In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Any method used for determining the location of and relative distances between genes on a chromosome.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Actual loss of portion of a chromosome.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The alignment of CHROMOSOMES at homologous sequences.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Mapping of the KARYOTYPE of a cell.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Aberrant chromosomes with no ends, i.e., circular.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.
Structures within the CELL NUCLEUS of insect cells containing DNA.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
Structures which are contained in or part of CHROMOSOMES.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
The possession of a third chromosome of any one type in an otherwise diploid cell.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.
Genetic loci associated with a QUANTITATIVE TRAIT.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
An aberration in which an extra chromosome or a chromosomal segment is made.
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.
An individual having different alleles at one or more loci regarding a specific character.
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
Genotypic differences observed among individuals in a population.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
The process by which a DNA molecule is duplicated.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.
The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
The relationships of groups of organisms as reflected by their genetic makeup.
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Established cell cultures that have the potential to propagate indefinitely.
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Genes that are located on the X CHROMOSOME.
Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Genes that influence the PHENOTYPE only in the homozygous state.
The functional hereditary units of BACTERIA.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
An individual in which both alleles at a given locus are identical.
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
The degree of replication of the chromosome set in the karyotype.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
The genetic complement of a plant (PLANTS) as represented in its DNA.
Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA.
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
Deoxyribonucleic acid that makes up the genetic material of fungi.
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
DNA present in neoplastic tissue.
Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.
Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
A characteristic symptom complex.
The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.
Deoxyribonucleic acid that makes up the genetic material of plants.
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
Proteins found in any species of bacterium.
DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.
The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.
Genes that are located on the Y CHROMOSOME.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.
A form of GENE LIBRARY containing the complete DNA sequences present in the genome of a given organism. It contrasts with a cDNA library which contains only sequences utilized in protein coding (lacking introns).
The mechanisms by which the SEX of an individual's GONADS are fixed.
Deletion of sequences of nucleic acids from the genetic material of an individual.

Interactions between Tat and TAR and human immunodeficiency virus replication are facilitated by human cyclin T1 but not cyclins T2a or T2b. (1/852)

The transcriptional transactivator (Tat) from the human immunodeficiency virus (HIV) does not function efficiently in Chinese hamster ovary (CHO) cells. Only somatic cell hybrids between CHO and human cells and CHO cells containing human chromosome 12 (CHO12) support high levels of Tat transactivation. This restriction was mapped to interactions between Tat and TAR. Recently, human cyclin T1 was found to increase the binding of Tat to TAR and levels of Tat transactivation in rodent cells. By combining individually with CDK9, cyclin T1 or related cyclins T2a and T2b form distinct positive transcription elongation factor b (P-TEFb) complexes. In this report, we found that of these three cyclins, only cyclin T1 is encoded on human chromosome 12 and is responsible for its effects in CHO cells. Moreover, only human cyclin T1, not mouse cyclin T1 or human cyclins T2a or T2b, supported interactions between Tat and TAR in vitro. Finally, after introducing appropriate receptors and human cyclin T1 into CHO cells, they became permissive for infection by and replication of HIV.  (+info)

Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1-2 polymorphism and contribution to founder effect. (2/852)

Spinocerebellar ataxia type 2 is a familial spinocerebellar ataxia with autosomal dominant inheritance. The gene responsible was recently cloned and this disorder was found to be the result of a CAG expansion in its open reading frame. We analysed 13 SCA2 patients in seven unrelated families in Gunma Prefecture, Japan. In four of the seven families, we detected CCG or CCGCCG interruptions in only the expanded alleles. Cosegregation of these polymorphisms with SCA2 patients was established within each family. Together with the results of haplotype analyses, we considered that at least two founders were present in our area and that these (CCG)1-2 polymorphisms may make analysis of founder effects easier. By sequencing analysis we found that although the number of the long CAG repeat varied in each subclone of expanded alleles, these polymorphisms did not change their configuration. This finding suggests that CCG or CCGCCG sequences are stable when surrounded by the long CAG repeat and a single CAG. Moreover, the presence of these polymorphisms may lead to miscounting the repeat size by conventional estimation using a size marker such as an M13 sequencing ladder. Therefore we should consider these polymorphisms and accurately determine the repeat size by sequencing.  (+info)

Unique forms of human and mouse nuclear receptor corepressor SMRT. (3/852)

Nuclear hormone receptors have been shown to repress transcription in the absence of ligand. This repression is mediated by a corepressor complex that contains the Sin3A protein and histone deacetylases (HDAC1 and 2). Studies by several groups demonstrate that this complex is recruited to nuclear receptors through the highly related corepressors SMRT (silencing mediator of retinoid acid and thyroid hormone receptor) and N-CoR (nuclear receptor corepressor). We describe here the cloning, characterization, and chromosomal mapping of forms of human and mouse SMRT that includes a 1,000-aa extension, which reveals striking homology to the amino terminus of N-CoR. Structure and function studies of wild-type and natural splicing variants suggest the presence of 3-4 amino terminal domains that repress in a cooperative as well as mechanistically distinct fashion.  (+info)

Structure and chromosomal assignment of the human lectin-like oxidized low-density-lipoprotein receptor-1 (LOX-1) gene. (4/852)

We have reported the cDNA cloning of a modified low-density-lipoprotein (LDL) receptor, designated lectin-like oxidized LDL receptor-1 (LOX-1), which is postulated to be involved in endothelial dysfunction and the pathogenesis of atherosclerosis. Here, we determined the organization of the human LOX-1 gene, including the 5'-regulatory region. The 5'-regulatory region contained several potential cis-regulatory elements, such as GATA-2 binding element, c-ets-1 binding element, 12-O-tetradecanoylphorbol 13-acetate-responsive element and shear-stress-responsive elements, which may mediate the endothelium-specific and inducible expression of LOX-1. The major transcription-initiation site was found to be located 29 nucleotides downstream of the TATA box and 61 nucleotides upstream from the translation-initiation codon. The minor initiation site was found to be 5 bp downstream from the major site. Most of the promoter activity of the LOX-1 gene was ascribed to the region (-150 to -90) containing the GC and CAAT boxes. The coding sequence was divided into 6 exons by 5 introns. The first 3 exons corresponded to the different functional domains of the protein (cytoplasmic, transmembrane and neck domains), and the residual 3 exons encoded the carbohydrate-recognition domain similar to the case of other C-type lectin genes. The LOX-1 gene was a single-copy gene and assigned to the p12.3-p13.2 region of chromosome 12. Since the locus for a familial hypertension has been mapped to the overlapping region, LOX-1 might be the gene responsible for the hypertension.  (+info)

Evaluation of trisomy 12 by fluorescence in situ hybridization in peripheral blood, bone marrow and lymph nodes of patients with B-cell chronic lymphocytic leukemia. (5/852)

BACKGROUND AND OBJECTIVE: Trisomy 12 is the most common numerical chromosomal aberration in patients with B-cell chronic lymphocytic leukemia (B-CLL). Fluorescence in situ hybridization (FISH) has improved the detection of this cytogenetic abnormality and has made detection possible in all phases of the cell cycle. The presence of the trisomy 12 positive (+12) cell population has generally been investigated in leukemic cells obtained from the peripheral blood of CLL patients. To ascertain whether trisomy 12 is expressed homogeneously in cells of different hemopoietic tissues, we applied FISH to lymph node, peripheral blood and bone marrow samples obtained simultaneously from 23 untreated B-CLL patients. DESIGN AND METHODS: Twenty-three newly diagnosed patients with B-CLL, 15 in stage B and 8 in stage C, were included in the present study. Peripheral blood smears, bone marrow aspirate smears and lymph node touch imprints were collected from each patient at diagnosis. Cytologic preparations were examined by light microscopy in order to assess the lymphocyte morphology. Immunophenotyping was performed by cytofluorimetric analysis of the peripheral blood, bone marrow and lymph node mononuclear cell suspensions. The diagnosis was supported in all cases by histologic findings in bone marrow biopsy and lymph node biopsy specimens. Fluorescence in situ hybridization was performed on smears of blood and aspirated bone-marrow and lymph node touch imprints obtained by fresh tissue apposition. RESULTS: In 6 of the 23 cases (26%) trisomy 12 was clearly present in all tissues examined. A comparative analysis of the three different hemopoietic tissues was performed. A higher percentage of leukemic CD5+CD23+ cells was detected in lymph nodes than in peripheral blood and bone marrow. A significantly higher proportion of trisomic cells was observed in lymph nodes samples than in peripheral blood or bone marrow smears of trisomy 12 positive CLL patients. INTERPRETATION AND CONCLUSIONS: Several previous reports show that only a proportion of malignant B-CLL cells carry trisomy 12 when analyzed by interphase FISH. The higher proportion of +12 cells in lymph nodes than in peripheral blood or bone marrow of CLL patients with trisomy 12 could reflect different cell distributions in different tissues, or lymph node specific tropism, or proliferative advantage in selected tissue. At present, the role of trisomy 12 in the pathogenesis of lymphoproliferative disorders is unclear.  (+info)

Association and linkage analysis of candidate chromosomal regions in multiple sclerosis: indication of disease genes in 12q23 and 7ptr-15. (6/852)

Four recent genome-wide screen studies in multiple sclerosis (MS) identified a number of candidate regions for susceptibility genes in addition to the HLA complex in 6p21. However, none of these regions provided formally significant evidence for genome-wide linkage. We have investigated such regions in 46 Swedish multiplex MS families, 28 singleton families, 190 sporadic MS patients and 148 normal controls by parametric and nonparametric linkage and association analysis. One microsatellite marker, in 12q23, provided evidence for association in addition to suggestive transmission distortion and slightly positive linkage. In addition, a marker in 7ptr-15 showed a significant transmission distortion as well as a highly significant score in affected pedigree member analysis, but not quite significant deviations in association analysis. One of three markers in 5p, a region implicated in all four previous studies, showed a weakly positive lod score, but no other evidence of importance. Markers in 2p23, 5q11-13, 6q25, 7q21-22, 11q21-23, 13q33-34, 16p13.2, 18p11.32-23, Xp21.3 provided little or no evidence of importance for MS. In summary, these data support the importance of genome-wide screens in the identification of new candidate loci in polygenic disorders.  (+info)

Structural organization and splice variants of the POLE1 gene encoding the catalytic subunit of human DNA polymerase epsilon. (7/852)

The catalytic subunit of human DNA polymerase epsilon, an enzyme involved in nuclear DNA replication and repair, is encoded by the POLE1 gene. This gene is composed of 51 exons spanning at least 97 kb of genomic DNA. It was found to encode three alternative mRNA splice variants that differ in their 5'-terminal sequences and in the N-termini of the predicted proteins. A CpG island covers the promoter region for the major transcript in HeLa cells. This promoter is TATA-less and contains several putative binding sites for transcription factors typical of S-phase-up-regulated and serum-responsive promoters. Potential promoter regions were also identified for the two other alternative transcripts. Interestingly, no nuclear polyadenylation signal sequence was detected in the 3'-untranslated region, although a poly(A) tail was present. These results suggest a complicated regulatory machinery for the expression of the human POLE1 gene, including three alternative transcripts expressed from three promoters.  (+info)

Pathogenesis of testicular germ cell tumours. (8/852)

Human germ cell tumours comprise a heterogeneous group of neoplasms. In the testis, three entities are distinguished, the teratomas-yolk sac tumours of the infantile testis, the seminomas and nonseminomas of adolescents and adults, and the spermatocytic seminomas. Studies on epidemiology, histology, clinical behaviour, and chromosomal constitution of these tumours support the concept of distinct entities derived from germ cells but each with a different pathogenesis. Either the teratomas of the infantile testis show no chromosomal aberrations, or display a pattern of over- and under-representation of (parts of) chromosomes as detected in the yolk sac tumours of the infantile testis. In contrast, the seminomas and nonseminomas reveal a consistent pattern of losses and gains, that is, chromosomes 11, 13 and 18, and 7, 8 and X, respectively, that is different from that found in the infantile testis teratomas and yolk sac tumours. The most consistent structural chromosomal abnormality is an isochromosome 12p. Tumours lacking i(12p) have other structural abnormalities of 12p, among them amplification of 12p11.2-p12.1. The pathogenetically relevant genes on 12p11.2-p12.1 are probably on a fragment of about 1.7 mb. Gain of 12p sequences may be related to invasive growth. Gain of chromosome 9 is the only consistent chromosomal anomaly of spermatocytic seminomas. Infantile teratomas and spermatocytic seminomas are benign tumours. Infantile yolk sac tumour is a malignant germ cell tumour. Seminomas and nonseminomas are malignant, and the most common cancer in young Caucasian males. The cure rate of seminomas and non-seminomas with radio- and chemotherapy is over 90%, which is higher than that of any other solid cancer in adults. In addition, the precursor lesions of these tumours can be treated readily, justifying efforts to develop means for early diagnosis. Finally, the pathogenetic relationship between seminomas and nonseminomas, and the available animal models for the three groups of testicular germ cell tumours are discussed.  (+info)

