In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Any method used for determining the location of and relative distances between genes on a chromosome.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Actual loss of portion of a chromosome.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The alignment of CHROMOSOMES at homologous sequences.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Mapping of the KARYOTYPE of a cell.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
Aberrant chromosomes with no ends, i.e., circular.
An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Structures within the CELL NUCLEUS of insect cells containing DNA.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
Structures which are contained in or part of CHROMOSOMES.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
The possession of a third chromosome of any one type in an otherwise diploid cell.
The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.
DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.
Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Genetic loci associated with a QUANTITATIVE TRAIT.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
An aberration in which an extra chromosome or a chromosomal segment is made.
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
An individual having different alleles at one or more loci regarding a specific character.
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
The process by which a DNA molecule is duplicated.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.
The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
Genotypic differences observed among individuals in a population.
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.
Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.
Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.
Genes that are located on the X CHROMOSOME.
Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
Genes that influence the PHENOTYPE only in the homozygous state.
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
Established cell cultures that have the potential to propagate indefinitely.
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The degree of replication of the chromosome set in the karyotype.
An individual in which both alleles at a given locus are identical.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
The relationships of groups of organisms as reflected by their genetic makeup.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
The functional hereditary units of BACTERIA.
The genetic complement of a plant (PLANTS) as represented in its DNA.
DNA present in neoplastic tissue.
DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
A characteristic symptom complex.
The stage in the first meiotic prophase, following ZYGOTENE STAGE, when CROSSING OVER between homologous CHROMOSOMES begins.
Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.
Deoxyribonucleic acid that makes up the genetic material of fungi.
Genes that are located on the Y CHROMOSOME.
Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.
A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.
Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
Deoxyribonucleic acid that makes up the genetic material of plants.
A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.
The mechanisms by which the SEX of an individual's GONADS are fixed.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
The functional hereditary units of INSECTS.
Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.
The prophase of the first division of MEIOSIS (in which homologous CHROMOSOME SEGREGATION occurs). It is divided into five stages: leptonema, zygonema, PACHYNEMA, diplonema, and diakinesis.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
A method for ordering genetic loci along CHROMOSOMES. The method involves fusing irradiated donor cells with host cells from another species. Following cell fusion, fragments of DNA from the irradiated cells become integrated into the chromosomes of the host cells. Molecular probing of DNA obtained from the fused cells is used to determine if two or more genetic loci are located within the same fragment of donor cell DNA.
A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.
Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

Partial trisomy D: a diagnostic and cytogenetic dilemma. (1/193)

An 18-month-old proposita with psychomotor retardation and other congenital abnormalities is presented. Chromosomal analysis of both parents proved normal. However, the karyotype of the proposita contained 47 chromosomes in both lymphocytes and cultured fibroblasts. The marker chromosome proved to be a deleted No. 14 or 15. Comparison of the reported cases of partial trisomy D indicates that a definitive clinical syndrome is not apparent in either case.  (+info)

Somatic rearrangement of chromosome 14 in human lymphocytes. (2/193)

Ataxia-telangiectasia is a rare genetic disorder associated with immune deficiency, chromosome instability, and a predisposition to lymphoid malignancy. We have detected chromosomally anomalous clones of lymphocytes in eight patients with this disorder. Chromosome banding disclosed that the clones are consistently marked by structural rearrangement of the long arm (q) of chromosome 14. A translocation involving 14q was found in clones obtained from seven of the eight patients whereas a ring 14 chromosome was found in a clone obtained from the other. These findings as well as data obtained by others for patients with ataxia-telangiectasia suggest that structural rearrangement of 14q is the initial chromosomal change in lymphocyte clones of patients with this disorder. Chromosomes of lymphocytes from one of the patients were studied before and after the onset of chronic lymphocytic leukemia. Before leukemia was diagnosed, the patient had a lymphocyte clone with a 14q translocation. This clone appears to have given rise to the leukemic cells. We hypothesize that structural rearrangement of 14q is directly related to abnormal growth of lymphocytes and that it may be a step toward the development of lymphoid malignancies. Increasing evidence, provided by others, for the nonrandom involvement of 14q in African-type Burkitt's lymphoma and other lymphoid neoplasms further strengthens this hypothesis.  (+info)

Loss of Rh antigen associated with acquired Rh antibodies and a chromosome translocation in a patient with myeloid metaplasia. (3/193)

Myeloid metaplasia is a clonal disease of the marrow pluripotent stem cell in which a constant cytogenetic abnormality could result in an altered antigenic characteristic of hematopoietic cells. A 57-yr-old man who had acquired myeloid metaplasia at age 37 was noted to be Rh negative, although blood typing at age 33 was Rh positive. His erythrocytes reacted with anti-c and anti-e, typical for an Rh negative individual. Analysis of 11 metaphase bone marrow cells by G-banding revealed 46 chromosomes with a consistent anomaly in 100% of cells involving chromosomes 1 and 13. The changes were consistent with a reciprocal translocation, with break points at approximately 1p32 and 13q22, although break points at 1p13 and 13q14 were also possible. Since previous cytogenetic data have localized the Rh gene to the short arm of chromosome 1, our data indicate the Rh gene lies within the segment u13 leads to 1p32. Serum of this patient had circulating anti-D and anti-C antibodies. Consequently, this patient lost immunologic tolerance to a "self antigen" after losing the ability to express this antigen.  (+info)

Trisomy 13 and Rubinstein-Taybi syndrome. (4/193)

Initial diagnosis of Rubinstein-Taybi syndrome was made in an infant with a prominent nose and broad thumbs and first toes. However, due to the presence of other anomalies such as low-set, malformed ears, anti-mongoloid slant of the eyes, colobomata of the iris, and cleft palate, cytogenetic studies were carried out and the diagnosis of trisomy 13 was confirmed. Since, occasionally, trisomy 13 syndrome may mimic the Rubinstein-Taybi syndrome, cytogenetic studies should be considered in all patients with clinical diagnosis of Rubinstein-Taybi syndrome.  (+info)

Chromosomal location of the genes for human immunoglobulin heavy chains. (5/193)

We have studied somatic cell hybrids between P3x63Ag8 mouse myeloma cells deficient in hypoxanthine phosphoribosyltransferase (EC 2.4.2.8) and either human peripheral lymphocytes or human lymphoblastoid or myeloma cells for the production of human immunoglobulin chains and for the expression of enzyme markers assigned to each of the different human chromosomes. Human chromosome 14 was the only human chromosome present in all independent hybrids producing mu, gamma, and alpha human heavy chains. In two of the independent hybrids that produced human heavy chains, human chromosome 14 was the only human chromosome present in the hybrid cells. Loss of human chromosome 14 from these hybrids resulted in the concomitant loss of their ability to produce human immunoglobulin heavy chains. In view of these results, we conclude that the genes for human immunoglobulin heavy chains are located on human chromosome 14 in immunoglobulin-producing human cells.  (+info)

Specific chromosome aberrations in ataxia telangiectasia. (6/193)

Cytogenetic observations on seven cases of ataxia telangiectasia are presented. The aberration frequency was found to be increased in all of them with a specificity for the involvement of the D-group chromosomes in rearrangements. Clones of cytogenetically abnormal cells were observed in the lymphocytes of three cases and in the cultured skin fibroblasts of two cases, again with a specificity for D-group involvement. G-banding shows that chromosome 14 is frequently involved in rearrangements in clone cells and that the band 14q12 may be a highly specific exchange point. The significance of lymphocyte clones with a proliferative advantage in vivo is discussed. Cytogenetic studies of the parents and sibs of these cases are also reported.  (+info)

Klinefelter's syndrome associated with a D/D translocation. (7/193)

A case of Klinefelter's syndrome and a simultaneous familial D/D translocation is described. The clinical, endocrine, and psychiatric features were typical of those found in Klinefelter's syndrome. Other family members showed no obvious abnormality despite presence of the D/D translocation.  (+info)

Association of D/D translocations with fetal wastage and aneuploidy. A report of four families. (8/193)

Four families are described with a t(13q14q) segregating. Two of them were identified through index cases with Down's syndrome; their karotypes revealed the unusual 46,XY, -13, -14, +t(13q14q), +21. The other two families were identified through a chromosomal study of parents with repeated spontaneous abortions. Analysis of data on 3 of these 4 families and on 7 other from the published reports showed no evidence of increased fetal wastage among 13/14 carriers. However, the risk of producing offspring with various types of aneuploidy may be greater among carriers than among persons with a normal chromosome pattern. Qualitative and quantitative differences in D/D translocations may account for the observed variation in clinical findings. These differences add to the problem of determining genetic risks from an analysis of grouped data.  (+info)

