Research. 2 (3): 255-6. doi:10.1007/BF01553326. PMID 8069469. S2CID ...

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

v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 6, Wikipedia ... Aftab S, Semenec L, Chu JS, Chen N (2008). "Identification and characterization of novel human tissue-specific RFX ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ... "Rfx6 directs islet formation and insulin production in mice and humans". Nature. 463 (7282): 775-80. Bibcode:2010Natur.463.. ...

https://en.wikipedia.org/wiki/RFX6

Genes on human chromosome 1, All articles lacking reliable references, Articles lacking reliable references from June 2011, ... is an enzyme that in humans is encoded by the PTGS2 gene. In humans it is one of two cyclooxygenases. It is involved in the ... It has been found that human PTGS2 (COX-2) functions as a conformational heterodimer having a catalytic monomer (E-cat) and an ... Studies with human pharmacology and genetics, genetically manipulated rodents, and other animal models and randomized trials ...

https://en.wikipedia.org/wiki/Prostaglandin-endoperoxide_synthase_2

Seisenberger C, Winnacker EL, Scherthan H (Aug 1993). "Localisation of the human nuclear factor I/X (NFI/X) gene to chromosome ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 19, Wikipedia articles ... Nuclear factor 1 X-type is a protein that in humans is encoded by the NFIX gene. NFI-X3, a splice variant of NFIX, regulates ... NFIX+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ...

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

Portal: Biology (Articles with short description, Short description matches Wikidata, Genes on human chromosome 20, Webarchive ... "Characterization of human epidermal growth factor receptor and c-Src interactions in human breast tumor cells". Mol. Carcinog. ... Overexpression of Human Epidermal Growth Factor Receptor 2 (HER2), also known as erbB2, is correlated with a worse prognosis ... Lee J, Wang Z, Luoh SM, Wood WI, Scadden DT (January 1994). "Cloning of FRK, a novel human intracellular SRC-like tyrosine ...

https://en.wikipedia.org/wiki/Proto-oncogene_tyrosine-protein_kinase_Src

v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 1, Wikipedia articles ... Rhomboid-related protein 2 is a protein that in humans is encoded by the RHBDL2 gene. The protein encoded by this gene is a ... incorporating text from the United States National Library of Medicine, All stub articles, Human chromosome 1 gene stubs). ... Lei X, Li YM (December 2009). "The processing of human rhomboid intramembrane serine protease RHBDL2 is required for its ...

https://en.wikipedia.org/wiki/Rhomboid-related_protein_2

Stokes, A; and Duda K. Comparison of Fatty Acid Ligands in Human HNF4-α Activity and its Role in Diabetes [Abstract]. Ga. J. ... MODY 1 is due to a loss-of-function mutation in the HNF4A (MODY1) gene on chromosome 12. This gene codes for hepatocyte nuclear ... 279 (22): 23311-6. doi:10.1074/jbc.M400864200. PMID 14982928. Dhe-Paganon S, Duda K, Iwamoto M, Chi YI, Shoelson SE (2002). " ... 277 (41): 37973-6. doi:10.1074/jbc.C200420200. PMID 12193589. v t e (Articles with short description, Short description matches ...

https://en.wikipedia.org/wiki/MODY_1

2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. ... 2005). "The sequence and analysis of duplication-rich human chromosome 16". Nature. 432 (7020): 988-94. Bibcode:2004Natur.432.. ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 16). ... C-jun-amino-terminal kinase-interacting protein 3 is an enzyme that in humans is encoded by the MAPK8IP3 gene. The protein ...

https://en.wikipedia.org/wiki/MAPK8IP3

... is caused by mutations in both copies of the CENPF gene, located on the long arm of chromosome 1. CENPF codes ... Badano JL, Mitsuma N, Beales PL, Katsanis N (1 September 2006). "The ciliopathies: an emerging class of human genetic disorders ... Filges I, Stromme P (January 2020). "CUGC for Stromme syndrome and CENPF-related disorders". European Journal of Human Genetics ... April 2016). "Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF". Human Mutation. 37 (4): 359-63. doi:10.1002 ...

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

Genes on human chromosome 1, Apoptosis, EC 3.1, Nucleases, Human proteins). ... "CASP3 caspase 3 [Homo sapiens (human)] - Gene - NCBI". Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). " ... Caspase-activated DNase (CAD) or DNA fragmentation factor subunit beta is a protein that in humans is encoded by the DFFB gene ... Halenbeck R, MacDonald H, Roulston A, Chen TT, Conroy L, Williams LT (April 1998). "CPAN, a human nuclease regulated by the ...

https://en.wikipedia.org/wiki/Caspase-activated_DNase

v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 16, All stub articles, ... Nucleolar protein 3 is a protein that in humans is encoded by the NOL3 gene. NOL3 has been shown to interact with SFRS9 and ... is induced in human breast cancer and confers chemo- and radiation-resistance". Cell Death Differ. 12 (6): 682-6. doi:10.1038/ ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...

https://en.wikipedia.org/wiki/NOL3

Genes on human chromosome 6, Wikipedia articles incorporating text from the United States National Library of Medicine). ... "Cloning and expression of primate Daxx cDNAs and mapping of the human gene to chromosome 6p21.3 in the MHC region". DNA Cell ... DAXX+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) PDBe-KB provides an overview of all ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...

https://en.wikipedia.org/wiki/Death-associated_protein_6

The CMTM5 gene is located in band 11.2 on the long (i.e. "q") arm of chromosome 14. The CMTM5 isoforms are members of the CKLF- ... The forced over expression of CMTM5-v1 in Huh7 human hepatic cells also inhibited the ability of these cells to grow in a mouse ... Finally, various cancer human cell lines including those of the liver, breast, prostate, colon, stomach, nasopharynx, ... Furthermore, the forced overexpression of the CMTM5 gene inhibited the proliferation and migration of cultured human ...

https://en.wikipedia.org/wiki/CKLF-like_MARVEL_transmembrane_domain-containing_5

Articles with short description, Short description matches Wikidata, Genes on human chromosome 5). ... Human CLINT1 genome location and CLINT1 gene details page in the UCSC Genome Browser. Nagase T, Seki N, Ishikawa K, et al. ( ... Liou YJ, Lai IC, Wang YC, Bai YM, Lin CC, Lin CY, Chen TT, Chen JY (June 2006). "Genetic analysis of the human ENTH (Epsin 4) ... V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1". DNA ...

https://en.wikipedia.org/wiki/CLINT1

Odz1 to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-3. doi:10.1006/geno.1999.5798. PMID ... Odz1to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-103. doi:10.1006/geno.1999.5798. PMID ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 4). ... Mutation in the TENM3/ODZ3 gene in humans has been associated with the eye condition, microphthalmia. Teneurin protein was ...

https://en.wikipedia.org/wiki/TENM3

Genes on human chromosome 1, All stub articles, Human chromosome 1 gene stubs). ... Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4 is a protein that in humans is encoded by the GNG4 gene. GNG4 ... Ray K, Kunsch C, Bonner LM, Robishaw JD (Oct 1995). "Isolation of cDNA clones encoding eight different human G protein gamma ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...

https://en.wikipedia.org/wiki/GNG4

v t e v t e v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome, Wikipedia ... is a protein that in humans is encoded by the LILRA3 gene located within the leukocyte receptor complex on chromosome 19q13.4. ... LILRA3+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) Overview of all the structural ... Borges L, Hsu ML, Fanger N, Kubin M, Cosman D (December 1997). "A family of human lymphoid and myeloid Ig-like receptors, some ...

https://en.wikipedia.org/wiki/LILRA3

... on mouse chromosome 17 and KCNQ1OT1 on human chromosome 11p15.5, have been shown to be essential for the imprinting of genes in ... of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2". ... DIRAS3 is a paternally expressed and maternally imprinted gene located on chromosome 1 in humans. Reduced DIRAS3 expression is ... but do depend on which parent the chromosome originated from. This group of epigenetic changes that depend on the chromosome's ...