Web site dedicated to the Pallister-Killian syndrome, a meeting point, a collection of link and useful information, Il sito raccoglie materiale utile per le famiglie con persone affette dalla sindrome di Pallister-Killian.
Dr. Fricke responded: PKS is from a genet-. ic accident that leads to the fetus having usually 2 extra copies of genes on the short arm of Chromosome 12 in some cells of the body & the normal 2 copies in other cells, called mosaicism. It can impact all organ systems & cause profound Intellectual Disability, atypical facial features & abnormal hair growth pattern. See www.rarechromo.org for the PKS support page of the organization Unique.
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The ketone XIII, obtained by Friedel-Crafts reaction of toluene with homoveratroyl chloride, was converted by the Leuckart reaction to the formamido derivative IXb which was used as the starting product for the synthesis of amines IIIb-Vb. Reduction of the ketone XIII gave the alcohol XVI which was treated with hydrogen chloride and afforded the chloro compound XVII. Its substitution reactions with 1-methylpiperazine, 1-(2-hydroxyethyl)piperazine and 1-phenylpiperazine resulted in the piperazines VIb-VIIIb. Acylations of the amine IIIb with acetic anhydride and homoveratroyl chloride gave the amides Xb and XIb which, together with the formamide IXb, were subjected to the Bischler-Napieralski reaction. 3,4-Dihydroisoquinolines XXII-XXIV were obtained and reduced to the 1,2,3,4-tetrahydroisoquinolines XXVb-XXVIIb. Treatment of XXVIIb with formaldehyde afforded the berbine derivative XXVIII. Demethylation of the amine IIIb with hydrobromic acid resulted in the title compound IIIa. Similar ...
article{e4545f11-fcca-422e-8307-a31e151cdeb0, abstract = {To ascertain the epigenomic features, i.e., the methylation, non-coding RNA, and gene expression patterns, associated with gain of i(12p) in Pallister-Killian syndrome (PKS), we investigated single cell clones, harboring either disomy 12 or tetrasomy 12p, from a patient with PKS. The i(12p)-positive cells displayed a characteristic expression and methylation signature. Of all the genes on 12p, 13% were overexpressed, including the ATN1, COPS7A, and NECAP1 genes in 12p13.31, a region previously implicated in PKS. However, the median expression fold change (1.3) on 12p was lower than expected by tetrasomy 12p. Thus, partial dosage compensation occurs in cells with i(12p). The majority (89%) of the significantly deregulated genes were not situated on 12p, indicating that global perturbation of gene expression is a key pathogenetic event in PKS. Three genes-ATP6V1G1 in 9q32, GMPS in 3q25.31, and TBX5 in 12q24.21-exhibited concomitant ...
Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.. Most babies with Pallister-Killian mosaic syndrome are born with significant hypotonia, which can cause difficulty breathing and problems with feeding. Hypotonia also interferes with the normal development of motor skills such as sitting, standing, and walking. About 30 percent of affected individuals are ultimately able to walk without assistance. Additional developmental delays result from intellectual disability, which is usually severe to profound. Speech is often limited or absent in people with this condition.. Pallister-Killian mosaic syndrome is associated with a distinctive facial appearance that is often described as coarse. Characteristic ...
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In this article, we will share on a rare form of congenital cataract known as cerulean cataract.. Cerulean cataract (also known as blue-dot cataract) occurs where there are blue-white opacities in the lens cortex (middle layer of the lens). It can develop during childhood or occur at birth (congenital). The cause of cerulean cataract is due to mutation of several genes. It is of autosomal dominant inheritance (i.e. an affected individual has a copy of the mutant gene and a normal gene on a pair of non-sex chromosomes). The cataract can develop in 1 or both eyes and is progressive. Visual acuity is well-preserved, and surgery is usually not required before adult life.. Infants with cerulean cataract may be asymptomatic depending on the severity of the opacities. If severe, complications such as nystagmus (rapid involuntary movement of the eyes) and amblyopia (lazy eye) can develop. Both male and female can be equally affected. Family history of congenital cataract is one of the risk ...
TY - JOUR. T1 - The phenotypic spectrum of trisomy 2. T2 - Report of two new cases. AU - Mihci, Ercan. AU - Velagaleti, Gopalrao V.N.. AU - Ensenauer, Regina. AU - Babovic-Vuksanovic, Dusica. PY - 2009/10/1. Y1 - 2009/10/1. N2 - We describe two cases of trisomy 2. The first case is a child with mosaic trisomy 2 who presented with mental retardation, multiple congenital anomalies, and dysmorphic findings similar to Pallister-Killian syndrome. The second case was an acardiac and acranial fetus with complete trisomy 2. We review the phenotypic spectrum associated with trisomy 2. Clin Dysmorphol 18:201-204.. AB - We describe two cases of trisomy 2. The first case is a child with mosaic trisomy 2 who presented with mental retardation, multiple congenital anomalies, and dysmorphic findings similar to Pallister-Killian syndrome. The second case was an acardiac and acranial fetus with complete trisomy 2. We review the phenotypic spectrum associated with trisomy 2. Clin Dysmorphol 18:201-204.. KW - ...
Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p. Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including seizures, severe developmental delay, macrosomia at birth, deafness, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo−/hyper- pigmented streaks on the skin. Karyotypes obtained from cultured peripheral lymphocytes of 13 cases, who were diagnosed as PKS, were normal, while karyotypes obtained from cultured skin samples and buccal mucosa revealed the supernumerary mosaic i(12p). Mosaic karyotype was found in both fibroblast and buccal mucosa in 14 of 15 patients in our series,
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Tetrasomy for the short arm of chromosome 12 (Pallister-Killian syndrome) is an uncommon mosaic aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormalities or following karyotyping for maternal age and other causes. In this syndrome the chromosome abnormalities, isochromosome is present in amniocyte with a much greater percentage than fetal lymphocyte. The most consistent reported prenatal ultrasound findings for tetrasomy 12p include polyhydramnios with short femurs and a diaphragmatic hernia. We report a case identified by prenatal karyotyping diagnosis ...
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Strong evidence of linkage to late-onset Alzheimer disease (LOAD) has been observed on chromosome 10, which implicates a wide region and at least one disease-susceptibility locus. Although significant associations with several biological candidate genes on chromosome 10 have been reported, these findings have not been consistently replicated, and they remain controversial. We performed a chromosome 10-specific association study with 1,412 gene-based single-nucleotide polymorphisms (SNPs), to identify susceptibility genes for developing LOAD. The scan included SNPs in 677 of 1,270 known or predicted genes; each gene contained one or more markers, about half (48%) of which represented putative functional mutations. In general, the initial testing was performed in a white case-control sample from the St. Louis area, with 419 LOAD cases and 377 age-matched controls. Markers that showed significant association in the exploratory analysis were followed up in several other white case-control sample sets to
Daw EW, Payami H, Nemens EJ, Nochlin D, Bird TD, Schellenberg GD, Wijsman EM. The number of trait loci in late-onset Alzheimer disease ...
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CTNS is located on the p arm of human chromosome 17, at position 13.2.[5] It spans base pairs 3,636,468 and 3,661,542, and ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... "American Journal of Human Genetics. 63 (5): 1352-62. doi:10.1086/302118. PMC 1377545. PMID 9792862.. ... "American Journal of Human Genetics. 69 (4): 712-21. doi:10.1086/323484. PMC 1226058. PMID 11505338.. ...
Nuclear DNA in a human consists of 22 pairs of autosomes and two sex chromosomes. The 22 pairs of autosomes are derived half ... Evolution & Human Behavior 24: 99-112. Full text. *Knight, C. 2008. Early human kinship was matrilineal. In N. J. Allen, H. ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ... "Hierarchical patterns of global human Y-chromosome diversity". Mol Biol Evol. 18 (7): 1189-203. doi:10.1093/oxfordjournals. ...
"Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector ... Cosmid End-sequence profiling Fosmid Human artificial chromosome Yeast artificial chromosome O'Connor M, Peifer M, Bender W ( ... BACs can also be utilized to detect genes or large sequences of interest and then used to map them onto the human chromosome ... "Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the ...
The COX14 gene is located on the q arm of chromosome 12 at position 13.12 and it spans 8,476 base pairs. The COX14 gene ... Cytochrome c oxidase assembly factor COX14 is a protein that in humans is encoded by the COX14 gene. This gene encodes a small ... The knockdown of the protein COX14 involving small interfering RNA in regular human fibroblast has been shown to result in a ... "COX14 - Cytochrome c oxidase assembly protein COX14 - Homo sapiens (Human) - COX14 gene & protein". Retrieved 2018-08-07. This ...
The mouse has approximately 2.7 billion base pairs and 20 chromosomes. They can also be manipulated in ways that are illegal ... Humans have eaten mice since prehistoric times and still eat them as a delicacy throughout eastern Zambia and northern Malawi, ... Mice are generally very docile if raised from birth and given sufficient human contact. However, certain strains have been ... Mice are no longer routinely consumed by humans elsewhere. However in Victorian Britain, fried mice were still given to ...
Somatic pairing of homologous chromosomes is similar to pre- and early meiotic pairing (see article: Homologous chromosome#In ... anti-pairing' genes (of which 2 and 1 were already known, respectively), many of which have human orthologs. An earlier RNAi ... Metz, Charles W. (1916). "Chromosome studies on the Diptera. II. The paired association of chromosomes in the Diptera, and its ... Fung, Jennifer C.; Marshall, Wallace F.; Dernburg, Abby; Agard, David A.; Sedat, John W. (1998). "Homologous Chromosome Pairing ...
As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ... Number of homologous pairs[edit]. The introduction states: a typical human somatic cell contains [...] 23 homologous chromosome ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ...
Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. ... it appears that XY pairing and recombination occur normally in 47,XYY, the extra Y chromosome being lost during spermatogenesis ... and found an increased rate of minor criminal convictions for property crimes among sixteen XXY and twelve XYY men may be ... In the wake of the establishment of the normal number of human chromosomes, 47,XYY was the last of the common sex chromosome ...
In 2007, a study reported a case of a pair of living twins, which shared an identical set of maternal chromosomes, while each ... The human twin birth rate in the United States rose 76% from 1980 through 2009, from 9.4 to 16.7 twin sets (18.8 to 33.3 twins ... if a pair of monozygotic twins reproduces with another pair or with the same person), rather than first cousins. Identical ... One such pairing was born in London in 1993 to a white mother and Caribbean father. Among monozygotic twins, in extremely rare ...
Karyotype of a human being, showing 22 pair of autosomal chromosomes and both the XX female and the XY male possibilities for ... Stebbins, G.L. (1950). "Chapter XII: The Karyotype". Variation and evolution in plants. Columbia University Press.. ... As other non-human extant hominidae have 48 chromosomes it is believed that the human chromosome 2 is the end result of the ... Males have XY sex chromosomes and females have XX sex chromosomes. The sex chromosomes are the largest chromosomes and ...
Human Y chromosomeEdit. In humans, the Y chromosome spans about 58 million base pairs (the building blocks of DNA) and ... Stevens proposed that chromosomes always existed in pairs and that the Y chromosome was the pair of the X chromosome discovered ... Human Y-chromosome DNA haplogroup. The human Y chromosome is normally unable to recombine with the X chromosome, except for ... The DNA in the human Y chromosome is composed of about 59 million base pairs.[5] The Y chromosome is passed only from father to ...
In humans, FAM166B has 10 transcript variants, which are all spliced. FAM166B transcript variant 1 is 1,092 bp in length and ... The FAM166B gene is located on the short arm of chromosome 9 at 9p13.3 on the minus strand. The genomic sequence spans 2,069 ... base pairs from 35563899 to 35561830. Gene neighbors are RUSC2, RPS29P17, and TESK1. FAM166B is expressed 0.5 times higher than ... It is known to have a higher than normal proline composition compared to other human proteins at 12.4%. The protein has a ...