炎夏來臨3您希望自己和孩子在享受陽光之餘3也能保持健康水嫩的皮膚嗎?這個夏天3就好好來場抗「日「大戰吧( 出門慎選時間 早上十點到下午三點之間3是日照最強烈的時間3如非必要3儘量避免在這段時間出外走動》陽光雖是維他命 D 合成的重要因素3但一般只要房間採光良好3加上孩子平日上下學在外活動3就可得到充足的維他命 D》 記得打傘戴帽子 媽媽出門別忘了撐把陽傘3孩子則一定要戴寬邊帽3可能的話穿長袖衣服3若穿短袖則要記得擦防曬油》 選擇適合自己的防曬油 每個人體質不同3適合孩子的防曬油不一定適合媽媽3媽媽慣用的品牌也不見得適合孩子3使用前最好先做測試3在大腿內側塗抹一些3看看會不會紅 癢3如無特殊反應3再放心使用》購買時要詳閱說明3看看成份是否能過濾紫外線 A 紫外線 B3許多品牌只能過濾紫外線 ...
D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D DD D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D£ D£ ï ïï ï ï ï ï ï ï ï ï ï ï ï ï ï ï ï ï ï ï ï Ç Phy Qal Pgr Pgr Pgr Qtg3 Qtg3 Pgr Pgr Qtg3 Qtg3 Pgr Pgr Pgr Pgr Qtg3 Pgr Qal Pgr Qtg4 Qtg4 Qtg4 Phy Phy Qal Qtg3 Phy Phy Qtg1 Phy Phy Ph Pgr Qtg2 Qtg2 Phy Pgr Qal Phy Phy Phy Phy Qtg4 Qtg4 ...
D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D D ï ï ï Phy Phyr Phy Phy Phyr Phyr Phyr Qal Phyr Phyr Phy Phy Phy Qal Phy Phy Qgco af Qcs Qal af Qacy Qacm Qal Qacm Qacy Qgco Qacm Phy Phy Pdn Qal Qal Qal Qacm Qacy Qal Pdn Qal Pdn Phy Qal Qal Phy Qal Phy Qal Qal Qgco Pdn B B Qal Qal Qds Qds Qds Qds Qds Qds Sea Level 10x vertical exageration. Formation contacts based on wireline-log interpretations by N.H. Suneson; surface mapping by authors; vertical lines show logs used in interpretations. 200 400 600 800 1000 1200 1400 Feet B Sea Level 200 400 600 800 1000 1200 1400 Feet B Qal Qal Phy Phyr Phy Phy Garber Formation Wellington Formation Okland ...
Complete information for ESD gene (Protein Coding), Esterase D, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
[MUSIC VIDEO] Dare David - Who Is Like Our God (ft) RNA Messengers., Set out David, who is an International gospel recording and performing artiste,
TY - JOUR. T1 - DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation. AU - Kato, Takema. AU - Inagaki, Hidehito. AU - Tong, Maoqing. AU - Kogo, Hiroshi. AU - Ohye, Tamae. AU - Yamada, Kouji. AU - Tsutsumi, Makiko. AU - Emanuel, Beverly S.. AU - Kurahashi, Hiroki. PY - 2011/9/14. Y1 - 2011/9/14. N2 - Background. Cumulative evidence suggests that DNA secondary structures impact DNA replication, transcription and genomic rearrangements. One of the best studied examples is the recurrent constitutional t(11;22) in humans that is mediated by potentially cruciform-forming sequences at the breakpoints, palindromic AT-rich repeats (PATRRs). We previously demonstrated that polymorphisms of PATRR sequences affect the frequency of de novo t(11;22)s in sperm samples from normal healthy males. These studies were designed to determine whether PATRR polymorphisms affect DNA secondary structure, thus leading to variation in translocation frequency. ...
Preparation Methods of Human Metaphase Chromosomes for their Proteome Analysis.: Chromosomes are supermolecules that contain most of the DNA within a cell and a
Looking for Partial trisomy? Find out information about Partial trisomy. Deviation from a normal haploid, diploid, or polyploid chromosome complement by the presence in excess of, or in defect of, one or more individual chromosomes Explanation of Partial trisomy
Treatments for Chromosome 4, partial trisomy distal 4q including drugs, prescription medications, alternative treatments, surgery, and lifestyle changes.
Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. Further, the shape of the relationship between age and translocation frequency (TF) has not been definitively determined. We collected existing data from 16 laboratorie
TY - JOUR. T1 - Pregnancy outcomes of reciprocal translocation carriers who have a history of repeated pregnancy loss. AU - Ozawa, Nobuaki. AU - Maruyama, Tetsuo. AU - Nagashima, Takashi. AU - Ono, Masanori. AU - Arase, Toru. AU - Ishimoto, Hitoshi. AU - Yoshimura, Yasunori. PY - 2008/10. Y1 - 2008/10. N2 - Cytogenetic investigation of 2,324 Japanese couples with repeated pregnancy loss revealed that 4.91% of couples (n = 114) had chromosome abnormalities including reciprocal translocation (n = 74), Robertsonian translocation (n = 23), and inversion (n = 10). Parental reciprocal translocation was a significant predictor of subsequent miscarriage (adjusted odds ratio: 3.6, 95% confidence interval: 1.8-7.1), and most of the miscarriages of the carrier couples were inevitable because of abnormal karyotypes, despite appropriate treatments.. AB - Cytogenetic investigation of 2,324 Japanese couples with repeated pregnancy loss revealed that 4.91% of couples (n = 114) had chromosome abnormalities ...
Although the physical dimensions of chromosomes are such that they fall well within the spatial resolving power of scanning electron microscopes, results in the past have been disappointing. This is most likely due to limitations in preparative techniques, coupled with the initial necessity to separate the chromosomes from the remainder of the metaphase cell. Two approaches have been employed, a; to use a variety of isolation buffers which provide bulk chromosome preparations, b; to use metaphase spreads prepared essentially as for light microscopy and re-processed for SEM. In the former, wide variations in chromosome surface topography and fibre organisation arise according to the choice of isolation buffer, and mixed populations preclude individual chromosome identification. In the latter the shortcomings in preparation can be considered the air drying that occurs during the making of spreads, and the initial use of methanol/acetic acid fixation. In our view however, these limitations in preparation
Lucas diagnosis of Partial Trisomy 13 (PT13) is extremely rare! While the typical human has two chromosomes, an individual with a chromosomal disorder has an extra chromosome (full or partial) present. With Trisomy 13, this extra chromosome causes severe intellectual disability and physical problems. There are 4 variations of Trisomy 13: Full Trisomy 13 -…
T8M, partial trisomy 8, . Differing proportions of 47,XY, +der(8) and 46 XY were present in the different fetal tissues sampled. The highest proportion of 47,XY,+der(8)
So I decided to follow the Magic Squid, hoping it would guide me back to dancer storage because I thought, Why would Magic Squid deceive me?
Background: Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. In carriers of such translocatio...
Emerson 19 months old Partial Trisomy 18 Parents: Tyson and Terra Garst Omaha, NE Emerson was diagnosed with Partial Trisomy 18q at 17 weeks gestation due to family history of a translocation as well as soft signs found on ultrasound (club foot and nuchal fold thickening). Emerson was induced at 40 weeks 2 days and immediately admitted to…… Continue Reading. ...
The PDB archive contains information about experimentally-determined structures of proteins, nucleic acids, and complex assemblies. As a member of the wwPDB, the RCSB PDB curates and annotates PDB data according to agreed upon standards. The RCSB PDB also provides a variety of tools and resources. Users can perform simple and advanced searches based on annotations relating to sequence, structure and function. These molecules are visualized, downloaded, and analyzed by users who range from students to specialized scientists.
Emerson 19 months old Partial Trisomy 18 Parents: Tyson and Terra Garst Omaha, NE Emerson was diagnosed with Partial Trisomy 18q at 17 weeks gestation due to family history of a translocation as well as soft signs found on ultrasound (club foot and nuchal fold thickening). Emerson was induced at 40 weeks 2 days and immediately admitted to…… Continue Reading. ...
DI-fusion, le Dépôt institutionnel numérique de lULB, est loutil de référencementde la production scientifique de lULB.Linterface de recherche DI-fusion permet de consulter les publications des chercheurs de lULB et les thèses qui y ont été défendues.
CIMMYT manages Intellectual Assets as International Public Goods. The user is free to download, print, store and share this work. In case you want to translate or create any other derivative work and share or distribute such translation/derivative work, please contact [email protected] indicating the work you want to use and the kind of use you intend; CIMMYT will contact you with the sutable license for that purpose ...
Already voted YES for sticky-ing DWI and MP; second the props for IW and SK! (I tried to change the ownership of the Welcome thread I stickied to Living...
The PRAME family has 26 members on human chromosome 1. In the macaque, it has eight, and has been very simple and stable for ... coming to rely on handouts or refuse from humans. They adapt well to human presence, and form larger troops in human-dominated ... So, macaque, chimpanzee, and human chromosomes are mosaics of each other.[citation needed] Some normal gene sequences in ... The rhesus macaque has 21 pairs of chromosomes. Comparison of rhesus macaques, chimpanzees, and humans revealed the structure ...
Lu Z, Hu X, Li Y, Zheng L, Zhou Y, Jiang H, Ning T, Basang Z, Zhang C, Ke Y (August 2004). "Human papillomavirus 16 E6 ... Other abnormalities in this region of chromosome 15 can also cause Angelman syndrome. These chromosomal changes include ... Anan T, Nagata Y, Koga H, Honda Y, Yabuki N, Miyamoto C, Kuwano A, Matsuda I, Endo F, Saya H, Nakao M (November 1998). "Human ... Ubiquitin-protein ligase E3A (UBE3A) also known as E6AP ubiquitin-protein ligase (E6AP) is an enzyme that in humans is encoded ...
Hurley, Dan (2013). "Investigators Silence Trisomy 21 Chromosome in Human Down Syndrome Cells". Neurology Today. 13 (17): 14-15 ...
Human chromosomes 13, 14, 15, 21, and 22 have NORs, which increase the silver stain activity by at least 50 times.[citation ... Merril CR, Switzer RC, Van Keuren ML (1979). "Trace polypeptides in cellular extracts and human body fluids detected by two- ... 13 (4): 213-20. doi:10.1016/S1054-8807(03)00153-4. PMID 15210137. Barnini S, Dodi C, Campa M (2004). "Enhanced resolution of ... 13 (7): 429-439. doi:10.1002/elps.1150130190. PMID 1425556. Lelong C, Chevallet M, Luche S, Rabilloud T (2009). Silver staining ...
"Banding patterns of the chromosomes of the Rhesus monkey (Macaca mulatta)". Journal of Human Evolution 3 (4): 291-295. doi: ... in human blood reacting with anti-rhesus sera and with human isoantibodies". J Exp Med 74 (4): 309-320. PMC 2135190. PMID ... In: Mitruka, B. M., Rawnsley, H. M., Vadehra, D. V., (eds.) Animals for medical research: models for the study of human disease ... "DNA sequence of Rhesus macaque has evolutionary, medical implications" (Nota de prensa). Human Genome Sequencing Center. 13 ...
Perticone, P.; Rizzoni, M.; Palitti, F.; Di Chiara, P. (1974). "Banding patterns of the chromosomes of the Rhesus monkey ( ... "DNA sequence of Rhesus macaque has evolutionary, medical implications" (Press release). Human Genome Sequencing Center. 13. 4. ... Macaca mulatta)". Journal of Human Evolution. 3 (4): 291-295. doi:10.1016/0047-2484(74)90023-2.. ... evolutionary and functional contexts with comparisons to chimpanzees and humans". Journal of Anatomy. Wiley. 215 (3): 320-334. ...
"Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15". Human Molecular Genetics. 4 (1): 9- ... Bardet-Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene. This gene encodes a protein which contains ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Human BBS4 genome location and BBS4 gene details page in the UCSC Genome ... American Journal of Human Genetics. 71 (1): 22-9. doi:10.1086/341031. PMC 384990. PMID 12016587. Riise R, Tornqvist K, Wright ...
"Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15". Human Molecular Genetics. 4 (1): 9- ... "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)". Human Molecular Genetics. 10 (8): ... Human Mutation. 11 (5): 387-394. doi:10.1002/(sici)1098-1004(1998)11:5. 3.0.co;2-8. ISSN 1098-1004. Buskila, Dan; Neumann, Lily ... American Journal of Human Genetics. 59 (2): 385-391. ISSN 0002-9297. PMC 1914732. PMID 8755925. Raz, Aviad E.; Atar, Marcela; ...
RNA, ribosomal 5, also known as RNR5, is a human gene. Genes for ribosomal RNA are clustered on the short arms of chromosomes ... 1985). "Variation among human 28S ribosomal RNA genes". Proc. Natl. Acad. Sci. U.S.A. 82 (22): 7666-7670. Bibcode:1985PNAS... ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Entrez Gene: RNR5 ... The gene for RNR5 exists in multiple copies on chromosome 22. Each gene cluster contains 30-40 copies and encodes a 45S RNA ...
Protein diaphanous homolog 1 is a protein that in humans is encoded by the DIAPH1 gene. This gene is a homolog of the ... Leon PE, Raventos H, Lynch E, Morrow J, King MC (June 1992). "The gene for an inherited form of deafness maps to chromosome ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ... a novel regulatory subunit for human Cdc7 kinase". The EMBO Journal. 21 (12): 3171-81. doi:10.1093/emboj/cdf290. PMC 126049. ...
1995). "Cloning, sequencing, and mapping of the human chromosome 14 heat shock protein gene (HSPA2)". Genomics. 23 (1): 85-93. ... HSPA2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) v t e. ... 1994). "Human immunodeficiency virus type 1 interaction with the membrane of CD4+ cells induces the synthesis and nuclear ... Heat shock-related 70 kDa protein 2 is a protein that in humans is encoded by the HSPA2 gene. GRCh38: Ensembl release 89: ...
Chromosome 1 (human) Chromosome 2 (human) Chromosome 3 (human) Chromosome 4 (human) Chromosome 5 (human) Chromosome 6 (human) ... human) Chromosome 19 (human) Chromosome 20 (human) Chromosome 21 (human) Chromosome 22 (human) Chromosome X (human) Chromosome ... Chromosome 7 (human) Chromosome 8 (human) Chromosome 9 (human) Chromosome 10 (human) Chromosome 11 (human) Chromosome 12 (human ... human) Chromosome 14 (human) Chromosome 15 (human) Chromosome 16 (human) Chromosome 17 (human) Chromosome 18 ( ...