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

It is part of the saponin-like protein family, and its gene is found on the 2nd chromosome in humans. It is distinguished by ... GNLY gene is located on human chromosome 2 and has 5 exons, which code for a 15 kDa protein. The path to transcription has not ... Articles lacking in-text citations from June 2019, All articles lacking in-text citations, Genes on human chromosome 2). ... Donlon TA, Krensky AM, Clayberger C (1990). "Localization of the human T lymphocyte activation gene 519 (D2S69E) to chromosome ...

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

These species have become a considerable threat to human health, as they are often capable of evading human immune systems and ... I. DNA-content and chromosome sets in various species of Cyprinidae". Humangenetik. 7 (3): 240-244. doi:10.1007/BF00273173. ... Some single-celled organisms have much more DNA than humans, for reasons that remain unclear (see non-coding DNA and C-value ... "Nuclear DNA content and genome size of trout and human". Cytometry Part A. 51 (2): 127-128. doi:10.1002/cyto.a.10013. PMID ...

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

The human gene PSMD7 has 7 Exons and locates at chromosome band 16q22.3. The human protein 26S proteasome non-ATPase regulatory ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 16). ... Madani N, Kabat D (Dec 1998). "An endogenous inhibitor of human immunodeficiency virus in human lymphocytes is overcome by the ... Sheehy AM, Gaddis NC, Choi JD, Malim MH (Aug 2002). "Isolation of a human gene that inhibits HIV-1 infection and is suppressed ...

https://en.wikipedia.org/wiki/PSMD7

Spillover effects led to increased levels of human capital, with the effect being most prominent in regions with the highest ... Carvalho-Silva, DR; Santos, FR; Rocha, J; Pena, SD (January 2001). "The Phylogeography of Brazilian Y-Chromosome Lineages". ... Immigration has been a very important demographic factor in the composition, structure and history of human population in ... Officially, amnesty intends to cut down on illegal activity and human rights violations, particularly with Bolivians in São ...

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

... mapping to human chromosome 19 and mouse chromosome 7 and expression in quivering mice". Genomics. 1 (2): 107-12. doi:10.1016/ ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 19, Wikipedia articles ... needing clarification from February 2019, Lectins, SIGLEC, All stub articles, Human chromosome 19 gene stubs). ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...

https://en.wikipedia.org/wiki/Myelin-associated_glycoprotein

Genes on human chromosome 20, All stub articles, Human chromosome 20 gene stubs). ... "A high-resolution 6.0-megabase transcript map of the type 2 diabetes susceptibility region on human chromosome 20". Genomics. ... Tran Q, Coleman TP, Roesser JR (January 2003). "Human transformer 2beta and SRp55 interact with a calcitonin-specific splice ... Pind MT, Watson PH (May 2003). "SR protein expression and CD44 splicing pattern in human breast tumours". Breast Cancer ...

https://en.wikipedia.org/wiki/SFRS6

v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 6, Wikipedia ... Human gene HSPA1B is an intron-less gene which encodes for the heat shock protein HSP70-2, a member of the Hsp70 family of ... Han C, Chen T, Li N, Yang M, Wan T, Cao X (February 2007). "HDJC9, a novel human type C DnaJ/HSP40 member interacts with and ... HSPA1B+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text ...

https://en.wikipedia.org/wiki/HSPA1B

Articles with short description, Short description matches Wikidata, Genes on human chromosome 2, Wikipedia articles ... "Assembly and annotation of human chromosome 2q33 sequence containing the CD28, CTLA4, and ICOS gene cluster: analysis by ... Inducible T-cell costimulator is an immune checkpoint protein that in humans is encoded by the ICOS gene. CD278 or ICOS ( ... ICOS+protein at the US National Library of Medicine Medical Subject Headings (MeSH) Human ICOS genome location and ICOS gene ...

https://en.wikipedia.org/wiki/CD278

v t e (Genes on human chromosome 11, All stub articles, Human chromosome 11 gene stubs). ... 2005). "Human urotensin II is a novel activator of NADPH oxidase in human pulmonary artery smooth muscle cells". Arterioscler. ... Jana A, Pahan K (2005). "Human immunodeficiency virus type 1 gp120 induces apoptosis in human primary neurons through redox- ... NADPH oxidase 4 is an enzyme that in humans is encoded by the NOX4 gene, and is a member of the NOX family of NADPH oxidases. ...

https://en.wikipedia.org/wiki/NOX4

... to show that the interferon action gene and interferon gene reside in different human chromosomes. The purification of human ... Meager A, Graves H, Burke DC, Swallow DM (August 1979). "Involvement of a gene on chromosome 9 in human fibroblast interferon ... The superinduced human beta interferon messenger RNA was prepared by Tan's lab for Cetus corp. to clone the human beta ... Tan YH (March 1976). "Chromosome 21 and the cell growth inhibitory effect of human interferon preparations". Nature. 260 (5547 ...

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

Genes on human chromosome 5, All stub articles, Human chromosome 5 gene stubs). ... The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1". DNA Res ... Schilders G, van Dijk E, Pruijn GJ (2007). "C1D and hMtr4p associate with the human exosome subunit PM/Scl-100 and are involved ... Superkiller viralicidic activity 2-like 2 is a protein that in humans is encoded by the SKIV2L2 gene. GRCh38: Ensembl release ...

https://en.wikipedia.org/wiki/SKIV2L2

... is located on human chromosome 1p22 and has been implicated to act as a tumor suppressor in several cancer types ... miR-137 is located on chromosome 1p22 within the non-protein-coding RNA gene AK094607. It is transcribed as a non-coding ... miR-137 is also found to be constitutively expressed in normal colonic epithelium in humans. miR-137 is embedded within a CpG ... Several target genes of miR-137 have been documented and shown to play important roles in various human cancers, cell cycle ...

https://en.wikipedia.org/wiki/MiR-137

Genes Chromosomes Cancer, 2006 Aug. PMID 16646086 * A double RING-H2 domain in RNF32, a gene expressed during sperm formation. ... Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to ... RNF32 ring finger protein 32 [ Homo sapiens (human) ] Gene ID: 140545, updated on 12-Aug-2022 ... Orthologs from Annotation Pipeline: 454 organisms have orthologs with human gene RNF32 ...

https://www.ncbi.nlm.nih.gov/gene/140545

Chromosome 12 spans almost 134 million DNA building blocks (base pairs) and represents between 4 and 4.5 percent of the total ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 12, one copy inherited from ... Gilbert F, Kauff N. Disease genes and chromosomes: disease maps of the human genome.Chromosome 12. Genet Test. 2000;4(3):319-33 ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...

https://medlineplus.gov/genetics/chromosome/12/

... human) Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome ... Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 15". Genet Test 3 (3): 309-22. ... It uses material from the Wikipedia article "Chromosome_15_(human)". A list of authors is available in Wikipedia. ...