Thus, in humans 2n = 46. In the sex cells the chromosome number is n (humans: n = 23).[2] ... The chromosomes. 6th ed, Chapman & Hall, London. p28 *↑ Stebbins G.L. 1950. Variation and evolution in plants. Chapter XII: The ... The chromosomes are depicted (by rearranging a microphotograph) in a standard format known as a karyogram or idiogram: in pairs ... So, in normal diploid organisms, chromosomes are present in two copies. There may, or may not, be sex chromosomes. Polyploid ...
Y chromosome (Y-DNA) testingEdit. The Y-Chromosome is one of the 23rd pair of human chromosomes. Only males have a Y-chromosome ... Autosomal DNA is contained in the 22 pairs of chromosomes not involved in determining a person's sex.[26] Autosomal DNA ... The mitochondrion is a component of a human cell, and contains its own DNA. Mitochondrial DNA usually has 16,569 base pairs ( ... X-chromosome DNA testingEdit. The X-chromosome SNP results are often included in Autosomal DNA tests. Both males and females ...
For example, in the human genome, which has a 42% GC content[3], a pair of nucleotides consisting of cytosine followed by ... Based on an extensive search on the complete sequences of human chromosomes 21 and 22, DNA regions greater than 500 bp were ... "Comprehensive analysis of CpG islands in human chromosomes 21 and 22". Proc Natl Acad Sci USA. 99 (6): 3740-5. doi:10.1073/pnas ... In humans, about 70% of promoters located near the transcription start site of a gene (proximal promoters) contain a CpG island ...
This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.. *v ... paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.[5][6][7] ... maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics. 40 (1): 108-13. doi:10.1006/geno.1996.4558. PMID ... "Identification of PITX1 as a TERT suppressor gene located on human chromosome 5". Molecular and Cellular Biology. 31 (8): 1624- ...
... is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome, as they ... "Chromosome 9: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 9: ... Gilbert F, Kauff N (2001). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 9". Genet Test. 5 (2): ... "Chromosome 9". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 9". Human Genome Project Information Archive 1990- ...
2004). „) A census of human cancer genes. Nat Rev Cancer. 4:177-183. doi: 10.1038/nrc1299".. Mentenanță CS1: Nume multiple: ... Ye CJ, Liu G, Bremer SW, Heng HHQ (2007). „The dynamics of cancer chromosomes and genomes. Cytogenet Genome Res. 118 (2-4): 237 ... 2010). „The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature 465 (7297): 473-7. doi: ... 2007). „Patterns of somatic mutation in human cancer genomes. Nature, 446(7132): 153-158".. Mentenanță CS1: Nume multiple: ...
U1 snRNP is the initiator of spliceosomal activity in the cell by base pairing with the 5′ splice site of the pre-mRNA. In the ... However, U1 snRNP's abundance in human cells is far greater than that of the other snRNPs. Through U1 snRNA gene knockdown in ... The syndrome has been linked to the deletion of a region of paternal chromosome 15 that is not expressed on the maternal ... Thus, U1 snRNA-pre-mRNA base pairing was shown to protect pre-mRNA from polyadenylation as well as premature cleavage. This ...
Its genome consists of two circular chromosomes, one 2.65 million base pairs long and the other 412,000 base pairs long, as ... Some lines of investigation are focused on the application of D. radiodurans antioxidant systems in human cells to prevent ROS ... They translated the song "It's a Small World" into a series of DNA segments 150 base pairs long, inserted these into the ... It usually repairs breaks in its chromosomes within 12-24 hours by a 2-step process. First, D. radiodurans reconnects some ...
... was mapped to human chromosome 12: 26,120,026-26-125-127 reverse strand and has a total length of 5,101 base pairs.[16] ... BHLHE41-001 contains 5 coding exons, has a transcript length of 3,837 base pairs, and encodes the 482 amino acid BHLHE41 ... The gene is also mapped to 6 G2-G3 on the mouse chromosome, and 4q43 distal-q4 on the rat chromosome respectively.[13] BHLHE41 ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ...
... was mapped to human chromosome 12: 26,120,026-26-125-127 reverse strand and has a total length of 5,101 base pairs.[16] ... BHLHE41-001 contains 5 coding exons, has a transcript length of 3,837 base pairs, and encodes the 482 amino acid BHLHE41 ... The gene is also mapped to 6 G2-G3 on the mouse chromosome, and 4q43 distal-q4 on the rat chromosome respectively.[13] BHLHE41 ... Human BHLHE41 genome location and BHLHE41 gene details page in the UCSC Genome Browser. ...
... on human chromosome 6 has paralogy regions on chromosomes 1, 9 and 19. Much of the human genome seems to be assignable to ... In allopolyploids, the homologous chromosomes within each parental sub-genome should pair faithfully during meiosis, leading to ... Well-studied sets of paralogy regions include regions of human chromosome 2, 7, 12 and 17 containing Hox gene clusters, ... Homoeologous (also spelled homeologous) chromosomes or parts of chromosomes are those brought together following inter-species ...
The genotype of the male consists of a Y chromosome paired with an X chromosome. Female gender is determined by the absence of ... Redirected from Human male reproductive system). This article is about the reproductive system in human males. For the male ... This occurs when one X chromosome contains a segment of the Y chromosome, which was inserted into the X chromosome of the ... If this sperm cell contains an X chromosome it will coincide with the X chromosome of the ovum and a female child will develop ...
Paired box protein Pax-6, also known as aniridia type II protein (AN2) or oculorhombin, is a protein that in humans is encoded ... van Heyningen V, Little PF (1995). "Report of the fourth international workshop on human chromosome 11 mapping 1994". Cytogenet ... The characteristic paired DNA binding domain of Pax6 utilizes two DNA-binding domains, the paired domain (PD), and the paired- ... 6pax: CRYSTAL STRUCTURE OF THE HUMAN PAX-6 PAIRED DOMAIN-DNA COMPLEX REVEALS A GENERAL MODEL FOR PAX PROTEIN-DNA INTERACTIONS ...
It is located between the 2,855,336 - 2,851,656 base pairs. SbtB is part of the S8A family inside the SB Clan as classified by ... It's located in the circular chromosome of this kind of microorganisms, which contains 2984 coding genes and 3,297,891 bit/s ( ... "Carbon dioxide-sensing in organisms and its implications for human disease". Cellular and Molecular Life Sciences. 71 (5): 831- ... In terms of the aminoacid sequence (1224 aminoacids), the sbtB gene has the following motifs: The circular chromosome of this ...
Katoh M (August 2002). "Molecular cloning and characterization of OSR1 on human chromosome 2p24". International Journal of ... "Molecular analysis of odd-skipped, a zinc finger encoding segmentation gene with a novel pair-rule expression pattern". The ... Protein odd-skipped-related 1 is a transcription factor that in humans is encoded by the OSR1 gene.[5][6][7] The OSR1 and OSR2 ... A variant human OSR1 allele which does not produce a functional transcript and found in 6% of Caucasian populations, reduces ...
It can also occur during mitosis but at a much lower frequency because the chromosomes do not pair in a regular arrangement. ... and the human pathogens Candida albicans and Candida tropicalis. Parasexuality has become a useful tool for industrial ... Chiasma formation is common in meiosis, where two homologous chromosomes break and rejoin, leading to chromosomes that are ... so that one of the daughter nuclei has one chromosome too many (2n+1) and the other has one chromosome too few (2n-1). Such ...
In 2007, a study reported a case of a pair of living twins, which shared an identical set of maternal chromosomes, while each ... "Human Reproduction. 18 (2): 236-242. doi:10.1093/humrep/deg060. PMID 12571155. Retrieved 2008-02-29. Lay summary - "'Semi- ... Even if they happen to have the same chromosome profile, they will always have different genetic material on each chromosome, ... Mixed chromosome. x. x. x. x. x. x. x Superfecundation. x. x. Eggs are fertilized during different acts of intercourse. x. x. x ...
The first published description of the use of paired ends was in 1990[6] as part of the sequencing of the human HGPRT locus, ... From this map, a minimal number of fragments that cover the entire chromosome are selected for sequencing.[14] In this way, the ... For example, to complete the Human Genome Project, most of the human genome was sequenced at 12X or greater coverage; that is, ... Human Genome Sequencing Consortium, International (21 October 2004). "Finishing the euchromatic sequence of the human genome". ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
The institute is also the first develop a test to detect chromosome translocations in human embryos to increase the success ... 2009 First Paired Kidney Exchange in New Jersey Performed, Family Health Magazine, Spring/Summer 2006 - accessed July 11, 2009 ... Human cloning is a long way off, but bioengineered kids are already here, Washington Monthly, March 2002 - accessed July 11, ... The division performed the first paired kidney exchange in New Jersey at Saint Barnabas Medical Center in 2005. Over time, it ...
They are usually found in pairs (diplococci) and do not form spores and are nonmotile.[2] As a significant human pathogenic ... For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... The genome of S. pneumoniae is a closed, circular DNA structure that contains between 2.0 and 2.1 million base pairs depending ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ...
When adenine is deaminated, it becomes hypoxanthine, which can pair with cytosine. During replication, the cytosine will pair ... It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA).[21] ... Hypoxanthine can bind to cytosine, and when the XC base pair is ... Chloroplast DNAs are circular, and are typically 120,000-170,000 base pairs long.[4][7][8] They can have a contour length of ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene.[5] Presenilin-1 is one of the four ... Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH (September 2002). "Presenilin couples the paired ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ...
... genome of MAP strain K-10 was sequenced in 2005 and found to consist of a single circular chromosome of 4,829,781 base pairs, ... It has long been suspected as a causative agent in Crohn's disease in humans,[4][5] but studies have been unable to show ... Recent studies have shown that MAP present in milk can survive pasteurization, which has raised human health concerns due to ... It is the causative agent of Johne's disease, which affects ruminants such as cattle, and suspected causative agent in human ...
Sigurdsson S, Van Komen S, Petukhova G, Sung P (Nov 2002). "Homologous DNA pairing by human recombination factors Rad51 and ... condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
... six homologous pairs). Five pairs are acrocentric chromosomes and one pair is metacentric. ... It is of uncertain origin[1]:160 and widely cultivated as a crop for human consumption. It is also used as a cover crop, the ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... V. faba has a diploid (2n) chromosome number of 12 ( ... might frown on human consumption. But in Liguria, a maritime ...
... even though the fox genome has 16 pairs of metacentric autosomes and the dog has 37 pairs of acrocentric autosomes.[10] ... These were foxes that were eager to have human contact. By the 10th generation 18 percent of fox pups were in this "elite" ... Using 320 microsatellites Trut and co-workers showed that all 16 fox autosomes and one X chromosome were covered, and that ... 12-37. Retrieved 3 March 2018.. *^ a b Kukekova, A.V.; Trut, L.N.; Oskina, I.N.; Kharlamova, A.V.; Shikhevich, S.G.; Kirkness, ...
... usually have a single circular chromosome,[129] with as many as 5,751,492 base pairs in Methanosarcina acetivorans,[130 ... making up about one in ten of all the prokaryotes in the human gut.[197] In termites and in humans, these methanogens may in ... Circular chromosomes, similar translation and transcription to Eukarya. Circular chromosomes, unique translation and ... after the cell's chromosome is replicated and the two daughter chromosomes separate, the cell divides.[154] In the genus ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ... "Chromosome 16". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 16". Human Genome Project Information Archive ... Human chromosome 16 pair after G-banding.. One is from mother, one is from father. ...
... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ... is a transcription factor which activates histone gene transcription on chromosomes 1 and 6 of human cells. NPAT is also a ...
Genetically, there are 74 diploid chromosomes (36 pairs). Appearance[edit]. The crab-eating fox is predominantly greyish-brown ... its habitat is slowly shrinking due to human activity such as agriculture, as well as feral dogs' encroachment on its territory ... The adult female gives birth to one or two litters per year, and the breeding pair is monogamous. The pair ranges the plains ... It either hunts individually or lives in pairs; it eats crabs, lizards and different flying animals. It is easy to domesticate ...
Likewise, gray wolf Y-chromosomes have also been found in a few individual male Texan coyotes.[11] This study suggested that ... By late 2012, it was estimated that there were at least 75 wolves and four breeding pairs living in the recovery areas, with 27 ... The Mexican wolf persisted longer in Mexico, as human settlement, ranching and predator removal came later than in the ... A pair of Mexican wolves with pups at Sevilleta Wolf Management Facility in Socorro, New Mexico ...