The karyotype of humans includes only 46 chromosomes. The other great apes have 48 chromosomes. Human chromosome 2 is now known ... Humans have one pair fewer chromosomes than the great apes. Human chromosome 2 appears to have resulted from the fusion of two ... In primates, the great apes have 24x2 chromosomes whereas humans have 23x2. Human chromosome 2 was formed by a merger of ... In the germ-line (the sex cells) the chromosome number is n (humans: n = 23).p28 Thus, in humans 2n = 46. So, in normal diploid ...
"Mapping of prolactin and tumor necrosis factor-beta genes on human chromosome 6p using lymphoblastoid cell deletion mutants". ... Discovered in non-human animals around 1930 by Oscar Riddle and confirmed in humans in 1970 by Henry Friesen, prolactin is a ... 75/504 1st IRP for human Prolactin) at a time when purified human prolactin was in short supply. Previous standards relied on ... In humans, three smaller (4, 16 and 22 kDa) and several larger (so called big and big-big) variants exist.[not verified in body ...
... encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, ... For the human VSPs, it has been suggested the adoption of the names Hs-VSP1 and Hs-VSP2 when referring to TPIP and TPTE, ... Humans contain two members, TPTE and TPTE2, which result from a primate-specific duplication [1]. Most reports indicate that ... including humans, mice, zebrafish, frogs, and sea squirt. The first voltage sensitive phosphatase was discovered as a result of ...
2000). "Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21" (PDF). ... encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, ... Putative tyrosine-protein phosphatase TPTE is an enzyme that in humans is encoded by the TPTE gene. TPTE is a member of a large ... 2002). "The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE ...
They are vital to spindle formation in mitotic and meiotic chromosome separation during cell division and are also responsible ... human): 14-15 In contrast to animals, fungi and non-vascular plants, the cells of flowering plants lack dynein motors. However ... human): 40 Chromadorea ( nematode C. elegans): 15 Kinesins are a group of related motor proteins that use a microtubule track ... human): 45 Dyneins are microtubule motors capable of a retrograde sliding movement. Dynein complexes are much larger and more ...
... and CRF2-4 genes cluster on human chromosome 21 and mouse chromosome 16". Mamm Genome. 4 (6): 338-42. doi:10.1007/BF00357094. ... 1994). "The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21". Ann. Hum. Genet. 58 (Pt 1): 25-34 ... 2002). "From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map". Genomics. ... 2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311-9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518 ...
In the human genome there are 5 chromosomes with nucleolus organizer regions: the acrocentric chromosomes 13 (RNR1), 14 (RNR2 ... Conserved sequences at coding regions of rDNA allow comparisons of remote species, even between yeast and human. Human 5.8S ... The genes that are responsible for encoding the various sub-units of rRNA are located across multiple chromosomes in humans. ... In the nucleus, the rDNA region of the chromosome is visualized as a nucleolus which forms expanded chromosomal loops with rDNA ...
Aberg K, Saetre P, Jareborg N, Jazin E (May 2006). "Human QKI, a potential regulator of mRNA expression of human ... The MIAT gene is located on Chromosome 22 and is 30,051 bases in length. MIAT's other name, gomafu, is a word in Japanese that ... "Variation of gene-based SNPs and linkage disequilibrium patterns in the human genome". Human Molecular Genetics. 13 (15): 1623- ... The gene is found not only in humans, but also in mice and rats. Orthologs are present in syntenic positions of frog and ...
Known disorders in humans include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome ... It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. Chromosome mutation ... An example of trisomy in humans is Down syndrome, which is a developmental disorder caused by an extra copy of chromosome 21; ... Acquired chromosome abnormalities[edit]. Most cancers, if not all, could cause chromosome abnormalities,[12] with either the ...
... in humans across multiple chromosomes has been observed, both within and between human individuals. Many of these variations ... Typically in bacteria there are between one and fifteen copies. Archaea contains either a single rRNA gene operon or up to four ... In humans, approximately 300-400 repeats are present in five clusters, located on chromosomes 13 (RNR1), 14 (RNR2), 15 (RNR3), ... July 2018). "Variation in human chromosome 21 ribosomal RNA genes characterized by TAR cloning and long-read sequencing". ...
"An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes". Human Genetics. 34 (2 ... In humans, the NORs are located on the short arms of the acrocentric chromosomes 13, 14, 15, 21 and 22, the genes RNR1, RNR2, ... "Combination of silver and fluorescent staining for metaphase chromosomes". American Journal of Human Genetics. 30 (1): 76-9. ... The exact sequence of these regions is not included in the human reference genome as of 2016 or the GRCh38.p10 released January ...
"The human SWI/SNF-B chromatin-remodeling complex is related to yeast rsc and localizes at kinetochores of mitotic chromosomes ... Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D (Sep 1998). "A human RNA polymerase II complex ... Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D (Sep 1998). "A human RNA polymerase II complex ... Muchardt C, Reyes JC, Bourachot B, Leguoy E, Yaniv M (Jul 1996). "The hbrm and BRG-1 proteins, components of the human SNF/SWI ...
Known disorders in humans include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome ... An example of monosomy in humans is Turner syndrome, where the individual is born with only one sex chromosome, an X. Exposure ... An example of trisomy in humans is Down syndrome, which is a developmental disorder caused by an extra copy of chromosome 21; ... Robertsonian translocation: An entire chromosome has attached to another at the centromere - in humans these only occur with ...
In humans it is usually associated with the short arm of an acrocentric chromosome, such as in the chromosomes 13, 14, 15, 21 ... At either end of a chromosome is a telomere, a cap of DNA that protects the rest of the chromosome from damage. The telomere ... "Short arm of a chromosome". MedicineNet. Retrieved 2016-04-10. "National Human Genome Research Institute (NHGRI) - Centromere ... Most important is the distinction between chromosome region p and chromosome region q. The p region is represented in the ...
In humans it is usually associated with the short arm of an acrocentric chromosome, such as in the chromosomes 13, 14, 15, 21 ... Sullivan, G.J.; Bridger, J.M.; Cuthbert, A.P.; Newbold, R.F.; Bickmore, W.A.; McStay, B. (2001), "Human acrocentric chromosomes ... Satelliteor SAT-chromosomes are chromosomes that contain secondary constructs that serve as identifying .They are semmed in ... The satellite at metaphase appears to be attached to the chromosomes by a thread of chromatin. SAT-chromosomes whose secondary ...
RNA, ribosomal 2, also known as RNR2, is a human gene coding for ribosomal RNA. Genes for ribosomal RNA are clustered on the ... The gene for RNR2 exists in multiple copies on chromosome 14. Each gene cluster contains 30-40 copies and encodes a 45S RNA ... "RNR2 RNA, ribosomal 45S cluster 2 [ Homo sapiens (human) ]". CS1 maint: discouraged parameter (link) "RNA, Ribosomal 45S ... located on the short arms of the acrocentric chromosomes 13, 14, 15, 21 and 22 v t e v t e. ...
The assumption of late hybridization was in particular based on the similarity of the X chromosome in humans and chimpanzees, ... The chimpanzee-human last common ancestor, or CHLCA, is the last common ancestor shared by the extant Homo (human) and Pan ( ... These include natural selection on the X chromosome in the common ancestor of humans and chimpanzees, changes in the ratio of ... These include natural selection on the X chromosome in the common ancestor of humans and chimpanzees, changes in the ratio of ...
... 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] ... 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 ... Human BHLHE41 genome location and BHLHE41 gene details page in the UCSC Genome Browser. ...
Human chromosome 2 resulted from a fusion of two ancestral chromosomes that remained separate in the chimpanzee lineage. " The ... Mitochondrial DNA and human history. The Human Genome. 2003-10-09 [2006-09-19]. (原始内容存档于2015-09-07) (英语).. ... 大多數人類基因擁有許多的外顯子,且人類的內含子比位在其兩端的外顯子更長。這些基因參差不齊地分佈在染色體中,每一個染色體皆含
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
Lamin A/C gene and a related sequence map to human chromosomes 1q12.1-q23 and 10. Somat. Cell Mol. Genet. March 1993, 19 (2): ... Human laminopathies: nuclei gone genetically awry. Nat. Rev. Genet. December 2006, 7 (12): 940-52. PMID 17139325. doi:10.1038/ ... Life at the edge: the nuclear envelope and human disease. Nat. Rev. Mol. Cell Biol. 2002, 3 (8): 575-85. PMID 12154369. doi: ... The strange case of the "lumper" lamin A/C gene and human premature ageing. Trends in molecular medicine. 2004, 9 (9): 370-5. ...
A QTL for osteoporosis on the human chromosome 20. QTL mapping[edit]. ... "Human Genetics for 1st Year Students: Multifactorial Inheritance". Retrieved 6 January 2007.. ... An example of a polygenic trait is human skin color variation. Several genes factor into determining a person's natural skin ... However, due to some advantages, now plant geneticists are attempting to incorporate some of the methods pioneered in human ...
In search of the genetic footprints of Sumerians: a survey of Y-chromosome and mtDNA variation in the Marsh Arabs of Iraq - - ... Human rights *in pre-Saddam Iraq. *in Saddam Hussein's Iraq. *in post-invasion Iraq *in ISIL-controlled territory ...
For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... As a significant human pathogenic bacterium S. pneumoniae was recognized as a major cause of pneumonia in the late 19th century ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ... "A fatal form of septicaemia in the rabbit produced by the subcutaneous injection of human saliva. An experimental research". ...
O'Donovan (1999). „Physical mapping of the CXC chemokine locus on human chromosome 4.". Cytogenet. Cell Genet. 84: 39-42. PMID ... Angiolillo (1995). „Human interferon-inducible protein 10 is a potent inhibitor of angiogenesis in vivo". J. Exp. Med. 182: 155 ...
It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA).[21] ... creating daughter cpDNA chromosomes. In addition to the early ... "Circular chloroplast chromosomes: the grand illusion". The Plant Cell. 16 (7): 1661-6. doi:10.1105/tpc.160771. PMC 514151 ... "Circular chloroplast chromosomes: the grand illusion". The Plant Cell. 16 (7): 1661-6. doi:10.1105/tpc.160771. PMC 514151 ...
They argue that this is an issue with respect to the human right to water and sanitation and also from the perspective of the ... chromosomes and anatomy' at birth.[32] ... "Public Hygiene Lets Us Stay Human (PHLUSH). Retrieved June 22, ... The Human Rights Campaign, an LGBTQ advocacy group, recommends that employers grant access, and use, to public toilets ... Human Rights Campaign. "Restroom Access for Transgender Employees." Retrieved from "Restroom Access for Transgender Employees" ...
One research team found a correlation in male fruit flies and discussed it as a possibility in other species, even humans.[35] ... chromosome localization, and functional expression of cDNA clones". Biochemistry. 30 (44): 10640-6. doi:10.1021/bi00108a006. ... Palma C, Maggi CA (2000). "The role of tachykinins via NK1 receptors in progression of human gliomas". Life Sciences. 67 (9): ... Gerard NP, Garraway LA, Eddy RL, Shows TB, Iijima H, Paquet JL, Gerard C (Nov 1991). "Human substance P receptor (NK-1): ...
When a human is conceived, it gets 23 chromosomes from its mother and 23 from its father. If it does not get the right number ... About fifteen percent of pregnancies end in spontaneous abortion. In many cases, the woman is not even aware she was pregnant. ... For example, Down syndrome happens when there are three copies of chromosome #21. (Usually people have 2 of every chromosome.) ... This developing human is called an embryo for the first eight weeks of the pregnancy, and fetus for the rest of the pregnancy. ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... PAX8+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) ...
"Is the human race evolving or devolving?". Scientific American. From a biological perspective, there is no such thing as ... However, an increase in complexity can also be explained through a passive process.[13] Assuming unbiased random changes of ... This page was last edited on 13 October 2018, at 08:34 (UTC). ... chromosome. *endomembrane system. *mitochondria. *nucleus. * ... 15][16] Consequently, in this view, microscopic life dominates Earth, and large organisms only appear more diverse due to ...
During mammalian development, the gonads are at first capable of becoming either ovaries or testes.[5] In humans, starting at ... In males, certain Y chromosome genes, particularly SRY, control development of the male phenotype, including conversion of the ... Before the production of the pituitary hormone luteinizing hormone (LH) by the embryo starting at about weeks 11-12, human ... Häggström, Mikael; Richfield, David (2014). "Diagram of the pathways of human steroidogenesis". WikiJournal of Medicine. 1 (1 ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ... December 1993). "Human leukocyte antigen A1-B8-DR3-DQ2-DPB1*0401 extended haplotype in autoimmune hepatitis". Hepatology. 18 (6 ...
These tumors show a high frequency of co-deletions of the p and q arms of chromosome 1 and chromosome 19 respectively (1p19q co ... Human brains are surrounded by a system of connective tissue membranes called meninges that separate the brain from the skull. ... The brains of humans and other vertebrates are composed of very soft tissue and have a gelatin-like texture. Living brain ... "IARC classifies radiofrequency electromagnetic fields as possibly carcinogenic to humans" (PDF). World Health Organization ...
