In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Any method used for determining the location of and relative distances between genes on a chromosome.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Actual loss of portion of a chromosome.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The alignment of CHROMOSOMES at homologous sequences.
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.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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.
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.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
A specific pair of GROUP 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 clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
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.
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.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
Structures which are contained in or part of CHROMOSOMES.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
The 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.
DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
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 terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
A 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 technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.
Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.
The 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.
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.
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.
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 multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
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.
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.
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.
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)
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.
An individual having different alleles at one or more loci regarding a specific character.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
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.
The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.
The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).
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 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.
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.
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 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.
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.
Genotypic differences observed among individuals in a population.
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
The 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)
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
The 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.
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
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 ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
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.
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 condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
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.
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.
Genes that are located on the X CHROMOSOME.
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.
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.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
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.
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.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
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.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
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).
Genes that influence the PHENOTYPE only in the homozygous state.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
Established cell cultures that have the potential to propagate indefinitely.
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
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.
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
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)
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The degree of replication of the chromosome set in the karyotype.
An individual in which both alleles at a given locus are identical.
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.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
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.
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.
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.
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 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)
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
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.
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.
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 biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
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)
The functional hereditary units of BACTERIA.
The genetic complement of a plant (PLANTS) as represented in its DNA.
DNA present in neoplastic tissue.
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.
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.
A characteristic symptom complex.
The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.
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.
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.
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.
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.
Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.
A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.
Genes that 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.
Deoxyribonucleic acid that makes up the genetic material of plants.
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 mechanisms by which the SEX of an individual's GONADS are fixed.
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)
The functional hereditary units of INSECTS.
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.
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 characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
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.
A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.
The 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)
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

Association of snRNA genes with coiled bodies is mediated by nascent snRNA transcripts. (1/2035)

BACKGROUND: Coiled bodies are nuclear organelles that are highly enriched in small nuclear ribonucleoproteins (snRNPs) and certain basal transcription factors. Surprisingly, coiled bodies not only contain mature U snRNPs but also associate with specific chromosomal loci, including gene clusters that encode U snRNAs and histone messenger RNAs. The mechanism(s) by which coiled bodies associate with these genes is completely unknown. RESULTS: Using stable cell lines, we show that artificial tandem arrays of human U1 and U2 snRNA genes colocalize with coiled bodies and that the frequency of the colocalization depends directly on the transcriptional activity of the array. Association of the genes with coiled bodies was abolished when the artificial U2 arrays contained promoter mutations that prevent transcription or when RNA polymerase II transcription was globally inhibited by alpha-amanitin. Remarkably, the association was also abolished when the U2 snRNA coding regions were replaced by heterologous sequences. CONCLUSIONS: The requirement for the U2 snRNA coding region indicates that association of snRNA genes with coiled bodies is mediated by the nascent U2 RNA itself, not by DNA or DNA-bound proteins. Our data provide the first evidence that association of genes with a nuclear organelle can be directed by an RNA and suggest an autogenous feedback regulation model.  (+info)

Karyotyping of human oocytes by chromosomal analysis of the second polar bodies. (2/2035)

This paper describes a method for obtaining metaphase chromosomes from human second polar bodies. The second polar body nucleus was injected into the cytoplasm of an enucleated oocyte, which is activated shortly after injection. When the polar body nucleus is transformed into a haploid pronucleus, treatment with okadaic acid was used to induce premature chromosome condensation. A total of 25 analysable chromosome plates were obtained from 38 polar bodies karyotyped using this technique. Whole chromosome painting was used to detect second polar bodies (and respectively, oocytes) with unbalanced translocations. In combination with the first polar body analysis, this technique may be useful in preimplantation genetic diagnosis for patients carrying maternal translocations.  (+info)

Preimplantation diagnosis by fluorescence in situ hybridization using 13-, 16-, 18-, 21-, 22-, X-, and Y-chromosome probes. (3/2035)

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

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. (4/2035)

Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis. The FMF gene (MEFV) was cloned recently, and four missense mutations were identified. Here we present data from non-Ashkenazi Jewish and Arab patients in whom we had not originally found mutations and from a new, more ethnically diverse panel. Among 90 symptomatic mutation-positive individuals, 11 mutations accounted for 79% of carrier chromosomes. Of the two mutations that are novel, one alters the same residue (680) as a previously known mutation, and the other (P369S) is located in exon 3. Consistent with another recent report, the E148Q mutation was observed in patients of several ethnicities and on multiple microsatellite haplotypes, but haplotype data indicate an ancestral relationships between non-Jewish Italian and Ashkenazi Jewish patients with FMF and other affected populations. Among approximately 200 anonymous Ashkenazi Jewish DNA samples, the MEFV carrier frequency was 21%, with E148Q the most common mutation. Several lines of evidence indicate reduced penetrance among Ashkenazi Jews, especially for E148Q, P369S, and K695R. Nevertheless, E148Q helps account for recessive inheritance in an Ashkenazi family previously reported as an unusual case of dominantly inherited FMF. The presence of three frequent MEFV mutations in multiple Mediterranean populations strongly suggests a heterozygote advantage in this geographic region.  (+info)

Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews. (5/2035)

The type II and type III mutations at the FXI locus, which cause coagulation factor XI deficiency, have high frequencies in Jewish populations. The type III mutation is largely restricted to Ashkenazi Jews, but the type II mutation is observed at high frequency in both Ashkenazi and Iraqi Jews, suggesting the possibility that the mutation appeared before the separation of these communities. Here we report estimates of the ages of the type II and type III mutations, based on the observed distribution of allelic variants at a flanking microsatellite marker (D4S171). The results are consistent with a recent origin for the type III mutation but suggest that the type II mutation appeared >120 generations ago. This finding demonstrates that the high frequency of the type II mutation among Jews is independent of the demographic upheavals among Ashkenazi Jews in the 16th and 17th centuries.  (+info)

New strategy for multi-colour fluorescence in situ hybridisation: COBRA: COmbined Binary RAtio labelling. (6/2035)

Multicolour in situ hybridisation (MFISH) is increasingly applied to karyotyping and detection of chromosomal abnormalities. So far 27 colour analyses have been described using fluorescently labelled chromosome painting probes in a so-called combinatorial approach. In this paper a new strategy is presented to use efficiently the currently available number of spectrally separated fluorophores in order to increase the multiplicity of MFISH. We introduce the principle of COBRA (COmbined Binary RAtio labelling), which is based on the simultaneous use of combinatorial labelling and ratio labelling. Human chromosome painting in 24 colours is accomplished using four fluorophores only. Three fluorophores are used pair wise for ratio labelling of a set of 12 chromosome painting probes. The second set of 12 probes is labelled identically but is also given a binary label (fourth fluorophore). The COBRA method is demonstrated on normal human chromosomes and on a lymphoma (JVM) cell line, using probes enzymatically labelled with fluorescein, lissamine and cy5 as primary fluorophores, and diethylaminocoumarin (DEAC), a blue dye, as combinatorial fourth label to demonstrate incorporated digoxigenin. In addition, the principle was tested using chemical labelling. The first set of 12 painting probes was therefore labelled by ULS (Universal Linkage System), using DEAC, cy3 and cy5 as primary labels, and the second set was labelled similarly, but also contained a digoxigenin-ULS label, which was indirectly stained with fluorescein. Subsequently, a mathematical analysis is presented and methods are indicated for achieving an MFISH multiplicity of 48, 96 or even higher using existing technology.  (+info)

Evidence for a relatively random array of human chromosomes on the mitotic ring. (7/2035)

We used fluorescence in situ hybridization (FISH) to study the positions of human chromosomes on the mitotic rings of cultured human lymphocytes, MRC-5 fibroblasts, and CCD-34Lu fibroblasts. The homologous chromosomes of all three cell types had relatively random positions with respect to each other on the mitotic rings of prometaphase rosettes and anaphase cells. Also, the positions of the X and Y chromosomes, colocalized with the somatic homologues in male cells, were highly variable from one mitotic ring to another. Although random chromosomal positions were found in different pairs of CCD-34Lu and MRC-5 late-anaphases, the separations between the same homologous chromosomes in paired late-anaphase and telophase chromosomal masses were highly correlated. Thus, although some loose spatial associations of chromosomes secondary to interphase positioning may exist on the mitotic rings of some cells, a fixed order of human chromosomes and/or a rigorous separation of homologous chromosomes on the mitotic ring are not necessary for normal mitosis. Furthermore, the relative chromosomal positions on each individual metaphase plate are most likely carried through anaphase into telophase.  (+info)

Mapping EBNA-1 domains involved in binding to metaphase chromosomes. (8/2035)

The Epstein-Barr virus (EBV) genome can persist in dividing human B cells as multicopy circular episomes. Viral episomes replicate in synchrony with host cell DNA and are maintained at a relatively constant copy number for a long time. Only two viral elements, the replication origin OriP and the EBNA-1 protein, are required for the persistence of viral genomes during latency. EBNA-1 activates OriP during the S phase and may also contribute to the partition and/or retention of viral genomes during mitosis. Indeed, EBNA-1 has been shown to interact with mitotic chromatin. Moreover, viral genomes are noncovalently associated with metaphase chromosomes. This suggests that EBNA-1 may facilitate the anchorage of viral genomes on cellular chromosomes, thus ensuring proper partition and retention. In the present paper, we have investigated the chromosome-binding activity of EBV EBNA-1, herpesvirus papio (HVP) EBNA-1, and various derivatives of EBV EBNA-1, fused to a variant of the green fluorescent protein. The results show that binding to metaphase chromosomes is a common property of EBV and HVP EBNA-1. Further studies indicated that at least three independent domains (CBS-1, -2, and -3) mediate EBNA-1 binding to metaphase chromosomes. In agreement with the anchorage model, two of these domains mapped to a region that has been previously demonstrated to be required for the long-term persistence of OriP-containing plasmids.  (+info)