Twelve tǒng are referred to as being one jiàn (件), although some producers/factories vary how many tǒng equal one jiàn. A jiàn ... Pu'er with chrysanthemum is the most common pairing, and referred as guk pou or guk bou (菊普; Cantonese Yale: guk1 pou2; pinyin ... Larger specimens of this shape are sometimes called "human-head tea" (人頭茶), due in part to its size and shape, and because in ... This notion has recently been refuted through a systematic chromosome analysis of the species attributed to many East Asian ...
Crosland, M.W.J., Crozier, R.H. Myrmecia pilosula, an ant with only one pair of chromosomes. Science. 1986, 231 (4743): 1278. ... Ijdo, J. W., Baldini, A., Ward, D. C., Reeders, S. T., & Wells, R. A. Origin of human chromosome 2: an ancestral telomere- ... 選擇可以作用在基因而非個體的層級,即使降低個體的適應度,自私DNA仍然可以演化,造成基因組內部衝突。例子包括跳躍子、減數分裂驅動者(meiotic drivers)、殺手X染色體(killer X chromosomes)、自私粒線體(
Genes on human chromosome 11. *Genes on human chromosome 14. *Genes on human chromosome 20 ... In 1943, with the help of Arda Green, the pair illustrated that glycogen phosphorylase existed in either the a or b forms ... The cloning of the human liver glycogen phosphorylase (HLGP) revealed a new allosteric binding site near the subunit interface ... Goodsell DS (2001-12-01). "Glycogen Phosphorylase". Molecule of the Month. RCSB Protein Data Bank. Retrieved 2009-01-10.. ...
This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.. *v ... "Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for ... "AIDS Research and Human Retroviruses. 6 (3): 371-80. doi:10.1089/aid.1990.6.371. PMID 2187500.. ... Human GAA genome location and GAA gene details page in the UCSC Genome Browser. ...
HumansEdit. Humans are bilaterals and deuterostomes. In humans, the term embryo refers to the ball of dividing cells from the ... Pair-rule genes define 7 segments of the embryo within the confines of the second broad segment that was defined by the gap ... Thus, a fly whose chromosomes are mutant in both copies of the Bicoid gene but who is born from a mother carrying one normal ... As of today, human embryology is taught as a cornerstone subject in medical schools, as well as in biology and zoology programs ...
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ... Her C, Wu X, Griswold MD, Zhou F (Feb 2003). "Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor ... Räschle M, Dufner P, Marra G, Jiricny J (Jun 2002). "Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha ...
"A Y Chromosome Census of the British Isles" (PDF).. *^ Härke, Heinrich; Thomas, Mark G; Stumpf, Michael P H. "Integration ... earthsky.org/human-world/jawbone-is-earliest-evidence-of-modern-humans-in-europe ... The Acts of Union between the Kingdom of England and the Kingdom of Scotland were a pair of Parliamentary Acts passed by both ... Children younger than nine were not allowed to work and the work day of youth under the age of 18 was limited to twelve hours.[ ...
... chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered". Proc. ... 3.2) Paired box. PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) ... to the human c-myc oncogene; presence of a long inverted repeat ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... HMGB (1, 2, 3) • HNF (1A, 1B) • LEF1 • SOX (1, 2, 3, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14, 15, 18, 21) • SRY • SSRP1 • TCF (3, 4) ...
"Final report on the human rights situation of the Roma, Sinti and travellers in Europe". The European Commissioner for Human ... "Y CHROMOSOME SINGLE NUCLEOTIDE POLYMORPHISMS TYPING BY SNaPshot MINISEQUENCING" (PDF). Bjmg.edu.mk. Retrieved 20 December 2016. ... and art present romanticized narratives of mystical powers of fortune telling or irascible or passionate temper paired with an ... European Journal of Human Genetics. 9 (2): 97-104. doi:10.1038/sj.ejhg.5200597. PMID 11313742. Archived from the original (PDF) ...
Modern Human Origins, and Complex Disease Mapping, Annual Review of Genomics and Human Genetics" (pdf). 9. Retrieved December ... In the 2003 PBS programme African American Lives, Bishop T.D. Jakes had his DNA analyzed; his Y chromosome showed[dubious - ... Igbo women were paired with Coromantee (Akan) men to subdue the men because of the belief that the women were bound to their ... Institute for the Study of Human Issues.. *^ ". Chisholm, Hugh, ed. (1911). "Ibo". Encyclopædia Britannica. 14 (11th ed.). ...
... a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187-91. doi:10.1002/humu.22468. PMID ... Position (base pair): 180. Total size (base pairs): 366. Forward 5′→ 3′: aactcttgataaaccgtgctg. Reverse 5′→ 3′: ... a b c The Y Chromosome Consortium 2008 *^ a b c d e f g Cristofaro; et al. (2013). "Afghan Hindu Kush: Where Eurasian Sub- ... 2004). "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-48. doi:10.1007/s00439-003-1031-4. ...
"The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East". The American Journal of Human Genetics. 69 ... that overlies Druze and Cypriot samples but not samples from other Levantine populations or paired Diaspora host populations. ... refers to the scattering of all twelve tribes. ... Retrieved 2015-12-27.. *^ The Jews of India: A Story of Three ... "American Journal of Human Genetics. 86 (6): 850-9. doi:10.1016/j.ajhg.2010.04.015. PMC 3032072. PMID 20560205.. ...
Evidence for linkage to NIDDM was found with polymorphic loci that map to the long arms of human chromosomes 20 and 12 in ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ... Linkage of Genetic Markers on Human Chromosomes 20 and 12 to NIDDM in Caucasian Sib Pairs With a History of Diabetic ...
Chromosome Mapping * Chromosomes, Human, Pair 10 / genetics * Chromosomes, Human, Pair 12 / genetics ... Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2 Am J Hum Genet. 2003 Aug;73(2):323-35. doi: ...
MODY is genetically heterogeneous, associated with glucokinase mutations and a locus on chromosome 20q; in about 50% of cases, ... Chromosomes, Human, Pair 20 * DNA, Satellite / genetics * Diabetes Mellitus, Type 2 / genetics* ... A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q Nat Genet. 1995 Apr;9(4):418-23. doi: 10.1038/ ... The disease was estimated to be linked to this chromosome region in approximately 50% of families in a heterogeneity analysis. ...
... base pairs) and represents between 4 and 4.5 percent of the total DNA in cells. Learn about health implications of genetic ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 12, one copy inherited from ... Gilbert F, Kauff N. Disease genes and chromosomes: disease maps of the human genome.Chromosome 12. Genet Test. 2000;4(3):319-33 ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...
Although most chromosomes are found in the nucleus of a cell, some are also found in the cells mitochondria. These organelles ... A normal human cell has 23 pairs of chromosomes. Half of them were passed along by the mother and half by the father when the ... The number of chromosomes varies among types of organisms. For instance, a fruit fly has only four pairs of chromosomes while a ... A: The threadlike structures found in a nucleus are called chromosomes. Chromosomes are found in all of the bodys cells except ...
Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic Linkage Humans Phenotype ... Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Female Finland Genetic markers Genetic ... Chromosomes, Human, Pair 9 - genetics Cohort Studies DNA Mutational Analysis De Lange Syndrome - genetics Female Humans Male ... Chromosome Mapping Chromosomes, Human, Pair 9 -
Chromosomes,Human,Pair 12. Subjects:. Q Science , QH Natural history , QH301 Biology. Q Science , QH Natural history , QH426 ... DSH was mapped to chromosome 1q21.3, and mutations in the gene ADAR (DSRAD) were identified in Japanese, Chinese and Taiwanese ... A second locus for dyschromatosis was mapped on chromosome 6q24.2-q25.2 in two Chinese families initially reported to be ... After excluding mutations in ADAR and linkage to the candidate regions on chromosomes 1 and 6, we performed an single ...
"Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector ... Cosmid End-sequence profiling Fosmid Human artificial chromosome Yeast artificial chromosome OConnor M, Peifer M, Bender W ( ... BACs can also be utilized to detect genes or large sequences of interest and then used to map them onto the human chromosome ... "Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the ...
Humans have 46 chromosomes arranged into 23 pairs. Changes in either the total number of chromosomes or their shape and size ( ... Humans have 46 chromosomes arranged into 23 pairs. Chromosomes contain the genetic information necessary to direct the ... The first 22 pairs of chromosomes are the same in males and females. The remaining two chromosomes are called the sex ... The first 22 pairs of chromosomes are the same in males and females. The remaining two chromosomes are called the sex ...
image2 = Human male karyotpe high resolution - Chromosome 17.png , caption2 = Chromosome 17 pair,br/> in human male [[karyogram ... Chromosome 17 (Human)}} [[Category:Chromosomes (human)]] [[Category:Genes on human chromosome 17,*]] Templates used on this ... Infobox chromosome , image = Human male karyotpe high resolution - Chromosome 17 cropped.png , caption = Human chromosome 17 ... Chromosome 17 is one of the 23 pairs of [[chromosome]]s in [[human]]s. People normally have two copies of this chromosome. ...
Infobox chromosome , image = Human male karyotpe high resolution - Chromosome 1 cropped.png , caption = Human chromosome 1 pair ... Chromosome 01 (Human)}} [[Category:Chromosomes (human),Chromosome 01]] [[Category:Genes on human chromosome 1,*]] Templates ... image2 = Human male karyotpe high resolution - Chromosome 1.png , caption2 = Chromosome 1 pair ,br/>in human male [[karyogram ... Chromosome 1 is the designation for the largest [[human chromosome]]. Humans have two copies of chromosome 1, as they do ...
Chromosome Mapping. genetics. Chromosomes, Human, Pair 12. genetics. Chromosomes, Human, Pair 20. genetics. ... House-dust mite sensitivity (Dpter) exceeded the empirical threshold for significant linkage at 102 cM on chromosome 20q13, ... and airway obstruction to chromosome 20q13 is unlikely to be due to chance and may result from a quantitative trait locus in ... P values applied to a genome scan of multiple asthma traits identifies a new region of significant linkage on chromosome 20q13. ...
Chromosome Mapping; Chromosomes, Human, Pair 12; DNA, Complementary; Electrophoresis, Polyacrylamide Gel; Fibroblast Growth ... Chromosome Mapping; Chromosomes, Human, Pair 12; DNA, Complementary; Electrophoresis, Polyacrylamide Gel; Fibroblast Growth ... Chromosome Mapping; Chromosomes, Human, Pair 12; DNA, Complementary; Electrophoresis, Polyacrylamide Gel; Fibroblast Growth ... Human FGF-23 gene was localized on the chromosome 12p13 and found to be tandem linked (within 5.5 kb) to human FGF-6 gene. The ...
Humans have 23 pairs of chromosomes made of the inherited genetic chemical deoxyribonucleic acid (DNA). The CF gene is found on ... Scientists dont know exactly why the CF gene evolved in humans, but they have some evidence to show that it helped to protect ... chromosome number 7. It takes two copies of a CF gene - one inherited from each parent - for a child to show symptoms of CF. ... Scientists estimate that about 12 million Americans are currently CF carriers. If two CF carriers have a child, there is a 1 in ...
"The great apes have 24 pairs of chromosomes whereas humans have 23. This difference is caused by a fusion of two acrocentric ... XI and XII (sometimes called LI, LII and LIII) were discovered at Locus L in 1936. They are thought to belong to an adult man, ... They compared parts of the Neanderthal genome with pairs of modern humans. While the European and Asian pairs had similar ... "Genetic history of indigenous peoples of the Americas primarily focus on Human Y-chromosome DNA haplogroups and Human ...
Have a look at the Human Genome Poster. The whole discussion was whether the sex chromosomes form a pair! So far no one has ... a pair of chromatids equals a chromosome and not a pair equals a chromosomes. second mistake. 22 pairs of chromosomes are there ... The last 23d pair is made of sex chromosomes (X+Y or X+X depending on the individuals sex). 22 autosomal chromosome pairs, 1 ... A pair equals a chromosome. Each of these 22 pairs have a number from 1 to 22, add 2 sex chromosomes and the result is 24. ...
Normal human cells contain 23 chromosome pairs-one in each pair inherited from the mother, and one from the father. Every human ... Humans have 46 chromosomes arranged into 23 pairs. Chromosomes contain the genetic information necessary to direct the ... Chromosome- Chromosomes are the strands of genetic material in a cell that occur in nearly identical pairs. ... Chromosome -A microscopic thread-like structure found within each cell of the human body and consisting of a complex of ...
Humans have 46 chromosomes in each cell arranged in 23 pairs. Chromosomes are made up of smaller sections called genes, genes ... Biology - Chromosomes and genes revision - Carrick grammer - Revision. 546 words - 3 pages Biology revision Chromosomes and ... The causes of disease in Humans - Wymondham College - Biology Essay. 1092 words - 5 pages . Pathogens which are microorganisms ... Fuller Owens & Burgos Abstract Humans have been an essential factor in destroying ecosystems known to earth. Not only have they ...