In humans, PR is encoded by a single PGR gene residing on chromosome 11q22,[5][6][7] it has two isoforms, PR-A and PR-B, that ... "The progesterone receptor gene maps to human chromosome band 11q13, the site of the mammary oncogene int-2". Proceedings of the ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.. .mw-parser-output ... The single-copy human (hPR) gene uses separate promoters and translational start sites to produce two isoforms, hPR-A and -B, ...
It is encoded in humans by the SERPINA1 gene. A protease inhibitor, it is also known as alpha1-proteinase inhibitor (A1PI) or ... Another name used is alpha-1 proteinase inhibitor (α1-PI). The gene is located on the long arm of the fourteenth chromosome ( ... The US FDA has approved the use of four alpha-1 antitrypsin products derived from a human plasma: Prolastin, Zemaira, Glassia, ... All three products showed minor differences compared to the normal human plasma A1AT, and are introduced during the specific ...
"American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... and Ptolemy XIII, who married and became co-rulers of ancient Egypt following their father's death, are the most widely known ... By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ...
Deletion in the 22q11.2 region of chromosome 22 has been associated with schizophrenia and autism.[22][23] Schizophrenia and ... An example of pleiotropy is phenylketonuria, an inherited disorder that affects the level of phenylalanine in the human body. ... The disease is caused by a defect in a single gene on chromosome 12 that codes for enzyme phenylalanine hydroxylase , that ... Pleiotropy not only affects humans, but also animals, such as chickens and laboratory house mice, where the mice have the "mini ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ... Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or ...
"The DNA sequence of human chromosome 22". Nature 402 (402). ISSN 0028-0836, págs. 489-495.. ... Human Genome Project (2003). "International Consortium Completes Human Genome Project". Human Genome Project Information (en ... U. S. Human Genome Project (2008). Office of Science - U. S. Dpt. of Energy, ed. "Major Events in the U.S. Human Genome Project ... National Human Genome Research Istitute - NHGRI (NIH) (2004). "Scientists Compare Rat Genome With Human, Mouse" (en inglés). ...
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 ... "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". ... A study of broad range gene expression was conducted on human malignant melanoma. Researchers classified the malignant melanoma ...
It has long been suspected as a causative agent in Crohn's disease in humans,[4][5] but studies have been unable to show ... The genome of MAP strain K-10 was sequenced in 2005 and found to consist of a single circular chromosome of 4,829,781 base ... 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 ...
Genes on human chromosome 15. *DNA repair. Hidden categories: *CS1 maint: Multiple names: authors list ... condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... It is of uncertain origin[1]:160 and widely cultivated as a crop for human consumption. It is also used as a cover crop, the ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... might frown on human consumption. But in Liguria, a maritime region near northern Italy, fava beans are loved raw, and consumed ...
In India, black tea is often boiled for fifteen minutes or longer to make Masala chai, as a strong brew is preferred. Tea is ... In recent investigations, it has also been made clear that both varieties have the same chromosome number (n=15) and can be ... "Food and Drug Administration, US Department of Health and Human Services. October 2014. Retrieved 25 October 2014.. ... but the compounds found in green tea have not been conclusively demonstrated to have any effect on human diseases.[79][80] One ...
"Mapping of a human brain voltage-gated calcium channel to human chromosome 12p13-pter". Genomics. 14 (4): 1092-4. doi:10.1016/ ... Calcium channel, voltage-dependent, L type, alpha 1C subunit (also known as Cav1.2) is a protein that in humans is encoded by ... Soldatov NM (Jul 1994). "Genomic structure of human L-type Ca2+ channel". Genomics. 22 (1): 77-87. doi:10.1006/geno.1994.1347. ... Powers PA, Gregg RG, Lalley PA, Liao M, Hogan K (Jul 1991). "Assignment of the human gene for the alpha 1 subunit of the ...
Lin HH, Stacey M, Hamann J, Gordon S, McKnight AJ (2000). „Human EMR2, a novel EGF-TM7 molecule on chromosome 19p13.1, is ... Stacey M, Lin HH, Hilyard KL, Gordon S, McKnight AJ (2001). „Human epidermal growth factor (EGF) module-containing mucin-like ... Gene structure and transcript analysis of the human and mouse EGF-TM7 molecule, FIRE". DNA Seq. 17 (1): 8-14. PMID 16753812. ... hormone receptor 3 is a new member of the EGF-TM7 family that recognizes a ligand on human macrophages and activated ...
Circular chromosomes, similar translation and transcription to Eukarya. Circular chromosomes, unique translation and ... making up about one in ten of all the prokaryotes in the human gut.[197] In termites and in humans, these methanogens may in ... after the cell's chromosome is replicated and the two daughter chromosomes separate, the cell divides.[154] In the genus ... Multiple, linear chromosomes, similar translation and transcription to Archaea. Internal cell structure. No membrane-bound ...
Cytogenetic studies in the proband revealed a typical form of chromosome i … ... Chromosome Aberrations* * Chromosomes, Human, 13-15* * Chromosomes, Human, 6-12 and X* ... The clinical features and the chromosome aberrations as present in the proband are usually found in chromosomal breakage ... Cytogenetic studies in the proband revealed a typical form of chromosome instability with multiple rearrangements of ...
13) (q36;q13) was detected on peripheral lymphocytes and fibroblasts of a 14-month-old boy. The patient presented a facial ... Chromosomes, Human, 13-15 * Chromosomes, Human, 6-12 and X * Fibroblasts * Humans ... Wilms tumor, malformative syndrome, mental retardation and de novo constitutional translocation, t(7;13)(q36;q13) Eur J ... An apparently balanced de novo constitutional translocation (7;13) (q36;q13) was detected on peripheral lymphocytes and ...
Categories: Chromosomes, Human, 13-15 Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
In case of humans, Robertsonian translocations occur between chromosome 14 and chromosomes 13, 15 or 21. ... In humans, chromosome number 13, 14, 15, 21 and 22 are acrocentric. Robertsonian translocations are also termed whole-arm ... Robertsonian translocation is a rare rearrangement which commonly occurs in acrocentric chromosomes. Acrocentric chromosomes ... The total chromosome number is reduced to 45 as two of the acrocentrics have fused to form one (new) chromosome. ...
Acrocentric chromosome: A chromosome with its centromere towards one end. Human chromosomes 13,14,15,21,22 are acrocentric. ... Human chromosome 2 is a result of a centric fusion between two ancestral ape chromosomes (gorillas have 24 pairs of chromosomes ... See Evolution of Sex Chromosomes in Human Molecular Genetics and Map Viewer: Y-chromosome. ... X chromosome: One of the sex chromosomes in humans. Females have two copies and males have one copy, which is invariably ...
Y-chromosome: The male-specific sex chromosome in humans, which is much smaller than the X-chromosome. 95% of the Y-chromosome ... Acrocentric chromosome: A chromosome with its centromere towards one end. Human chromosomes 13,14,15,21,22 are acrocentric. ... Human chromosome 2 is a result of a centric fusion between two ancestral ape chromosomes (gorillas have 24 pairs of chromosomes ... See Flaquer, 2008; Evolution of Sex Chromosomes in Human Molecular Genetics and Map Viewer: Y-chromosome. ...
Known disorders in humans include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome ... It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. Chromosome mutation ... An example of trisomy in humans is Down syndrome, which is a developmental disorder caused by an extra copy of chromosome 21; ... Acquired chromosome abnormalities[edit]. Most cancers, if not all, could cause chromosome abnormalities,[12] with either the ...
The PRAME family has 26 members on human chromosome 1. In the macaque, it has eight, and has been very simple and stable for ... coming to rely on handouts or refuse from humans. They adapt well to human presence, and form larger troops in human-dominated ... So, macaque, chimpanzee, and human chromosomes are mosaics of each other.[citation needed] Some normal gene sequences in ... The rhesus macaque has 21 pairs of chromosomes. Comparison of rhesus macaques, chimpanzees, and humans revealed the structure ...
Human chromosome 13: entries, gene names and cross-references to MIM. *MIM cross-references. Online Mendelian Inheritance in ... List of human entries with polymorphisms or disease mutations. *Human polymorphisms and disease mutations. Index of human ... "Genetic variants of the human dipeptide transporter PEPT1.". Anderle P., Nielsen C.U., Pinsonneault J., Krog P.L., Brodin B., ... "Genetic variants of the human dipeptide transporter PEPT1.". Anderle P., Nielsen C.U., Pinsonneault J., Krog P.L., Brodin B., ...
Known disorders in humans include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome ... An example of monosomy in humans is Turner syndrome, where the individual is born with only one sex chromosome, an X. Exposure ... An example of trisomy in humans is Down syndrome, which is a developmental disorder caused by an extra copy of chromosome 21; ... Robertsonian translocation: An entire chromosome has attached to another at the centromere - in humans these only occur with ...
HUMAN HEREDITY presents the concepts of human genetics in clear, concise language and provides relevant examples that you can ... 4. Pedigree Analysis in Human Genetics. 5. The Inheritance of Complex Traits. 6. Cytogenetics: Karyotypes and Chromosome ... Human Heredity: Principles and Issues / Edition 9. HUMAN HEREDITY presents the concepts of human genetics in clear, concise ... Empowerment Series: Understanding Human Behavior and the Social Zastrow and Kirst-Ashmans UNDERSTANDING HUMAN BEHAVIOR AND THE ...
The bovine and human strains were indistinguishable by phenotyping and genotyping methods and were of a low frequency spa type ... To our knowledge, this finding indicates the first documented case of direct transmission of MRSA between cows and humans. ... Novel multiplex PCR assay for characterization and concomitant subtyping of staphylococcal cassette chromosome mec types I to V ... Human-to-dog transmission of methicillin-resistant Staphylococcus aureus.Emerg Infect Dis. 2004;10:2235-7.PubMed ...
The clone array is available from BACPAC (bacpac.chori.org) in chromosome-specific plates (clones have been rearrayed at BACPAC ... Download human data. hs.clone.txt 958.58K Tue Jan 27 16:24:28 2004 Clone List. List of clones in the rearray ... If you have obtained your rearray from BACPAC, you should use the chromosome-specific rearray plate mappings. ... when the field is a number the clone is on the same chromosome as the neighbourhood, but not overlapping, and the number is the ...
The PRAME family has 26 members on human chromosome 1. In the macaque, it has eight, and has been very simple and stable for ... coming to rely on handouts or refuse from humans.[5] They adapt well to human presence, and form larger troops in human- ... So, macaque, chimpanzee, and human chromosomes are mosaics of each other.[citation needed] ... The X chromosome has three times more rearrangements than other chromosomes. The macaque gained 1,358 genes by duplication.[ ...
45S ribosomal DNA (rDNA) arrays, or clusters, are present on human chromosomes 13, 14, 15, 21 and 22, designated RNR1 through ... The GeneCards human gene database index: 2 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z ... for each of the five human chromosomes to which these loci are localized. This gene is a representative copy of the 28S ... A Portrait of Ribosomal DNA Contacts with Hi-C Reveals 5S and 45S rDNA Anchoring Points in the Folded Human Genome. (PMID: ...
Human rDNA: evolutionary patterns within the genes and tandem arrays derived from multiple chromosomes. (PMID: 11350117) ... The GeneCards human gene database index: 2 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z ... 45S ribosomal DNA (rDNA) arrays, or clusters, are present on human chromosomes 13, 14, 15, 21 and 22, designated RNR1 through ... for each of the five human chromosomes to which these loci are localized. This gene represents the 45S ribosomal DNA cluster on ...
VariO terms describe local DNA changes, chromosome number and structure variants, chromatin alterations, as well as genomic ... descriptions of variations and their effects and further reuse and integration of data from different sources by both human and ... Genome at juncture of early human migration: a systematic analysis of two whole genomes and thirteen exomes from Kuwaiti ... Ring chromosome (VariO:0182). "Ring chromosome" has its ends joined to form a ring structure (Fig. 4q). In ring chromosome 20 ...
In human studies, the A2 system contributes to the coagulopathy of acute promyelocytic leukemia, and is a target of high-titer ... Polymorphisms in the human ,i,ANXA2,/i, gene have been associated with stroke and avascular osteonecrosis of bone, two severe ... suggest that manipulation of the annexin A2/S100A10 system may offer promising new avenues for treatment of a spectrum of human ... Dysregulation of both A2 and p11 has been reported in examples of rodent and human cancer. Intracellularly, A2 plays a critical ...