Preparation Methods of Human Metaphase Chromosomes for their Proteome Analysis.: Chromosomes are supermolecules that contain most of the DNA within a cell and a
TY - JOUR. T1 - Premature chromosome condensation as a sign of oocyte immaturity. AU - Egozcue Cuixart, Jose. AU - Santalo Pedro, Josep. PY - 1991/1/1. Y1 - 1991/1/1. N2 - In this work we report the possibility that oocyte immaturity is associated with premature chromosome condensation (PCC) after in-vitro fertilization (IVF). Using a murine model, we have related PCC and endoreduplicated-like oocytes to oocyte immaturity as a basis for a prognosis in oocyte immaturity problems. The cytogenetic analysis was performed in 511 embryos obtained from immature oocytes that were directly fertilized in vitro and in 1363 embryos obtained from immature oocytes that were matured in vitro with different concentrations of human chorionic gonadotrophin (HCG) added to the culture medium. As a control we used 507 embryos obtained from freshly ovulated oocytes. PCC at the G1-phase-(G1-PCC) was observed only when immature oocytes were immediately fertilized in vitro (45.4%) and PCC at the S-phase (S-PCC) only ...
Cromosoma 3 (es); Humán 3-as kromoszóma (hu); 3-я хромосома человека (ru); cromosom dynol 3 (cy); کروموزوم ۳ (fa); Хромозома 3 (bg); kromosom 3 (da); cromozomul uman 3 (ro); 3號染色體 (zh-hk); mänsklig kromosom 3 (sv); Хромосома 3 (uk); Chromosoma 3 (la); 3号染色体 (zh-cn); 3번 염색체 (ko); homa kromosomo 3 (eo); Трет човечки хромозом (mk); Hromosom 3 (bs); cromosoma 3 (it); ৩ নং ক্রোমোজোম (bn); chromosome 3 humain (fr); Kromosom 3 (čovjek) (hr); Kromozom 3 (tr); 3-րդ քրոմոսոմ (hy); cromossoma 3 (pt); 3番染色体 (ヒト) (ja); human chromosome 3 (en); Hromozom 3 (sh); хромозом 3 (sr); Chromosom 3 (de); Kromosomang 3 (tl); chromozom 3 (cs); 3. kromosoom (et); chromosom 3 (pl); humant kromosom 3 (nn); kromosom 3 (nb); Chromosoom 3 (nl); Cromosoma 3 (ca); 3 hō jiám-sek-thé (nan); Kromosomi 3 (fi); כרומוזום 3 (he); Cromosoma 3 (gl); صبغي 3 (ar); ...
For the very first time, a team of researchers has been able to map and follow the movements of human chromosomes. This study could lead to more answers on how to prevent diseases such as leukemia, Parkinsons, and even infertility.
TY - JOUR. T1 - Evidence that unrejoined DNA double-strand breaks are not predominantly responsible for chromosomal radiosensitivity of AT fibroblasts. AU - Loucas, Bradford. AU - Cornforth, Michael. PY - 2004/11. Y1 - 2004/11. N2 - To examine more fully the nature of chromosomal radiosensitivity in ataxia telangiectasia (AT) cells, we employed 24-color combinatorial painting to visualize 137CS γ-ray-induced chromosome-type aberrations in cells of two AT and one normal primary human fibroblast strains irradiated in log-phase growth. As a measure of misrejoined radiation-induced DSBs, we quantified exchange breakpoints associated with both simple and complex exchanges. As a measure of unrejoined DSBs, we quantified breakpoints from terminal deletions as well as deletions associated with incomplete exchange. For each of these end points, the frequency of damage per unit dose was markedly higher in AT cells compared to normal cells, although the proportion of total breaks that remained unrejoined ...
It is known that about 5-10% of cancer patients show severe clinical side effects during and after radiotherapy due to enhanced sensitivity to ionizing radiation. Identification of those radiosensitive individuals by a reliable in vitro assay before onset of treatment would have a great impact on successful radiotherapy. We compared the radiosensitivity of the chromosomes 2, 11 and 17 in prostate cancer patients with and without severe side effects after radiotherapy and in age-matched healthy donors. Each cohort consisted of at least 10 donors. Peripheral blood lymphocytes were irradiated ex vivo with 0.5, 1 und 2 Gy (137Cs γ rays). We investigated the radiosensitivity of the chromosomes 2, 11 and 17 by scoring of 100 FISH painted metaphases for each dose point and donor group. Statistical analyses were performed by nonparametric tests as Mann-Whitney test and Kruskal-Wallis ANOVA, paired Wilcoxon rank test, χ2 goodness-of-fit test and Spearman rank-order correlation at a significance level ...
The spatial arrangement of some genetic elements relative to chromosome territories and in parallel with the cell nucleus was investigated in human lymphocytes. The structure of the chromosome territories was studied in chromosomes containing regions ( clusters) of highly expressed genes (HSA 9, 17) and those without such clusters ( HSA 8, 13). In chromosomes containing highly expressed regions, the elements pertaining to these regions were found close to the centre of the nucleus on the inner sides of chromosome territories; those pertaining to regions with low expression were localized close to the nuclear membrane on the opposite sides of the territories. In chromosomes with generally low expression ( HSA 8, 13), the elements investigated were found symmetrically distributed over the territories. Based on the investigations of the chromosome structure, the following conclusions are suggested: (1) Chromosome territories have a non-random internal 3D structure with defined average mutual ...
dear bionetters, I am a graduate student working on DNA sequencing, but as a side project I am interested in subjecting metaphase chromosomes to electron microscopy. I understanding how to arrest the cells in metaphase --I am working with a borrowed culture of a human lymphocytes-- but am unclear on how to extract and purify the chromosomes. Basically I am looking for two procedures: 1. how to break open the cells gently, and 2. how to isolate the chromosomes from the remains of the cell. (A few papers mentioned centrifugation, but fewer still provided the exact conditions!) Any advice on procedures or even references would be greatly apreciated. Thanks! David (DHC at BIOCH.OX.AC.UK ...
Ross argues that the chromosomal evidence that humans and the higher apes have a different number of chromosomes is invalid or misunderstood. In the early 1990s, it was discovered that human chromosome two is an end-to-end-fusion of two ape chromosomes. A close examination of chromosome two revealed that, while the other twenty-two chromosomes have one centromere, or central segment, human chromosome two has an extra non-functional centromere. Furthermore, while every chromosome has end segments known as telomeres, human chromosome two has inactive adjacent telomere segments in the middle of the chromosome. It is argued that, sometime in our early past, there was a translocation of two chromosomes to form Chromosome two. Ross argues that such a translocation could not possibly have happened because this would be catastrophic for the organism and would result in death ...
Olecular characterization of MAR, a multiple aberration area on human chromosome segment 12q13q15 implicated in a variety of strong tumors. Genes Chromosomes
A microfluorimetric method has been developed for determination of DNA content in individual human chromosomes. The method is based on a preliminary identification of chromosomes with Hoechst 33258 followed by staining of the chromosomes with Feulgen reaction by using Schiffs reagent type ethidium bromide-SO2 and then by measuring the fluorescence intensity of the chromosomes by using an image analyzer. The method allows determining the DNA content of individual chromosomes with an accuracy up to 4.5 fg. The DNA content of individual human chromosomes and their p-and q-arms, as well as homologous chromosomes, were measured by using the developed method. It has been shown that the DNA content in chromosomes of the normal human karyotype is unstable and can fluctuate in some chromosomes within 35-40 fg.
Humans have 46 chromosomes, whereas chimpanzee, gorilla, and orangutan have 48. This major karyotypic difference was caused by the fusion of two ancestral chromosomes to form human chromosome 2 and subsequent inactivation of one of the two original centromeres (Yunis and Prakash 1982). As a result of this fusion, sequences that once resided near the ends of the ancestral chromosomes are now located in the middle of chromosome 2, near the borders of bands 2q13 and 2q14.1. For brevity, we refer henceforth to the region surrounding the fusion as 2qFus. Two head-to-head arrays of degenerate telomere repeats are found at this site; their head-to-head orientation indicates that chromosome 2 resulted from a telomere to telomere fusion. (Emphasis mine). [4] ...
Idiogram Chromosome Banding - The term refers to the light and dark pattern, seen after staining with a dye, of individual chromosomes identified in metaphase. It is only in meiosis and mitosis during metaphase that chromosomes can be easily identified, during the normal cell life (interphase) the chromosomes are unravelled and distributed within the nucleus in chromosome territories. A band is that part of a chromosome which is clearly distinguishable from nearby regions by appearing darker or brighter with one or more banding techniques ...
TY - JOUR. T1 - A high-resolution map of human chromosome 12. AU - Montgomery, K. T.. AU - Lee, E.. AU - Miller, A.. AU - Lau, S.. AU - Shim, C.. AU - Decker, J.. AU - Chiu, D.. AU - Emerling, S.. AU - Sekhon, M.. AU - Kim, R.. AU - Lenz, J.. AU - Han, J.. AU - Ioshikhes, I.. AU - Renault, B.. AU - Marondel, I.. AU - Yoon, S. J K. AU - Song, K.. AU - Murty, V. V V S. AU - Scherer, S.. AU - Yonescu, R.. AU - Kirsch, I. R.. AU - Ried, T.. AU - Mcpherson, John Douglas. AU - Gibbs, R.. AU - Kucherlapati, R.. PY - 2001/2/15. Y1 - 2001/2/15. N2 - Our sequence-tagged site-content map of chromosome 12 is now integrated with the whole-genome fingerprinting effort. It provides accurate and nearly complete bacterial clone coverage of chromosome 12. We propose that this integrated mapping protocol serves as a model for constructing physical maps for entire genomes.. AB - Our sequence-tagged site-content map of chromosome 12 is now integrated with the whole-genome fingerprinting effort. It provides accurate ...
Read The costimulatory genes Cd80 and Cd86 are linked on mouse chromosome 16 and human chromosome 3, Mammalian Genome on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
University of Washington. The University of Washingtons Department of Laboratory Medicine has now developed a whole blood qPCR for HHV-6 that aids in the diagnosis of ciHHV-6. The group is running this test in parallel with a newly developed rapid and accurate droplet digital PCR (ddPCR) assay for diagnosis of patients with ciHHV-6. Most quantitative PCR assays are not precise enough to give an accurate ratio of HHV-6 DNA copies per cell. The ddPCR can provide a ratio of HHV-6 DNA copies per cell with great precision, and will be the first clinical test in the USA able to determine definitively if a patient has ciHHV-6. Download the requisition form HERE.. Coppe Labs. In addition, three important tests for HHV-6 are available through Coppe Labs, including two assays that are not available commercially at any other location in the US: the mRNA test for assessing active infection and immunohistochemistry analysis for biopsy samples. The company utilizes the reverse transcription polymerase chain ...
Seroussi, E., Kedra, D., Kost-Alimova, M., Sandberg-Nordqvist, A., Fransson, I., Jacobs, J., ... Dumanski, J. (1999). TOM1 Genes Map to Human Chromosome 22q13.1 and Mouse Chromosome 8C1 and Encode Proteins Similar to the Endosomal Proteins HGS and STAM. Genomics, 57, 380 - 388 ...
View Notes - Reproduction and Chromosome Transmission from BIO 325 at University of Texas. To prepare human chromosomes for viewing (Figure 3.2a): Somatic cells are obtained from the blood. The cells
Olecular characterization of MAR, a many aberration area on human chromosome segment 12q13q15 implicated in many strong tumors. Genes Vasopressin site
TY - JOUR. T1 - The DNA sequence of human chromosome 22. AU - Dunham, I.. AU - Shimizu, N.. AU - Roe, B. A.. AU - Chissoe, S.. AU - Dunham, I.. AU - Hunt, A. R.. AU - Collins, J. E.. AU - Bruskiewich, R.. AU - Beare, D. M.. AU - Clamp, M.. AU - Smink, L. J.. AU - Ainscough, R.. AU - Almeida, J. P.. AU - Babbage, A.. AU - Bagguley, C.. AU - Bailey, J.. AU - Barlow, K.. AU - Bates, K. N.. AU - Beasley, O.. AU - Bird, C. P.. AU - Blakey, S.. AU - Bridgeman, A. M.. AU - Buck, D.. AU - Burgess, J.. AU - Burrill, W. D.. AU - Burton, J.. AU - Carder, C.. AU - Carter, N. P.. AU - Chen, Y.. AU - Clark, G.. AU - Clegg, S. M.. AU - Cobley, V.. AU - Cole, C. G.. AU - Collier, R. E.. AU - Connor, R. E.. AU - Conroy, D.. AU - Corby, N.. AU - Coville, G. J.. AU - Cox, A. V.. AU - Davis, J.. AU - Dawson, E.. AU - Dhami, P. D.. AU - Dockree, C.. AU - Dodsworth, S. J.. AU - Durbin, R. M.. AU - Ellington, A.. AU - Evans, K. L.. AU - Fey, J. M.. AU - Fleming, K.. AU - French, L.. AU - Garner, A. A.. AU - Gilbert, ...
Three region-specific libraries for the entire human chromosome 18 were constructed using microdissection and MboI linker-adaptor microcloning techniques. The libraries included 18pter-p11.1...
talk , contribs) (New page: This is a new project for which we have one position open for someone interested in constructing totally programmable human chromosomes.) ...
You can use this work for any purpose, as long as it is not primarily intended for or directed to commercial advantage or monetary compensation. You should also provide attribution to the original work, source and licence.. Creative Commons Attribution Non-Commercial (CC BY-NC 4.0) terms and conditions https://creativecommons.org/licenses/by-nc/4.0 ...
Sort and pair the images of human chromosomes obtained in a scan. Find differences in the scans of the various patients to find out specific things that can cause disease, as well as the gender of the person.
Chapter 14 The Human Genome Section 14 1 Human Heredity (pages ) This section explains what scientists know about human chromosomes, as well as the inheritance of certain human traits and disorders.
We integrated WGS data from over 2600 tumours spanning more than 30 cancer types, says Isidro Cortés-Ciriano, Group Leader at EMBL-EBI and a former postdoctoral researcher at Harvard Medical School.. From this we discovered that chromothripsis events and other types of complex genome rearrangements are pervasive across human cancers, with frequencies greater than 50% of tumours in some cancer types.. Using WGS datasets gave the researchers an enhanced view of chromothripsis events in the cancer genome. Previous studies looking at the role of chromothripsis in cancer and congenital diseases often used low-resolution array-based technologies.. Here the researchers were able to show that chromothripsis events are much more prevalent in cancer than previously estimated. They also characterised the patterns of massive genome alterations across cancer types, and studied the DNA repair mechanisms involved in their generation.. This study is yet another demonstration of the power of large-scale ...
The research presented in this dissertation consists of four papers that revolve around the structure of human chromosomes and their relationship to birth defects.. A new technique is described to produce spiralization of human metaphase chromosomes. The important feature is heat followed by trypsin treatment. By varying conditions, it is possible to produce bands, spirals and intermediate states.. An investigation of human metaphase chromosomes reveals identical lateral bands in sister chromatids when stained with Quinacrine mustard or Giemsa-trypsin. A hybrid of these two methods produces banding patterns which are different in sister chromatids yet may be repeated in homologous chromatids.. A case study is presented in which a 3l-year old white female with a history of ovarian dysfunction and infertility delivered a male infant with trisomy 13. Her cultured leucocytes were mosaic for trisomy X. The natures of trisomy X and trisomy 13 are discussed with particular emphasis on the genetic ...
Chromothripsis is the phenomenon by which up to thousands of clustered chromosomal rearrangements occur in a single event in localised and confined genomic regions in one or a few chromosomes, and is known to be involved in both cancer and congenital diseases. It occurs through one massive genomic rearrangement during a single catastrophic event in the cells history. It is believed that for the cell to be able to withstand such a destructive event, the occurrence of such an event must be the upper limit of what a cell can tolerate and survive. The chromothripsis phenomenon opposes the conventional theory that cancer is the gradual acquisition of genomic rearrangements and somatic mutations over time. The simplest model as to how these rearrangements occur is through the simultaneous fragmentation of distinct chromosomal regions (breakpoints show a non-random distribution) and then subsequent imperfect reassembly by DNA repair pathways or aberrant DNA replication mechanisms. Chromothripsis ...
To study the interaction of E2 with specific regions of the mitotic chromosome in more detail, we developed a method to spread the mitotic chromosomes in situ that was compatible with indirect immunofluorescence for the E2 protein. This method was adapted from that of Smith et al., who used it to localize tankyrase on human telomeres (27). This technique resulted in well-spread mitotic chromosomes and demonstrated that the wild-type E2-TA was localized on individual chromosomes as speckles, whereas E2-TR was excluded from chromosomes. This technique disrupted the perichromosomally associated proteins Ki67 and topoisomerase II but did not affect the chromosomal association of phosphorylated histone H3 (data not shown). This indicates that the E2 protein is tightly bound to mitotic chromosomes. In fact, in other studies from our laboratory we find that E2-TA forms a very stable complex with mitotic chromosomes that is resistant to high salt (M. McPhillips, K. Ozato, and A. A. McBride, submitted ...