https://www.bionity.com/en/encyclopedia/Chromosome_15_%28human%29.html

Genomic basis of the giga-chromosomes and giga-genome of tree peony Paeonia ostii Tree peony (Paeonia ostii) has the largest ... Recent advances in genome editing technologies have redefined our ability to probe and precisely edit the human genome and ... A draft chromosome-scale genome assembly of a commercial sugarcane *Jeremy R. Shearman ... chromosome of any sequenced plants to date. Here, the authors assemble its genome and reveal the association of a list of ...

https://www.nature.com/subjects/genetics?error=cookies_not_supported&code=c267e226-eefc-4315-a7b9-6ec098be98a2

Human homeo box-containing genes located at chromosome regions 2q31→2q37 and 12q12→12q13. In: American Journal of Human ... The human homeo box-containing cluster of genes at chromosome region 17q21 is the human cognate of the mouse homeo box- ... The human homeo box-containing cluster of genes at chromosome region 17q21 is the human cognate of the mouse homeo box- ... The human homeo box-containing cluster of genes at chromosome region 17q21 is the human cognate of the mouse homeo box- ...

https://moh-it.pure.elsevier.com/en/publications/human-homeo-box-containing-genes-located-at-chromosome-regions-2q

2. Human Chromosomes. 3. The Sex Chromatin Body, its Finer Structure and Behavior during Amitosis. 4. Mammalian Sex Chromosomes ... 8. The Sex Chromosomes and the Development of Human Intersexes. 9. Congenital Adrenal Insufficiency with Lipoid Adrenal ... The second part deals first with the fundamentals of sex chromosomes and the development of human intersexes. The discussion ... Observations on Sex Chromatin in Human Tumors. Discussion on the Symposium. General Discussion. Concluding Remarks. ...

https://www.elsevier.com/books/symposium-on-nuclear-sex/robertson-smith/978-1-4832-0091-0

Here we present a method to identify isoforms by their specific signatures on chromosomes including both exons and junctions. ... 2008) Alternative isoform regulation in human tissue transcriptomes. Nature, 456(7221), 470-6. ... Ji, Y. and Wei, J. (2013) Isoform Inference From RNA-Seq Samples Based on Gene Structures on Chromosomes. Journal of ... Here we present a method to identify isoforms by their specific signatures on chromosomes including both exons and junctions. ...

https://www.scirp.org/journal/paperinformation.aspx?paperid=27707

Recombinant human DNA polymerase η (hpol η) can replicate oligonucleotide templates containing 1,N6-ϵdA. In steady-state ... The majority of human DNA polymerases have been reported to misinsert ribonucleotides into genomes. However, only PrimPol, DNA ... The abundant DNA adduct N7-methyl deoxyguanosine contributes to miscoding during replication by human DNA polymerase η. Journal ... Human DNA polymerase η has reverse transcriptase activity in cellular environments. Journal of Biological Chemistry ...

https://www.jbc.org/DNA-Chromosomes?startPage=&ContribAuthorRaw=Su%2C%20Yan

Human chromosomes weigh about 20 times heavier than the DNA within them. So wheres all this extra mass coming from? How much ... Each human cell normally contains 23 pairs of chromosomes. Within each chromosome is one DNA molecule and a plethora of ... a team of researchers recently measured the mass of the 46 human chromosomes.. The results were surprising: Each chromosome was ... Human chromosomes weigh about 20 times heavier than the DNA within them. So wheres all this extra mass coming from?. How much ...

https://forum.facmedicine.com/threads/scientists-puzzled-by-unexplained-excess-mass-lurking-in-human-chromosomes.66924/

Genes Chromosomes Cancer. 2006 Jun;45(6):583-91. PMID: 16518851. Repasky GA, Chenette EJ, Der CJ. Renewing the conspiracy ... 1996 - 2022 Humpath.com - Human pathology Site Map , Log in , Contact , RSS 2.0 ... 2013 Feb 12. doi : 10.1002/ijc.28106 PMID: 23404247. Chen Y, Takita J, Hiwatari M, Igarashi T, Hanada R, Kikuchi A, Hongo T, ... 2006 Feb 12; PMID: 16474405. Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach ...

https://www.humpath.com/spip.php?article2982

... human chromosome 1; صبغي 1; χρωμόσωμα 1; Chromosoma 1; cromosoma umano; মানব ক্রোমোজম; chromosome humain; 人類染色體; humant ... Media in category "Human chromosome 1". The following 50 files are in this category, out of 50 total. ... Human chromosome 01 with ASD genes from IJMS-16-06464.png 644 × 2,828; 582 KB. ... Human chromosome 01 from Gene Gateway - with label.png 1,301 × 2,340; 403 KB. ...

https://commons.wikimedia.org/wiki/Category:Human_chromosome_1

Chromosome-centric human proteome project (C-HPP): Chromosome 12. Chaiyarit, S., Singhto, N., Chen, Y. J., Cheng, C. Y., ... Human Protein Reference Database and Human Proteinpedia as resources for phosphoproteome analysis. Goel, R., Harsha, H. C., ... Human protein reference database and human proteinpedia as discovery resources for molecular biotechnology. Goel, R., Muthusamy ... Unraveling the human interactome: Lessons from the yeast. Navarro, J. D. & Pandey, A., Apr 2004, In: Drug Discovery Today: ...

https://mayoclinic.pure.elsevier.com/en/persons/akhilesh-pandey/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Fsystematicreview

The mission of the National Office of Public Health Genomics is to integrate advances in human genetics into public health ... Deletion in chromosome 17p11.2 including peripheral myelin protein-22 (PMP22) gene in hereditary neuropathy with liability to ... In both human and mouse, the myelin tomaculae are present, suggesting that the mice are useful animal models for HNPP (28). ... Human Mutat. 1999;13:11-28. *. Silander K, Halonen P, Sara R, et al. DNA analysis in Finnish patients with hereditary ...

https://www.cdc.gov/genomics/resources/books/huge/chap29.htm

European Journal of Human Genetics (10.1038/ejhg.2017.47). *Harper, P. S. 2017. Human genetics in troubled times and places. ... Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12. Human Genetics 91(4), ... European Journal of Human Genetics (10.1038/ejhg.2017.47). *Harper, P. S. 2017. Human genetics in troubled times and places. ... European Journal of Human Genetics (10.1038/ejhg.2017.34). *Harper, P. 2017. Some pioneers of European human genetics. ...

https://www.cardiff.ac.uk/people/view/357829-harper-peter

Twelve genes located on human chromosomes 6, 9 and 15 were mapped by linkage or physically by a radiation hybrid panel to pig ... Porcine chromosome 1 is similiar to human chromosomes 6, 9, 14, 15 and 18. The purpose of this study was to assign genes to the ... carcass and reproductive traits were comparatively mapped on pig chromosome 1. Seven genes with human homologs on chromosomes 6 ... and eight genes with human homologs on chromosomes 6, 9 and 15 (RPL24, NTRK3, TMEM2, PTGS1, CIZ1, SLC27A4, GFI1B and AGPAT2) ...

https://www.ars.usda.gov/research/publications/publication/?seqNo115=182959

Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6. Am J Hum Genet. 1988 Jun. 42 (6):839-46. [QxMD MEDLINE ... A knock-out mouse model similar to the mut0 human form of methylmalonic acidemia has been developed. [16] This model may ... Although there are 13 exons of the MUT gene, the most deleterious mutations were located in exon 12, then exon 9, exon 11, and ... with a median survival of approximately 6 years. [44] Neurologic outcomes remained unchanged despite dietary modifications and ...