"Banding patterns of the chromosomes of the Rhesus monkey (Macaca mulatta)". Journal of Human Evolution 3 (4): 291-295. doi: ... in human blood reacting with anti-rhesus sera and with human isoantibodies". J Exp Med 74 (4): 309-320. PMC 2135190. PMID ... In: Mitruka, B. M., Rawnsley, H. M., Vadehra, D. V., (eds.) Animals for medical research: models for the study of human disease ... "DNA sequence of Rhesus macaque has evolutionary, medical implications" (Nota de prensa). Human Genome Sequencing Center. 13 ...
Perticone, P.; Rizzoni, M.; Palitti, F.; Di Chiara, P. (1974). "Banding patterns of the chromosomes of the Rhesus monkey ( ... "DNA sequence of Rhesus macaque has evolutionary, medical implications" (Press release). Human Genome Sequencing Center. 13. 4. ... Macaca mulatta)". Journal of Human Evolution. 3 (4): 291-295. doi:10.1016/0047-2484(74)90023-2.. ... evolutionary and functional contexts with comparisons to chimpanzees and humans". Journal of Anatomy. Wiley. 215 (3): 320-334. ...
... of anterior segment dysgenesis have been associated with a variety of chromosomal abnormalities involving human chromosomes 4, ... Analogous human disease. The "fetal alcohol syndrome" is a consequence of consumption of alcohol during pregnancy. Affected ... New Alzheimers mouse models show how human diversity affects disease onset * Genetic Tools ... 9, 11, 13-15, 18, 21, and X (reviewed in Smith, 1994), with autosomal dominant and recessive inheritance patterns (Green and ...
... of two independent lineages containing only 8-11 human chromosomes show pleiotropic extinction of thirteen out of fifteen ... correlates with loss of human chromosome 2. The extinguished cells and their reexpressing derivatives have been examined for ... well as a panel of hepatic functions are extinguished and reexpressed in parallel in chromosomally reduced rat hepatoma-human ... well as a panel of hepatic functions are extinguished and reexpressed in parallel in chromosomally reduced rat hepatoma-human ...
The number of chromosomes a nucleus contains will change from species to species (humans have forty-six chromosomes). Also ... The human genome contains 180 rRNA genes located on the tips of five different chromosomes (chromosomes 13, 14, 15, 21, and 22 ... Chromosomes fill much of the nuclear interior, with each chromosome occupying its own neighborhood. In differentiated human ... Boveri rightly predicted that humans inherit traits on the chromosomes.. During nuclear assembly, membranes reattach to ...
Known disorders in humans include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome ... In a Robertsonian translocation, an entire chromosome has attached to another at the Centromere - in humans these only occur ... When the chromosomes structure is altered. This can take several forms:. *Deletions: A portion of the chromosome is missing or ... A chromosome anomaly, abnormality or aberration reflects an atypical number of chromosomes or a structural abnormality in one ...
The P polypeptide is the product of the pink eye dilution locus (named from the mouse) and the counterpart on human chromosome ... Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are both due to a microdeletion on the human chromosome 15q11-13. The P ... 1992) Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization. Genomics 13 ... 1994) A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12- ...
In the human, chromosomes 13,14,15,21 and 22 are acrocentric. In bovine all chromosomes are acrocentric.. (More? Bovine ... Term used to describe all other chromosomes that are not the sex chromosomes in the genome. This term are also used in ... The term decribing all the chromosomes that contribute to a cells genetic material, except for the sex chromosomes X, Y. This ... aneuploid) Genetic term used to describe an abnormal number of chromosomes mainly (90%) due to chromosome malsegregation ...
X Chromosome Is one of the two sex-determining chromosomes in many animal species The X chromosome in humans spans more than ... Human species has in total 46 chromosomes, which are grouped into 23 pairs, each pair consisting of one chromosome from our ... Transcript of human karyotype. The Human. Karyotype Index What´s DNA? Human karyotype Genetic diseases composed of? the central ... Chromosome 2 is submetacentric. Both arms are covered with stripes Chromosomes 1,2,3 (two pairs each) GROUP B Chromosomes 4 and ...
Chromosomes and Human Inheritance. 13. DNA Structure and Function. 14. From DNA to Protein. 15. Controls Over Genes. 16. ...
Buy the Paperback Book Trends In Chromosome Research by Tikaram Sharma at Indigo.ca, Canadas largest bookstore. + Get Free ... chapter ten refers to human in the offing. Application of various molecular meiosis and the next to molecular events in ... The role of chromosome rearrange- ing of chromosome organization. While complex- ments and oncogenes in malignancy and the ... These are exciting days in biology; chromosome such functional attributes of chromosomes as research is no exception. Twenty ...
In contrast, eukaryotes generally have many copies of the rRNA genes organized in tandem repeats; in humans approximately 300- ... on chromosomes 13, 14, 15, 21, and 22. These are transcribed by RNA polymerase I. 5S occurs in tandem arrays (~200-300 true 5S ... 400 rDNA repeats are present in five clusters (on chromosomes 13, 14, 15, 21 and 22). ... genes and many dispersed pseudogenes), the largest one on the chromosome 1q41-42. 5S rRNA is transcribed by RNA polymerase III ...
  • The long arm is fused with the genome and after some cell division, the short arms of each chromosome are lost but this is not of clinical importance (as they contain genes for ribosomal RNA, which are usually present in multiple copies on the other acrocentric chromosomes). (chegg.com)
  • Having an extra copy of this chromosome means that individuals have three copies of each of its genes instead of two, making it difficult for cells to properly control how much protein is made. (wikipedia.org)
  • Genes on chromosome 21 that specifically contribute to the various symptoms of Down syndrome are now being identified. (wikipedia.org)
  • 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)
  • 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)
  • 15. Controls Over Genes. (ecampus.com)
  • These are transcribed by RNA polymerase I. 5S occurs in tandem arrays (~200-300 true 5S genes and many dispersed pseudogenes), the largest one on the chromosome 1q41-42. (bionity.com)
  • The haploid human genome contains ca. 23,000 protein-coding genes , far fewer than had been expected before its sequencing. (thefullwiki.org)
  • There are estimated ca. 23,000 human protein-coding genes . (thefullwiki.org)
  • The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved. (thefullwiki.org)
  • Surprisingly, the number of human genes seems to be less than a factor of two greater than that of many much simpler organisms, such as the roundworm and the fruit fly . (thefullwiki.org)
  • Besides, most human genes have multiple exons , and human introns are frequently much longer than the flanking exons. (thefullwiki.org)
  • Human genes are distributed unevenly across the chromosomes. (thefullwiki.org)
  • In addition to protein coding genes, the human genome contains thousands of RNA genes , including tRNA , ribosomal RNA, microRNA , and other non-coding RNA genes. (thefullwiki.org)
  • These vertebrates have essentially the same genes and regulatory gene sequences as humans, but with only one-eighth the "junk" DNA. (thefullwiki.org)
  • [ 4 ] Aside from genes and known regulatory sequences, the human genome contains vast regions of DNA the function of which, if any, remains unknown. (thefullwiki.org)
  • The short arms also join to form a reciprocal product, which in the acrocentric chromosomes, typically contains nonessential genes and repetitive sequences such as nucleolar organizing regions, and is usually lost within a few cell divisions. (alliedacademies.org)
  • To make studying genes and their mutations easier, scientists have assigned a number to each chromosome in the human DNA chain. (healthline.com)
  • [ 5 ] A NOR is composed of tandem repeats of rRNA genes, which can be found in several different chromosomes. (princeton.edu)
  • Eggen, André 2014-02-05 00:00:00 An extensive and comprehensive radiation hybrid map of bovine Chromosome 15 (BTA15) was built with 42 anonymous markers, 3 ESTs, and 49 genes. (deepdyve.com)
  • The discrepancies are concentrated on closely positioned genes for which discrimination is not possible between mapping resolution limits in either the human or the bovine maps and true local inversions. (deepdyve.com)
  • Genetic exchange between two arms of a chromosome pair is more likely to occur if the distance between the genes is great. (proprofs.com)
  • 1989). E. coli contain seven rRNA genes and human cells contain more than 200 rRNA genes per haploid genome (Alberts et al. (newworldencyclopedia.org)
  • A crucial aim upon the completion of the human genome is the verification and functional annotation of all predicted genes and their protein products. (biomedcentral.com)
  • 1.5 Human rDNA genes: Identification of four fractions, their functions and nucleolar location (Chapter 5). (indigo.ca)
  • Mammals inherit two complete sets of chromosomes, one from the father and one from the mother, and most autosomal genes are expressed from both maternal and paternal alleles. (springer.com)
  • Capsule Disturbances in imprinted genes cause several human diseases involving neurological disorders, obesity, diabetes and malignancies with expression patterns of imprinted genes potentially influenced by the environment including assisted reproductive technology. (springer.com)
  • Computational and experimental identification of novel human imprinted genes. (springer.com)
  • The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. (abnova.com)
  • The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. (abnova.com)
  • A fourth major problem for the alleged fusion signature on chromosome 2 is that it occurs in a region of the genome that is full of genes. (icr.org)
  • This gene is expressed in at least 255 different tissue and cell types in humans and is highly coregulated with many other important genes in the cell. (icr.org)
  • 12 So not only is the gene highly active throughout the human body, it is tightly networked with many other genes, including those that are involved in the development of blood cells. (icr.org)
  • It is common for human genes to have these promoter regions located both in front of the main body of the gene and inside them. (icr.org)
  • However, most functions of SINEs may not be as easily detected as described of above, because they can integrate in gene deserts -regions of the genome where the chromosomes are devoid of any recognizable protein-coding genes-or they may only subtly affect expression of morphogenetic programs. (creation.com)
  • The US22 genes TRS1/IRS1 and UL36 (HCMV) and m128, m142, and m143 (MCMV) and positional homologs to UL36 to UL38 and UL43 of human herpesvirus 6 ( 31 ) are transcribed with immediate-early kinetics. (asm.org)
  • Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. (ornl.gov)
  • In addition, they may help investigate telomere structure and function and can be used in the identification of dosage sensitive genes involved in human genetic disease. (bmj.com)
  • It has a very small genome (130-140 Mbp), five chromosomes and contains almost no repetitive DNA. (tripod.com)
  • 800 repeat units in a human genome. (genecards.org)
  • However, the huge volume of variants, e.g. about 3 million substitutions in a genome for a human individual, does not allow extensive experimental studies. (biomedcentral.com)
  • A distinguishing characteristic of eukaryotes, the nucleus contains the genetic information ( genome ) of the cell in the form of its chromosomes. (encyclopedia.com)
  • As part of The SNP Consortium Allele Frequency Projects, we characterized haplotype patterns across 51 autosomal regions (spanning 13 megabases of the human genome) in samples from Africa, Europe, and Asia. (sciencemag.org)
  • We show that the human genome can be parsed objectively into haplotype blocks: sizable regions over which there is little evidence for historical recombination and within which only a few common haplotypes are observed. (sciencemag.org)
  • Our results provide a foundation for the construction of a haplotype map of the human genome, facilitating comprehensive genetic association studies of human disease. (sciencemag.org)
  • Variation in the human genome sequence plays a powerful but poorly understood role in the etiology of common medical conditions. (sciencemag.org)
  • Europe's most powerful supercomputer , MareNostrum , will be used in human genome research, protein research, weather forecasting and the design of new drugs? (thefullwiki.org)
  • The human genome is the genome of Homo sapiens , which is stored on 23 chromosome pairs. (thefullwiki.org)
  • The haploid human genome occupies a total of just over 3 billion DNA base pairs . (thefullwiki.org)
  • The Human Genome Project (HGP) produced a reference sequence of the euchromatic human genome, which is used worldwide in biomedical sciences . (thefullwiki.org)
  • The human genome has many different regulatory sequences which are crucial to controlling gene expression . (thefullwiki.org)
  • Protein-coding sequences (specifically, coding exons ) comprise less than 1.5% of the human genome. (thefullwiki.org)
  • These regions in fact comprise the vast majority, by some estimates 97%, of the human genome size . (thefullwiki.org)