In collaboration with The Open University, The Wellcome Trust Centre for Cell Biology and the Wellcome Trust Sanger Institute.. This pack uses a primate genome puzzle to explore differences and similarities between human and chimpanzee chromosomes. The materials can be applied flexibly to themes on heredity, chromosome structure, duplication, deletion, translocation or inversion and even the formation of chromosome-2 by fusion of ancestral ape chromosomes (as featured in the new Scottish Higher qualification). Try hybridising a chimp and human with our puzzle - see what happens!. Chimpanzee & Human Chromosomes Teachers Guide - PDF document (0.8MB). Chimpanzee and Human Chromosomes Links to Scottish Curriculum - PDF document (0.2MB). Chimpanzee & Human Chromosomes Student Activity Sheets - PDF document (0.4MB). This puzzle has been formated for printing on card or paper at around A3. See our Public Engagement with Science review for images of our giant version available in the zoo and at various ...
In collaboration with The Open University, The Wellcome Trust Centre for Cell Biology and the Wellcome Trust Sanger Institute.. This pack uses a primate genome puzzle to explore differences and similarities between human and chimpanzee chromosomes. The materials can be applied flexibly to themes on heredity, chromosome structure, duplication, deletion, translocation or inversion and even the formation of chromosome-2 by fusion of ancestral ape chromosomes (as featured in the new Scottish Higher qualification). Try hybridising a chimp and human with our puzzle - see what happens!. Chimpanzee & Human Chromosomes Teachers Guide - PDF document (0.8MB). Chimpanzee and Human Chromosomes Links to Scottish Curriculum - PDF document (0.2MB). Chimpanzee & Human Chromosomes Student Activity Sheets - PDF document (0.4MB). This puzzle has been formated for printing on card or paper at around A3. See our Public Engagement with Science review for images of our giant version available in the zoo and at various ...
A report is presented on the advantages of the rapid interphase chromosome assay (RICA) and the difficulties that may be met while implementing this method for application in biological dosimetry. The RICA test can be applied on unstimulated human lymphocytes; this is an advantage in comparison with the dicentric chromosomes or micronucleus tests. In the former two tests, stimulated lymphocytes are examined and hence, 48 h more are needed to obtain cells traversing the cell cycle. Due to the use of unstimulated nondividing cells, higher numbers of cells are available for RICA analysis than for dicentric chromosomes or micronuclei tests. Moreover, the method can be applied after exposure to ionizing radiation doses in excess of 5 Gy. Such doses cause a significant cell cycle delay or result in the loss of G2 phase and mitotic cells because of apoptosis. Therefore, the traditional biodosimetry based on the evaluation of the incidence of damage to chromosomes is very difficult to carry out. This is ...
Chromosomes are dark-staining, threadlike structures in the cell nucleus composed of DNA and chromatin that carry genetic information (definition after Nussbaum et al and Mueller and Young). Formalized standard nomenclature for human chromosomes dates from 1960 and, since 1978, has been known as the International System for Human Cytogenetic Nomenclature (ISCN). Material in this section is based on recommendations in ISCN 2005. Earlier reports have also been consulted. Human chromosomes are numbered from largest to smallest from 1 to 22. There are 2 additional chromosomes, X and Y. The numbered chromosomes are known as autosomes, X and Y as the
Chromosomes are dark-staining, threadlike structures in the cell nucleus composed of DNA and chromatin that carry genetic information (definition after Nussbaum et al and Mueller and Young). Formalized standard nomenclature for human chromosomes dates from 1960 and, since 1978, has been known as the International System for Human Cytogenetic Nomenclature (ISCN). Material in this section is based on recommendations in ISCN 2005. Earlier reports have also been consulted. Human chromosomes are numbered from largest to smallest from 1 to 22. There are 2 additional chromosomes, X and Y. The numbered chromosomes are known as autosomes, X and Y as the
Accumulating evidence converges on the possibility that chromosomes interact with each other to regulate transcription in trans. To systematically explore the epigenetic dimension of such interactions, we devised a strategy termed circular chromosome conformation capture (4C). This approach involves …
Humans and great apes differ in chromosome numbers-humans have 46 while apes have 48. The difference is claimed to be due to the end-to-end fusion of two small, ape-like chromosomes in a human-ape ancestor that joined in the distant past and formed human chromosome 2. This idea was first proposed by researchers who noticed that humans and chimps share similar chromosomal staining patterns when observed under a microscope.1 However, humans and chimps also have regions of their chromosomes that do not share common staining patterns.. Supposed proof for the alleged fusion came in 1991, when researchers discovered a fusion-like DNA sequence about 800 bases in length on human chromosome 2.2 However, it was unexpectedly small in size and extremely degenerate. More importantly, this new fusion-like sequence wasnt what the researchers were expecting to find since it contained a signature never seen before. All known fusions in living animals are associated with a sequence called satellite DNA ...
Read Genetic mapping of CHRNA3 and CHRNB4 to pig Chromosome 7 extends the syntenic conservation with human Chromosome 15 and mouse Chromosome 9, Mammalian Genome on DeepDyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips.
Ross argues that the chromosomal evidence that humans and the higher apes have a different number of chromosomes is invalid or misunderstood. In the early 1990s, it was discovered that human chromosome two is an end-to-end-fusion of two ape chromosomes. A close examination of chromosome two revealed that, while the other twenty-two chromosomes have one centromere, or central segment, human chromosome two has an extra non-functional centromere. Furthermore, while every chromosome has end segments known as telomeres, human chromosome two has inactive adjacent telomere segments in the middle of the chromosome. It is argued that, sometime in our early past, there was a translocation of two chromosomes to form Chromosome two. Ross argues that such a translocation could not possibly have happened because this would be catastrophic for the organism and would result in death ...
The authors apply a novel high-resolution in situ hybridization method that preserves chromatin nanostructure and show that chromosome territories intermingle significantly in the nucleus of human cells.
This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010 ...
TY - CHAP. T1 - Centromeric index versus DNA content flow karyotypes of human chromosomes measured by means of slit-scan flow cytometry. AU - Lucas, J. N.. AU - Gray, Joe. PY - 1987. Y1 - 1987. UR - http://www.scopus.com/inward/record.url?scp=0023254655&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0023254655&partnerID=8YFLogxK. M3 - Chapter. C2 - 3595351. AN - SCOPUS:0023254655. VL - 8. SP - 273. EP - 279. BT - Cytometry. ER - ...
The term refers to the light and dark pattern, seen after staining with a dye, of individual chromosomes identified in metaphase. It is only in meiosis and mitosis during metaphase that chromosomes can be easily identified, during the normal cell life (interphase) the chromosomes are unravelled and distributed within the nucleus in chromosome territories. A band is that part of a chromosome which is clearly distinguishable from nearby regions by appearing darker or brighter with one or more banding techniques. Depending on the type of stain used a number of different banding patterns can be seen: ...
New research reveals role for calcium ions in chromosome condensation during mitosis; high-resolution imaging of living cells reveals compact, globular chromosomes in the presence of calcium that became fibrous and expand in its absence….. ...
antibody-antibodies.com is the marketplace for research antibodies. Find the right antibody for your research needs. Human chromosome 7: DNA sequence and biology.
Multicolor fluorescence in-situ hybridization (M-FISH) techniques provide color karyotyping that allows simultaneous analysis of numerical and structural abnormalities of whole human chromosomes. Chromosomes are stained ...
Canine chromosomes contains more mathematical germinal cell possibilities than the human chromosome! Amazing! Genetics depend on genes that contain DNA, strung into a chromosome that...
Merriman TR., Cordell HJ., Eaves IA., Danoy PA., Coraddu F., Barber R., Cucca F., Broadley S., Sawcer S., Compston A., Wordsworth P., Shatford J., Laval S., Jirholt J., Holmdahl R., Theofilopoulos AN., Kono DH., Tuomilehto J., Tuomilehto-Wolf E., Buzzetti R., Marrosu MG., Undlien DE., Ronningen KS., Ionesco-Tirgoviste C., Shield JP., Pociot F., Nerup J., Jacob CO., Polychronakos C., Bain SC., Todd JA ...
We additional showed the mTOR pathway to be essential in regulating OXPHOS in breast cancer cells and observed that manipu lation Maraviroc CCR5 阻害剤 of express
Replication times for all important chromosome bands, of both types R and Q (277 structures) are analysed. - The R-bands form a group of structures whose DNA replicates during the early S-phase, while
M-FISH images are difficult to interpret because the emis-sion spectra of fluorochrome marked DNA probes over-lap with each other and with the tissues intrinsic auto-fluorescence.
One of the most popularized molecular arguments for human-primate evolution is the hypothetical prehistoric head-to-head fusion of two primate chromosomes (corresponding to 2A and 2B in chimpanzee) to form human chromosome number 2. 1,2 Popular reviews on this subject often include a simplified drawing depicting how the putative fusion of two small acrocentric5 ape-like precursor…
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You are examining three different genes, a, b, and c. They all reside on the same chromosome and you want to know the order of the genes along the chromosome. You determine that genes a and b are 10 cM apart, b and c are 2 cM apart and that a and c are 8 cM apart. What is the order of these genes ...
Since canine chromosome 13 is similar to human chromosome 8q, research could provide insight to treatment for prostate cancer ... Human Chromosomes. New York: Springer, 2001. Schmid, M., and Indrajit Nanda. Chromosomes Today, Volume 14. Dordrecht: Kluwer ... 2000). "Reciprocal chromosome painting illuminates the history of genome evolution of the domestic cat, dog and human". ... Klinefelter syndrome is an example of human polysomy X with the karyotype 47, XXY. X chromosome polysomies can be inherited ...
zinc finger, also known as ZDHHC2, is a human gene. zinc finger, DHHC-type containing 2 GRCh38: Ensembl release 89: ... Genes Chromosomes Cancer. 29 (1): 9-15. doi:10.1002/1098-2264(2000)9999:9999<::AID-GCC1001>3.0.CO;2-#. PMID 10918388. Ota T, ... 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2000). "Isolation of a novel gene on 8p21.3-22 whose expression is reduced significantly in human colorectal cancers with liver ...
Human BCAS3 genome location and BCAS3 gene details page in the UCSC Genome Browser. Maruyama K, Sugano S (1994). "Oligo-capping ... Genes Chromosomes Cancer. 35 (4): 311-7. doi:10.1002/gcc.10121. PMID 12378525. Gururaj AE, Singh RR, Rayala SK, Holm C, den ... Breast carcinoma amplified sequence 3, also known as BCAS3, is a protein which in humans is encoded by the BCAS3 gene. BCAS3 is ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369-74. doi:10.1038/nature02465. PMC 2734081 . ... Disabled homolog 2-interacting protein is a protein that in humans is encoded by the DAB2IP gene. DAB2IP is a Ras (MIM 190020) ... Chen H, Tu SW, Hsieh JT (2005). "Down-regulation of human DAB2IP gene expression mediated by polycomb Ezh2 complex and histone ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
"DNA polymerase alpha inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes". Human ... Sutherland, GR; Baker, E; Seshadri, RS (Jul 1980). "Heritable fragile sites on human chromosomes. V. A new class of fragile ... Debacker, K; Kooy, RF (Oct 15, 2007). "Fragile sites and human disease". Human Molecular Genetics. 16 Spec No. 2: R150-8. doi: ... Fragile Sites on Human Chromosomes. New York and Oxford: Oxford University Press, 280 pages (1985). Schwartz, M.; Zlotorynski, ...
MAD to human chromosome 2 and mouse chromosome 6, and MXI1 to human chromosome 10 and mouse chromosome 19". Oncogene. 9 (2): ... "Localization of the human Mxi1 transcription factor gene (MXI1) to chromosome 10q24-q25". Genomics. 21 (3): 669-72. doi:10.1006 ... MAX-interacting protein 1 is a protein that in humans is encoded by the MXI1 gene. Expression of the c-myc gene, which produces ... MXI1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) FactorBook Mxi1 This article ...
ELKS/RAB6-interacting/CAST family member 1 is a protein that in humans is encoded by the ERC1 gene. The name ELKS is derived ... Genes Chromosomes Cancer. 35 (1): 30-7. doi:10.1002/gcc.10095. PMID 12203787. Wang Y, Liu X, Biederer T, Südhof TC (2002). "A ... 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 ...
DDIT3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ... Genes Chromosomes Cancer. 5 (4): 278-85. doi:10.1002/gcc.2870050403. PMID 1283316. Park JS, Luethy JD, Wang MG, et al. (1992 ... Crozat A, Aman P, Mandahl N, Ron D (1993). "Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma". Nature ... "Human PubMed Reference:". "Mouse PubMed Reference:". Papathanasiou MA, Kerr NC, Robbins JH, McBride OW, Alamo I Jr, Barrett SF ...
Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. ... In 1959, she and John Strong were the first to describe a chromosomal abnormality in humans, the additional X chromosome (the ... ISBN 1-4051-9087-6. The addition of a Y chromosome to a normal male chromosome constitution does not produce a discernible ... "Chromosome studies on men in a maximum security hospital". Annals of Human Genetics. 31 (4): 339-58. doi:10.1111/j.1469- ...
The egfl7 gene is located on chromosomes 9 and 2 in human and mouse, respectively, and is structured in 11 exons and introns, ... "Deregulated expression of miR-106a predicts survival in human colon cancer patients". Genes Chromosomes Cancer. 47 (9): 794-802 ... EGF-like domain-containing protein 7 is a protein that in humans is encoded by the EGFL7 gene. Intron 7 of EGFL7 hosts the miR- ... In vitro, the Egfl7 protein inhibits human aortic smooth muscle cells migration stimulated by PDGF-BB but has no effects on ...
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 ... These mutations involve chromosome translocations which fuse the ETV6 on chromosome 12's the short (i.e. "p") arm ("q" stands ... The human ETV6 protein is a member of the ETS transcription factor family; however, it more often acts to inhibit than ... ETV6 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) Drosophila anterior open - The ...
... and functional analysis of a novel human cDNA (BNIP3L) encoding a protein homologous to human NIP3". Genes Chromosomes Cancer. ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... Human BNIP3L genome location and BNIP3L gene details page in the UCSC Genome Browser. Chen G, Cizeau J, Vande Velde C, Park JH ... BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like is a protein that in humans is encoded by the BNIP3L gene. This ...
... end of the MCF2 oncogene to human chromosome 15q15----q23". Cytogenetics and Cell Genetics. 60 (2): 114-6. doi:10.1159/ ... "Human ros1 and mas1 oncogenes located in regions of chromosome 6 associated with tumor-specific rearrangements". Oncogene ... Matsushime H, Wang LH, Shibuya M (August 1986). "Human c-ros-1 gene homologous to the v-ros sequence of UR2 sarcoma virus ... Matsushime H, Wang LH, Shibuya M (August 1986). "Human c-ros-1 gene homologous to the v-ros sequence of UR2 sarcoma virus ...
"Molecular mechanisms underlying human synovial sarcoma development". Genes, Chromosomes & Cancer. 30 (1): 1-14. doi:10.1002/ ... Protein SSX5 is a protein that in humans is encoded by the SSX5 gene. The product of this gene belongs to the family of highly ... GRCh38: Ensembl release 89: ENSG00000165583 - Ensembl, May 2017 "Human PubMed Reference:". "Entrez Gene: SSX5 synovial sarcoma ... Chromosomes & Cancer. 34 (3): 285-98. doi:10.1002/gcc.10073. PMID 12007189. Güre AO, Wei IJ, Old LJ, Chen YT (October 2002). " ...
2003). "Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse". Genes Chromosomes ... RING finger protein 135 is a protein that in humans is encoded by the RNF135 gene. The protein encoded by this gene contains a ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40-5. doi:10.1038/ ...
2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325-37. doi:10.1038/nature03440. PMC 2665286 . PMID ... "Molecular mechanisms underlying human synovial sarcoma development". Genes Chromosomes Cancer. 30 (1): 1-14. doi:10.1002/1098- ... Protein SSX4 is a protein that in humans is encoded by the SSX4 gene. The product of this gene belongs to the family of highly ... This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on ...
In humans it is located on chromosome 13q14. The DLEU2 gene was originally identified as a potential tumour suppressor gene and ... "DLEU2 encodes an antisense RNA for the putative bicistronic RFP2/LEU5 gene in humans and mouse". Genes, Chromosomes & Cancer. ... "Comparative sequence analysis of a region on human chromosome 13q14, frequently deleted in B-cell chronic lymphocytic leukemia ... Deleted in lymphocytic leukemia 1 (non-protein coding) is a long non-coding RNA that in humans is encoded by the DLEU2 gene. ...