https://emedicine.medscape.com/article/1161799-overview

Reciprocal monoallelic expression of ASAR lncRNA genes controls replication timing of human chromosome 6. RNA. 2020;26(6):724- ... Monitoring Neutrophil Elastase and Cathepsin G Activity in Human Sputum Samples. J Vis Exp. 2021 May 21;(171). doi: 10.3791/ ... Bioaccumulation of therapeutic drugs by human gut bacteria. Nature. 2021 Sep;597(7877):533-538. doi: 10.1038/s41586-021-03891-8 ... Epub 2022 Jul 6. PMID: 35809879. Shyng SL. KATP Channel Function: More than Meets the Eye. Function (Oxf). 2022 Jan 10;3(1): ...

https://www.ohsu.edu/school-of-medicine/chemical-physiology-and-biochemistry/publications

The alteration of the same linkage groups in mouse and human indicates that the mouse is a valid model for human lung ... In addition, FISH demonstrated a 20 centimorgan duplication on chromosome 4. The duplication of chromosome 1 and 15 were ... Gain of entire copies of chromosomes 1, 2, 6, 12, 15 and 19 were observed. Loss of entire copies of chromosomes 7, 8, and 14 ... Loss of the distal portion and duplication of the proximal region of chromosome 4 were observed in the primary tumor cell ...

http://www2a.cdc.gov/nioshtic-2/BuildQyr.asp?s1=respiratory&f1=%2A&Startyear=&Adv=0&terms=1&EndYear=&Limit=10000&sort=&D1=10&PageNo=521&RecNo=5206&View=f&

Different segments of human chromosome 7 share homology with regions from 10 different mouse chromosomes including 2, 4, 5, 6, ... human 7p11.2-p13 is homologous to mouse proximal chromosome 11 and human 7q21-qter has a conserved region on proximal mouse ... An ideogram of human chromosome 7 is shown with vertical black bars indicating the two SRS candidate regions on both the p and ... The human 7q21-qter region is homologous to proximal mouse chromosome 6, which shows two distinct imprinted phenotypes in mice ...

https://jmg.bmj.com/content/38/12/810?ijkey=e4ede4220a5999f3d78c429e5a23670121351c1f&keytype2=tf_ipsecsha

From: Human Chromosome Y and Haplogroups; introducing YDHS Database. Ensembl ID Gene name HGNC No. ISOGG mutations Positive ... Table 1 Shows the names of genes located in chromosome Y with the amount of respective mutations alongside with the frequency ...

https://clintransmed.springeropen.com/articles/10.1186/s40169-015-0060-7/tables/1

Peter Harper presents a lively account of how our ideas and knowledge about human genetics have developed over the past century ... Part 2: Human Genetics 5. Human Chromosomes. 6. Human Biochemical Genetics. 7. The Human Gene Map. 8. Genes, Populations and ... Human Biochemical Genetics. 7. The Human Gene Map. 8. Genes, Populations and Human Inherited Disorders. 9. Human Genetics as a ... the identification of the first human chromosome abnormalities; and up through the completion of the Human Genome project, this ...

https://global.oup.com/academic/product/a-short-history-of-medical-genetics-9780195187502?lang=en&cc=us

"If they say why, Y? Tell em that its human nature: Evolutionary conservation on the Y-chromosome". Hughes JF, et al. Strict ... The shaping of modern human immune systems by multiregional admixture with archaic humans. Science. 2011 Oct 7;334(6052):89-94. ... evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature. 2012 Feb 22;483(7387):82-6.. ... 2011-12 Schedule. Journal Club Chairs: Doug Gould, PhD and Mike German, MD. Day/Time: Thursdays, 12:00-1:00 p.m. except as ...

https://bms.ucsf.edu/bms-journal-club-2011-12

Lelias JM, Kaghad M, Rodriguez M, et al. (1993). „Molecular cloning of a human beta 3-adrenergic receptor cDNA.". FEBS Lett. ... Dib A, Adélaïde J, Chaffanet M, et al. (1995). „Characterization of the region of the short arm of chromosome 8 amplified in ... van Spronsen A, Nahmias C, Krief S, et al. (1993). „The promoter and intron/exon structure of the human and mouse beta 3- ... Rodriguez M, Carillon C, Coquerel A, et al. (1995). „Evidence for the presence of beta 3-adrenergic receptor mRNA in the human ...

https://sh.wikipedia.org/wiki/Beta-3_adrenergi%C4%8Dki_receptor

Jeffrey Tomkins published Combinatorial genomic data refute the human chromosome 2 evolutionary fusion and build a model of ... chromosome 2 fusion model in which ape chromosomes 2A and 2B purportedly fused end--to-- end, forming human chromosome 2. ... Human chromosome 2 is a product of a telomere fusion of two ancestral chromosomes and loss/degeneration of one of the two ... 2q14.1 and paralogous regions on other human chromosomes. Genome Tomkins ◀Interstitial telomeres and chromosome 2 fusion ▶ 2018 ...

https://www.researchgate.net/publication/329761796_Combinatorial_genomic_data_refute_the_human_chromosome_2_evolutionary_fusion_and_build_a_model_of_functional_design_for_interstitial_telomeric_repeats

"Les chromosomes humains en culture de tissus [The human chromosomes in tissue culture]". Comptes Rendus Hebdomadaires des ... a malformation syndrome in which a ring-shaped chromosome replaces chromosome 13), and he identified trisomies on chromosome 9 ... This was two years after Tjio and Levan had proven that the human species has 46 chromosomes. On 13 June 1958, Lejeune ... In 1956, biologists from Lund University in Sweden announced that humans have exactly 46 chromosomes. Turpin had many years ...

https://en.wikipedia.org/wiki/J%C3%A9r%C3%B4me_Lejeune

... human prefrontal cortex. However, the association signals within chromosome 8p21.2-8p21.1 failed to replicate in an independent ... These included the top IS-associated SNP, rs62503729 (P-value = 6.48E-08), which is located within chromosome 8p21.2-8p21.1, a ... human prefrontal cortex. However, the association signals within chromosome 8p21.2-8p21.1 failed to replicate in an independent ... Developmental time course of STMN4 mRNA expression in adult CEU (Caucasian and European descent) human prefrontal cortex. (DOCX ...

https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-016-2475-y

6 hearings, former White House Counsel Pat Cipollone has been described as trying to control the fire that Trump set. He is to ... Boggs 64-question test for Cipollone included questions like "How many chromosome pairs are there in a human genome?" and " ... 6 hearings, former White House Counsel Pat Cipollone has been described as trying to control the fire that Trump set. He is to ... 6 insurrection.. "Our evidence shows that Mr. Cipollone and his office tried to do what was right. They tried to stop a number ...

https://www.npr.org/2019/12/23/790227250/trump-impeachment-trial-turns-spotlight-on-white-house-lawyer-cipollone

Characterization of X‐chromosome inactivation status in human pluripotent stem cells. JA Erwin, JT Lee ... Locus-specific targeting to the X chromosome revealed by the RNA interactome of CTCF. JT Kung, B Kesner, JY An, JY Ahn, C ... Polycomb proteins targeted by a short repeat RNA to the mouse X chromosome. J Zhao, BK Sun, JA Erwin, JJ Song, JT Lee ... L1-associated genomic regions are deleted in somatic cells of the healthy human brain. JA Erwin, A Paquola, T Singer, I Gallina ...