We first examined XIST expression by quantitative RT-PCR using primer pairs that detect XIST-specific splice patterns. HUES1, ... 2002) An ectopic human XIST gene can induce chromosome inactivation in postdifferentiation human HT-1080 cells. Proc Natl Acad ... X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells. Susana S. Silva, Rebecca K. Rowntree, Shila ... X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells. Susana S. Silva, Rebecca K. Rowntree, Shila ...
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. ... Yes, they differ in a pair of chromosomes known as the sex chromosomes. Females have two X chromosomes in their cells, while ... The only human cells that do not contain pairs of chromosomes are reproductive cells, or gametes, which carry just one copy of ...
The normal human karyotype contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes. Normal karyotypes for ... The chromosomes are depicted (by rearranging a microphotograph) in a standard format known as a karyogram: in pairs, ordered by ... Chromosome Stability. Chromosome stability of cell cultures has been detected by means of the karyotipe analyses. The karyotype ... Characterization of human adult stem-cell populations isolated from visceral and subcutaneous adipose tissue. FASEB J 2009, 23 ...
... similarity of DNA between chimp and humans is incorrect. ... Humans have 23 pairs of chromosomes while chimpanzees have 24. ... While 18 pairs of chromosomes are virtually identical, chromosomes 4, 9 and 12 show evidence of being remodeled.5 In other ... Evolutionary scientists believe that one of the human chromosomes has been formed through the fusion of two small chromosomes ... The Y chromosome in particular is of a different size and has many markers that do not line up between the human and chimpanzee ...
He hopes to use ELG1, which naturally marks damaged regions of DNA, to zoom in on the sites on each human chromosome that are ... often affecting just one or two of the approximately three billion base pairs in the human genome. At NHGRI, Dr. Myung focuses ... But in one of the cells is a glowing green chunk- part of a chromosome. "That could be a broken piece of chromosome, a type of ... Exploring genomes - frequently human, but often mouse and yeast genomes as well - fills his day as a National Human Genome ...
Polyploidy is a condition in which an organism has more than two sets of chromosomes. It is found naturally in several types of ... A single set of chromosomes is known as a haploid set, while a pair is known as diploid. Many organisms, including humans, are ... Coffee plants, for example, tend to have chromosomes in multiples of 11, with 22, 44, and 66 chromosomes documented in various ... there is an extra copy of an entire set of chromosomes. In humans, being polyploid is usually incompatible with life; a ...
The analysis revealed a single homozygous region on chromosome 12p12.1-12p11.22 in all 5 affected individuals (Figure 1A). The ... A custom enrichment design covering 7M base pairs (NimbleGen Sequence Capture Microarrays; Roche) was used to enrich for the ... Abolished InsP3R2 function inhibits sweat secretion in both humans and mice. Joakim Klar,1 Chihiro Hisatsune,2 Shahid M. Baig,3 ... The human phenotype was modeled in the Itpr2-/- mice, albeit with a milder phenotype corresponding to hypohidrosis. Because ...
In humans, that means 46 chromosomes pair off into 23, but in the nematode, 12 chromosomes pair off into 6. ... This involves the pairing, or synapsis, of homologous chromosomes in which the chromosome from the mother pairs with the ... the pairing of homologous chromosomes. In early meiosis, the chromosomes attach by their pairing centers to proteins on the ... until each chromosome encounters its homolog. Once a chromosome finds its mate and pairs up, the paired homologs remain ...
In the human body nearly two trillion cells divide each day. There are 23 pairs of chromosomes per cell or 46 chromosomes. ... Thus, this information flow controls both the spacing and the number of DNA exchanges between paired chromosomes. ... This work on the dynamics of chromosome-chromosome interactions is a great example of the value of basic research. Errors in ... the two paired partner chromosomes perfectly aligned. This is not just the familiar DNA double helix. This is a double helix ...
Study The Human Genome and Karyotype flashcards from Joel Glotfelty ... Characterized as having a normal number of chromosomes: 22 pairs of autosomes and one pair of sex chromosomes ... How many base pairs of DNA do humans have in each somatic cell of our bodies? ... associated with chromosomes. It is inherited solely from the mother in humans ...
Chromosomes, Human, Pair 12 Medicine & Life Sciences * Intervertebral Disc Degeneration Medicine & Life Sciences ... GWA using the Illumina CanineHD BeadChip identified a locus on chromosome 12 from 36.8 to 38.6 Mb with 36 markers reaching ... GWA using the Illumina CanineHD BeadChip identified a locus on chromosome 12 from 36.8 to 38.6 Mb with 36 markers reaching ... GWA using the Illumina CanineHD BeadChip identified a locus on chromosome 12 from 36.8 to 38.6 Mb with 36 markers reaching ...
Every chromosome pair had a least one rearrangement. No normal X chromosomes were observed and Y chromosomes were absent by QM ... This is a hyper-triploid human cell line with a modal chromosome number of 75. Homogeneously staining regions and dicentric ... No normal X chromosomes were observed and Y chromosomes were absent by QM staining. Normal copies of chromosomes 2,6,11,13,16 ... a chromosome break in 3/30, a chromatid break in 5/30, a ring chromosome in 1/30, and double minutes in 11/30 (1-5 copies). ...
  • The most common translocation that causes this condition fuses part of the PDGFRB gene from chromosome 5 with part of the ETV6 gene from chromosome 12, written as t(5;12)(q31-33;p13). (medlineplus.gov)
  • DSH was mapped to chromosome 1q21.3, and mutations in the gene ADAR (DSRAD) were identified in Japanese, Chinese and Taiwanese families with autosomal dominant DSH. (hud.ac.uk)
  • Chromosome 17 contains the [[Homeobox]] B gene cluster. (wikidoc.org)
  • Genes== === Number of genes === The following are some of the gene count estimates of human chromosome 17. (wikidoc.org)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikidoc.org)
  • Genes on human chromosome 1}} ===Number of genes=== The following are some of the gene count estimates of human chromosome 1. (wikidoc.org)
  • Fragile X syndrome is caused by a mutation in the FMR-1 gene, located on the X chromosome . (encyclopedia.com)
  • This gene is located on the X chromosome. (encyclopedia.com)
  • Since the FMR-1 gene is located on the X chromosome, males are more likely to develop symptoms than females. (encyclopedia.com)
  • A female's normal X chromosome may compensate for her chromosome with the fragile X gene mutation. (encyclopedia.com)
  • Human FGF-23 gene was localized on the chromosome 12p13 and found to be tandem linked (within 5.5 kb) to human FGF-6 gene. (stackexchange.com)
  • The CF gene is found on chromosome number 7. (kidshealth.org)
  • Scientists don't know exactly why the CF gene evolved in humans, but they have some evidence to show that it helped to protect earlier generations from the bacteria that cause cholera, a severe intestinal infection. (kidshealth.org)
  • 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)
  • A. The involved gene was on the Y chromosome. (coursehero.com)
  • D. The involved gene was on the X chromosome. (coursehero.com)
  • In humans, the gene coding sequence is 56,501 base pairs long, with an mRNA of 2,215 base pairs, and a protein sequence of 622 amino acids. (wikipedia.org)
  • The molecular weight of UPF0704 is 71,193 Da and the PI is 6.38 The CFAP206 gene is located at Chromosome 6 from 88119558-88173965(6q15). (wikipedia.org)
  • In humans, the c6orf165 gene produces 4 different transcripts, 2 of which form a protein product (one undergoes nonsense mediated decay ang the other is retained intron). (wikipedia.org)
  • This relatively gene-poor chromosome holds a special interest for researchers in neurodegenerative disease, as it contains the genes responsible for spinal motor atrophy (SMA). (alzforum.org)
  • This very long chromosome contains only 923 gene loci-of which 827 are known, 55 novel, and 41 putative-spread along its 177.7 million base pairs. (alzforum.org)
  • The 'desert regions' likely contain many long-range enhancers that influence gene expression, judging by the high degree of conservation of these regions between the human, chimp, rat, and even chicken genomes. (alzforum.org)
  • Researchers in SMA are focused on this chromosome because it contains the survival motor neuron (SMN1) gene, along with its less efficient sibling, SMN2. (alzforum.org)
  • There is a race going on to lower the cost human gene sequencing to a level of a comprehensive battery of blood tests. (slideshare.net)
  • Gene sequencing allows scientists to map a chromosome. (slideshare.net)
  • In mammals, the Y chromosome contains the gene SRY , which triggers male development. (wikipedia.org)
  • In mammals, the Y chromosome contains a gene, SRY , which triggers embryonic development as a male. (wikipedia.org)
  • A gene is a specific section of the long double-stranded helix of human DNA that provides the instructions for a specific function. (bellaonline.com)
  • The complex genetics of VWD involve a gene found on chromosome 12. (healthofchildren.com)
  • The gene spans ∼29 kb with 12 exons on chromosome 20q13.1-13.2 ( 9 ). (diabetesjournals.org)
  • 2010. Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. (answers.com)
  • There are estimated to be over 4000 human diseases caused by single gene defects. (prezi.com)
  • Types Multiple gene disorder Depending on which type of chromosome is afected, they can be classified in Autosomal Sexual When the disease is related onto a no sexual chromosome Dominant Recesive Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. (prezi.com)
  • Individual chromosomes snake in and out of these two compartments and when a given gene is activated, it moves from one to the other. (scienceblogs.com)
  • Haplotype analysis defined a 9.6 cM disease gene interval on chromosome 2 without overlap with the other identified loci. (elsevier.com)
  • Cannizzaro LA, Aronson MM, Thiesen HJ (1993) Human zinc finger gene ZNF 23 (KOX 16) maps to a zinc finger gene cluster on chromosome 16q22 and ZNF32 (KOX 30) to chromosome region 10q23-q24. (springer.com)
  • DNA methylation is a common epigenetic marker and plays important roles in the regulation of gene expression, genomic imprinting, X-chromosome inactivation, embryonic development, and cancer5. (ubc.ca)
  • In conclusion, we have identified a melanocyte-differentiation gene, C10orf11 , which when mutated causes autosomal-recessive albinism in humans. (zfin.org)
  • if it is large, it is liable to overlap with a defective gene on the normal chromosome. (coursehero.com)
  • Importantly, we show that this result holds for loci located on the same chromosome regardless of the genomic distance separating them, and the signal is stronger in gene-rich and open-chromatin regions. (biomedcentral.com)
  • Spatial proximity between genetic elements situated at distant positions along the genome or even on different chromosomes is known to be important for gene expression. (biomedcentral.com)
  • Chromosome 12 spans almost 134 million DNA building blocks (base pairs) and represents between 4 and 4.5 percent of the total DNA in cells. (medlineplus.gov)
  • Chimpanzees and other apes have about 23 kilobases (a kilobase is 1,000 base pairs of DNA) of repeats. (answersingenesis.org)
  • 1000 base pairs long. (answersingenesis.org)
  • Surprisingly, the indels added an additional 3.4 % of base pairs that were different. (answersingenesis.org)
  • Ultraviolet radiation inflicts fairly minor changes to DNA, often affecting just one or two of the approximately three billion base pairs in the human genome. (genome.gov)
  • The yeast genome contains just over 12 million base pairs of DNA packaged within 16 chromosomes. (genome.gov)
  • How many base pairs of DNA do humans have in each somatic cell of our bodies? (brainscape.com)
  • For example, the small genomes from bacteria have approximately 600,000 DNA base pairs (bps). (eufic.org)
  • The human genome has about 3 billion base pairs. (eufic.org)
  • The mouse has approximately 2.7 billion base pairs and 20 chromosomes. (wikipedia.org)
  • The genomic DNA is 54,407 base pairs long, while the longest mRNA that it produces is 2,215 bp long. (wikipedia.org)
  • The potato genome has 12 chromosomes with 840 million base pairs, about a quarter the size of the human genome. (ecnmag.com)
  • The DNA in the human Y chromosome is composed of about 59 million base pairs . (wikipedia.org)
  • The Plasmodium falciparum genome, which consists of 24 million base pairs of DNA is divided into 14 chromosomes- compared to 23 in the human genome. (sanger.ac.uk)
  • The profile or position-weight matrix ( 7 - 9 ), in which variation is modeled at each position in the binding site, independently of the neighboring base pairs, is more widely applicable. (pnas.org)
  • Up until now, centromeres, which are specialized structural components of chromosomes, have been represented in the reference by gaps of 3 million base pairs. (nature.com)