The Human Protein Atlas. Retrieved 28 February 2014. Thompson DA, Weigel RJ (October 1998). "hAG-2, the human homologue of the ... Agr2 is located on chromosome 7p21, a region that has frequent genetic alterations. It was first identified in estrogen ... Galligan JJ, Petersen DR (July 2012). "The human protein disulfide isomerase gene family". Human Genomics. 6 (1). doi:10.1186/ ... Human AGR2 genome location and AGR2 gene details page in the UCSC Genome Browser. Zhang JS, Gong A, Cheville JC, Smith DI, ...
2004). "DLEU2 encodes an antisense RNA for the putative bicistronic RFP2/LEU5 gene in humans and mouse". Genes Chromosomes ... 2003). "A new human gene KCNRG encoding potassium channel regulating protein is a cancer suppressor gene candidate located in ... Potassium channel regulator, also known as KCNRG, is a protein which in humans is encoded by theKCNRG gene. KCNRG is a soluble ... 2006). "Human RFP2 gene promoter: Unique structure and unusual strength". Biochem. Biophys. Res. Commun. 342 (3): 859-66. doi: ...
Regulator of G-protein signaling 12 is a protein that in humans is encoded by the RGS12 gene. This gene encodes a member of the ... Genes Chromosomes Cancer. 36 (1): 48-56. doi:10.1002/gcc.10141. PMID 12461749. Strausberg RL, Feingold EA, Grouse LH, et al. ( ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2002). "Evolution of the regulators of G-protein signaling multigene family in mouse and human". Genomics. 79 (2): 177-85. doi: ...
2003). "The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes". Nature. 423 (6942): 825- ... 1988). "The sex-determining region of the human Y chromosome encodes a finger protein". Cell. 51 (6): 1091-104. doi:10.1016/ ... Tricoli JV, Bracken RB (1993). "ZFY gene expression and retention in human prostate adenocarcinoma". Genes Chromosomes Cancer. ... 1990). "Comparison of human ZFY and ZFX transcripts". Proc. Natl. Acad. Sci. U.S.A. 87 (5): 1681-5. doi:10.1073/pnas.87.5.1681 ...
"Human PubMed Reference:". "Mouse PubMed Reference:". HUGO Gene Nomenclature Committee. "TTC39A". Gene Symbol Report. Human ... The gene for TTC39A is located on the first chromosome at 1p32.3. The genomic DNA is 57,859 bases long, consists of 19 exons ... The gene for KIAA0452 is also located on the first chromosome at 1p32.3. The genomic DNA is 34,096 bases long, consists of 11 ... TTC39A is a highly expressed protein in the human body. The highest levels of expression are located in mammary glands and ...
Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. ... 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 ... ISBN 1-4051-9087-6. The addition of a Y chromosome to a normal male chromosome constitution does not produce a discernible ...
"Smallest region of overlapping deletion in 1p36 in human neuroblastoma: a 1 Mbp cosmid and PAC contig". Genes, Chromosomes & ... In humans it is encoded by the ZBTB48 gene. Loss of ZBTB48 has been shown to lead to telomere elongation both in cells with ... ZBTB48 localizes to chromosome 1p36, a region that is frequently rearranged (leiomyoma & leukaemia) or deleted (neuroblastoma, ... Maris JM, Jensen J, Sulman EP, Beltinger CP, Allen C, Biegel JA, Brodeur GM, White PS (October 1997). "Human Krüppel-related 3 ...
In humans, certain alleles of this gene have been statistically associated with an increased risk of developing late-onset ... Genes Chromosomes Cancer. 36 (1): 26-36. doi:10.1002/gcc.10136. PMID 12461747. Strausberg RL, Feingold EA, Grouse LH, et al. ( ... Phosphatidylinositol binding clathrin assembly protein, also known as PICALM, is a protein which in humans is encoded by the ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
"Frequent DNA hypomethylation of human juxtacentromeric BAGE loci in cancer". Genes, Chromosomes & Cancer. 43 (1): 11-24. doi: ... MAPK/MAK/MRK overlapping kinase is an enzyme that in humans is encoded by the RAGE gene. GRCh38: Ensembl release 89: ... "A new gene coding for an antigen recognized by autologous cytolytic T lymphocytes on a human renal carcinoma". Immunogenetics. ... "Requirement of HMGB1 and RAGE for the maturation of human plasmacytoid dendritic cells". European Journal of Immunology. 35 (7 ...
2000). "Human acid ceramidase is overexpressed but not mutated in prostate cancer". Genes Chromosomes Cancer. 29 (2): 137-46. ... Human ASAH1 genome location and ASAH1 gene details page in the UCSC Genome Browser. Perry DK, Hannun YA (1999). "The role of ... Li CM, Park JH, He X, Levy B, Chen F, Arai K, Adler DA, Disteche CM, Koch J, Sandhoff K, Schuchman EH (Feb 2000). "The human ... 2001). "Human acid ceramidase: processing, glycosylation, and lysosomal targeting". J. Biol. Chem. 276 (38): 35352-60. doi: ...
"Human Chromosomal Abnormalities: Sex Chromosome Abnormalities". anthro.palomar.edu. Archived from the original on 2016-03-02. ... Turner Syndrome is a result from one of female sex chromosome abnormalities. Females inherit only one X chromosome (genotype is ... XYY Syndrome is also a syndrome resulting from a male sex chromosome abnormality. Males inherit an extra Y chromosome (genotype ... The purely biological level of classifications includes chromosomes, which categorize female sex chromosome abnormalities and ...
Humans Have Spread Globally, and Evolved Locally - The New York Times, 26 June 2007 Kam R, Chen J, Blümcke I, et al. (2004). " ... 2008). "Disabled-1 is a large common fragile site gene, inactivated in multiple cancers". Genes Chromosomes Cancer. 47 (2): 165 ... In humans, Reelin mutations are associated with brain malformations and mental retardation. In mice, Dab1 mutation results in ... UMich Orientation of Proteins in Membranes protein/pdbid-1nu2 DAB1 protein, human at the US National Library of Medicine ...
Human BTG4 genome location and BTG4 gene details page in the UCSC Genome Browser. Auer RL, Starczynski J, McElwaine S, et al. ( ... Genes Chromosomes Cancer. 43 (1): 1-10. doi:10.1002/gcc.20159. PMID 15672409. Strausberg RL, Feingold EA, Grouse LH, et al. ( ... Protein BTG4 also known as BTG family member 4 is a protein that in humans is encoded by the BTG4 gene (B-cell translocation ... 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
Human chromosome 2 resulted from a fusion of two ancestral chromosomes that remained separate in the chimpanzee lineage. " The ... Mitochondrial DNA and human history. The Human Genome. 2003-10-09 [2006-09-19]. (原始内容存档于2015-09-07) (英语).. ... 大多數人類基因擁有許多的外顯子,且人類的內含子比位在其兩端的外顯子更長。這些基因參差不齊地分佈在染色體中,每一個染色體皆含
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
Lamin A/C gene and a related sequence map to human chromosomes 1q12.1-q23 and 10. Somat. Cell Mol. Genet. March 1993, 19 (2): ... Human laminopathies: nuclei gone genetically awry. Nat. Rev. Genet. December 2006, 7 (12): 940-52. PMID 17139325. doi:10.1038/ ... Life at the edge: the nuclear envelope and human disease. Nat. Rev. Mol. Cell Biol. 2002, 3 (8): 575-85. PMID 12154369. doi: ... The strange case of the "lumper" lamin A/C gene and human premature ageing. Trends in molecular medicine. 2004, 9 (9): 370-5. ...
A QTL for osteoporosis on the human chromosome 20. QTL mapping[edit]. ... "Human Genetics for 1st Year Students: Multifactorial Inheritance". Retrieved 6 January 2007.. ... An example of a polygenic trait is human skin color variation. Several genes factor into determining a person's natural skin ... However, due to some advantages, now plant geneticists are attempting to incorporate some of the methods pioneered in human ...
In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of Iraq - - ... Human rights *in pre-Saddam Iraq. *in Saddam Hussein's Iraq. *in post-invasion Iraq *in ISIL-controlled territory ...
... and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11". ... 1989). "Expression of biologically active human follitropin in Chinese hamster ovary cells". J. Biol. Chem. 264 (9): 4769-75. ... 1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nat. Genet. 22 (3): 231-8. PMID ... Fox KM، Dias JA، Van Roey P (2001). "Three-dimensional structure of human follicle-stimulating hormone". Mol. Endocrinol. 15 (3 ...
The institute is also the first develop a test to detect chromosome translocations in human embryos to increase the success ... Human cloning is a long way off, but bioengineered kids are already here, Washington Monthly, March 2002 - accessed July 11, ... issues in this field including a possibility that a child may have genes from more than two adults and the usage of human ...
For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... As a significant human pathogenic bacterium S. pneumoniae was recognized as a major cause of pneumonia in the late 19th century ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ... "A fatal form of septicaemia in the rabbit produced by the subcutaneous injection of human saliva. An experimental research". ...
MN1 is a gene found on human chromosome 22, with gene map locus 22q12.3-qter.[5] Its official full name is meningioma ( ... 2008). "Toward a confocal subcellular atlas of the human proteome". Mol. Cell. Proteomics. 7 (3): 499-508. doi:10.1074/mcp. ... a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma". Oncogene. 10 (8): 1521-8. PMID ... "MN1, a novel player in human AML". Blood Cells Mol. Dis. 39 (3): 336-9. doi:10.1016/j.bcmd.2007.06.009. PMC 2387274. PMID ...
O'Donovan (1999). „Physical mapping of the CXC chemokine locus on human chromosome 4.". Cytogenet. Cell Genet. 84: 39-42. PMID ... Angiolillo (1995). „Human interferon-inducible protein 10 is a potent inhibitor of angiogenesis in vivo". J. Exp. Med. 182: 155 ...
McLean PJ, Farb DH, Russek SJ (Aug 1995). "Mapping of the alpha 4 subunit gene (GABRA4) to human chromosome 4 defines an alpha ... Gamma-aminobutyric acid receptor subunit alpha-4 is a protein that in humans is encoded by the GABRA4 gene.[5][6] ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... 2000). "Human genome search in celiac disease using gliadin cDNA as probe". J. Mol. Biol. 300 (5): 1155-1167. doi:10.1006/jmbi. ...
It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA).[21] ... creating daughter cpDNA chromosomes. In addition to the early ... "Circular chloroplast chromosomes: the grand illusion". The Plant Cell. 16 (7): 1661-6. doi:10.1105/tpc.160771. PMC 514151 ... "Circular chloroplast chromosomes: the grand illusion". The Plant Cell. 16 (7): 1661-6. doi:10.1105/tpc.160771. PMC 514151 ...
They argue that this is an issue with respect to the human right to water and sanitation and also from the perspective of the ... chromosomes and anatomy' at birth.[32] ... "Public Hygiene Lets Us Stay Human (PHLUSH). Retrieved June 22, ... The Human Rights Campaign, an LGBTQ advocacy group, recommends that employers grant access, and use, to public toilets ... Human Rights Campaign. "Restroom Access for Transgender Employees." Retrieved from "Restroom Access for Transgender Employees" ...
One research team found a correlation in male fruit flies and discussed it as a possibility in other species, even humans.[35] ... chromosome localization, and functional expression of cDNA clones". Biochemistry. 30 (44): 10640-6. doi:10.1021/bi00108a006. ... Palma C, Maggi CA (2000). "The role of tachykinins via NK1 receptors in progression of human gliomas". Life Sciences. 67 (9): ... Gerard NP, Garraway LA, Eddy RL, Shows TB, Iijima H, Paquet JL, Gerard C (Nov 1991). "Human substance P receptor (NK-1): ...
This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it. *v ... Apolipoprotein C-IV, also known as apolipoprotein C4, is a protein that in humans is encoded by the APOC4 gene.[5][6] ... Human APOC4 genome location and APOC4 gene details page in the UCSC Genome Browser. ... 2002). "Regulated expression of the apolipoprotein E/C-I/C-IV/C-II gene cluster in murine and human macrophages. A critical ...
When a human is conceived, it gets 23 chromosomes from its mother and 23 from its father. If it does not get the right number ... For example, Down syndrome happens when there are three copies of chromosome #21. (Usually people have 2 of every chromosome.) ... This developing human is called an embryo for the first eight weeks of the pregnancy, and fetus for the rest of the pregnancy. ... Humans can also chose to end the pregnancy before birth takes place. This is called an induced abortion. Often, the term ...
... in males with normal chromosomes because they have only one X chromosome and few of the same genes are on the Y chromosome. ... Human Molecular Genetics, 2nd edition by Tom Strachan and Andrew P. Read Chapter 17. (1999). ... A chromosome in a diploid organism is hemizygous when only one copy is present.[2] The cell or organism is called a hemizygote ... Most eukaryotes have two matching sets of chromosomes; that is, they are diploid. Diploid organisms have the same loci on each ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... PAX8+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) ...
"Is the human race evolving or devolving?". Scientific American. From a biological perspective, there is no such thing as ...
During mammalian development, the gonads are at first capable of becoming either ovaries or testes.[5] In humans, starting at ... In males, certain Y chromosome genes, particularly SRY, control development of the male phenotype, including conversion of the ... Before the production of the pituitary hormone luteinizing hormone (LH) by the embryo starting at about weeks 11-12, human ... Häggström, Mikael; Richfield, David (2014). "Diagram of the pathways of human steroidogenesis". WikiJournal of Medicine. 1 (1 ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ... December 1993). "Human leukocyte antigen A1-B8-DR3-DQ2-DPB1*0401 extended haplotype in autoimmune hepatitis". Hepatology. 18 (6 ...
These tumors show a high frequency of co-deletions of the p and q arms of chromosome 1 and chromosome 19 respectively (1p19q co ... Human brains are surrounded by a system of connective tissue membranes called meninges that separate the brain from the skull. ... The brains of humans and other vertebrates are composed of very soft tissue and have a gelatin-like texture. Living brain ... "IARC classifies radiofrequency electromagnetic fields as possibly carcinogenic to humans" (PDF). World Health Organization ...
In humans, PR is encoded by a single PGR gene residing on chromosome 11q22,[5][6][7] it has two isoforms, PR-A and PR-B, that ... "The progesterone receptor gene maps to human chromosome band 11q13, the site of the mammary oncogene int-2". Proceedings of the ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... The single-copy human (hPR) gene uses separate promoters and translational start sites to produce two isoforms, hPR-A and -B, ...
It is encoded in humans by the SERPINA1 gene. A protease inhibitor, it is also known as alpha1-proteinase inhibitor (A1PI) or ... Another name used is alpha-1 proteinase inhibitor (α1-PI). The gene is located on the long arm of the fourteenth chromosome ( ... The US FDA has approved the use of four alpha-1 antitrypsin products derived from a human plasma: Prolastin, Zemaira, Glassia, ... All three products showed minor differences compared to the normal human plasma A1AT, and are introduced during the specific ...
"American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
Deletion in the 22q11.2 region of chromosome 22 has been associated with schizophrenia and autism.[22][23] Schizophrenia and ... An example of pleiotropy is phenylketonuria, an inherited disorder that affects the level of phenylalanine in the human body. ... The disease is caused by a defect in a single gene on chromosome 12 that codes for enzyme phenylalanine hydroxylase , that ... Pleiotropy not only affects humans, but also animals, such as chickens and laboratory house mice, where the mice have the "mini ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ... Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or ...
The amelogenin gene has been most widely studied in humans, where it is a single copy gene, located on the X and Y chromosomes ... Differences between the X chromosome and Y chromosome versions of the amelogenin gene (AMELX and AMELY respectively) enable it ... The amelogenin gene's location on sex chromosomes has implications for variability both between the X chromosome form (AMELX) ... Nakahori Y, Takenaka O, Nakagome Y (1991). "A human X-Y homologous region encodes "amelogenin"". Genomics. 9 (2): 264-9. doi: ...
"The DNA sequence of human chromosome 22". Nature 402 (402). ISSN 0028-0836, págs. 489-495.. ... Human Genome Project (2003). "International Consortium Completes Human Genome Project". Human Genome Project Information (en ... U. S. Human Genome Project (2008). Office of Science - U. S. Dpt. of Energy, ed. "Major Events in the U.S. Human Genome Project ... National Human Genome Research Istitute - NHGRI (NIH) (2004). "Scientists Compare Rat Genome With Human, Mouse" (en inglés). ...
... map to mouse chromosome 5 within a region of conserved synteny with human chromosome 4p16.3". Genomics. 22 (1): 198-201. doi: ... 1997). "Transcript map of the human chromosome 4p16.3 consisting of 627 cDNA clones derived from 1 Mb of the Huntington's ... Alpha-adducin is a protein that in humans is encoded by the ADD1 gene. Adducins are a family of cytoskeleton proteins encoded ... 1998). "Human alpha-adducin gene, blood pressure, and sodium metabolism". Hypertension. 32 (1): 138-43. doi:10.1161/01.HYP.32.1 ...
The explosion of information on human genetic diseases has meant that there is a greater need than ever for students, ... This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. ... This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes. The ... "Each word "tells" in this concise gem of a human cytogenetics text...Superb organization makes this an excellent text...for any ...