  • The human IGS also contains a subset of sequences found elsewhere in the genome, such as alu repeats and a cdc27 psuedogene ( 17 ). (asm.org)
  • Furthermore, we demonstrate that peptide identifications obtained from high-throughput proteomics can be integrated on a large scale with the human genome. (biomedcentral.com)
  • The recent definition of the complete nucleotide sequence of the human genome [ 1 , 2 ] has motivated the full annotation of the sequence. (biomedcentral.com)
  • The true promise of the human genome project, to become the foundation for medical and biological research benefiting human health and quality of life [ 3 ], can only be realized if the coding sequences are conclusively identified, intron/exon structures are accurately described and the potential protein products from each gene in different tissues and cellular states are determined. (biomedcentral.com)
  • By combining a large number of experiments sampling different cell and tissue types, the observed peptides can be mapped onto the genome covering a significant part of its chromosomes. (biomedcentral.com)
  • To begin annotating the human genome with protein-level information, we have built PeptideAtlas. (biomedcentral.com)
  • These types of sequences occur at more than 1000 locations in the human genome. (wikipremed.com)
  • 10,11 This author has recently verified that an overall lack of synteny supporting fusion still holds true for over 2.7 million bases surrounding the fusion site based on the most recent version of the chimpanzee genome compared to human (Tomkins, unpublished data). (icr.org)
  • When it was discovered that more than half of the human genome consists of (remnants of) mobile elements, McClintock's ideas were revived and further developed by Roy Britten and Eric Davidson. (creation.com)
  • In another study by the same group, thousands of short identical DNA sequences that are scattered throughout the human genome were analyzed. (creation.com)
  • Betaherpesviruses, which include the CMVs as well as human herpesviruses 6 and 7, differ from alpha- and gammaherpesviruses by the presence of additional gene families such as the US22 gene family, which are mainly clustered at the ends of the genome ( 29 , 30 ). (asm.org)
  • Note that the nucleolar organizer regions (NORs) on the p-arms of the five acrocentric chromosomes (13, 14, 15, 21 and 22) contain clusters of ribosomal DNA repeats and represent the core of the nucleolar genome. (uni-regensburg.de)
  • Human Genome Program, U.S. Department of Energy, Human Genome News (v8n3). (ornl.gov)
  • The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. (ornl.gov)
  • An alternative to whole genome screening is to focus on specific chromosomal regions, and in this article we review the application of chromosome specific probes for the detection of rearrangements involving the ends of chromosomes or telomeres. (bmj.com)
  • Properly regulated and maintained telomeric DNA is essential for normal genome stability and replication;malfunctioning telomeres are associated with natural aging as well as with a broad spectrum of human diseases including the major killers cancer and heart disease. (grantome.com)
  • Identification and characterization of telomeric structural variants will close many of the remaining gaps in the human genome sequence, and will in the long term reveal the universe of common germline subterminal allele structures that exist. (grantome.com)
  • DNA sequences adjacent to (TTAGGG)n tracts participate in its regulation and are needed to study biological mechanisms which occur at individual telomeres;however, these sequences are variable among humans and not well defined in the current human genome sequence. (grantome.com)
  • An apparently balanced de novo constitutional translocation (7;13) (q36;q13) was detected on peripheral lymphocytes and fibroblasts of a 14-month-old boy. (nih.gov)
  • Robertsonian translocation is a rare rearrangement which commonly occurs in acrocentric chromosomes. (chegg.com)
  • Once translocation chromosomes have been formed, they can be passed on to offspring. (chegg.com)
  • The two major two-chromosome mutations: insertion (1) and Translocation (2). (wikipedia.org)
  • There are two main types of translocations: Reciprocal translocation: Segments from two different chromosomes have been exchanged. (wikipedia.org)
  • Rob translocation homozygosity could be seen as a potential speciation in humans with 44 chromosomes. (alliedacademies.org)
  • Rob translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. (alliedacademies.org)
  • During a Rob translocation, the participating chromosomes break at their centromeres and the long arms fuse to form a single chromosome with a single centromere. (alliedacademies.org)
  • Translocation between chromosomes 13 and 14 is the most frequent one in humans, estimated to be approximately 75% of all Rob translocations. (alliedacademies.org)
  • Since Rob translocation carriers have a balanced chromosomal complement, they are healthy and have a normal lifespan, and may be unaware of their unusual chromosome rearrangement. (alliedacademies.org)
  • A Robertsonian translocation is the most common kind of human chromosome translocation. (healthline.com)
  • A Robertsonian translocation effects acrocentric chromosomes. (healthline.com)
  • In a Robertsonian translocation, acrocentric chromosomes fuse together. (healthline.com)
  • A Robertsonian translocation can also result in an extra copy of one chromosome being included in your DNA. (healthline.com)
  • Since chromosomes come in pairs, you can have a Robertsonian translocation that disrupts your DNA strand, but leaves you with all of the genetic information that you need for your cells to multiply correctly. (healthline.com)
  • If your Robertsonian translocation fuses another chromosome with chromosome 21, you may be genetically more predisposed to have a baby with Down syndrome. (healthline.com)
  • We have found a Robertsonian translocation family, one of them who came from a consanguinous marriage has the previously undescribed balanced human karyotype 44,XY,der(14;15)(q10;q10), der(14;15)(q10;q10). (biomedres.info)
  • Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. (biomedres.info)
  • Since Robertsonian translocation carriers have a balanced chromosomal complement, they are healthy and have a normal lifespan, and may be unaware of their unusual chromosome rearrangement. (biomedres.info)
  • Karyotype of the proband of the study, 44,XY,der(14;15)(q10;q10),der(14;15)(q10;q10), having disomy for the Robertsonian translocation chromosome (arrows). (biomedres.info)
  • The intestinal tract is an important barrier for preventing bacterial translocation and endotoxin entering human organs. (hindawi.com)
  • 12. Chromosomes and Human Inheritance. (ecampus.com)
  • Inheritance of a mutation at the Rb-1 locus, which has been mapped to band q14 of human chromosome 13, results in predisposition to retinoblastoma. (nih.gov)
  • In human genetics we focus on Mendelian inheritance and molecular genetics as those subjects impact the phenotypic traits and medical health of human beings. (wikipremed.com)
  • Know how to apply Mendelian concepts to human genetics including interpreting a pedigree chart for patterns of inheritance as well as sex-linked traits. (wikipremed.com)
  • The clinical features and the chromosome aberrations as present in the proband are usually found in chromosomal breakage syndromes, but it was possible to exclude each of the classical chromosomal breakage syndromes on clinical and/or cytogenetic grounds. (nih.gov)
  • 6. Cytogenetics: Karyotypes and Chromosome Aberrations. (barnesandnoble.com)
  • A chromosome with its centromere towards one end. (tripod.com)
  • An entire chromosome has attached to another at the centromere - in humans these only occur with chromosomes 13, 14, 15, 21, and 22. (wikipedia.org)
  • Formed by the mirror image copy of a chromosome segment including the centromere. (wikipedia.org)
  • His current research interests involve the organization of DNA sequences in the short-arm and centromere region of human chromosome 21. (cengage.com)
  • Multicolor hybridization on rhesus macaque chromosomes [ Macaca mulatta (MMU) 2 n = 42, where n is the haploid number of chromosomes] of about 500 evenly spaced human bacterial artificial chromosome (BAC) clones revealed that seven macaque/human homologs (chromosomes 6/5, 8/8, 11/12, 17/13, 19/19, 20/16, and X/X, respectively) were colinear when the position of the centromere was excluded. (sciencemag.org)
  • The human ANXA2 gene consists of 13 exons distributed over 40 kb of genomic DNA on chromosome 15 (15q21) [ 4 ]. (hindawi.com)
  • Mutations are distributed throughout exons 3 to 15, most of them being identified in exons 5, 12, 13, and 14. (uzh.ch)
  • 2012 ). It counts 2201 bp and contains 15 exons. (springer.com)
  • Acrocentric chromosomes are those that have their centromeres located close to one end, instead of closer to the center. (chegg.com)
  • The 400 copies of the human rDNA repeat are distributed among five NORs on the p-arms of acrocentric chromosomes 13, 14, 15, 21, and 22 ( 30 ). (asm.org)
  • Chromosomal translocations are events that take place in the cell nucleus where portions of DNA move from one chromosome to another non-homologous chromosome. (chegg.com)
  • These chromosomal arrangements involve two homologous or non-homologous chromosome which breaks at their centromeric region. (chegg.com)
  • Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene . (wikipedia.org)
  • Chromosome instability syndromes are a group of disorders characterized by chromosomal instability and breakage. (wikipedia.org)
  • The homologous chromosomal pairs (matching chromosomes derived from mother and father) do not necessarily lie next to each other. (encyclopedia.com)
  • While complex- ments and oncogenes in malignancy and the ities of older questions of chromosome/ parallelism between the neoplastic and phy- chromatin organization are being understood, logenetic chromosomal alterations are discussed newer dimensions and perspectives have been in the next two chapters. (indigo.ca)
  • Note that in this useage length may in fact be 'length' because chromosomal length is often defined in terms of recombination rates and a related concept of centiMorgans (cM), and dependending upon what text a person is reading, physical length of an autosomal chromosome is not quite the equivalent of 'length' defined in cM units. (bio.net)
  • Be prepared to describe the karyotype and symptoms associated with the most prominent human chromosomal, allelic (autosomal), and sex-linked genetic abnormalities. (wikipremed.com)
  • Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder. (wikipremed.com)
  • Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. (wikipremed.com)
  • Y-chromosomal Adam is the patrilineal human most recent common ancestor from whom all Y chromosomes in living men are descended. (wikipremed.com)
  • The evolution of comprehensive chromosomal screening (CCS) of preimplantation embryos has progressed to cytogenetic testing of chromosome number of blastomeres from cleavage stage embryos for a small panel of common aneuploidies, to molecular genetic testing for all autosomes and sex chromosomes from trophectoderm biopsies. (cfas.ca)
  • Distribution of nucleolus-associated chromosomal domains (NADs) together with satellite repeats along human chromosomes. (uni-regensburg.de)
  • Chromosomal rearrangements involving the ends of chromosomes (telomeres) are emerging as an important cause of human genetic diseases. (bmj.com)
  • Gene and RefSeq, in collaboration with HGNC, currently describe one 45S rDNA cluster, and one set of 45S precursor and product rRNAs, for each of the five human chromosomes to which these loci are localized. (genecards.org)
  • Cloned DNA segments homologous to arbitrary loci of human chromosome 13 and which reveal polymorphic restriction endonuclease recognition sequences, have been used to look for somatic genetic events that might occur during tumorigenesis. (nih.gov)
  • We also used 17 Y short tandem repeat loci in the non-recombining portion of the Y chromosome. (daum.net)
  • 15 All told, the loci responsible for a significant proportion of hereditary causes of ataxias still have not been elucidated. (bmj.com)
  • These rDNA units are organized in large tandem arrays, the rDNA loci, on one or a small number of chromosomes. (genetics.org)
  • Change in microsatellite repeat number was noted at 9/10 microsatellite loci in different HCCs, and changes at two or more loci were detected in 15%(3/20) of subjects. (wjgnet.com)
  • Each chromosome is specifically anchored through its telomeres to a discrete place on the nuclear envelope by the proteins of the nuclear lamina. (encyclopedia.com)
  • However, human cells make extensive use of alternative splicing to produce several different proteins from a single gene, and the human proteome is thought to be much larger than those of the aforementioned organisms. (thefullwiki.org)
  • With each mammalian cell having millions of ribosomes, and with the human body having many trillions of cells, it is striking to consider how massive, complex, and intricately coordinated is this process of producing proteins for the human body . (newworldencyclopedia.org)
  • It is well known that the usual banding procedures (C-, G-, R- and T-) reveal the underlying structure and composition of DNA and associated proteins in mitotic chromosomes (Therman and Susman, 1993). (scielo.br)
  • Public Health Relevance: The tips of human chromosomes have a variable stretch of (TTAGGG)n sequence;this sequence and associated proteins act to ensure proper replication of our genetic material and the stability of our chromosomes. (grantome.com)
  • ROS has been well known to be associated with oxidative stress [ 9 - 12 ] by damaging lipids, proteins, and DNA [ 13 ]. (hindawi.com)