  • One study found that the published sequence for HCMV in the AD 169 strain lacks 929 base pairs affecting two genes (UL42 and UL43) that are nonessential for growth in culture [11]. (kenyon.edu)
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • For example, rearrangements (translocations) of genetic material between chromosome 12 and other chromosomes are often found in certain cancers of blood-forming cells (leukemias) and cancers of immune system cells (lymphomas). (medlineplus.gov)
  • Chromosomes are structures that carry an organism's DNA, which contains all of its genetic information. (reference.com)
  • These chromosomes consist of genetic material (DNA) needed for the production of proteins, which lead to growth, development, and physical/intellectual characteristics. (encyclopedia.com)
  • Humans have 23 pairs of chromosomes made of the inherited genetic chemical deoxyribonucleic acid (DNA) . (kidshealth.org)
  • In recent years, evolutionary biologists , geneticists and palaeoanthropologists have been reassessing the issues, many citing genetic and other evidence that early human kinship may have been matrilineal after all. (wikipedia.org)
  • A review by Gagneux and Varki 2 described a list of genetic differences between humans and the great apes. (answersingenesis.org)
  • The entire sequence of the human genome is expected to be completed by 2003 yet this will only signal the beginning of increased activities into identifying specific functions and interactions of genes in an effort to unlock the enormous potential of genetic information. (eufic.org)
  • 3 Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan. (jci.org)
  • Meiosis-the formation of egg and sperm cells-is a highly choreographed process that creates genetic diversity in all plants and animals, including humans, to make each of us unique. (veteranstoday.com)
  • This study suggests that a major locus on chromosome 12 harbors genetic variations affecting the development of intervertebral disc calcification in Dachshund. (dtu.dk)
  • Normally, the genetic information in a human cell comes in two copies distributed among 23 pairs of chromosomes. (eurekalert.org)
  • The computer program allowed researchers to more easily pool results of their work on chromosome segments to create a full genetic map. (ecnmag.com)
  • Newer research has suggested that there is approximately 96% genetic similarity between Humans and chimpanzees overall. (answers.com)
  • Genetic differences between humans and great apes. (answers.com)
  • A review by Gagneux and Varki2 described a list of genetic differences between humans and the great apes. (sciforums.com)
  • Human karyotype Genetic diseases composed of? (prezi.com)
  • Central dogma of molecular Duplication Transcription Translation Human Karyotype Genetic Most genetic disorders are quite rare and affect one person in every several thousands or millions. (prezi.com)
  • Definition A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. (prezi.com)
  • IVF workers have long suspected that some human conceptions carry a number of genetic mistakes. (genomenewsnetwork.org)
  • Prior approaches to pre-implantation genetic diagnosis have relied on fluorescent colored probes designed to seek out and stick to each normal chromosome. (genomenewsnetwork.org)
  • The research suggests that fragmentation-a common but not well-understood occurrence in the early stages of human development in which some of the cells in an embryo appear to break down into smaller particles-is often associated with a lethal loss or gain of genetic material in an embryo's cells. (medicalxpress.com)
  • The GRC, which works on human, mouse and zebrafish reference genomes, is "having to field a lot of questions from folks who want to know the minute they can have the assembly," says Deanna Church, a genomicist formerly at the US National Center for Biotechnology Information and who has, since this interview, moved to Personalis, a genetic testing and analysis company. (nature.com)
  • Women are superior than men from a genetic standpoint, because they operate with a pair of X chromosomes instead of having an XY pairing. (thecoolist.com)
  • Aubry M, Marineau C, Zhang FR, Zahed L, Figlewicz D, Delattre O, Thomas G, Jong P de, Julien JP, Rouleau GA (1992) Cloning of six new genes with zinc fingers motifs mapping to short and long arms of human acrocentric chromosomes 22 (p and q11.2). (springer.com)
  • Bray P, Lichter P, Thiesen HJ, Ward D, Dawid IB (1991) Characterization and mapping of human genes encoding zinc finger proteins. (springer.com)
  • By using homozygosity mapping of an inbred Faroese family, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. (zfin.org)
  • Translocations involving chromosome 12 are involved in a type of blood cell cancer called PDGFRB -associated chronic eosinophilic leukemia. (medlineplus.gov)
  • Recurrent chromosome translocations in liposarcoma. (harvard.edu)
  • Some cases, about 12% arise from translocations, which will be covered later. (coursehero.com)
  • Among the most common are translocations (top panel, left side) which may be reciprocal (a swap of chromosome material between non-homologous chromosomes) or Robertsonian (a fusion of two acrocentric chromosomes). (bmj.com)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 12. (medlineplus.gov)
  • Although Pallister-Killian mosaic syndrome is usually caused by an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases. (medlineplus.gov)
  • What is the chromosomal make-up of humans? (brainscape.com)
  • 1 The Philadelphia chromosome is defined as translocation of chromosome 9 and 22, 2 and this structural chromosomal change provided new insight into the pathogenesis of leukaemia. (bmj.com)
  • Conditioning on the probands' rs1884614 genotype suggested that the chromosomal region identified by the htSNP accounted for the linkage signal on chromosome 20q in families in which the proband carried at least one risk allele. (diabetesjournals.org)
  • loss of chromosomal material Breaks in chromosomes can result from a variety of factors, including X-rays or stray cosmic radiation. (coursehero.com)
  • Inversions (top panel, right side) are where the normal order of genomic material within a chromosome is altered by the abnormal repair of chromosomal breakpoints (block arrows and dotted lines). (bmj.com)
  • The work was carried out in the UK at the Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, which also carried out one-third of the human genome sequencing programme , and in the USA at The Institute for Genomic Research and Stanford University . (sanger.ac.uk)
  • The PCR-based, comparative genomic hybridization also allows every chromosome to be assessed, whereas other methods can assess only a few. (genomenewsnetwork.org)
  • A genomic analysis indicated that NPC1-MELK arose from a complex interchromosomal translocation event involving chromosomes 18, 3, and 9 with 3 rearrangement points, and this was consistent with chromoplexy. (elsevier.com)
  • We refer to these human genomic regions as breakpoint pairs. (biomedcentral.com)
  • Structural (large scale abnormalities in genomic sequence of individual chromosomes). (bmj.com)
  • When these differences are counted, there is an additional 4 to 5% distinction between the human and chimpanzee genomes. (wikiversity.org)
  • The DNA sequences hold the secret of every life form from bacteria to humans, and science has now decoded these books of life called genomes. (eufic.org)
  • Now, Tomas Marques-Bonet from the University of Washington has reconstructed the evolutionary history of these duplications by comparing them across the genomes of four primates - humans, chimpanzees, orang-utans and macaques. (discovermagazine.com)
  • A large number of natural antisense transcripts have been identified in human and mouse genomes. (biomedcentral.com)
  • Our results suggest that with a modified protocol Affymetrix human, mouse and rat Exon arrays can be used as a routine method for genome-wide analysis of antisense transcription in these genomes. (biomedcentral.com)
  • Parts of the human and mouse genomes are represented with synteny blocks drawn as blue rectangles and the breakpoints are the regions between two consecutive synteny blocks. (biomedcentral.com)
  • 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)
  • What are the replicated forms of a chromosome joined together by the centromere and eventually separated during mitosis or meiosis II? (proprofs.com)
  • FISH probes revealed that in all cases, save the Hulk, the γ-chromosome was associated with the centromere of the X-chromosome. (ubc.ca)
  • If the inversions include the centromere of the chromosome they are called pericentric, if not, paracentric. (bmj.com)
  • The number of chromosomes varies among types of organisms. (reference.com)
  • BACs are often used to sequence the genome of organisms in genome projects, for example the Human Genome Project. (wikipedia.org)
  • 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)
  • triploid have three, tetraploid have four, and so on, with as many as 12 sets of chromosomes being documented in some organisms. (wisegeek.com)
  • Some organisms have specifically evolved to have more than two sets of chromosomes, in which case being diploid would be an abnormality. (wisegeek.com)
  • 12.20 Connection: Could GM organisms harm human health or the environment? (slideserve.com)
  • Different kinds of organisms have different numbers of chromosomes. (godandscience.org)
  • Nonparametric analysis of chromosome 12 inheritance data collected with the MODY3-linked markers D12S349 and D12S86 provides evidence for linkage to NIDDM with P values of 0.04 and 0.006, respectively, in Caucasian sib pairs using similar analyses. (diabetesjournals.org)
  • No evidence for linkage of MODY1 and MODY3 markers to NIDDM in African-American sib pairs was observed. (diabetesjournals.org)
  • We have studied 12 families in which MODY is unlinked to either glucokinase or chromosome 20q markers, and find significant evidence for linkage with microsatellite markers on chromosome 12q, most likely within a 7 centimogran interval bracketed by D12S86 and D12S342. (nih.gov)
  • Here, we examine the epigenetic stability of hESC using markers of X-chromosome inactivation (XCI), a whole-chromosome silencing phenomenon that compensates for the female's extra X-chromosome dosage relative to the male's ( 7 ). (pnas.org)
  • 5 In other words, the genes and markers on these chromosomes are not in the same order in the human and chimpanzee. (answersingenesis.org)
  • The Y chromosome in particular is of a different size and has many markers that do not line up between the human and chimpanzee. (answersingenesis.org)
  • GWA using the Illumina CanineHD BeadChip identified a locus on chromosome 12 from 36.8 to 38.6 Mb with 36 markers reaching genome-wide significance (P-genome = 0.00001-0.026). (dtu.dk)
  • At least 45 distinct derivative chromosomes were detected in most metaphases, including two large metacentric markers which are approximately 1.5 times longer than a normal A group chromosome. (atcc.org)
  • Significant linkage (Zmax=4.21, θ=O) was obtained with chromosome 2p 12 markers. (elsevier.com)
  • Although most chromosomes are found in the nucleus of a cell, some are also found in the cell's mitochondria. (reference.com)
  • The nucleus of a cell contains chromosomes, which are made from DNA, and the nucleolus. (reference.com)
  • The threadlike structures found in a nucleus are called chromosomes. (reference.com)
  • Chromosomes are thread-like structures located inside the nucleus of animal and plant cells. (genome.gov)
  • 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)
  • New findings by University of California, Berkeley, scientists show that the cell's cytoskeleton, which moves things around in the cell, plays a critical role, essentially reaching into the nucleus to bring chromosome pairs together in preparation for recombination and segregation. (healthcanal.com)
  • This simple model of a nucleus with only one pair of chromosomes illustrates the process of synapsis - the pairing of homologous chromosomes. (healthcanal.com)
  • The patches form a bridge between the chromosomes and the cytoskeleton outside the nucleus. (healthcanal.com)
  • At 2 metres in length, the human genome is longer than the average human but it needs to be packaged inside the nucleus of every one of our cells, each just 6 millionths of a metre long. (scienceblogs.com)
  • They lie one after the other on chromosome 14, but in the nucleus, they pair up differently. (scienceblogs.com)
  • Surprisingly, we found that two loci distant in the human genome but adjacent in the mouse genome are significantly more often observed in close proximity in the human nucleus than expected. (biomedcentral.com)
  • 2002. 'Construction and analysis of a Human-Chimpanzee Comparative Clone Map. (answers.com)
  • This frog can be distinguished from other frogs by the presence of paired dorsolateral folds, paired lumbar glands, and a spotted or barred upper lip, as well as its large size (Savage 2002). (amphibiaweb.org)
  • Adult males have paired elongated vocal slits and a single internal subgular vocal sac (Savage 2002). (amphibiaweb.org)
  • A second locus for dyschromatosis was mapped on chromosome 6q24.2-q25.2 in two Chinese families initially reported to be affected with DSH, but later suggested to have autosomal dominant DUH. (hud.ac.uk)