10 SN: Real benefits of virtual therapy, monkey malaria in humans, round electrons disappoint, mouse pups with two dads, bats ...
3. Encourage students to invert a chimp chromosome and place it next to the corresponding human chromosome, alining their ... Human Evolution Patterns. SEE "Chromosome Connections: Compelling Clues to Common Ancestry". Article by Larry Flammer published ... CHROMOSOME FUSION. This is a logical extension of any chromosome comparison lab. Students test the hypothesis that our ... and less on the details of chromosome analysis, and also involves students in doing a chromosome by chromosome matching by ...
... chimp chromosome 2 and an extra chromosome that does not match any other human chromosome). Second, a chromosome normally has ... While great apes all have 48 chromosomes (24 pairs), humans have only 46 (23 pairs). If humans and apes shared a common ... First, the banding (or dye pattern) of human chromosome 2 closely matches that of two separate chromosomes found in apes ( ... it explains that humans have one fewer chromosome pair in their cells than apes, due to a mutation found in chromosome number 2 ...
Human chromosome 11 DNA sequence and analysis including novel gene identification. Free access. Todd D. Taylor et al. ... Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Christine Gicquel et al. ...
Human Genome Collection. Chromosome x. The X chromosome both unites and divides the sexes: everyone has it, but whereas men ... A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Brown, C.J. ... The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X Bentley, D. R. et al. ... The DNA sequence of the human X chromosome. Ross, M.T. et al. ... Characterization of the human factor VIII gene. Gitschier, J. ...
... human chromosome (en) 10. kromozom (tr); Chromosome 10 (human), Chromosome 10 (tl); chr10, kromosom 10 (nn); chr10 (nb); ... Media in category "Human chromosome 10". The following 30 files are in this category, out of 30 total. ... Human chromosome 10 with ASD genes from IJMS-16-06464.png 606 × 1,510; 183 KB. ... Human chromosome 10 from Gene Gateway - with label.png 1,439 × 1,654; 102 KB. ...
Media in category "Human chromosome 3". The following 32 files are in this category, out of 32 total. ... Human chromosome 03 with ASD genes from IJMS-16-06464.png 949 × 2,233; 498 KB. ... Human chromosome 03 from Gene Gateway - with label.png 1,302 × 1,919; 350 KB. ... 24-Color 3D FISH Representation and Classification of Chromosomes in a Human G0 Fibroblast Nucleus 10.1371 journal.pbio.0030157 ...
Researchers have genetically engineered cows to produce human antibodies against the deadly hantavirus and possibly other ... Creating human antibodies in an animal model is no small feat. Scientists combined parts of human chromosome 14 and human ... Cows with human chromosomes enlisted to fight hantavirus. By David Shultz. Nov. 26, 2014 , 2:00 PM. ... The work is preliminary and needs to be tested in people, but the team calls it a "proof-of-concept" that human antibodies can ...
A study led by Indiana University is the first to reveal key similarities between chromosomes in humans and archaea. The work ... Key similarities discovered between human and archaea chromosomes Discovery from Indiana University could advance use of single ... The similar clustering of DNA in humans and archaeal chromosomes is significant because certain genes activate or deactivate ... "It looked just like what has been seen with human DNA.". The study is also the first to describe the protein used to assemble ...
... and human chromosome 2 represents a fusion of two acrocentric chromosomes present in chimpanzees (chromosomes 12 and 13) and ... Remarkably, the KA/KS ratios are also 1.41 times greater for rearranged chromosomes than for colinear chromosomes in humans ( ... Of 89 chromosomes with KA/KS ratios ≤1, 39 (43.8%) are on rearranged chromosomes, and 50 are on colinear chromosomes. The ... Table 6 shows that genes in rearranged chromosomes 4, 5, and 9, as well as in colinear chromosome 22, have human expression ...
structural maintenance of chromosomes protein 4. Names. SMC protein 4. SMC4 structural maintenance of chromosomes 4-like 1. ... SMC4 structural maintenance of chromosomes 4 [ Homo sapiens (human) ] Gene ID: 10051, updated on 10-May-2020 ... Title: Structural Basis for Dimer Formation of Human Condensin Structural Maintenance of Chromosome Proteins and Its ... Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- ...
A jewellery collection created from the shape of human chromosomes. 3D prints made from microscopy data. ... Louise Hughes is raising funds for Human Chromosome Jewellery Collection on Kickstarter! ... One of these pairs forms the chromosomes that determine our sex, the X and Y chromosomes. Two x chromosomes, XX, gives rise to ... Karyotype 1 has the chromosomes arranged with two xx chromosomes and one y chromosome in the middle, followed by all the other ...
... evolutionists claim that two chimp chromosomes fused to become one, but the power of the evolutionary paradigm trumps other ... "Because the fused chromosome is unique to humans and is fixed, the fusion must have occurred after the human-chimpanzee split, ... Humans have 23 chromosome pairs, as we inherit 23 chromosomes from our father and 23 from our mother. Chimps inherit 24 ... The whole idea that two chromosomes from a primate ancestor fused together to form the single human chromosome; falls down when ...
Researchers describe a new way to form an essential part of the artificial chromosome, called the centromere, by bypassing the ... Human artificial chromosome (HAC, green) with two sister centromeres (red), similar to that of the natural host chromosomes ( ... Without it, whole chromosomes can be lost during cell division. For cell replication to occur, human centromeres are not simply ... Penn biochemists streamline construction method for human artificial chromosomes Bypassing the Need for DNA from the centromere ...
Study of Chromosomes in Human Leukaemia by a Direct Method Br Med J 1961; 2 :1052 ... Study of Chromosomes in Human Leukaemia by a Direct Method. Br Med J 1961; 2 doi: https://doi.org/10.1136/bmj.2.5259.1052 ( ...
... resulting in a total of 46 chromosomes. These chromosomes determine individual genetics traits as well as a persons gender.... ... Humans typically have 23 pairs of chromosomes, resulting in a total of 46 chromosomes. These chromosomes determine individual ... How many chromosomes are shown in a normal human karyotype?. A: A normal human karyotype typically contains 23 pairs of ... Humans born with both an X and Y chromosome are male, and those born with two X chromosomes are female. An imbalance in the ...
A chromatin remodelling complex that loads cohesin onto human chromosomes Nature. 2002 Aug 29;418(6901):994-8. doi: 10.1038/ ... Here, we report the isolation of a human ISWI (SNF2h)-containing chromatin remodelling complex that encompasses components of ... also requires access to the nucleosomal DNA to perform its function in chromosome segregation. The machineries that provide ... binding sites by chromatin immunoprecipitation experiments reveals the specific association of these three proteins with human ...
Chromosome 21 is the smallest human autosome. An extra copy of chromosome 21 causes Down syndrome, the most frequent genetic ... The DNA sequence of human chromosome 21.. Hattori M1, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, ... Here we report the sequence and gene catalogue of the long arm of chromosome 21. We have sequenced 33,546,361 base pairs (bp) ... Analysis of the chromosome revealed 127 known genes, 98 predicted genes and 59 pseudogenes. ...
So, the human Y chromosome looks just as different from a chimp as the other human chromosomes do from a chicken. And to ... the human and chimp Y chromosomes were constructed entirely differently. On the human Y chromosome, there were found four major ... male-specific Y chromosome].1 As far as looking at specific genes, the chimp and human Y chromosomes had a dramatic difference ... New Chromosome Research Undermines Human-Chimp Similarity Claims. Institution for Creation Research ^ , Apr 1, 2010 , Jeffrey ...
Human Chromosome 11 Blast Server. Find out more about wu-blast Retrieve result for BLAST job id:. ... Unfinished human genomic sequence. Unfinished sequence contigs over a 1000 bases.. CpG island sequences. Sequence data from the ... Finished human genomic sequence. Sequence submitted to the EMBL database and all unsubmitted finished sequence.. ... This Blast server searches our DNA database containing all human sequence data available from the Sanger Institute. ...
Localization of Sister Chromatid Exchanges in Human Chromosomes Message Subject. (Your Name) has forwarded a page to you from ... The frequency of sister chromatid exchanges among chromosomes correlates with chromosome length. Exchanges appear to occur ... of 33258 Hoechst fluorescence allows microfluorometric analysis of sister chromatid exchanges in human metaphase chromosomes. ... 1Department of Pediatrics and Center for Human Genetics, Harvard Medical School, Clinical Genetics Division, Childrens ...
Fact sheet that explains what a chromosome is and what it does; centromeres and telomeres; the number of chromosomes humans ... How many chromosomes do humans have?. Humans have 23 pairs of chromosomes, for a total of 46 chromosomes. ... How are chromosomes inherited?. In humans and most other complex organisms, one copy of each chromosome is inherited from the ... Chromosomes vary in number and shape among living things. Most bacteria have one or two circular chromosomes. Humans, along ...
Scientists have completed the DNA sequence of a chimpanzee chromosome and lined it up side by side the DNA sequence of its ... RIKEN had sequenced human chromosome 21 in 2000 as part of the Human Genome Project. ... More than 98 percent of the DNA on chimp chromosome 22 is present on human chromosome 21. ... Scientists in Japan have completed the DNA sequence of a chimpanzee chromosome and lined it up alongside its human counterpart ...
This is the very first version of the Home page for The Human Chromosome 14 Annotation. We plan to improve and update it ... This is the entry point for the updated data for the Human Chromosome 14 Annotation, published as an Advanced Online ... The other participating groups in the Chromosome 14 Project include the Institute for Systems Biology (Seattle, Washington, USA ...
Chromosome 7 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 7 ... A ring chromosome occurs when both ends of a broken chromosome are reunited. G-banding ideograms of human chromosome 7 In the ... See also: Category:Genes on human chromosome 7. The following is a partial list of genes on human chromosome 7. For complete ... "Chromosome 7". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 7". Human Genome Project Information Archive 1990- ...
Chromosome 5 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 5 ... A ring chromosome occurs when both ends of a broken chromosome are reunited. G-banding ideograms of human chromosome 5 "Human ... See also: Category:Genes on human chromosome 5. The following is a partial list of genes on human chromosome 5. For complete ... Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. This is partially explained by ...
Be the first to comment on "human-chromosomes". Leave a comment Cancel reply. Email address is optional. If provided, your ... Researchers Use Human Stem Cells to Create Model of the Human Kidney Glomerulus ... MIT Biological Engineers Program Human Cells to Store Complex Histories in Their DNA ... Voyager May Become the First Human-Made Object to Enter Interstellar Space ...
... researchers discuss the latest research on why many human oocytes frequently have a wrong number of chromosomes -- which may ... Ideally, eggs are packaged with a complete set of 23 chromosomes, but the process is prone to error, especially with age. In a ... human oocytes begin to divide into what will become mature eggs. ... How human eggs end up with the wrong number of chromosomes Cell ... Human oocytes pack the mothers DNA into 46 chromosomes. When they divide into eggs--a process called meiosis--these 46 ...
... healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields ... Chromosome translocations in peripheral blood lymphocytes of normal, ... Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of ... The significant effect of cigarette smoking has not been observed with previous pooled studies of TF in humans. Our data ...
  • This book continues to fulfill that need, and is strengthened by the complete revision of material on the molecular genetics of chromosomes and chromosomal defects. (springer.com)
  • Certain sex-determination genes occur in palindromic orientations -- head-to-head or tail-to-tail repeats of particular sequences -- which would make such intra-chromosomal repair possible, a pattern also found on the human Y chromosome, according to Heitman. (news-medical.net)
  • Other chromosomal conditions: Other changes in the number or structure of chromosome 22 can have a variety of effects, including mental retardation, delayed development, physical abnormalities, and other medical problems. (bionity.com)
  • In a small percentage of cases, trisomy 13 is caused by a rearrangement of chromosomal material between chromosome 13 and another chromosome. (bionity.com)
  • Other chromosomal conditions: Partial monosomy 13q is a rare chromosomal disorder that results when a piece of the long arm (q) of chromosome 13 is missing (monosomic). (bionity.com)
  • This idea was first proposed by researchers who noticed that humans and chimps share similar chromosomal staining patterns when observed under a microscope. (icr.org)
  • Does getting the right to life from all fetuses that do not have the appearance of a 46-chromosome human and are far from the well-known standards of human-chromosomal medicine have priority? (tehrantimes.com)
  • The chromosomal integration of the human insulin transgene was directly demonstrated by in situ hybridization to metaphase chromosomes of mitotic cells prepared from spleen and bone marrow. (springer.com)
  • Neither migration nor admixture are mentioned in the text, and, in my opinion, these processes have shaped modern human Y chromosomal variation. (blogspot.com)
  • Inside these vast structures chromosomal DNA is separated from bound factors and unwound to generate templates for the synthesis of daughter chromosomes. (hfsp.org)
  • Miller and a host of evolutionists have jumped on this alleged chromosomal fusion as evidence that humans, the chimpanzee, and other hominids all descended from one common ancestor. (apologeticspress.org)
  • Preparing, Staining and Observing G-banding human chromosomes Develop an understanding of karyotyping and the association of various chromosomal abnormalities to diseases. (slideserve.com)
  • Luskin took Miller to task for showing that the chromosomal fusion which resulted in human chromosome 2 was evidence for the common ancestry between humans and the great apes. (pandasthumb.org)
  • Given the lack of empirical evidence that random chromosomal fusion events are not disadvantageous, perhaps the presence of a chromosomal fusion event is not good evidence for a Neo-Darwinian history for humans. (pandasthumb.org)
  • We propose a unified comprehensive model of chromosomal and nuclear architecture in human sperm that, as we suggest, is important for successful fertilization and early development. (biologists.org)
  • The discovery could support the use of archaea in research to understand human diseases related to errors in cellular gene expression, such as cancer. (newswise.com)
  • Studies have shown that switching the wrong genes on or off during cellular growth in humans can lead to changes in gene expression that can ultimately be carcinogenic. (newswise.com)
  • The speciation model of suppressed recombination has recently been tested by gene and DNA sequence comparisons between humans and chimpanzees, between Drosophila species, and between species related to Anopheles gambiae , the vector of malignant malaria in Africa. (pnas.org)
  • This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. (nih.gov)
  • Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. (nih.gov)
  • The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. (nih.gov)
  • A pseudogene related to this gene is located on chromosome 2. (nih.gov)
  • Here we report the sequence and gene catalogue of the long arm of chromosome 21. (nih.gov)
  • The following are some of the gene count estimates of human chromosome 7. (wikipedia.org)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). (wikipedia.org)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
  • Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype" (PDF). (wikipedia.org)
  • Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities. (wikipedia.org)
  • Familial Adenomatous Polyposis is caused by a deletion of the APC tumor suppressor gene on the long (q) arm of chromosome 5. (wikipedia.org)
  • The title of the recent journal article accurately sums up the research findings: 'Chimpanzee and Human Y Chromosomes are Remarkably Divergent in Structure and Gene Content. (freerepublic.com)
  • As far as looking at specific genes, the chimp and human Y chromosomes had a dramatic difference in gene content of 53 percent. (freerepublic.com)
  • The human Y chromosome contains a third more gene categories--entirely different classes of genes--compared to chimps. (freerepublic.com)
  • A strategy was developed to generate expressed sequence tags (ESTs) from human pancreatic islet gene products using differential display of mRNA. (diabetesjournals.org)
  • Other researchers have found that the human Y chromosome -- and the functionally-related gene clusters it contains -- has a similar history, characterized by the "sequential capture of genes" on four separate occasions, Heitman said. (news-medical.net)