https://scholar.google.it/citations?user=r1wp8XIAAAAJ&hl=en&oe=ASCII

Chairman Bennie Thompson, D-Miss., has said the committee wants to ask Cipollone about Trump's efforts to subvert the election, a scheme to submit fake electoral ballots, the attempted replacement of Justice Department leadership, and attempts to directly interfere with Congress certifying the 2020 election on Jan. 6, 2021. (npr.org)
This entry was posted on October 12, 2020, in Genetic Genealogy and tagged Ancestry Compostion , german ethnicity . (kittycooper.com)

Biochem Genet 12(2):147-61, 1974. (iiar-anticancer.org)

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. (jefferson.edu)

Additionally, somatic mutations may lead to an extra copy of chromosome 12 (trisomy 12) in cancer cells, specifically a type of leukemia called chronic lymphocytic leukemia. (medlineplus.gov)
In most cases (about 70%), people with Angelman syndrome have a deletion in the maternal copy of chromosome 15. (bionity.com)
About 10% of Angelman syndrome cases are caused by a mutation in the UBE3A gene, and another 3% result from a defect in the DNA region that controls the activation of the UBE3A gene and other genes on the maternal copy of chromosome 15. (bionity.com)
In 1958, while working in Raymond Turpin 's laboratory with Marthe Gautier , Jérôme Lejeune reported that he had discovered that Down syndrome was caused by an extra copy of chromosome 21 . (wikipedia.org)
Down Syndrome is a genetic disorder caused by the presence of the third copy of chromosome 21 (total or partial). (bvsalud.org)

The third cDNA clone, c8, in which the homeo box is ~84% homologous to the mouse Hox-1.1 homeo box region on mouse chromosome 6, maps to chromosome region 12q12→12q13, a region that is involved in chromosome abnormalities in human seminomas and teratomas. (elsevier.com)
The disorder is clinically and genetically heterogeneous, and various modes of inheritance and abnormalities involving chromosomes 7, 8, 15, 17, and 18 have been associated with SRS and SRS-like cases. (bmj.com)
Live imaging showed a significant increase in mitosis abnormalities, including multipolar spindle, chromosome laggards, micronuclei and death of progeny after cell division. (bvsalud.org)
Our study reinforces the link between ZIKV and abnormalities in the developing human brain, including microcephaly. (bvsalud.org)

6: 39775, 2016 12 23. (bvsalud.org)

Giant chromosomes from salivary gland of Chironomus, squash preparation stained for chromomeres 11(f). (3bscientific.com)
In the 1920s and 1930s, Painter studied the chromosomes of the salivary gland giant chromosomes of the fruit fly (Drosophila melanogaster), with Hermann J. Muller. (asu.edu)
Salivary gland neoplasms make up 6% of all head and neck tumors. (medscape.com)

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
Two copies of chromosome 12, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
Chromosome 12 spans almost 134 million DNA building blocks (base pairs) and represents between 4 and 4.5 percent of the total DNA in cells. (medlineplus.gov)
Chromosome 15 is one of the 23 pairs of chromosomes in humans. (bionity.com)
Chromosome 15 spans about 106 million base pairs (the building material of DNA ) and represents between 3% and 3.5% of the total DNA in cells . (bionity.com)
Each human cell normally contains 23 pairs of chromosomes. (facmedicine.com)
All the chromosomes in the cells came in pairs. (wepapers.com)
Sep 22, 2022 Telomere vesicles retained the Rad51 recombination factor that enabled telomere fusion with T-cell chromosome ends lengthening them by an average of 3,000 base pairs. (hilfenetzwerk-cic.de)
There are 23 pairs of chromosomes in the cell of human body. (solutionsclass.com)
Out of these, 22 pairs do not take part in sex-determination in human beings. (solutionsclass.com)

Chromosomes, Human, Pair 7" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (jefferson.edu)
This graph shows the total number of publications written about "Chromosomes, Human, Pair 7" by people in this website by year, and whether "Chromosomes, Human, Pair 7" was a major or minor topic of these publications. (jefferson.edu)
Below are the most recent publications written about "Chromosomes, Human, Pair 7" by people in Profiles. (jefferson.edu)
Two peer-reviewed papers and a book chapter have already been published in the ID-community related to modeling these questions, and early evidence suggests that an initial pair is capable of explaining human genetic diversity. (evolutionnews.org)
A pair of stained chromosomes under the microscope. (mpg.de)
In platypus, the XY pair is just an ordinary chromosome, with two equal members. (oniscience.com)
This suggests the mammal X and Y were an ordinary pair of chromosomes not that long ago. (oniscience.com)
The 23rd pair in gonadal cell called sex chromosome which is not always a perfect pair. (solutionsclass.com)
Women have a perfect pair having XX - chromosomes. (solutionsclass.com)
But men have a pair having XY-chromosomes. (solutionsclass.com)

Several different changes involving chromosome 12 have been reported, including an extra piece of the chromosome in each cell (partial trisomy 12), a missing segment of the chromosome in each cell (partial monosomy 12), and a circular structure called a ring chromosome 12. (medlineplus.gov)
Turpin had many years earlier proposed the idea of culturing cells to count the number of chromosomes in trisomy. (wikipedia.org)
FISH analysis for chromosomes 12 and 17 showed increased frequency of aneuploidy, such as monosomy, trisomy and polyploidy. (bvsalud.org)
It is primarily caused by trisomy of chromosome 21 (see the image below), which gives rise to multiple systemic complications as part of the syndrome. (medscape.com)

While scientists have known about this so-called X-chromosome inactivation for more than five decades, they still know little about the rules it follows, or even how it evolved. (wepapers.com)
In the journal Neuron, a team of scientists has unveiled an unprecedented view of X-chromosome inactivation in the body. (wepapers.com)
Understanding X-chromosome inactivation can also shed light on the use of stem cells in therapies. (wepapers.com)
A Japanese biologist, Susumu Ohno, first recognized X-chromosome inactivation in the late 1950s. (wepapers.com)
Also, genes that escape inactivation on the X chromosome (such as PCDH11X) could show sexually dimorphic expression and thus contribute to sexually dimorphic functions (16). (blogspot.com)

Other mouse homeo box-containing genes of the Antennapedia class (class I) map to mouse chromosomes 6 (Hox-1, proximal to the IgK locus) and 15 (Hox-3). (elsevier.com)
Twelve genes located in quantitative trait locus (QTL) intervals for growth, carcass and reproductive traits were comparatively mapped on pig chromosome 1. (usda.gov)
These included the top IS-associated SNP, rs62503729 ( P -value = 6.48E-08), which is located within chromosome 8p21.2-8p21.1, a locus previously linked to schizophrenia. (biomedcentral.com)
Studies of stuttering families from Brazil identified yet another locus, on chromosome 10, that carries a stuttering gene in this population. (nih.gov)
Studies of the chromosome 12 locus identified causative mutations in the gene GNPTAB , and additional studies identified causative mutations in the related GNPTG and NAGPA genes. (nih.gov)
Studies of the chromosome 15 locus in the Cameroonian family identified mutations in the AP4E1 gene, which encodes part of a complex involved in trafficking components within cells. (nih.gov)
This locus is already well known for associations with multiple blood cell measurements, severity of major hemoglobin disorders, and -thalassemia(6,7). (cdc.gov)
2013), a human cell gene mutation assay in the TK locus (Budinsky et al. (europa.eu)
A human cell gene mutation assay in the HPRT locus is also available, although experimental methodology is limited (Budinsky et al. (europa.eu)