  • Most chromosome abnormalities occur as an accident in the egg cell or sperm, and therefore the anomaly is present in every cell of the body. (wikipedia.org)
  • These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or more individual chromosomes are altered. (wikipedia.org)
  • Chromosome abnormalities may be detected or confirmed by comparing an individual's karyotype, or full set of chromosomes, to a typical karyotype for the species via genetic testing. (wikipedia.org)
  • Duration: February 15, 2017 - February 14, 2018. (birzeit.edu)
  • A chromosome anomaly , abnormality or aberration reflects an atypical number of chromosomes or a structural abnormality in one or more chromosomes.A Karyotype refers to a full set of chromosomes from an individual which can be compared to a "normal" Karyotype for the species via genetic testing . (thefullwiki.org)
  • 15. Genomes and Genomics. (barnesandnoble.com)
  • HCMV, MCMV, and rat CMV display the largest genomes among the herpesviruses ( 13 , 34 , 43 ). (asm.org)
  • In case of humans, Robertsonian translocations occur between chromosome 14 and chromosomes 13, 15 or 21. (chegg.com)
  • Case Report: Potential Speciation in Humans Involving Robertsonian Translocations. (biomedres.info)
  • VariO terms describe local DNA changes, chromosome number and structure variants, chromatin alterations, as well as genomic changes, whether of genetic or non-genetic origin. (biomedcentral.com)
  • Another comparative genomic approach to locating regulatory sequences in humans is the gene sequencing of the puffer fish . (thefullwiki.org)
  • To understand the dynamics of ENC formation and progression, we compared the ENC of macaque chromosome 4 with the human orthologous region, at 6q24.3, that conserves the ancestral genomic organization. (sciencemag.org)
  • Then, we characterized in detail a macaque ENC and compared it to the orthologous domain in humans, which represents the ancestral genomic structure before ENC seeding. (sciencemag.org)
  • Genomic imprinting has been studied in humans since the early 1980's and accounts for several human disorders. (springer.com)
  • This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. (abnova.com)
  • This study represents the first integrated analysis of miRNA expression, mRNA expression and genomic changes in human breast cancer and may serve as a basis for functional studies of the role of miRNAs in the etiology of breast cancer. (biomedcentral.com)
  • Each condition of albinism is due to a genetic mutation on a different chromosome. (bmj.com)
  • In Rob translocations, at the end of meiosis I, segregation of the translocated and nontranslocated chromosomes from the two different chromosome pairs implicated leads to the formation of either balanced (alternate segregation mode) or unbalanced (adjacent 1, adjacent 2, and 3:1 segregation modes) gametes [ 2 , 3 ], which can segregate in different ways at anaphase. (alliedacademies.org)
  • 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)
  • Twenty-two of these are autosomal chromosome pairs , while the remaining pair is sex-determining . (thefullwiki.org)
  • Since DNA chromosomes are linked together into 23 pairs, having an odd number of chromosomes can sometimes indicate that essential genetic information is missing from your DNA. (healthline.com)
  • Nondisjunction is the failure of chromosome pairs to separate properly during meiosis or mitosis. (wikipremed.com)
  • Chromosomes pairs 13, 14, 15, 19, 20, 21, 22 and the Y chromosome were excluded from the analyses because of their small short arm and length which prevent a detailed quantitative analysis of the terminal chromosome region. (scielo.br)
  • 14 Chromosome Alterations in Speciation and Neoplastic Transformation: A Parallelism. (indigo.ca)
  • meaning all those human-related genera of tribe Hominini that arose after speciation from the line with Pan. (wikipedia.org)
  • In addition, the VIGE hypothesis may be a framework to understand the origin of diseases and explain rapid speciation events through facilitated chromosome swapping. (creation.com)
  • 8 Steroid Sulphatase Inactivation Patterns and X-chromosome Inactivation. (indigo.ca)
  • 3. differences in replication timing of the X and Y chromosomes -- i.e., among human males, the Y and X chromosomes have replication-timimg patterns different from the replication-timing patterns of the active X and the inactive X chromosomes in human females. (bio.net)
  • These patterns were confirmed by scanning T-banded endoreduplicated CHO chromosomes in which the same interchromatid distribution of HD chromatin appeared in both sister chromosomes (Drets and Mendizábal, 1998). (scielo.br)
  • 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)
  • The karyotyping analysis of IV-1 is Authenticated by the Chinese Academic Committee of the state key laboratory of medical genetics with the previously undescribed balanced human karyotype 44,XY,der(14;15)(q10;q10),der(14;15)(q10;q10). (biomedres.info)
  • Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis . (wikipedia.org)
  • Models for regulation of chromosome cohesion in mitosis and meiosis. (plos.org)
  • A) In mitosis, cohesin (red rings) is phosphorylated and removed from chromosome arms by the "prophase pathway. (plos.org)
  • In meiosis II, as in mitosis, the movement of shugoshin-PP2A away from inner centromeres on bi-oriented chromosomes allows cohesin between sisters to be phosphorylated and cleaved by separase [5] , [6] . (plos.org)
  • A more detailed example of this error is given in Table One of two copies of a replicated chromosome during mitosis. (joeshammas.com)
  • [1] It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. (wikipedia.org)
  • alphoid repeat sequences (satellite DNA) of the X and Y chromosomes. (bio.net)
  • Here, we utilize chromatin immunoprecipitation from a highly enriched nucleolar chromatin fraction to show for the first time that UBF binding in vivo is not restricted to known regulatory sequences but extends across the entire intergenic spacer and transcribed region of Xenopus , human, and mouse rDNA repeats. (asm.org)
  • Sequences both distal and proximal to human NORs are comprised of satellite DNA packaged as heterochromatin ( 11 , 53 , 56 , 60 ). (asm.org)
  • Naturally occurring mutations in humans show that chromosomes without subtelomeric repeats can be inherited normally, implying that the sequences have no important biological role. (bmj.com)
  • The three major single-chromosome mutations: deletion (1), duplication (2) and inversion (3). (wikipedia.org)
  • Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5. (wikipremed.com)
  • Sixty percent of AS patients demonstrate a chromosome 15qll- 13 cytogenetic or molecular deletion. (docme.ru)
  • The remaining patients have either no detectable deletion (-35%) or uniparental disomy (- 5%) where both chromosome 15 alleles are contributed by the father [4].Affected patients present with severe mental retardation, absent speech or very poor language skills, microbrachycephaly, inappropriate laughter, seizures, abnormal electroencephalographic (EEG) activity, and a characteristic 'puppetlike' motor pattern consisting of ataxic gait, tremulousness, and jerky limb movements [ 1, 5- lo]. (docme.ru)
  • The first report in humans occurred in Prader-Willi syndrome due to a paternal deletion of chromosome 15 or uniparental disomy 15 (both chromosome 15s from only one parent) and similar genetic disturbances were reported later in Angelman syndrome. (springer.com)
  • Parental origin of chromosome 15 deletion in Prader-Willi syndrome. (springer.com)
  • Human Mutation, 30(3):300-307. (uzh.ch)
  • The mutation G390R in exon 15 is the single most common mutation in patients with the classical phenotype. (uzh.ch)
  • Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. (springer.com)
  • Even if you assume an evolutionary timeline of up to six million years since the fusion event occurred, the data do not match up with known mutation rates or the variability found in human DNA. (icr.org)
  • in humans approximately 300-400 rDNA repeats are present in five clusters (on chromosomes 13, 14, 15, 21 and 22). (bionity.com)
  • The 45S rDNA organized into 5 clusters (each has 30-40 repeats) on chromosomes 13, 14, 15, 21, and 22. (bionity.com)
  • The IGSs in Xenopus and human rDNA repeats are 4 ( 8 ) and 30 ( 17 ) kb, respectively. (asm.org)
  • Presumably, these latter elements are not directly involved in the regulation of human rDNA transcription. (asm.org)
  • In mouse cells that contain individual human chromosomes, UBF can be found associated with human rDNA despite its transcriptional silence ( 55 ). (asm.org)
  • The rDNA present on some chromosomes are still active (yellow and blue). (biologists.org)
  • Cytogenetic studies in the proband revealed a typical form of chromosome instability with multiple rearrangements of chromosomes 7 and 14. (nih.gov)
  • Critically short (TTAGGG)n tracts trigger cells to stop dividing or to self-destruct;if they do not, chromosome instability and perhaps cancer ensues. (grantome.com)
  • We showed a profound sensitivity of BRCA-deficient cells to inhibition of poly(ADP-ribose) polymerase (PARP), which resulted in cell cycle arrest, chromosome instability, and cell death ( 8 ). (aacrjournals.org)
  • In this condition the "male" has the normal number of autosomes (44) but an extra X sex chromosome --44 autosomes +XXY. (gradesaver.com)
  • Klinefelter's syndrome or XXY syndrome is a condition caused by a chromosome aneuploidy in which affected males have an extra X sex chromosome. (wikipremed.com)
  • Application of various molecular meiosis and the next to molecular events in techniques in chromosome research has subse- meiotic prophase in the baker's yeast. (indigo.ca)
  • Occasionally, chromosomes fail to separate during meiosis, leading to a condition in which the diploid number is not normal. (proprofs.com)
  • In meiosis, cohesion between chromosome arms facilitates segregation of recombined homologues during meiosis I by stabilizing the physical linkages (chiasmata) between them, and cohesion between centromeres is essential for accurate segregation of sisters in meiosis II [1] , [2] . (plos.org)
  • B) In meiosis I, phosphorylated cohesin linking sister chromosome arms is cleaved by separase, allowing recombined homologues to segregate. (plos.org)
  • Y linked Y-linked disorders are caused by mutations on the Y chromosome. (prezi.com)
  • This is a comprehensive report of all 87 mutations found to date in the ASS1 gene on chromosome 9q34.1. (uzh.ch)
  • Aneuploidy can be full, involving a whole chromosome missing or added, or partial, where only part of a chromosome is missing or added. (wikipedia.org)
  • Aneuploidy can occur with sex chromosomes or autosomes. (wikipedia.org)
  • The higher frequencies of aneuploidy for sex chromosome were observed. (alliedacademies.org)
  • XYY syndrome is an aneuploidy of the sex chromosomes in which a human male receives an extra Y chromosome. (wikipremed.com)
  • To understand the concept associated with an end-to-end fusion model, it is important to know what the ends of chromosomes, telomeres , look like. (icr.org)
  • He is engaged in a collaborative effort to construct a physical map of this region of chromosome 21 for the purpose of exploring molecular mechanisms of chromosome interactions. (cengage.com)
  • He previously discovered that the PWS region of chromosome 15 is unique in that the timing of DNA replication on the father's chromosome is very different than the replication of DNA on the maternal chromosome 15. (fpwr.org)
  • Known human disorders include Charcot-Marie-Tooth disease type 1A , which may be caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. (wikipedia.org)
  • Together, these new findings suggest that manipulation of the annexin A2/S100A10 system may offer promising new avenues for treatment of a spectrum of human disorders. (hindawi.com)
  • Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today's genetics teaching, and includes updated discussion of genetic risk assessment, "single gene" disorders and therapeutics. (wiley.com)
  • Almost half of the DMRs (48.4%) were directly linked to common human diseases, including neurodegenerative disorders such as Alzheimer's and Parkinson's diseases. (longecity.org)
  • This fourth edition of the best-selling textbook, Human Genetics and Genomics , clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. (wiley.com)
  • The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline. (wiley.com)
  • The perfect companion to the genetics component of both PBL and Integrated medical courses, Human Genetics and Genomics 4e, presents the perfect balance between the bio molecular basics of genetics and clinical cases and snapshots, and is fully supported with online supplements. (wiley.com)
  • A systematic fluorescence in situ hybridization comparison of macaque and human synteny organization disclosed five additional macaque evolutionary new centromeres (ENCs) for a total of nine ENCs. (sciencemag.org)
  • Cohesin at centromeres, however, is protected by shugoshin-PP2A, so that sister chromosomes remain together. (plos.org)
  • NADs are labeled with red, NORs with light red, satellite repeats with deep blue, centromeres with yellow and chromosomes with light blue. (uni-regensburg.de)
  • 2. within the X,Y pseudoautosomal regions, an RNA protein that is similar but different on the X and Y chromosomes. (bio.net)
  • Protein is associated with determining human cerebral cortical size, possibly by maintaining symmetric cleavage plane orientation in neuroepithelial cells during brain development. (edu.au)
  • In vitro transcription studies have identified upstream binding factor (UBF), the TATA-binding protein containing complex SL1 in humans ( 13 ), TIF-1B in mice ( 52 ), and Rib 1 in Xenopus ( 6 ). (asm.org)