  • The researchers suggest that, despite the lack of recombination, some fungal mating type gene repair might occur through the exchange of gene segments within chromosomes. (news-medical.net)
  • A small percentage of retinoblastoma cases are caused by deletions in the region of chromosome 13 (13q14) containing the RB1 gene. (bionity.com)
  • 7 My analysis confirms that the site is located inside a gene called DDX11L2 on human chromosome 2. (icr.org)
  • 2002. Gene Content and Function of the Ancestral Chromosome Fusion Site in Human Chromosome 2q13-2q14.1 and Paralogous Regions. (icr.org)
  • XIST is the main actor in a fundamental process called X chromosome inactivation (XCI) where, in females, one of the two X chromosomes is silenced to balance the extra gene expression dosage. (springer.com)
  • Belling K, Russo F, Jensen AB et al (2017) Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity. (springer.com)
  • Brown CJ, Hendrich BD, Rupert JL, Lafreniere RG, Xing Y et al (1992) The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. (springer.com)
  • We have coordinated a large collaborative study to test hypotheses for the origins of modern European populations from a Y chromosome perspective (9, 10), interpreting patterns of diversity in terms of both the impact of the arrival of agriculture in Europe, and of linguistic and geographical barriers to gene flow. (le.ac.uk)
  • Three transgenic mouse lines, Tg 74, Tg 174, and Tg 171, were obtained by microinjection of an 11-kb human DNA fragment carrying the insulin gene into pronuclei of fertilized mouse eggs. (springer.com)
  • The human insulin gene was expressed in all three transgenic mouse lines as shown by the presence of human C peptide in serum and urine and of human insulin transcripts in RNA prepared from pancreas. (springer.com)
  • This is the first direct evidence in transgenic mice that a gene located at various chromosome loci can be correctly expressed. (springer.com)
  • Bucchini D, Madsen D, Desbois P, Pictet R, Jami J (1988) B Islet cells of pancreas are the site of expression of the human insulin gene in transgenic mice. (springer.com)
  • Fromont-Racine M, Bucchini D, Desbois P, Pictet R, Jami J (1988) Human insulin gene in transgenic mice. (springer.com)
  • Gregorova S, Baranov VS, Forejt J (1981) Partial trisomy (including T-t gene complex) of the chromosome 17 of the mouse. (springer.com)
  • Selden RF, Skoskiewicz MJ, Burke Howie K, Russell PS, Goodman HM (1986) Regulation of human insulin gene expression in transgenic mice. (springer.com)
  • This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). (statemaster.com)
  • PvuII polymorphic site upstream to the human ApoCIII gene. (harvard.edu)
  • Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11. (harvard.edu)
  • The nucleotide and derived amino acid sequence of human apolipoprotein A-IV mRNA and the close linkage of its gene to the genes of apolipoproteins A-I and C-III. (harvard.edu)
  • Mutations in an unknown locus ( MODY1 ) on chromosome 20 and the glucokinase gene ( MODY2 ) on chromosome 7 can cause this form of non-insulin-dependent diabetes. (diabetesjournals.org)
  • Focusing our efforts on the human X chromosome 3, we reconstructed the ∼2.8 megabase centromeric satellite DNA array and closed all 29 remaining gaps in the current reference, including new sequence from the human pseudoautosomal regions and cancer-testis ampliconic gene families (CT-X and GAGE). (nanoporetech.com)
  • A gene-centric Human Proteome Project has been proposed to characterize the human protein-coding genes in a chromosome-centered manner to understand human biology and disease. (diva-portal.org)
  • The status for each gene with regards to protein evidence is visualized in a chromosome-centric manner as part of a new version of the Human Protein Atlas (www.proteinatlas.org). (diva-portal.org)
  • She said that the point of creating the human artificial chromosome project is to develop a shuttle vector for gene delivery into human cells to study gene function in human cells. (thefreedictionary.com)
  • The mother can be $X^{c}X^{c}$, meaning she is homozygous recessive for the colorblindness gene and is colorblind because she has the colorblindness gene on both of her X chromosomes. (gradesaver.com)
  • She also can be $X^{C}X^{c}$, which means she is only a carrier and has the colorblindness gene only on one X chromosome whereas the other X chromosome has the normal gene that is expressed and masks the effects of the colorblindness gene. (gradesaver.com)
  • The male child only needs to inherit the colorblindness gene from one of his mother's chromosomes to be colorblind. (gradesaver.com)
  • The father could be either $X^{c}Y$ or $X^{C}Y$ because even if the father were colorblind and had the colorblindness gene on his single X chromosome, he could not pass his colorblindness gene on to male offspring because he only contributes the Y chromosome to his male offspring, and the Y chromosome does not carry the colorblindness gene at all. (gradesaver.com)
  • Using human tissue arrays, a systematic profiling of protein expression and subcellular localization was undertaken for the putative gene products. (mcponline.org)
  • As a pilot project, we describe an analysis of the putative gene products of human chromosome 21. (mcponline.org)
  • Here we present the finished sequence of human chromosome 12, which has been finished to high quality and spans approximately 132 megabases, representing approximately 4.5% of the human genome. (uniprot.org)
  • The explosion of information on human genetic diseases has meant that there is a greater need than ever for students, practising physicians, laboratory technicians, and researchers to have a concise, up-to-date summary of the normal and abnormal behavior of chromosomes. (springer.com)
  • 1. Chromosome banding patterns provide independent confirmation of relationship in hominids, in addition to anatomical, physiological, genetic, and molecular evidence. (indiana.edu)
  • This video segment from NOVA: "Judgment Day: Intelligent Design on Trial" reveals how genetic evidence helped to confirm an important component of Darwin's theory of evolution by natural selection: the common ancestry of humans and apes. (pbs.org)
  • More recent research has propped up Darwin's theory of common descent (also called common ancestry): genome analysis reveals the genetic difference between humans and chimps to be less than 2 percent. (pbs.org)
  • While the genetic similarity between human and ape strengthened Darwin's theory, a significant, unexplained discrepancy remained. (pbs.org)
  • The "suppressed-recombination" model of speciation points out that chromosome rearrangements act as a genetic filter between populations. (pnas.org)
  • Mutations associated with the rearranged chromosomes cannot flow from one to another population, whereas genetic exchange will freely occur between colinear chromosomes. (pnas.org)
  • Abnormalities in the number of chromosomes may result in genetic defects or serious he. (reference.com)
  • An extra copy of chromosome 21 causes Down syndrome, the most frequent genetic cause of significant mental retardation, which affects up to 1 in 700 live births. (nih.gov)
  • The Y chromosome is found only in males and contains many genes that specify male features, as well as genetic and regulatory information that is expressed throughout the whole body. (freerepublic.com)
  • Under evolutionary assumptions of long and gradual genetic changes, the Y chromosome structures, layouts, genes, and other sequences should be much the same in both species, given the relatively short--according to the evolutionary timeline--six-million-year time span since chimpanzees and humans supposedly diverged from a common ancestor. (freerepublic.com)
  • Scientists in Japan have completed the DNA sequence of a chimpanzee chromosome and lined it up alongside its human counterpart to identify genetic similarities and differences. (genomenewsnetwork.org)
  • Chimpanzees are our closest genetic relatives, and the chromosome sequences match up remarkably well. (genomenewsnetwork.org)
  • In a Review published October 20 in Trends in Cell Biology , researchers discuss the latest research on why many human oocytes frequently have a wrong number of chromosomes--which may lead to genetic disorders, such as Down syndrome and miscarriage. (eurekalert.org)
  • these transferred chromosomes were maintained as functioning genetic elements in the hybrid cells. (pnas.org)
  • Our results firmly establish subnuclear particle-mediated chromosome transfer as a valid somatic cell genetic tool. (pnas.org)
  • The fungus might therefore serve as a useful model system for the study of sex chromosome evolution and the genetic changes that can lead to infertility, he said. (news-medical.net)
  • These similarities suggest that further study of C. neoformans might help elucidate the genetic changes that can lead to infertility in fungi and humans, as well as the repair mechanisms that prevent its more common occurrence," Heitman said. (news-medical.net)
  • Chromosomes are dark-staining, threadlike structures in the cell nucleus composed of DNA and chromatin that carry genetic information (definition after Nussbaum et al and Mueller and Young). (amamanualofstyle.com)
  • Identifying genes on each chromosome is an active area of genetic research. (bionity.com)
  • A small extra chromosome is made up of genetic material from chromosome 22 that has been abnormally duplicated (copied). (bionity.com)
  • Please see Pattern and process in human genetic diversity: from genomes to populations for information about my current Fellowship project. (le.ac.uk)
  • The human DNA insert was transmitted to the progeny as a single genetic locus. (springer.com)
  • This particular Y chromosome came from an African-American man living in South Carolina who had sent a DNA sample to a consumer genetic testing company. (archaeology.org)
  • The human Y chromosome exhibits surprisingly low levels of genetic diversity. (blogspot.com)
  • Here, using genome-wide analyses of X, Y, autosomal and mitochondrial DNA, in combination with extensive population genetic simulations, we show that low observed Y chromosome variability is not consistent with a purely neutral model. (blogspot.com)
  • Although it was originally thought that 97% of human Deoxyribonucleic acid: the chemical inside the nucleus of a cell that carries the genetic instructions for making living organisms. (godandscience.org)
  • In this study, we investigate patterns of genetic diversity in noncoding regions across the entire X chromosome of a global sample of 26 unrelated genetic females. (genetics.org)
  • Phys.org) -University of Arizona geneticists have discovered the oldest known genetic branch of the human Y chromosome - the hereditary factor determining male sex. (phys.org)
  • Unlike the other human chromosomes , the majority of the Y chromosome does not exchange genetic material with other chromosomes, which makes it simpler to trace ancestral relationships among contemporary lineages. (phys.org)
  • When none of the genetic markers used to assign lineages to known Y chromosome groupings were found, the DNA sample was sent to Family Tree DNA for sequencing. (phys.org)
  • Hammer said "the most striking feature of this research is that a consumer genetic testing company identified a lineage that didn't fit anywhere on the existing Y chromosome tree, even though the tree had been constructed based on perhaps a half-million individuals or more. (phys.org)
  • Recent genetic studies have identified a third locus on chromosome 12 ( MODY3 ) that is linked to MODY in a group of French families. (diabetesjournals.org)
  • In the X chromosome, the centromere encompasses a region of highly repetitive DNA spanning 3.1 million base pairs (the bases A, C, T, and G form pairs in the DNA double helix and encode genetic information in their sequence). (sott.net)
  • The C-FIPP consortium was established to organize a collaborative network among the research teams responsible for protein mapping of individual chromosomes and to identify compelling biological and genetic mechanisms influencing colocated genes and their protein products. (lu.se)
  • Second, a chromosome normally has one centromere, or central point at which a chromosome's two identical strands are joined. (pbs.org)
  • Yet remnants of a second, presumably inactive centromere can be found on human chromosome 2. (pbs.org)
  • In a paper published today in Cell , Penn researchers describe a new way to form an essential part of the artificial chromosome, called the centromere, by bypassing the biological requirements needed to form a natural one. (eurekalert.org)
  • By being able to build a centromere on a HAC in a more straightforward way, we are closer to scaling up to full-size chromosomes. (eurekalert.org)
  • Inheritance of HACs from mother to daughter cells during division is key, and this speaks to the importance of the centromere--the cinched area of duplicated chromosomes responsible for holding together pairs of "sister" chromosomes created when cells divide. (eurekalert.org)
  • For example, mammals depend on the CENP-A protein to specify centromere location on chromosomes for precise cell division. (eurekalert.org)
  • We've taken our centromere bypass method to make a fully functional HAC without the cloning nightmares that repetitive centromere DNA has presented to mammalian chromosome engineers through the last two decades," Black said. (eurekalert.org)
  • The constricted region of linear chromosomes is known as the centromere. (genome.gov)
  • Although this constriction is called the centromere, it usually is not located exactly in the center of the chromosome and, in some cases, is located almost at the chromosome's end. (genome.gov)
  • As chromosomes are copied in preparation for production of a new cell, the centromere serves as an attachment site for the two halves of each replicated chromosome, known as sister chromatids. (genome.gov)
  • Chromosomes, which consist of two identical chromatids joined at a centromere (light), are composed of deoxyribonucleic acid (DNA) coiled around proteins. (sciencephoto.com)
  • Definition: Chromosome having its centromere in the middle. (humpath.com)
  • Definition: Chromosome whose centromere lies very near one end. (humpath.com)
  • The remaining break was at the centromere, a notoriously difficult region of repetitive DNA found in every chromosome. (sott.net)
  • Since the centromere is the point at which the spindle attaches to the chromosome at mitosis and meiosis, wouldn't having two centromeres result in the possibility of the spindle attaching at two points on the chromosome, pulling it apart? (pandasthumb.org)
  • A common counterargument to this is that in many dicentrics, one centromere becomes inactivated, and, indeed, that seems to be the case in human chromosome 2. (pandasthumb.org)
  • But doesn't that mean we now need two mutations -first the fusion, then the centromere inactivation- to get a viable chromosome? (pandasthumb.org)
  • Thus, in a fusion between two non-homologous chromosomes, like that of human chromosome 2, one centromere begins preparing its kinetochores before the other, and by being able to do so may interfere with the other finishing (or even beginning) in time for the next phase of meiosis or mitosis. (pandasthumb.org)
  • Approximately 90% of human Robertsonian translocations occur between nonhomologous acrocentric chromosomes, producing dicentric elements which are stable in meiosis and mitosis, implying that one centromere is functionally inactivated or suppressed. (pandasthumb.org)
  • By essentially 'out-competing' the other centromere, normal segregation of the chromosomes at meiosis is achieved, without requiring two mutations. (pandasthumb.org)
  • Hypothetical model in which chimpanzee chromosomes 2A and 2B fused end-to-end to form human chromosome 2. (icr.org)
  • The similarities are striking and quite convincing that Homo sapiens chromosome 2 is the counterpart of the chimpanzee chromosomes 2A and 2B. (apologeticspress.org)
  • Of the four species of great apes, also known as hominids, the chimpanzee ( Pan troglodytes ) harbors the most similar DNA sequence to humans, making it genetically the closest to Homo sapiens . (apologeticspress.org)
  • One of the main deficiencies with the original chimpanzee genome sequence published in 20053 was that it was a draft sequence and only represented a 3.6-fold random coverage of the 21 chimpanzee autosomes, and a 1.8-fold redundancy of the X and Y sex chromosomes. (freerepublic.com)
  • This includes 22 pairs of autosomes and one pair of sex chromosomes. (reference.com)
  • 44 are autosomes, that is non-sex chromosomes and two are the sex chromosomes - X and Y. (brighthub.com)
  • Covers human autosomes and sex chromosomes. (ck12.org)
  • Some genes that were thought to be lost from the Y chromosome have actually relocated to the autosomes. (genome.gov)
  • Unlike the autosomes, recombination between the X chromosome and Y chromosome is often thought to be constrained to two small pseudoautosomal regions (PARs) at the tips of each sex chromosome. (genetics.org)
  • sensitivity of 33258 Hoechst fluorescence allows microfluorometric analysis of sister chromatid exchanges in human metaphase chromosomes. (sciencemag.org)
  • Previous research using microdensitometric scanning and computer graphic image analysis showed that T-banded segments of human metaphase chromosomes usually exhibit an asymmetrical distribution of high density (HD) chromatin between sister chromatids. (scielo.br)
  • 2004) confer high resistance to heat denaturation to the terminal regions of metaphase chromosomes which results in selective staining after T-banding (Dutrillaux, 1973). (scielo.br)
  • In other words, humans and chimps have DNA sequences that are greater than 98 percent similar. (pbs.org)