  • Under the assumption of autosomal recessive inheritance, we have identified a new locus for dyschromatosis on chromosome 12q21-q23 in this Arab family with a maximum logarithm of the odds (LOD) score of 3.4, spanning a distance of 18.9 cM. (hud.ac.uk)
  • Finally, we extended this method to show that the linkage of Dpter, atopy, BHR, FEV1, asthma, and airway obstruction to chromosome 20q13 is unlikely to be due to chance and may result from a quantitative trait locus in this region that affects several of these traits. (edu.au)
  • The X and Y chromosomes are thought to have evolved from a pair of identical chromosomes, [10] [11] termed autosomes , when an ancestral animal developed an allelic variation, a so-called "sex locus" - simply possessing this allele caused the organism to be male. (wikipedia.org)
  • The other locus of B2M was on chromosome 12 (rs3184504 at SH2B3, beta = 0.02, p value = 3.1 × 10 -8 ), which was previously implicated as an eGFR locus. (elsevier.com)
  • Additionally, somatic mutations may lead to an extra copy of chromosome 12 (trisomy 12) in cancer cells, specifically a type of leukemia called chronic lymphocytic leukemia. (medlineplus.gov)
  • After excluding mutations in ADAR and linkage to the candidate regions on chromosomes 1 and 6, we performed an single nucleotide polymorphism-based genome-wide scan for linkage with other loci. (hud.ac.uk)
  • X-linked dominant disorders are caused by mutations in genes on the X chromosome. (prezi.com)
  • Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (47,XXY) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity RECEssIVE X-linked recessive conditions are also caused by mutations in genes on the X chromosome. (prezi.com)
  • Y linked Y-linked disorders are caused by mutations on the Y chromosome. (prezi.com)
  • The technique is based on PCR, which is commonly used to identify mutations in cancer cells and was a cornerstone of the recent sequencing of the human genome. (genomenewsnetwork.org)
  • The bonobo ( Pan paniscus ), which is the close cousin of chimpanzees ( Pan troglodytes ), differs from humans to the same degree. (wikiversity.org)
  • Most importantly, chimpanzees, bonobos, and humans all show this same amount of difference from gorillas. (wikiversity.org)
  • Geneticists have come up with a variety of ways of calculating the percentages, which give different impressions about how similar chimpanzees and humans are. (wikiversity.org)
  • The 1.2% chimp-human distinction, for example, involves a measurement of only substitutions in the base building blocks of those genes that chimpanzees and humans share. (wikiversity.org)
  • No matter how the calculation is done, the big point still holds: humans, chimpanzees, and bonobos are more closely related to one another than either is to gorillas or any other primate. (wikiversity.org)
  • Humans have 23 pairs of chromosomes while chimpanzees have 24. (answersingenesis.org)
  • The Britten 9 study looked at 779 kilobase pairs to carefully examine differences between chimpanzees and humans. (answersingenesis.org)
  • With a 30% difference between humans and chimpanzees, the Y chromosome is one of the fastest-evolving parts of the human genome . (wikipedia.org)
  • What percentage of DNA do humans and chimpanzees share? (answers.com)
  • One Perspective Although it has commonly been stated in the past that humans and chimpanzees have 98.5% DNA similarity, this figure has recently been found to be incorrect. (answers.com)
  • Specifically, 18 of the chromosomes of humans are nearly identical to those of chimpanzees, the rest are very different (eg: chromosomes 4, 9, 12, 21, and y). (answers.com)
  • Some specific examples of differences include: 1) Humans have 23 pairs of chromosomes in total while chimpanzees have 24. (answers.com)
  • 2) Chimpanzees and other apes have telomeres about 23 kilobases long, whereas humans are completely unique among primates with much shorter telomeres only 10 kilobases long. (answers.com)
  • 3) The Y chromosome in chimpanzees is smaller than that of humans and only 60% of the genes are similar to those of the y chromosome of humans. (answers.com)
  • Human cells with a chromosome number different from 46 or with an abnormal complement of chromosomes that add up to 46 are aneuploid. (bmj.com)
  • Cells with more than a diploid but less than a tetraploid complement of chromosomes are referred to as having hyperdiploid aneuploidy. (bmj.com)
  • And their findings highlight the possible reason for all-too-common failures: Only three of 12 embryos sampled from couples undergoing IVF had the proper complement of chromosomes, according to the study by Dagan Wells and colleagues at University College Medical School, in London. (genomenewsnetwork.org)
  • That is, the first real approach to the understanding of the mechanism of heredity followed the discovery that practically the sole significant material which parents transmit to their offspring is the substance chromatin, the material of which all the wormlike chromosomes are made. (modernmechanix.com)
  • B. they are both present in pairs in all diploid cells. (coursehero.com)
  • Cells with less than a diploid chromosome content are referred to as having hypodiploid aneuploidy. (bmj.com)
  • The DNA index of a tumour indicates the degree of aneuploidy and it is calculated as modal number of chromosomes of the tumour population divided by the reference number of chromosomes of the normal diploid cells. (bmj.com)
  • The number of sex chromosomes is larger than the number of autosomes found, and these data represent the largest number of multiple sex chromosomes ever found among vertebrate species," the authors write in the study published recently in the journal Chromosoma . (gizmodo.com.au)
  • It also suggest this meiotic chain system may not be as rare as we think and should encourage scientists to explore sex chromosomes in a greater diversity of species. (gizmodo.com.au)
  • In humans, and all higher species, a DNA molecule consists of two strands of DNA, which wrap around one another to resemble a twisted ladder (Figure 1). (eufic.org)
  • D. the human genome is more complex than that of other species. (coursehero.com)
  • Is this the reason our species parted ways back in the dawn of human time? (alzforum.org)
  • Y is normally the sex-determining chromosome in many species , since it is the presence or absence of Y that typically determines the male or female sex of offspring produced in sexual reproduction . (wikipedia.org)
  • I think human people should get more deference than ones from other species, and that is how it generally happens in society. (sciforums.com)
  • Human species has in total 46 chromosomes, which are grouped into 23 pairs, each pair consisting of one chromosome from our mother and one from our father. (prezi.com)
  • The IVF failure rate for humans is an order of magnitude higher than for other species. (genomenewsnetwork.org)
  • As a species-specific disease, human cytomegalovirus can be found in all organs and bodily fluids, and therefore can lead to infection in developing infants (Figure 1). (kenyon.edu)
  • Once the chromosomes come together, a protein called dynein assesses whether or not the chromosomes are homologous and, if yes, allows formation of a zipper-like synptonemal complex between the two. (healthcanal.com)
  • This involves the pairing, or synapsis, of homologous chromosomes in which the chromosome from the mother pairs with the analogous chromosome from the father. (healthcanal.com)
  • The whole goal of the cell at this developmental stage is to pair up homologous chromosomes, to reinforce that pairing through formation of the synaptonemal complex, to make crossovers between homologs, and then to separate the pairs into different daughter cells," said Dernburg, who is also a researcher at Lawrence Berkeley National Laboratory (LBNL) and a faculty affiliate of the California Institute for Quantitative Biosciences (QB3). (healthcanal.com)
  • But the synaptonemal complex can form between non-homologous regions of the chromosomes, so pairing has to be coordinated with synapsis, and synapsis has to be regulated so it happens only between homologous chromosomes. (healthcanal.com)
  • Huebner K, Druck T, Croce CM, Thiesen HJ (1991) Twenty seven non overlapping zinc finger cDNAs from human T cells map to nine different chromosomes with apparent clustering. (springer.com)
  • Folding and intermingling of chromosomes has the potential of bringing close to each other loci that are very distant genomically or even on different chromosomes. (biomedcentral.com)
  • Cells normally have two copies of each chromosome, one inherited from each parent. (medlineplus.gov)
  • In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. (medlineplus.gov)
  • These cells have a total of four copies of all the genes on the p arm of chromosome 12. (medlineplus.gov)
  • Chromosomes are found in all of the body's cells except for red blood cells, which are. (reference.com)
  • It represents about 8% of the total DNA in human cells. (wikidoc.org)
  • Kolean clearly states that there are 2 X chromosomes in the female's cells at the beginning, add 22 pairs to this and you start with 24. (biology-online.org)
  • With the potential to give rise to all somatic cell types, human embryonic stem cells (hESC) have generated enormous interest as agents of cell replacement therapy. (pnas.org)
  • Human embryonic stem cells (hESCs) ( 1 ) can be maintained in culture in a self-renewing state and differentiate into all three embryonic germ layers ( 2 ). (pnas.org)
  • 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)
  • 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)
  • Indeed, stem cells seem to give the best chance for human tissue engineering, and particularly, mesenchymal stem cells (MSCs) represent a great tool in regenerative medicine because of their ability to differentiate into a variety of specialized cells in addition to their immuno-privileged characteristics [ 1 , 2 ]. (mdpi.com)
  • The movement is very obvious in the cells on the right side of this frame, which are actively pairing and synapsing their chromosomes, while the motion has slowed in the later-stage cells to the left, which have completed pairing and synapsis. (healthcanal.com)
  • The cells with only red staining have not yet entered meiosis, while the cells stained both red and green have begun or completed chromosome pairing and synapsis. (healthcanal.com)
  • Again, remember us humans: Most of our cells have 46 chromosomes (23 pairs). (gizmodo.com.au)
  • Sperm and egg cells are formed through a process called "meiosis", which results in those pairs separating. (gizmodo.com.au)
  • In males, the Xs and Ys align in an "astonishing stable ring-shaped meiotic chain" of chromosomes, which arranges itself so that when the cells divide, the correct gametes form with the correct chromosomes. (gizmodo.com.au)
  • On a grainy, gray backdrop, he points out the dark gray ovals marking the boundaries of three human cells. (genome.gov)
  • We are all made up of billions and billions of cells, but each has the information necessary to make a new entire human. (eufic.org)
  • In the human body nearly two trillion cells divide each day. (veteranstoday.com)
  • This is necessary for egg and sperm cells which combine to form the normal number of chromosomes (46) per cell. (veteranstoday.com)
  • Normal human somatic cells have 23 pairs of chromosomes. (bmj.com)
  • This imbalance of chromosome number may be in germ cells or somatic cells. (bmj.com)
  • However, cancer cells often gain or lose chromosomes. (eurekalert.org)
  • Human somatic cells contain how many chromosomes? (proprofs.com)
  • The process of meiosis produces four cells with nonidentical chromosomes. (proprofs.com)
  • After meiosis I, the two daughter cells would have _____chromosomes, and after meiosis II ______ chromosomes. (proprofs.com)
  • The modal chromosome number was 64, occurring in 30% of cells. (atcc.org)
  • The der(1)t(1;15) (q42;q13), der(19)t(3;19) (q12;q13), der(12)t(8;12) (q22;p13), and four other marker chromosomes were common to most cells. (atcc.org)
  • Noticeably in addition to three copies of X chromosomes, there were paired Xq+, and a single Xp+ in most cells. (atcc.org)
  • In normal human cells there are 23 pairs of chromosomes. (getrevising.co.uk)
  • What kind of cells would only have ½ the number of chromosomes? (powershow.com)
  • er(12)t(8;12) (q22;p13) and four other marker chromosomes were common to most cells. (sigmaaldrich.com)
  • To duplicate all this information stored in the chromosomes and to make it usefull cells use a process we call central dogma. (prezi.com)
  • In order to be used clinically, human embryonic stem cells must be differentiated prior to use in patients. (godandscience.org)
  • chromosomes 17q and 12 in cultured human embryonic stem cells,' Nature Biotechnology December 7, 2003, advance online publication. (godandscience.org)
  • Mouse 3T3 fibroblast cells are extensively used as feeder layers to enhance the cultivation of human keratinocyte in vitro. (google.es)
  • Treatment of normal cells with γ-radiation caused a dissociation of the γ- from the X-chromosome. (ubc.ca)
  • Applying this technique to human Jurkat cells, we identified antisense transcription at 2,088 exonic loci of 1,516 UniGene clusters. (biomedcentral.com)
  • Immunohistochemistry showed localization of C10orf11 in melanoblasts and melanocytes in human fetal tissue, but no localization was seen in retinal pigment epithelial cells. (zfin.org)
  • To date, most studies have been conducted on viral strains that are grown in cultures of human fibroblast (AD169 and Towne strain) and epithelial cells (Toledo strain). (kenyon.edu)