  • Human PCDHA12 partial ORF ( NP_061726, 222 a.a. - 327 a.a.) recombinant protein with GST-tag at N-terminal. (abnova.com)
  • Human PCDHA9 partial ORF ( NP_114063, 284 a.a. - 381 a.a.) recombinant protein with GST-tag at N-terminal. (abnova.com)
  • In the laboratory of Edward Rubin at the University of California, Berkeley, postdoctoral fellow Nadav Ahituv combined the human version of the LF-SINE sequence with a "reporter" gene that would produce an easily recognizable protein if the LF-SINE were serving as its on-off switch. (creation.com)
  • The HA-MRSA strains contain the mobile class I, II and III staphylococcus chromosome cassettes mec (SCCmec) and resistance to the b-lactam antibiotics is due to the encoding of the penicillin binding protein (PBP) 2a by the mecA gene [12e14]. (scribd.com)
  • Telomeres are DNA-protein complexes that protect the end of linear chromosomes from degradation, fusion, or DNA repair processes17,18,19. (longecity.org)
  • Basic helix-loop-helix family, member e41 ", or BHLHE41 , is a gene that encodes a basic helix-loop-helix transcription factor repressor protein in various tissues of both humans and mice. (wikipedia.org)
  • The homozygosity in these cases results from mitotic nondisjunction, resulting in loss of the homologous wild-type chromosome, or from a mitotic recombination event. (nih.gov)
  • Cohesion between sister chromosomes is a critical mechanism used by eukaryotic cells to accomplish accurate chromosome segregation. (plos.org)
  • Similarly, keeping sister chromosomes together following DNA replication allows them to be efficiently sorted during cell division. (plos.org)
  • In humans, an example of a condition caused by a numerical anomaly is Down Syndrome , also known as Trisomy 21 (an individual with Down Syndrome has three copies of chromosome 21, rather than two). (thefullwiki.org)
  • A trisomy is a genetic alteration in which there is an extra copy of a chromosome in a DNA strand, throwing the chain off balance. (healthline.com)
  • Down syndrome or trisomy 21 is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. (wikipremed.com)
  • While a few babies with trisomy 13 or 21 will survive, those with trisomy 14, 15, or 22 usually miscarry in the first twelve weeks. (biomedres.info)
  • HUMAN HEREDITY engages non-Biology majors with concepts and examples that they can apply to themselves, their families, and their work environment. (cengage.com)
  • At the undergraduate level, he has focused on teaching genetics, human genetics for non-majors, and general biology to majors and non-majors. (cengage.com)
  • Human genetics encompasses all of the other topics of genetics and molecular biology. (wikipremed.com)
  • He has published in numerous scientific and clinical journals, including Biology of Reproduction, Journal of Clinical Endocrinology and Metabolism, Fertility and Sterility, and Human Reproduction. (cfas.ca)
  • Molecular biology and evolution 24,doi: The open access movement gained popularity after the Budapest meeting of the Open Society Institute in Cavalli-Sforza et al concluded in their enormous effort to work out the genetic relationships among human populations that two-dimensional scatter plots obtained by correspondence analysis frequently resemble geographic maps of the populations with some distortions Cavalli-Sforza et al. (joeshammas.com)
  • Human Biology helps students understand the main themes of biology through the lens of the human body. (mheducation.com)
  • Human Biology features three different types of boxed readings. (mheducation.com)
  • 6 Comparative Aspects of Chromosome Replication in Drosophila and Mammals. (indigo.ca)
  • A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. (wiley.com)
  • The possible relationship of this observation to the mode of replication of the terminal chromosome region is briefly discussed. (scielo.br)
  • Analysis of sperm chromosomes was done by fluorescence in situ hybridization (FISH). (alliedacademies.org)
  • When the chromosomes reach the mitotic poles, the nuclear envelope reforms while chromatin decondenses to form chromosome territories (for a review, see Cremer and Cremer, 2001 ). (biologists.org)
  • Previous research using microdensitometric scanning and computer graphic image analysis showed that T-banded segments of human metaphase chromosomes usually exhibit an asymmetrical distribution of high density (HD) chromatin between sister chromatids. (scielo.br)
  • Here, we employed the same methods to analyze HD chromatin distribution at opposite ends of T-banded human lymphocyte chromosomes. (scielo.br)
  • This study revealed that in most chromosomes with an asymmetrical distribution of HD chromatin at both ends, the highest densities of each arm were located in opposite chromatids. (scielo.br)
  • The frequency of this configuration was 0.792 per chromosome, indicating that the highest chromatin densities of the terminal segments of T-banded human chromosomes were non-randomly distributed at opposite chromosome arms. (scielo.br)
  • Microdensitometric scanning and computer graphic image analysis of high-resolution microphotographs of T-banded segments of human and Chinese Hamster Ovary (CHO) chromosomes allowed the detection of a differential distribution of HD sub-telomeric chromatin between sister chromatids. (scielo.br)
  • Nevertheless, quantitative computerized microdensitometrical analyses on the distribution of HD chromatin at opposite ends of T-banded chromosomes have not yet been reported. (scielo.br)
  • Therefore, we performed microdensitometric scanning and computer graphic image analysis to study HD chromatin distribution at T-banded human chromosomes that showed asymmetry at opposite ends. (scielo.br)
  • 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)
  • The Pol I transcription machinery, however, remains associated with NORs on mitotic chromosomes ( 54 ). (asm.org)
  • Even more, novel chromosome techniques tion by flow cytometry, and mapping of structural- have become an integral component of clinical ly and functionally distinct domains on metaphase and molecular genetic methodologies. (indigo.ca)
  • 1 DNA Organization in the Interphase Nucleus and Metaphase Chromosome. (indigo.ca)
  • Antibody staining of metaphase chromosomes confirms the presence of two classes of NOR in human cells, active and inactive ( 21 , 50 , 61 ). (asm.org)
  • 2004) confer high resistance to heat denaturation to the terminal regions of metaphase chromosomes which results in selective staining after T-banding (Dutrillaux, 1973). (scielo.br)
  • In chromosome fusion events that occur in nature in living mammals-a very rare event-the DNA signature always involves satDNA producing a DNA signature that occurs as either satDNA-satDNA or satDNA-teloDNA sequence. (icr.org)
  • Until recently, screening for telomeric rearrangements has been hampered by the complexity of the sequence structure of chromosome ends 8-13 and the technical problem of designing a highly sensitive and specific assay which would also be cost effective. (bmj.com)
  • After the chromosomes have segregated to the new daughter cells, the nucleus and its components must be rebuilt. (encyclopedia.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)
  • Inside of each of your cells are thread-like structures made up of parts called chromosomes. (healthline.com)
  • How many Barr bodies does a normal human female contain in her cells? (proprofs.com)
  • Nucleolus cycle in human cells. (biologists.org)
  • Gametchu B, Watson C, Wu S. Use of receptor antibodies to demonstrate membrane glucocorticoid receptor in cells from human leukemic patients. (springer.com)
  • However, telomerase expression levels in mammalian adult cells are not sufficient to preserve the original length of telomeres, resulting in the progressive shortening of chromosomes throughout life20,22,23,24. (longecity.org)
  • 2005, "Efficient Differentiation of Human Embryonic Stem Cells to Definitive Endoderm," Nature Biotechnology, 23(12):1534-1541. (patentgenius.com)
  • 2005, "TGFb/Activin/Nodal Signaling is Necessary for the Maintenance of Pluripotency in Human Embryonic Stem Cells," Development, 132:1273-1282. (patentgenius.com)
  • Oxidative stress is an important contributor to the damage of vascular cells [ 14 ] and the pathogenesis of hypoxia/reoxygenation injury [ 15 ]. (hindawi.com)
  • Advances in techniques for analysing single cells and tissues have inspired an international effort to create comprehensive reference maps of all human cells - the fundamental units of life - as a basis for both understanding human health and diagnosing, monitoring and treating disease. (elifesciences.org)
  • Falk MJ, Curtis CA, Bass NE, Zinn AB, Schwartz S. Maternal uniparental disomy chromosome 14: case report and literature review. (springer.com)
  • Rat hepatoma-human fibroblast hybrids of two independent lineages containing only 8-11 human chromosomes show pleiotropic extinction of thirteen out of fifteen hepatic functions examined. (rupress.org)
  • They reveal the temporal continuity of Y chromosome lineages in populations of the West Liao River valley over 5000 years, with a concurrent increase in lineage diversity caused by an influx of immigrants from other populations. (daum.net)
  • First, the majority of translocations involve chromosome ends and therefore an assay that targets telomeres will detect all of these with 100% sensitivity regardless of size. (bmj.com)
  • 13 Chromosome Alterations and Oncogenes in Human Neoplasia. (indigo.ca)
  • Reexpression of the entire group of functions most often occurs in a block, and except for one discordant subclone, correlates with loss of human chromosome 2. (rupress.org)
  • It is only recently that a phase chromosomes are structurally not homo- molecular view of the meiotic cell division is geneous through their length, a new world was beginning to emerge: chapter ten refers to human in the offing. (indigo.ca)
  • The availability of human MM cell lines (HMCLs) has been of critical importance in revealing many of the molecular and biological aspects of MM. Over the last few years, recurrent nonrandom genetic lesions have been identified that seem to correlate with the clinical course of MM and its response to therapy. (springer.com)
  • However, the molecular basis underlying these beneficial effects of meditation on human health still remains unclear. (longecity.org)
  • The Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries. (wiley.com)
  • It is also an excellent reference for researchers and physicians who need a clinically relevant reference for the molecular genetics of inherited human diseases. (wiley.com)
  • I would recommend this text to students studying human molecular genetics as well as those involved in their instruction. (wiley.com)
  • The role of PI3K/AKT, MAPK/ERK and NF kappa beta signaling in the maintenance of human embryonic stem celll pluripotency and viability highlighted by transcriptional profiling and functional analysis," Human Molecular Genetics15:1460-2083,2006. (patentgenius.com)
  • M. Serratosa, M D t Angelman syndrome (AS) results from lack of genetic contribution from maternal chromosome 15qll-13. (docme.ru)
  • Ann Neurol 1996;40:39-48 Angelman syndrome (AS) [I] is a neurogenetic disorder resulting from lack of genetic contribution from maternal chromosome 15qll-I3 [2, 31. (docme.ru)
  • The range of changes is very wide, from single nucleotide substitutions to changes in the number of entire chromosome sets. (biomedcentral.com)
  • In Drosophila, the sex of an individual is influenced by the number of copies of which chromosome? (proprofs.com)
  • The principles of VariO are presented along with examples from published articles or databases, most often in relation to human diseases. (biomedcentral.com)
  • Examples are presented to highlight the different features of variants, usually in the context of human diseases. (biomedcentral.com)
  • There are estimated to be over 4000 human diseases caused by single gene defects. (prezi.com)
  • Because the vast majority of heterozygosity in the human population is attributable to common variants and because the evolutionary history of common human diseases (which determined the allele spectrum for causal alleles) is not yet known, one promising approach is to comprehensively test common genetic variation for association to medical conditions ( 1-3 ). (sciencemag.org)
  • Malfunction of nucleoli can be the cause for several human diseases. (princeton.edu)
  • 1 A number of genetic diseases associated with telomeric rearrangements have already been documented and the apparent enrichment for rearrangements suggests that submicroscopic, telomeric anomalies might be responsible for additional human genetic diseases. (bmj.com)
  • This book also brings together work from several different species, from human to Drosophila to Dictyostelium and other eukaryotic microbes. (indigo.ca)
  • The ends of all eukaryotic chromosomes are composed of a TG rich repeat, which in all vertebrates is (TTAGGG)n, ranging from 2 to 15 kb in length. (bmj.com)
  • A portion of one chromosome is transferred to another chromosome. (wikipedia.org)
  • A portion of one chromosome has been deleted from its normal place and inserted into another chromosome. (wikipedia.org)
  • The chimpanzee-human last common ancestor , or CHLCA , is the last common ancestor shared by the extant Homo ( human ) and Pan ( chimpanzee and bonobo ) genera of Hominini . (wikipedia.org)
  • The range extension of rhesus macaque - a natural process in some areas, and a direct consequence of introduction by humans in other regions - poses grave implications for the endemic and declining populations of bonnet macaques in southern India. (wikipedia.org)