Previous reports suggest that electrical forces on cell structure proteins interfered with the chromosome separation during mitosis and induced apoptosis. (nature.com)

For example, rearrangements (translocations) of genetic material between chromosome 12 and other chromosomes are often found in certain cancers of blood-forming cells (leukemias) and cancers of immune system cells (lymphomas). (medlineplus.gov)
Association between TP53 gene ARG72PRO polymorphism and chromosome aberrations in human cancers. (cdc.gov)
The generality of induction of Two major issues faced when city in humans is clear, but in other and response to radiation damage studying radiation carcinogenesis is cases the data are few or non-exist- is discussed for all types of ionizing that radiation-induced cancers are ent. (who.int)
Nevertheless, many PTC situations do not display any known somatic mutation as well as the molecular systems in charge of the initiation and development of cancers in the thyroid gland stay unexplained [6]. (euromed2016.com)

Collinge J. Human prion diseases and bovine spongiform encephalopathy (BSE). (medscape.com)
We mapped the causative variant to a 37 kb segment on bovine chromosome 3. (plos.org)

Proceedings of the abstracts of the 7th World Congress on Advances in Oncology and 5th International Symposium on Molecular Medicine: October 10-12, 2002, Hersonissos, Crete, Greece. (cdc.gov)
Byus (1984) y Paulraj (2002) reportaron una disminución de la actividad de la proteína quinasa en las ratas después de la exposición a la radiación de la RF. (rfcom.ca)
Varios estudios han mostrado un aumento en los niveles de ODC después de la exposición a un campo EM (Byus, 1997, Paulraj, 2002). (rfcom.ca)
2002 May 31;296(5573):1635-6. (smpdb.ca)

Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
Researchers are working to identify genes on chromosome 15 that are responsible for the characteristic features of Prader-Willi syndrome. (bionity.com)
Using one of the U.K.'s most powerful X-ray beams, a team of researchers recently measured the mass of the 46 human chromosomes. (facmedicine.com)
The results were surprising: Each chromosome was about 20 times heavier than the DNA contained inside them - a much greater mass than the researchers anticipated, according to their study published March 31 in the journal Chromosome Research . (facmedicine.com)
Understanding this could lead to further insights about the complex structure of chromosomes, which are studied extensively by medical labs for things like cancer diagnoses, according to the researchers. (facmedicine.com)
With this model, the researchers could calculate the precise number of electrons in each chromosome, allowing the researchers to estimate the chromosomes' total mass. (facmedicine.com)
A team of researchers at the Max Planck Institute for Molecular Genetics and Charité - Universitätsmedizin Berlin led by human geneticists Malte Spielmann and Stefan Mundlos analyzed clinical samples from patients with genetic developmental disorders with the Hi-C method. (mpg.de)
The researchers applied a method called 'Hi-C' (High-throughput Chromosome Conformation Capture) to samples from patients with developmental disorders suspected to be caused by chromosomal rearrangements. (mpg.de)
Because Denisovans are so genetically similar to the other humans, researchers assume they were also "a very capable species," says Reich. (discovermagazine.com)
Sturtevant, Morgan, and other researchers established that chromosomes play a role in the inheritance of traits. (asu.edu)

Human ornithine decarboxylase-encoding loci: nucleotide sequence of the expressed gene and characterization of a pseudogene. (jefferson.edu)
1993. Identification and characterization of new human medium reiteration frequency repeats. . (oregonstate.edu)
Ryu SW, Chae SK, Lee KJ, Kim E: Identification and characterization of human Fas associated factor 1, hFAF1. (smpdb.ca)

Biochem Biophys Res Commun, 2007 Apr 6. (nih.gov)

Although there are 13 exons of the MUT gene, the most deleterious mutations were located in exon 12, then exon 9, exon 11, and exon 2. (medscape.com)
We engineered mouse lines that carry mutations that cause stuttering in humans. (nih.gov)
Like the humans who carry these mutations, these mice are normal in all ways measured to date, except that they display subtle differences in their ultrasonic vocalizations. (nih.gov)
The structural chromosome alterations may arise at the chromosome level (e.g., translocations and gains or losses of large portions of chromosomes) or at the nucleotide level, which influence gene structure or expression such as mutations, insertions, deletions, gene amplifications, and gene silencing by epigenetic effects ( Jefford and Irminger-Finger, 2006 ). (frontiersin.org)
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. (medscape.com)

This occurs under the influence of a cascade of genes, starting with the sex-determining gene on the Y chromosome (SRY). (blogspot.com)
The sex of human and other mammal babies is decided by a male-determining gene on the Y chromosome. (oniscience.com)

The investigation of imprinted genes on chromosome 7 and candidate genes from other chromosomal locations are also discussed with regard to their potential role in SRS. (bmj.com)

Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. (jefferson.edu)

Cells normally have two copies of each chromosome, one inherited from each parent. (medlineplus.gov)
In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. (medlineplus.gov)
These cells have a total of four copies of all the genes on the p arm of chromosome 12. (medlineplus.gov)
Our measurement suggests the 46 chromosomes in each of our cells weigh 242 picograms (trillionths of a gram),' study co-author Ian Robinson, a professor of physics at University College, London, said in a statement . (facmedicine.com)
Within each chromosome is one DNA molecule and a plethora of proteins that serve a variety of functions, such as compressing your 6.5-foot-long (2 meters) strands of DNA into teensy bundles small enough to fit into individual cells. (facmedicine.com)
The duplication of chromosome 1 and 15 were associated with the ability of cells to invade a gel matrix. (cdc.gov)
human cancer cells. (researchgate.net)
To investigate the nature of chromosomes, Henking examined cells under a simple microscope. (wepapers.com)
Interactions between human fibroblastsand HeLa cells in vitro. (iiar-anticancer.org)
Nonrandom association of acrocentric chromosomes in human epithelial cells. (iiar-anticancer.org)
Double minutes in fibroblast-like cells isolated from human tumors. (iiar-anticancer.org)
Interactions between human lymphoblastoid cells and human fibroblast feeder layers in vitro. (iiar-anticancer.org)
Some foetal rat brain cells undergo sexual differentiation, even in tissue culture, without the involvement of sex hormones (11,12). (blogspot.com)
This androgen-regulated and tumorigenic human prostate cancer cell line provides a valuable tool for studies on androgen regulation of prostate cancer cells and on the molecular mechanisms taking place in growth promotion of prostate cancer when androgens are withdrawn from the growth environment. (aacrjournals.org)
It's not so easy with human cells. (fortune.com)
Blackburn says telomerase can be a mixed blessing: while the enzyme allows the renewal of useful, necessary human cells-like blood cells-it also promotes the spread of cancer cells. (fortune.com)
To investigate the deleterious effects of ZIKV infection, we used human neural progenitor cells (NPC), derived from induced pluripotent stem cells (iPSC). (bvsalud.org)
An over-proliferation of cells that have left their surrounding tissue leads to naevi, and in rare cases to congenital melanomas [ 6 - 8 ]. (plos.org)
This 400kb region is rich with genetic variants associated with blood cell traits such as platelet count, myeloid white cell count, and neutrophil percentage of white cells(11,12). (cdc.gov)
Cells that help the human body reproduce. (flashcardmachine.com)
Number of chromosomes found in human body cells and sex cells. (flashcardmachine.com)
More papers have been published on unintended outcomes and risks of gene editing in medical research on human and animal cells and laboratory animals, compared with plants. (gmwatch.org)
The studies listed below are on human and animal cells, laboratory animals, livestock animals, and plants. (gmwatch.org)