  • And third, whereas a normal chromosome has readily identifiable, repeating DNA sequences called telomeres at both ends, chromosome 2 also has telomere sequences not only at both ends but also in the middle. (pbs.org)
  • Mapping of hRAD21, SNF2h and Mi2 binding sites by chromatin immunoprecipitation experiments reveals the specific association of these three proteins with human DNA elements containing Alu sequences. (nih.gov)
  • These results indicate that this PCR-based cDNA selection strategy yields information on a distinct subset of pancreatic islet transcribed sequences, which complements ongoing human EST identification efforts based on random cDNA selection. (diabetesjournals.org)
  • In searching for the basis of the physical variation between chimpanzees and humans, differences in genome sequences are just the first place to start: we need to know what these differences mean," writes Jean Weissenbach of Genoscope, France, in a perspective that accompanies the paper in Nature . (genomenewsnetwork.org)
  • Telomere sequences at the ends of chromosomes are 5,000 to 15,000 bases long. (icr.org)
  • These highly purifed labeled sequences reassociate only with DNA from individuals with a Y chromosome. (sciencemag.org)
  • The purifed Y-chromosome-specific sequences may represent between 7 and 11 percent of the human Y chromosome. (sciencemag.org)
  • sequences would provide the answer to the question of why humans are so different from their closest living ancestors. (godandscience.org)
  • Genetically speaking, those species which have DNA sequences most similar to that of humans are the great apes. (apologeticspress.org)
  • The Y chromosome includes millions of mutable sites and these will be generally reported both by the 1000 Genomes Project, and the plethora of full genome sequences that is about to become available. (blogspot.com)
  • Although the project was designed to provide a general proof-of-concept for whole proteome analysis, specific information gained from the chromosome 21-encoded proteome may be valuable for the studies of a range of common complex diseases that map to this chromosome, also including disorders such as cancer and Down syndrome that result from deletion or duplication of sequences on this chromosome. (mcponline.org)
  • Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. (bionity.com)
  • Trisomy 13 can also result from an extra copy of chromosome 13 in only some of the body's cells (mosaic trisomy 13). (bionity.com)
  • RIKEN had sequenced human chromosome 21 in 2000 as part of the Human Genome Project. (genomenewsnetwork.org)
  • The compact chromosome territories, which in sperm have a preferred intranuclear localization, have an extended conformation represented by a 2000 nm chromatin fiber. (biologists.org)
  • The cellular machinery involved in sister chromatid cohesion, the cohesin complex, also requires access to the nucleosomal DNA to perform its function in chromosome segregation. (nih.gov)
  • This figure depicts chromosome segregation errors in meiosis. (eurekalert.org)
  • We're really interested in understanding what controls the segregation of chromosomes when an egg develops and where errors come from that could explain the high rate of eggs having an abnormal number of chromosomes," says Melina Schuh, Director of the Department of Meiosis at the Max Plank Institute for Biophysical Chemistry in Germany, who co-authored the paper with postdoctoral fellow Alexandre Webster. (eurekalert.org)
  • Compared to other species, there is some evidence that human eggs are less able to monitor whether all chromosomes are correctly attached to the spindle fibers prior to segregation, independent of age. (eurekalert.org)
  • The degree of spindle reorganization correlates with chromosome segregation errors. (eurekalert.org)
  • The points where spindle fibers attach to chromosomes (called kinetochores) also start to disintegrate with age, allowing chromosomes to orient in an abnormal way on the spindle, which is very likely to promote chromosome segregation errors. (eurekalert.org)
  • Alignment of the human chromosome 12 sequence across vertebrates reveals the origin of individual segments in chicken, and a unique history of rearrangement through rodent and primate lineages. (uniprot.org)
  • The explanation that the 'complete' chromosome two is ancestral and that the lineages of the other apes (gorilla, chimpanzee, orangutan) have each and independently experienced centromeric breaks, is not parsimonious and not accepted by experts in evolution. (bio.net)
  • By examining the differences between modern Y chromosomes (as DNA polymorphisms) we can attempt to reconstruct a history of human paternal lineages (1). (le.ac.uk)
  • It is likely that other divergent lineages will be found, whether in Africa or among African-Americans in the U.S. and that some of these may further increase the age of the Y chromosome tree," he added. (archaeology.org)
  • Migration may result in the expansion of a successful set of Y chromosome lineages, while admixture between divergent populations may inflate estimates of diversity in a population. (blogspot.com)
  • It will be nice to see others join in on the SNP bandwagon , because that is really the way forward in age estimation for Y-chromosome lineages. (blogspot.com)
  • The phases through which chromosomes replicate, divide, shuffle, and recombine are imperfect, as DNA is subject to random mutations. (pbs.org)
  • Mutations adaptive to local conditions will, therefore, accumulate differentially in the protected chromosome regions so that parapatric or partially sympatric populations will genetically differentiate, eventually evolving into different species. (pnas.org)
  • These unique properties of the Y have important consequences for its mutation processes, its genes, and its population genetics: Y chromosomes pass down from father to son largely unchanged, except by the gradual accumulation of mutations. (le.ac.uk)
  • Alternatively, selection acting on new mutations, and affecting linked neutral sites, could reduce variability on the Y chromosome. (blogspot.com)
  • While we show that purifying selection removing deleterious mutations can explain the low diversity on the Y chromosome, we cannot exclude the possibility that positive selection acting on beneficial mutations could have also reduced diversity in linked neutral regions, and may have contributed to lowering human Y chromosome diversity. (blogspot.com)
  • The more mutations that differ between two Y chromosomes the farther back in time the common ancestor lived. (phys.org)
  • They do not yet know what effects these changes may have had on the biology of humans or chimpanzees. (genomenewsnetwork.org)
  • The other participating groups in the Chromosome 14 Project include the Institute for Systems Biology (Seattle, Washington, USA), the Genome Sequencing Center (Washington University at St. Louis, Missouri, USA) and the Human Genome Organisation . (cns.fr)
  • Alexandre Webster et al, Mechanisms of Aneuploidy in Human Eggs, Trends in Cell Biology (2016). (phys.org)
  • Our analysis indicates this lineage diverged from previously known Y chromosomes about 300,000 ago, a time when anatomically modern humans had not yet evolved," said Michael Hammer, an associate professor in the University of Arizona's department of ecology and evolutionary biology and a research scientist at the UA's Arizona Research Labs. (phys.org)
  • Filling in the remaining gaps in the human genome sequence opens up new regions of the genome where researchers can search for associations between sequence variations and disease and for other clues to important questions about human biology and evolution. (sott.net)
  • We're starting to find that some of these regions where there were gaps in the reference sequence are actually among the richest for variation in human populations, so we've been missing a lot of information that could be important to understanding human biology and disease," Miga said. (sott.net)
  • A companion approach for the Biology and Disease-Driven HPP (B/D-HPP) component of the Human Proteome Project is currently being organized, building upon the Human Proteome Organization's organ-based and biofluid-based initiatives (www.hupo.org/research). (lu.se)
  • Newswise - A study led by researchers at Indiana University is the first to find similarities between the organization of chromosomes in humans and archaea. (newswise.com)
  • Within this model of genome architecture in human sperm, structural organization of chromosomes remain largely unresolved. (biologists.org)
  • In particular, it explains that humans have one fewer chromosome pair in their cells than apes, due to a mutation found in chromosome number 2 that caused two chromosomes to fuse into one. (pbs.org)
  • If humans and apes shared a common ancestor, shouldn't both have the same number of chromosomes in their cells? (pbs.org)
  • As a result, the bovines produced immune cells that spit out human antibodies. (sciencemag.org)
  • If anything, they may work better because they'll be able to communicate with human immune cells more fluently, he says. (sciencemag.org)
  • Human cells are horrifyingly complex, and understanding the rules that govern DNA folding is extremely challenging," Bell said. (newswise.com)
  • Each time one of our cells divides the chromosomes condense and form distinct shapes that can be seen by a normal light microscope. (kickstarter.com)
  • We have 46 chromosomes in our cells arranged into 23 pairs. (kickstarter.com)
  • Building on our success, we and others in the synthetic chromosome field will now have a real chance to attain what has only been achieved so far in yeast cells. (eurekalert.org)
  • Chromosome 7 spans about 159 million base pairs (the building material of DNA) and represents between 5 and 5.5 percent of the total DNA in cells. (wikipedia.org)
  • Chromosome 5 spans about 181 million base pairs (the building blocks of DNA) and represents almost 6% of the total DNA in cells. (wikipedia.org)
  • Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. (genome.gov)
  • Changes in the number or structure of chromosomes in new cells may lead to serious problems. (genome.gov)
  • It is also crucial that reproductive cells, such as eggs and sperm, contain the right number of chromosomes and that those chromosomes have the correct structure. (genome.gov)
  • The only human cells that do not contain pairs of chromosomes are reproductive cells, or gametes, which carry just one copy of each chromosome. (genome.gov)
  • When two reproductive cells unite, they become a single cell that contains two copies of each chromosome. (genome.gov)
  • This cell then divides and its successors divide numerous times, eventually producing a mature individual with a full set of paired chromosomes in virtually all of its cells. (genome.gov)
  • Besides the linear chromosomes found in the nucleus, the cells of humans and other complex organisms carry a much smaller type of chromosome similar to those seen in bacteria. (genome.gov)
  • White blood cells and other cell types with the capacity to divide very frequently have a special enzyme that prevents their chromosomes from losing their telomeres. (genome.gov)
  • This leads to egg cells that unintentionally contain too few or too many (22 or 24) chromosomes--a condition known as aneuploidy. (eurekalert.org)
  • In this report, we describe the production and characterization of proliferating hybrid cell populations generated by fusion of murine microcells with intact mouse, Chinese hamster, and human recipient cells. (pnas.org)
  • Chromosome 22 is the second smallest human chromosome, spanning about 49 million base pairs (the building material of DNA ) and representing between 1.5 and 2 % of the total DNA in cells . (bionity.com)
  • Chromosome 13 spans about 113 million base pairs (the building material of DNA ) and represents between 3.5 and 4 % of the total DNA in cells . (bionity.com)
  • There are 46 human chromosomes inside most cells. (brighthub.com)
  • Cultivating human cells in the Petri dish is not a big challenge today. (innovations-report.com)
  • Men who smoke have fewer Y chromosomes in their blood cells compared to non-smokers. (genome.gov)
  • Human pluripotent stem cells offer a limitless source of cells for regenerative medicine. (jci.org)
  • Neural derivatives of human embryonic stem cells (hESCs) are currently being used for cell therapy in 3 clinical trials. (jci.org)
  • The apparent spontaneous loss of evolution toward normal senescence of somatic cells was associated with a jumping translocation of chromosome 1q. (jci.org)
  • Therefore, the 46 nuclear chromosomes, that all humans possess within their cells, are actually 23 pairs of identical chromosomes. (apologeticspress.org)
  • In a class discussion format, students are presented with background information about basic human genetics.The number of chromosomes in both body cells and egg and sperm cells is covered, as well as the concept of dominant and recessive alleles. (teachengineering.org)
  • State the number of chromosomes in human body, sperm and egg cells. (teachengineering.org)
  • Explain why sperm and eggs cells have only half the number of chromosomes found in the body cells. (teachengineering.org)
  • First I will tell you what we know from studies of human cells and human subjects. (hstalks.com)
  • And last, changing the focus from inactive to active X, I will tell you why diploid human cells have only a single active X, no matter the number of Xs in the cell and how this active X is chosen. (hstalks.com)
  • And now we have begun to study human ES cells, embryonic stem cells and cleaving embryos left over from in vitro fertilization. (hstalks.com)
  • Here, we report on the protein evidence for all genes predicted from the genome sequence based on manual annotation from literature (UniProt), antibody-based profiling in cells, tissues and organs and analysis of the transcript profiles using next generation sequencing in human cell lines of different origins. (diva-portal.org)
  • The use of human artificial chromosomes overcomes both of these problems by providing a new chromosome in addition to the ones that already exist in the cells of the subject. (thefreedictionary.com)
  • To prepare human chromosomes for viewing (Figure 3.2a): Somatic cells are obtained from the blood. (coursehero.com)
  • A dye that binds to the chromosomes is applied to the cells. (coursehero.com)
  • thus, all somatic cells have two sets of chromosomes. (coursehero.com)
  • In this context, specific and well-organized nuclear organization recently demonstrated for human sperm cells may be of special interest. (biologists.org)
  • This study partially fills the noticeable gaps between our knowledge of the elementary DNA-protamine structure and the higher-order chromosome packing in human sperm cells. (biologists.org)
  • Human sperm cells were obtained from the semen of 10 healthy, fertile donors. (biologists.org)
  • PHILADELPHIA) - For the past 20 years, researchers have been trying to perfect the construction of human artificial chromosomes, or HACs for short. (eurekalert.org)
  • Structural maintenance of chromosomes 4 is a predictor of survival and a novel therapeutic target in colorectal cancer. (nih.gov)
  • Karyotype 2 design simply has all 24 types of chromosomes arranged 1-24 (anticlockwise) with the centromeres (the part where the two sides are joined) lined up. (kickstarter.com)
  • This makes the ring look strange in the images, as some of the centromeres are at the top of the chromosomes and some at the bottom, but when worn this effect is great. (kickstarter.com)
  • Human artificial chromosome (HAC, green) with two sister centromeres (red), similar to that of the natural host chromosomes (blue). (eurekalert.org)
  • For cell replication to occur, human centromeres are not simply coded by a DNA sequence, unlike baker's yeast long used synthetic chromosome research. (eurekalert.org)
  • Centromeres help to keep chromosomes properly aligned during the complex process of cell division. (genome.gov)
  • ID proponents on human chromosome 2 sometimes bring up the fact that a telomeric fusion results in a dicentric chromosome, that is, a chromosome with two centromeres. (pandasthumb.org)
  • A 1994 paper by Beth Sullivan and her lab at Duke University suggests that not all centromeres are equal: centromeres from non-homologous chromosomes appear to assemble kinetochores at different rates. (pandasthumb.org)
  • They protect the ends of chromosomes in a manner similar to the way the tips of shoelaces keep them from unraveling. (genome.gov)
  • Telomeres are a six-base sequence of the DNA letters TTAGGG repeated over and over again at the ends of chromosomes. (icr.org)
  • Recombination is the process whereby each member of a pair of chromosomes exchange segments of DNA. (news-medical.net)
  • The impetus for this concept is the evolutionary problem that apes have an extra pair of chromosomes-humans have 46 while apes have 48. (icr.org)
  • Before the split between birds and mammals, the X and Y chromosomes were just like any other pair of chromosomes each was fairly similar and carried similar information. (bio-medicine.org)
  • A circular structure called ring chromosome 7 is also possible. (wikipedia.org)
  • Changes to chromosome 5 include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 5p or 5q), a missing segment of the long arm of the chromosome in each cell (partial monosomy 5q), and a circular structure called ring chromosome 5. (wikipedia.org)
  • These changes include an extra piece of chromosome 22 in each cell (partial trisomy), a missing segment of the chromosome in each cell (partial monosomy), and a circular structure called ring chromosome 22 that is caused by the breakage and reattachment of both ends of the chromosome. (bionity.com)