  • In the last decade, our view of genome organisation started to greatly change once again with the realisation that the spatial arrangement of eukaryotic chromosomes inside cells is not random. (biomedcentral.com)
  • Whole Genome Shotgun Sequencing (WGSS) was subsequently performed on the Hulk, from which chromosome γ was assembled and Bacterial Artificial Chromosomes (BAC) were created. (ubc.ca)
  • Bacterial artificial chromosomes (BACs) have been used to create frozen clones of HCMV DNA, allowing for some standardization of the highly variable HCMV virus [12]. (kenyon.edu)
  • The draft human genome was published by an international consortium in February 2001. (sanger.ac.uk)
  • According to evolutionarybiologist Robert May, President of Britain's Royal Society, "Weshare half our genes with the banana" (2001), but genes only makeup 2% of human DNA - the answer depends on what proportion of theremaining 98% is the same. (answers.com)
  • The din has faded from the 2001 celebration marking the end of the Human Genome Project. (nature.com)
  • Since the landmark completion of the human genome, the Sanger Institute has become a globally recognised leader in the field of genomics. (eurekalert.org)
  • Chromosome pairing in an individual homozygous for the deletion will appear normal although the chromosomes are shorter. (coursehero.com)
  • 5000 homozygous exonic variants on chromosome 19, suggestive of UPD19. (bmj.com)
  • Over time, genes that were beneficial for males and harmful to (or had no effect on) females either developed on the Y chromosome or were acquired through the process of translocation . (wikipedia.org)
  • For example, in humans, one type of leukemia and some other cancers are caused by defective chromosomes made up of joined pieces of broken chromosomes. (genome.gov)
  • Unless telomeres are present to protect and preserve the ends of the chromosome, exonucleases and cell division/DNA replication will lead to the loss of broken chromosomes. (coursehero.com)
  • The human genome contains some 3 billion chemical nucleotide bases. (bellaonline.com)
  • Bellefroid EJ, Lecocq PJ, Benhida Q, Poncelet DA, Belayew A, Martial JA (1989) The human genome contains hundreds of genes encoding zinc finger protein of the Krüppel type. (springer.com)
  • Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. (medlineplus.gov)
  • Here, we use tools of the epigenetic phenomenon, X-chromosome inactivation (XCI), to investigate their epigenetic properties. (pnas.org)
  • Nonparametric analysis of chromosome 20 inheritance data collected with the MODYl-linked marker D20S197 provides evidence forlinkage to NIDDM with a P value of 0.005 in Caucasian sib pairs using affected sibpair (ASP) analyses. (diabetesjournals.org)
  • There are court cases where dogs and cats get inheritance from deceased humans, and get legal status as persons that way. (sciforums.com)
  • Every chromosome pair had a least one rearrangement. (atcc.org)
  • Evidence for linkage to NIDDM was found with polymorphic loci that map to the long arms of human chromosomes 20 and 12 in regions containing the MODY1 and MODY3 genes. (diabetesjournals.org)
  • A maximum LOD score of 1.48 was calculated for linkage to MODYl-linked loci and 1.45 to MODY3-linked loci in Caucasian sib pairs. (diabetesjournals.org)
  • Linkage analysis of 25 extended families, in each of which at least one affected individual had panic disorder (PD), resulted in a LOD score of 4.18 at D9S271, on chromosome 9q31. (arctichealth.org)
  • Robust estimation of experimentwise P values applied to a genome scan of multiple asthma traits identifies a new region of significant linkage on chromosome 20q13. (edu.au)
  • House-dust mite sensitivity (Dpter) exceeded the empirical threshold for significant linkage at 102 cM on chromosome 20q13, near marker D20S173 (empirical pointwise P = .00001 and genomewide P = .005, both uncorrected for multiple-trait testing). (edu.au)
  • Previously, in a genome scan of Ashkenazi Jewish type 2 diabetic families, we observed linkage to the chromosome 20q region encompassing HNF4 α. (diabetesjournals.org)
  • Several other type 2 diabetes studies have also identified linkage to chromosome 20q13.1-13.2 in Caucasian ( 4 - 7 ) and Japanese ( 8 ) families. (diabetesjournals.org)
  • The analysis provided evidence for linkage of type 2 diabetes to six regions, with the strongest evidence on chromosome 17p11.2-q22 (P=0.0016), followed by 2p22.1-p13.2 (P=0.027), 1p13.1-q22 (P=0.028), 12q21.1-q24.12 (P=0.029), 6q21-q24.1 (P=0.033) and 16p12.3-q11.2 (P=0.033). (ox.ac.uk)
  • Where Are Chromosomes Found in a Cell? (reference.com)
  • For example, people with Down syndrome have three copies of chromosome 21, instead of the two copies found in other people. (genome.gov)
  • They found a number of regions that 'might correspond to insertions that are specific to the human lineage. (answersingenesis.org)
  • In a 1-2 Mb interval in 5q13.3, the 'SMA region,' the researchers found a high number of duplications, including duplications of areas on chromosome 6. (alzforum.org)
  • Two pairs of human chromosomes had been found to be fused, he said, providing clear evidence of our shared ancestry with apes. (creation.com)
  • 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 have 23 … pairs of chromosomes andbananas 11 pairs - even if the 11 banana chromosomes were identicalto human ones (they're not) it would still mean that less than halfof human DNA would be found in a banana. (answers.com)
  • chromosome number and structure were found in three human ESC lines. (godandscience.org)
  • Coupling a dynamic analysis of fragmentation with an analysis of the timing of the major steps of embryonic development can significantly increase the chances of selecting an embryo with the correct number of chromosomes, the researchers found. (medicalxpress.com)
  • Pulsed field gel electrophoresis experiments showed that the pairs of KOX genes found on the chromosome bands 12q24.33, 16q22-q23, 19p13.3-p13.2, or 19q13.3-qter lie within 200-300 kb DNA fragments. (springer.com)
  • One was in the human leukocyte antigen (HLA) region on chromosome 6 (lowest p value = 1.8 × 10 -23 for rs9264638). (elsevier.com)
  • A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetes. (ox.ac.uk)
  • Cosmid End-sequence profiling Fosmid Human artificial chromosome Yeast artificial chromosome O'Connor M, Peifer M, Bender W (June 1989). (wikipedia.org)
  • This is an achievement nothing short of astonishing when one considers that the complete sequence of the human genome consists of 3.2 billion letters and is so enormous that it can only be published in data bases on the Internet. (eufic.org)
  • In their article, Schmutz and colleagues report that the duplicated regions on this chromosome have a greater degree of sequence identity than duplications on other chromosomes. (alzforum.org)
  • The Institute made the largest single contribution*** to the gold- standard sequence of the first human genome, which was published in 2003. (eurekalert.org)
  • In contrast, the sequence of chemicals that defines each human being, namely our DNA, does not change, cannot be destroyed, and is never wrong. (bellaonline.com)
  • The four nucleotides present in DNA are adenine (A), guanine (G), cytosine (C), and thymine (T). G always pairs with C and A always pairs with T. It is the sequence of these pairs that provides the basis for counting repeating patterns. (bellaonline.com)
  • Not only has Genome Reference Consortium build 38 (GRCh38) eliminated some pesky previous gaps, it will be the first human reference assembly to have sequence information for centromeres. (nature.com)
  • Our sequence-tagged site-content map of chromosome 12 is now integrated with the whole-genome fingerprinting effort. (elsevier.com)
  • Recently, the human genome sequence has enabled higher resolution screens for chromosome anomalies using both molecular cytogenetic and array based techniques. (bmj.com)
  • Tabulation of allele sharing in affected sib pairs with D20S197 and D12S349 suggests that affected sibling pairs may inherit susceptibility genes simultaneously from chromosome 20 and chromosome 12. (diabetesjournals.org)
  • [12] The chromosome with this allele became the Y chromosome, while the other member of the pair became the X chromosome. (wikipedia.org)
  • Hence since this DNA string shows 12 repeats of TAGA, the allele value (that would be recorded for the specific marker or location where this DNA string came from would be 12. (bellaonline.com)
  • Along with definitions and descriptions, it is important to understand the consequences of each type of aberration with respect to chromosome pairing at synapsis in meiosis (especially in a cell that is heterozygous for the aberration), on fertility, and their potential roles in evolution. (coursehero.com)
  • This is a hyper-triploid human cell line with a modal chromosome number of 75. (atcc.org)
  • Called the synaptonemal complex, this zipper seems necessary to allow the homologues to break and recombine, thereby exchanging a set of genes between Mom and Dad before sending the chromosomes into the world aboard egg or sperm. (healthcanal.com)
  • The Y chromosomes of humans and other mammals also contain other genes needed for normal sperm production. (wikipedia.org)
  • Laboratories are starting to routinely check chromosomes at a few days after an egg and sperm join, before the embryo is placed in the womb. (genomenewsnetwork.org)
  • Several different changes involving chromosome 12 have been reported, including an extra piece of the chromosome in each cell (partial trisomy 12), a missing segment of the chromosome in each cell (partial monosomy 12), and a circular structure called a ring chromosome 12. (medlineplus.gov)
  • Our approach spans the earth-based scientific to the farthest realms of consciousness explorations - this work, which we have spent our lifetime crafting and developing is a synergy and a blending of many different teachings, philosophies and theories in the multi-faceted realms of the unfolding Human Potential. (visionarymusic.com)
  • Scientists gave this name to chromosomes because they are cell structures, or bodies, that are strongly stained by some colorful dyes used in research. (genome.gov)
  • Scientists estimate that about 12 million Americans are currently CF carriers. (kidshealth.org)
  • Evolutionary scientists believe that one of the human chromosomes has been formed through the fusion of two small chromosomes in the chimp instead of an intrinsic difference resulting from a separate creation. (answersingenesis.org)
  • Scientists have prepared a human-chimpanzee comparative clone map of chromosome 21 in particular. (answersingenesis.org)
  • Research in this area has accelerated since the unravelling of genes in humans because scientists can now identify the various ways in which diets and nutrients affect individuals and how our genes are turned on or off by what we eat. (eufic.org)
  • British scientists recently reported a new chromosome-imaging technique that may allow clinics to improve the odds for IVF success. (genomenewsnetwork.org)
  • A team of scientists led by Erez Lieberman-Aiden and Nynke van Berkum showed that chromosomes that make up our genome fold into a shape called a "fractal globule", where the long strands of DNA are densely packed but without a single knot. (scienceblogs.com)
  • You may have learned in school that humans have 23 pairs of chromosomes: Twenty-two "autosomes" and their partners, which contain pretty much the same genes and in the same order, plus one pair of sex chromosomes that lead to the differentiation in sexual traits. (gizmodo.com.au)
  • Humans have 23 pairs of chromosomes, 46 in all: 44 autosomes and two sex chromosomes. (godandscience.org)
  • A bacterial artificial chromosome (BAC) is a DNA construct, based on a functional fertility plasmid (or F-plasmid), used for transforming and cloning in bacteria, usually E. coli. (wikipedia.org)
  • The development and applications of the bacterial artificial chromosome cloning system" (PDF). (wikipedia.org)
  • It provides accurate and nearly complete bacterial clone coverage of chromosome 12. (elsevier.com)
  • The human evolutionary tree is embedded within the great apes. (wikiversity.org)
  • In sum, testing for both Y-chromosome and mtDNA one can determine the haplogroups one belongs to and hence determine a specific branch on the the tree of evolutionary relationships between groups of people. (bellaonline.com)
  • In general, more far is a specie (speaking in evolutionary terms) to human and more big is the difference. (answers.com)
  • As researchers seek new ways to boost the success rates of in vitro fertilization (IVF), they are finding that most fertilized human eggs appear destined for the evolutionary trash heap. (genomenewsnetwork.org)
  • This will be a major boon to evolutionary studies of human populations and to the many groups doing mechanistic work on human centromeres and kinetochores," says Stanford University researcher Aaron Straight, whose work focuses on cell division and chromosome segregation. (nature.com)
  • and (ii) a set of breakpoint regions resulting from evolutionary rearrangements which occurred since the split of the human and mouse lineages. (biomedcentral.com)
  • These findings strongly suggest that part of the 3D organisation of chromosomes may be conserved across very large evolutionary distances. (biomedcentral.com)