Translocations involving chromosome 12 are involved in a type of blood cell cancer called PDGFRB -associated chronic eosinophilic leukemia. (medlineplus.gov)
Changes in chromosome 12 have been identified in several types of cancer. (medlineplus.gov)
Genes Chromosomes Cancer. (humpath.com)
These same linkage groups are altered in human lung cancer. (cdc.gov)
In addition, the chromosomal loci associated with invasion are amplified in both mouse and human lung cancer. (cdc.gov)
One of the major obstacles in understanding the molecular mechanisms underlying the transition of prostate cancer growth from androgen dependency to a hormone-refractory state is the lack of androgen-regulated and tumorigenic human prostate cancer cell lines. (aacrjournals.org)
We have established and characterized a new human prostate cancer cell line, CWR22Pc, derived from the primary CWR22 human prostate xenograft tumors. (aacrjournals.org)
Genes, chromosomes & cancer 2010 Sep 49 (9): 851-9. (cdc.gov)
Objectives: To quantify end-of-life (EOL) medical costs to register how to get skelaxin without a doctor pediatric cancer incidence rates varied widely can i buy skelaxin over the counter by age, sex, and the 6 dependent areas, 2012. (bookmyaward.com)

Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). (medlineplus.gov)
Maybe he saw it as an extra chromosome. (wepapers.com)

The human homeo box-containing cluster of genes at chromosome region 17q21 is the human cognate of the mouse homeo box-containing gene cluster on mouse chromosome 11. (elsevier.com)
A mouse gene, En-1, with an engrailed-like homeo box (class II) and flanking region maps to mouse chromosome 1 (near the dominant hemimelia gene). (elsevier.com)
Amplification of mouse chromosome 4 in chemically induced and invasive mouse lung adenocarcinoma. (cdc.gov)

Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. (medlineplus.gov)
the full syndrome will usually occur with a dose greater than approximately 10 Gy (1000 rads) although some symptoms may occur as low as 6 Gy or 600 rads. (cdc.gov)
Some genetic diseases, such as haemophilia, are carried on the X-chromosome (these X-linked disorders occur mainly in men). (who.int)
But before this complete speciation could occur, the three human lineages crossed paths and chromosomes: There were numerous episodes of interbreeding between the groups. (discovermagazine.com)

1990a, 1990b, 1995) reportaron un aumento de la proliferación celular en experimentos realizados utilizando células de un glioma cerebral, linfocitos humanos y células ováricas de Hámster. (rfcom.ca)
Los experimentos in Vivo de Lai y Singh (1995, 1996) ameritan especial atención, teniendo en cuenta el interés que despertaron. (rfcom.ca)
1995 May 19;81(4):505-12. (smpdb.ca)

Mice are mammals of the clade (a group consisting of an ancestor and all its descendants) Euarchontoglires , which means they are amongst the closest non- primate relatives of humans along with lagomorphs , treeshrews , and flying lemurs . (wikipedia.org)
But this can't happen in humans or other mammals because we have at least 30 crucial "imprinted" genes that work only if they come from the father via sperm. (oniscience.com)
Painter also studied chromosomes in mammals. (asu.edu)
The major genome-wide association hit on chromosome 8, well known from other mammals, overlapped the RNF212 gene in most populations in females, and to a lesser extent in males. (onunicornsandgenes.blog)

Blackburn is famous for her work on telomeres-the chromosome-capping entities that protect genetic material as it replicates. (fortune.com)
Recombination between chromosomes during meiosis leads to shuffling of genetic material between chromosomes, creating new combinations of alleles. (onunicornsandgenes.blog)

In the Section on Genetics of Communication Disorders (Laboratory of Communication Disorders), we used family- and population-based genetic methods to identify genes responsible for human communication disorders. (nih.gov)

European Journal of Human Genetics 25, pp. (cardiff.ac.uk)
European Journal of Human Genetics 25(10), article number: 1098. (cardiff.ac.uk)
European Journal of Human Genetics, 16(6):766-767. (uzh.ch)

We studied variants in genes encoding components of the human taste perception machinery, including genes encoding taste receptors, to evaluate the hypothesis that such genetic variation is associated with mentholated tobacco use, or with tobacco use in general. (nih.gov)
The associated SNPs in our study fall within HBS1L-MYB intergenic region known to harbor multiple variants that reduce transcription factor binding, affect long-range interaction with MYB , and impact MYB expression(6,8). (cdc.gov)
Fabry disease (FD) is a genetic disease, with X-chromosome linked inheritance, due to variants in the GLA gene that encodes the α-galactosidase A (α-GAL) enzyme. (bvsalud.org)

Loss of the distal portion and duplication of the proximal region of chromosome 4 were observed in the primary tumor cell cultures. (cdc.gov)

Comparative cytogenetics of mouse and human lung adenocarcinoma. (cdc.gov)

Prader-Willi syndrome is caused by the loss of active genes in a specific part of chromosome 15, the 15q11-q13 region. (bionity.com)
Therefore, a person with a deletion in the paternal chromosome 15 will have no active genes in this region. (bionity.com)
human chromosome 2 are situated inside active genes negating the idea of fusion. (researchgate.net)
In turn, this must mean the Y chromosome has lost 900-55 active genes over the 166 million years that humans and platypus have been evolving separately. (oniscience.com)

The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 12. (medlineplus.gov)
People normally have two copies of this chromosome. (bionity.com)
The following conditions are caused by changes in the structure or number of copies of chromosome 15. (bionity.com)
Because the copy of the UBE3A gene inherited from a person's father (the paternal copy) is normally inactive in the brain, a deletion in the maternal chromosome 15 results in no active copies of the UBE3A gene in the brain. (bionity.com)
In 3% to 7% of cases, Angelman syndrome occurs when a person has two copies of the paternal chromosome 15 instead of one copy from each parent. (bionity.com)
People with paternal UPD for chromosome 15 have two copies of the UBE3A gene, but they are both inherited from the father and are therefore inactive in the brain. (bionity.com)
People normally have two copies of this chromosome in each cell, one copy from each parent. (bionity.com)
Loss of entire copies of chromosomes 7, 8, and 14 were significant in the primary tumor cell cultures. (cdc.gov)
While all DNA is stained blue, a specific sequence stained pink appears duplicated in one of the two copies of chromosome 17, but not the other. (mpg.de)

Illustrating that, here is a figure from the paper showing how recombination rate varies along the chromosomes of the pig genome. (onunicornsandgenes.blog)
Female recombination rate is higher than male recombination rate on most chromosomes, and in particular in regions of higher recombination rate in the middle of certain chromosomes. (onunicornsandgenes.blog)
Fig 6 from the paper, showing genome-wide association results for eight of the populations (one had too few individuals with recombination rate estimates after filtering for GWAS). (onunicornsandgenes.blog)
We find a similar sex difference, with higher recombination in females on all autosomes except chromosome 1 and 13, and a stronger association with GC content in females. (onunicornsandgenes.blog)

El Grupo de Expertos Independientes en teléfonos Móviles (2000), sin embargo, declara en su informe que: ' En general los estudios reportan un aumento moderado de la actividad ODC sólo a frecuencias moduladas de cerca de 10-60 Hz. (rfcom.ca)
2000 Dec. 37(12):E47. (medscape.com)

So having two X chromosomes gives females more genetic diversity than males, with their single X chromosome. (wepapers.com)