  • Several anonymous loci for monogenic disorders and predispositions for common complex disorders have also been mapped to this chromosome, and loss of heterozygosity has been observed in regions associated with solid tumours. (nih.gov)
  • In fungi, sexual identity is determined by so-called "mating type loci," genes located in a contiguous region of the genome, but which typically do not span an entire chromosome. (news-medical.net)
  • Human chromosome 12 contains more than 1,400 coding genes and 487 loci that have been directly implicated in human disease. (uniprot.org)
  • Genes on homologous chromosomes have the same location, or loci. (coursehero.com)
  • Using a panel of twenty microsatellite loci spanning the regions on chromosome Yq that have been associated with male infertility, each sample is analyzed by polymerase chain reaction (PCR) for the presence of a deletion. (uhhospitals.org)
  • The banding patterns seen on stained chromosomes from humans and chimpanzees are compared in detail, showing striking similarities. (indiana.edu)
  • 3. Predictions of similarities of chromosomes, based on the assumption of evolutionary relationships, can be tested. (indiana.edu)
  • 3. demonstrate their understanding that degrees of similarities in chromosomes correspond to degrees of evolutionary relationship. (indiana.edu)
  • Regions of the genome that determine the sexual identity of the infectious fungus Cryptococcus neoformans bear striking similarities to the human Y chromosome -- the sex chromosome associated with male characteristics -- the team found. (news-medical.net)
  • The concept of a fusion first came about in 1982 when scientists examined the similarities of human and ape chromosomes under a microscope. (icr.org)
  • Possible evolutionary relationships are explored, as are the chromosomes and relationships of other apes. (indiana.edu)
  • Primate Cladogram (based on chromosome banding pattern analysis of apes and old world monkeys) should be examined. (indiana.edu)
  • Based on fossil evidence and comparative anatomy, Charles Darwin proposed that humans and great apes-which include chimpanzees, gorillas, and orangutans-share a common ancestor that lived several million years ago. (pbs.org)
  • While great apes all have 48 chromosomes (24 pairs), humans have only 46 (23 pairs). (pbs.org)
  • To corroborate Darwin's theory, scientists would need to find a valid explanation for why a chromosome pair is missing in humans that is present in apes. (pbs.org)
  • or the ancestor had 23 pairs, and apes carry a split chromosome. (pbs.org)
  • First, the banding (or dye pattern) of human chromosome 2 closely matches that of two separate chromosomes found in apes (chimp chromosome 2 and an extra chromosome that does not match any other human chromosome). (pbs.org)
  • If humans had been found to have 24 chromosome pairs, this would have been understood as evidence for common ancestry with apes because apes also have 24. (creation.com)
  • Humans and great apes differ in chromosome numbers-humans have 46 while apes have 48. (icr.org)
  • One of the more popular arguments used for humans supposedly evolving from apes is known as the chromosome fusion. (icr.org)
  • If humans evolved from an ape-like creature only three to six million years ago, a mere blip in the grand scheme of the evolutionary story, why do humans and apes have this discrepancy? (icr.org)
  • It might comfort those wishing to blame incest on the non-human apes but it is not very scientific. (bio.net)
  • Humans have 23 pairs including a single chromosome 2 (46 total), while the great apes have 24 pairs including the distinct chromosomes 2A and 2B (48 total). (apologeticspress.org)
  • Most modern evolutionary biologists do not claim that humans evolved from chimpanzees or any of the other living apes. (apologeticspress.org)
  • Instead, it is proposed that humans and the great apes all evolved separately from one now extinct common ancestor through independent evolutionary lines (Figure 1). (apologeticspress.org)
  • What is chromosome 7, "Genetics Home Reference" of U.S. National Library of Medicine. (wikipedia.org)
  • Chimps inherit 24 chromosomes from each parent and have 24 chromosome pairs. (creation.com)
  • The first is that we share a common ancestor with chimps and that, during the course of evolution, chromosome fusion has taken place. (creation.com)
  • 1 However, humans and chimps also have regions of their chromosomes that do not share common staining patterns. (icr.org)
  • Although found in every type of environment, including the human body, archaea are poorly understood compared to the other two domains: bacteria and eukaryotes, which include mammals such as humans. (newswise.com)
  • In humans and other mammals, males have one X and one Y chromosome, while females have a pair of X's. (news-medical.net)
  • sequencing the male-specific region of the One of the two sex chromosomes that determines maleness in mammals, carried and passed down from males to males. (godandscience.org)
  • Y chromosome evolved from the One of the two sex chromosomes, carried by males (1 copy) and females (2 copies) in mammals. (godandscience.org)
  • X chromosome some 300-160 million years ago, primarily during the evolution of mammals. (godandscience.org)
  • This step-by-step construction project is the goal of the Human Genome Project-Write, a collaboration to build that life-size synthetic chromosome. (eurekalert.org)
  • In the 2005 chimpanzee genome project and resulting Nature journal publication, the sequence contigs4 were not assembled and oriented based on a map of the chimpanzee genome, but rather on a map of the human genome. (freerepublic.com)
  • In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. (bionity.com)
  • The Human Genome Project (HGP) endeavored to map the human genome down to the nucleotide (or base pair) level and to identify all the genes present in it. (statemaster.com)
  • The Human Genome Project was completed in 2003. (ornl.gov)
  • The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. (ornl.gov)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (bionity.com)
  • 2002. Genomic Structure and Evolution of the Ancestral Chromosome Fusion Site in 2q13-2q14.1 and Paralogous Regions on Other Human Chromosomes. (icr.org)
  • Humans, along with other animals and plants, have linear chromosomes that are arranged in pairs within the nucleus of the cell. (genome.gov)
  • This circular chromosome is found in mitochondria, which are structures located outside the nucleus that serve as the cell's powerhouses. (genome.gov)
  • Chromosomes are present in the nucleus of every cell of the body. (sciencephoto.com)
  • In the nucleus of each cell, the DNA molecule is packaged into a thread-like struture called chromosomes. (genome.gov)
  • sequence of the human All the DNA contained in an organism or a cell, which includes both the chromosomes within the nucleus and the DNA in mitochondria. (godandscience.org)
  • However, closer examination of the entire All the DNA contained within species of organisms, which includes both the chromosomes within the nucleus and the DNA in mitochondria. (godandscience.org)
  • Telomeres are repetitive stretches of DNA located at the ends of linear chromosomes. (genome.gov)
  • Telomeres protect the ends of the chromosomes from damage and stop them from becoming attached to each other. (brighthub.com)
  • Telomeres are the regions at the end of chromosomes that contain thousands of repeats of the DNA sequence "TTAGG. (icr.org)
  • People normally have two copies of this chromosome. (wikipedia.org)
  • For example, people with Down syndrome have three copies of chromosome 21, instead of the two copies found in other people. (genome.gov)
  • Trisomy 13 occurs when each cell in the body has three copies of chromosome 13 instead of the usual two copies. (bionity.com)
  • As a result, a person has the two usual copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. (bionity.com)
  • Several copies of the human DNA fragment arranged in head-to-tail arrays were present in each line. (springer.com)
  • International study of factors affecting human chromosome translocations. (cdc.gov)
  • Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. (cdc.gov)
  • Recurrent chromosome translocations in liposarcoma. (harvard.edu)
  • To determine if this suppression is random, centromeric activity in 48 human dicentric Robertsonian translocations was assigned by assessment of the primary constrictions using dual color fluorescence in situ hybridization (FISH). (pandasthumb.org)
  • Mapping is the construction of a series of chromosome descriptions that depict the position and spacing of unique, identifiable biochemical landmarks, including some genes, that occur on the DNA of chromosomes. (ornl.gov)
  • Their focused research led them to find a mutation on one human chromosome that explained what had happened. (pbs.org)
  • This model encounters a disabling difficulty: namely, how to account for the spread in a population of a chromosome rearrangement after it first arises as a mutation in a single individual. (pnas.org)
  • mutation analysis at MSY1 provides a tool which should allow us to estimate ages for the most recent common ancestors of groups of chromosomes, as an alternative to microsatellites (7). (le.ac.uk)
  • This region shows a significant divergence between human and chimpanzee , suggesting that its high mutation rates have contributed to the evolution of the human brain. (wikidoc.org)
  • If two Y chromosomes carry the same mutation, it is because they share a common paternal ancestor at some point in the past. (phys.org)
  • there will, of course, be lingering uncertainty of parameters such as generation length, but Y chromosome mutation rates are likely to become very secure once full genome sequencing becomes so cheap that it can be applied to a number of father-son pairs. (blogspot.com)
  • Evolution Lesson: Comparison of Human and Chimp. (indiana.edu)
  • It turns out that chromosome 2, which is unique to the human lineage of evolution, emerged as a result of the head-to-head fusion of two ancestral chromosomes that remain separate in other primates. (pbs.org)
  • Particularly, he made much of recent studies of human and chimp DNA and argued that this provided irrefutable evidence of evolution. (creation.com)
  • Since humans actually have 23, it is understood that this provides evidence that evolution resulted in ape chromosomes being fused. (creation.com)
  • And the results are not good news for the story of human evolution. (freerepublic.com)
  • The researchers found nearly 68,000 stretches of DNA that were different between the two species, including DNA that had been added to or deleted from one of the chromosomes over the course of evolution. (genomenewsnetwork.org)
  • Human descent with modification (human evolution) is going to stand or fall on the results of genomic Determining the order of nucleotides in a DNA or RNA molecule, or the order of amino acids in a protein molecule. (godandscience.org)
  • Hammer cautions against popular concepts of "mitochondrial Eve" or "Y chromosome Adam" that suggest all of humankind descended from exactly one pair of humans that lived at a certain point in human evolution. (phys.org)
  • The authors, in tracing the evolution of the X chromosome, showed that slowly, but surely, the Y chromosome "dropped off the face of the earth," said Scherer. (bio-medicine.org)
  • Using epifluorescence microscopy following two-color fluorescence in-situ hybridization (FISH) with micro-dissected probes for the p-arms and q-arms of the large metacentric chromosome 1 and chromosome 2 (CHR1 and CHR2), and the large submetacentric chromosome 5 (CHR5), we dissected the internal organization of CTs, and describe here successive hierarchies of chromosome structures. (biologists.org)
  • Here, we report the isolation of a human ISWI (SNF2h)-containing chromatin remodelling complex that encompasses components of the cohesin and NuRD complexes. (nih.gov)
  • Here, we employed the same methods to analyze HD chromatin distribution at opposite ends of T-banded human lymphocyte chromosomes. (scielo.br)
  • This study revealed that in most chromosomes with an asymmetrical distribution of HD chromatin at both ends, the highest densities of each arm were located in opposite chromatids. (scielo.br)
  • The frequency of this configuration was 0.792 per chromosome, indicating that the highest chromatin densities of the terminal segments of T-banded human chromosomes were non-randomly distributed at opposite chromosome arms. (scielo.br)
  • Microdensitometric scanning and computer graphic image analysis of high-resolution microphotographs of T-banded segments of human and Chinese Hamster Ovary (CHO) chromosomes allowed the detection of a differential distribution of HD sub-telomeric chromatin between sister chromatids. (scielo.br)
  • These patterns were confirmed by scanning T-banded endoreduplicated CHO chromosomes in which the same interchromatid distribution of HD chromatin appeared in both sister chromosomes (Drets and Mendizábal, 1998). (scielo.br)
  • Nevertheless, quantitative computerized microdensitometrical analyses on the distribution of HD chromatin at opposite ends of T-banded chromosomes have not yet been reported. (scielo.br)
  • Therefore, we performed microdensitometric scanning and computer graphic image analysis to study HD chromatin distribution at T-banded human chromosomes that showed asymmetry at opposite ends. (scielo.br)
  • Here, using fluorescence in-situ hybridization (FISH) with arm-specific DNA probes of chromosomes 1, 2 and 5, we visualized arm domains and established hierarchical levels of sperm chromatin structures. (biologists.org)
  • Overexpression of the structural maintenance of chromosome 4 protein is associated with tumor de-differentiation, advanced stage and vascular invasion of primary liver cancer. (nih.gov)
  • The analytical service to be developed will be for clinical research applications, the partners said, and will include bioinformatic tools to complete a human genome sequence and to detect and analyze structural variations in chromosomes. (genomeweb.com)
  • Whereas recent studies demonstrated a well-defined nuclear architecture in human sperm nuclei, little is known about the mode of DNA compaction above the elementary structural unit of nucleoprotamine toroids. (biologists.org)
  • Separation of DNA fragments larger than 20 kb by pulse-field electrophoresis showed that several insertion sites were present in each chromosome locus. (springer.com)
  • Chromosome rearrangements (such as inversions, fusions, and fissions) may play significant roles in the speciation between parapatric (contiguous) or partly sympatric (geographically overlapping) populations. (pnas.org)
  • This was surprising because previously the most diverged branches of the Y chromosome were found in traditional hunter-gatherer populations such as Pygmies and the click-speaking KhoeSan, who are considered to be the most diverged human populations living today. (phys.org)
  • I also earnestly hope that the next set of Y chromosome papers on recent populations will forego the cost of testing hundreds of samples on Y-STRs and invest in full Y-chromosome sequencing of a few samples after an initial Y-SNP screening. (blogspot.com)
  • Now, a team led by researchers at the U.S. Army Medical Research Institute of Infectious Diseases (USAMRIID) in Frederick, Maryland, has used genetically engineered cows to produce large amounts of human antibodies against hantavirus, an often deadly disease mainly transmitted from rodents to people. (sciencemag.org)
  • The USAMRIID researchers, led by virologist Jay Hooper, teamed up with SAB Biotherapeutics in Sioux Falls, South Dakota, to use genetically engineered cows that, when presented with an antigen, could produce fully human polyclonal antibodies against both the Sin Nombre hantavirus strain, first isolated from the Four Corners region of the southwestern United Sates, and the Andes hantavirus strain, which is prevalent in Chile. (sciencemag.org)
  • Researchers have defined narrow regions of the short arm of chromosome 5 that are associated with particular features of cri-du-chat syndrome. (wikipedia.org)
  • Supposed proof for the alleged fusion came in 1991, when researchers discovered a fusion-like DNA sequence about 800 bases in length on human chromosome 2. (icr.org)
  • The publication of the telomere-to-telomere assembly of a complete human X chromosome July 14 in Nature is a landmark achievement for genomics researchers. (sott.net)
  • According to the "hybrid-dysfunction" model, speciation occurs because hybrids with heterozygous chromosome rearrangements produce dysfunctional gametes and thus have low reproductive fitness. (pnas.org)
  • Hermann BG, Barlow DP, Lehrach H (1987) A large inverted duplication allows homologous recombination between chromosomes heterozygous for the proximal t complex inversion. (springer.com)
  • Furthermore, the fact that humans are not inbred and are in fact very heterozygous for many X-linked genes has enabled studies less feasible in other mammal. (hstalks.com)
  • Here we present a de novo human genome assembly that surpasses the continuity of GRCh38 2, along with the first gapless, telomere-to-telomere assembly of a human chromosome. (nanoporetech.com)
  • The ability to sequence the Y chromosome is a relatively new field of genomics research. (genome.gov)
  • It is an unusual segment of the human genome since, apart from two small regions in which pairing and exchange take place with the X chromosome, it is male-specific and haploid, and escapes from recombination. (le.ac.uk)
  • So, mom and dad each contribute 23 chromosomes-the haploid number-to their offspring. (apologeticspress.org)
  • They have the haploid number of chromosomes (23) because they are produced by meiosis, or reduction division. (experts123.com)