Many FA patients (about 30%) do not have any of the classic physical findings, but diepoxybutane chromosome fragility assay showing increased chromosomal breaks can make the diagnosis. (wikipedia.org)
1986), a human cell micronucleus assay (Budinsky et al. (europa.eu)
Roche Amplicor HIV-1 DNA PCR and the Abbott Realtime HIV-1 assay was 100 identifying 12 positive cases. (bvsalud.org)

1975. 12:71-90;294. (medscape.com)

[1] , [2] The gene is located on chromosome 17q21 and encodes a 185 kDa protein. (indianjcancer.com)

Four human homeo box-containing cDNAs isolated from mRNA of an SV40-transformed human fibroblast cell line have been regionally localized on the human gene map. (elsevier.com)
For one thing, females shut down an X chromosome in every cell, leaving only one active. (wepapers.com)
In every female cell that he and his colleagues studied, they found that one of the two X chromosomes had shriveled into a dormant clump. (wepapers.com)
regulator TET1 is highly expressed in T-cell ALL and is crucial for human T-ALL cell growth in vivo(19). (cdc.gov)
A cell with one of every kind of chromosome. (flashcardmachine.com)
Liu C, Cheng J, Mountz JD: Differential expression of human Fas mRNA species upon peripheral blood mononuclear cell activation. (smpdb.ca)

As a major form of genomic instability, chromosomal instability comprises aberrant chromosome numbers (i.e., aneuploidy or polyploidy) and structural changes in chromosomes. (frontiersin.org)

Melphalan produces chromosomal aberrations in vitro and in vivo and, therefore, should be considered potentially mutagenic in humans. (nih.gov)

The EUROGEM map of human chromosome 12. (archives-ouvertes.fr)

That's a drastic step to take, given that the X chromosome has more than 1,000 genes. (wepapers.com)

Cromosomas humanos submetacéntricos de tamaño medio que, en la clasificación cromosómica humana constituyen el grupo C. Este grupo está constituido por los pares de cromosomas 6, 7, 8, 9, 10, 11 y 12, así como el cromosoma X. (bvsalud.org)

Each of these families has multiple cases of stuttering, and our genetic linkage studies identified major linkage signals, indicating different causative genes, on chromosomes 12, 3, and 16. (nih.gov)

A Combined Human in Silico and CRISPR/Cas9-Mediated in Vivo Zebrafish Based Approach to Provide Phenotypic Data for Supporting Early Target Validation. (exeter.ac.uk)

The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. (bvsalud.org)

Although Pallister-Killian mosaic syndrome is usually caused by an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases. (medlineplus.gov)
Angelman syndrome results from a loss of gene activity in a specific part of chromosome 15, the 15q11-q13 region. (bionity.com)
In about 70% of cases, Prader-Willi syndrome occurs when the 15q11-q13 region of the paternal chromosome 15 is deleted. (bionity.com)
[12] In August 1958 the photographs identified the supernumerary chromosome in Down syndrome patients. (wikipedia.org)
The laboratory notebook begun by Lejeune on 10 July 1957 indicates that on 22 May 1958 he succeeded in showing, for the first time, the presence of 47 chromosomes in a child with Down syndrome. (wikipedia.org)
Il s'agit de la première série de cas du syndrome de Sanjad-Sakati confirmés génétiquement en Jordanie. (who.int)
Down syndrome is by far the most common and best known chromosomal disorder in humans and the most common cause of intellectual disability. (medscape.com)
Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L. Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome. (medscape.com)

American Journal of Human Genetics , 41 (1), 1-15. (elsevier.com)
American Journal of Human Genetics 69(4), pp. 547-547. (cardiff.ac.uk)
As the team led by human geneticists Stefan Mundlos and Malte Spielmann describe in the current issue of The American Journal of Human Genetics , a method from basic research could improve clinical diagnostics considerably at some point in the future. (mpg.de)

Correction: Comprehensive molecular profiling of UV-induced metastatic melanoma in Nme1/Nme2-deficient mice reveals novel markers of survival in human patients Oncogene. (usc.edu)
Mice belong to the Euarchontoglires clade, which includes humans. (wikipedia.org)
This close relationship, the associated high homology with humans, their ease of maintenance and handling, and their high reproduction rate, make mice particularly suitable models for human-oriented research. (wikipedia.org)

Collinge J. Prion diseases of humans and animals: their causes and molecular basis. (medscape.com)
Molecular Subtyping of PrP res in Human Sporadic CJD Brain Tissue. (medscape.com)
The same pattern of selective degeneration has been observed following exposure to 1-methyl-4-phenyl-1, 2, 3, 6-tetrahydropyradine (MPTP), a mitochondrial complex I inhibitor which recapitulates many of the molecular pathologies associated with PD. (msu.edu)
Molecular carcinogenesis 2010 Jun 49 (6): 521-4. (cdc.gov)

Anatomy67

Organisms11

Diseases28

Chemicals and Drugs28

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

Psychiatry and Psychology1

Phenomena and Processes170

Disciplines and Occupations1

Technology, Industry, Agriculture2

Information Science4

Health Care1

Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q. (1/415)

Interacting populations affecting proliferation of leukemic cells in culture. (2/415)

Nonrandom chromosomal abnormalities in hematologic disorders of man. (3/415)

De novo appearance of the ph-1 chromosome in a previously monosomic bone marrow (45,XX,-6): conversion of a myeloproliferative disorder to acute myelogenous leukemia. (4/415)

Removal of abnormal clone of leukaemic cells by splenectomy. (5/415)

Genetics of somatic mammalian cells: genetic, immunologic, and biochemical analysis with Chinese hamster cell hybrids containing selected human chromosomes. (6/415)

Discordant patterns of chromosome changes and myeloblast proliferation during the terminal phase of chronic myeloid leukemia. (7/415)

Trisomy 8 in the bone marrow associated with high red cell glutathione reductase activity. (8/415)

Chromosomes

Chromosome Mapping

X Chromosome

Chromosome Banding

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, Mammalian

Chromosomes, Human, Pair 13

Chromosomes, Human, Pair 4

Chromosomes, Human, Pair 10

Chromosomes, Human, Y

Chromosomes, Human, Pair 8

Chromosomes, Human, Pair 19

Chromosome Disorders

Chromosomes, Artificial, Bacterial

Chromosomes, Human, X

Chromosome Painting

Chromosomes, Human, Pair 12

Chromosomes, Human, 1-3

Chromosomes, Human, Pair 5

Chromosomes, Human, Pair 15

Karyotyping

Chromosomes, Human, Pair 14

Chromosomes, Human, Pair 18

In Situ Hybridization, Fluorescence

Chromosomes, Human, 16-18

Chromosomes, Human, Pair 20

Chromosomes, Artificial, Yeast

Chromosomes, Human, 13-15

Genetic Linkage

Chromosome Breakage

Chromosomes, Human, 21-22 and Y

Ring Chromosomes

Chromosome Inversion

Genetic Markers

Chromosome Positioning

Chromosomes, Human, 4-5

Molecular Sequence Data

X Chromosome Inactivation

Base Sequence

Centromere

Chromosomes, Insect

Translocation, Genetic

Hybrid Cells

Meiosis

Chromosome Structures

Chromosomes, Human, 19-20

Aneuploidy

Metaphase

Mitosis

Recombination, Genetic

Crosses, Genetic

Mutation

Lod Score

Pedigree

Microsatellite Repeats

Phenotype

Alleles

Cloning, Molecular

Trisomy

Nondisjunction, Genetic

Kinetochores