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 monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18. (1/140)

A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a duplication of the distal one-third of the long arm and a deficiency of the terminal segment of the short arm. The relative length of the inverted segment represents about 60% of the total chromosome 18 length. The probability of recombinant formation following the occurrence of a chiasma within the inverted segment is predicted to be high.  (+info)

Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat. (2/140)

The case is presented of an infant who was diagnosed clinically as trisomy 18 with pseudohermaphroditism. Cytogenetic studies revealed an extra chromosome which represented a translocation chromosome derived from a balanced, reciprocal translocation between chromosomes 16 and 18: [der(18),t(16;18)(p12;q11)mat]. The infant's mother and a number of her relatives were found to be translocation carriers: ]46,XX,t(16;18)(p12;q11)].  (+info)

G-banding analysis of complex aneuploidy in multiple myeloma bone marrow cells. (3/140)

Chromosome studies with the banding technique have been performed in a considerable number of cases of myeloproliferative diseases, but technical difficulties have so far prevented detailed studies of chromosomal abnormalities in multiple myeloma. The karyotypes of bone marrow cells from two patients with multiple myeloma have been analyzed by a trypsin-Giemsa banding technique. Evidence is given for clonal evolution which in one patient has probably occurred by cell fusion and subsequent chromosome loss. Eight different marker chromosomes are characterized. Nonrandom chromosomal participation in the translocations and the existence of specific vulnerable points on chromosomes 1, 3, and 16 are suggested.  (+info)

Chromosomal banding patterns in acute nonlymphocytic leukemia. (4/140)

Bone marrow chromosomes obtained from 50 of 55 consecutive adult patients with acute nonlymphocytic leukemia were analyzed with quinacrine fluorescence. Twenty-five patients showed a normal karyotype and 25 an abnormal karyotype on the initial samples available for analysis. Among the 25 patients with abnormalities, the marrow cells contained 48 chromosomes in one case, 47 in two, 46 in ten, 45 in nine, 43 in two, and 42 chromosomes in one case. Seven of the ten patients with 46 chromosomes had abnormalities, primarily balanced translocations, that were not detected with the standard Giemsa stains. The analysis of all of the data available revealed the presence of nonrandom chromosome changes such as the addition of No. 8, the loss of No. 7, and a gain or loss of one No. 21. the most frequent structural rearrangement was the translocation between the long arm of No. 8 and No. 21, which may also be associated with the loss of a sex chromosome. Chromosomal abnormalities decreased or disappeared during remission; the same abnormality recurred in relapse. Chemotherapy did not appear to produce a stable clone of aberrant cells. Evolution of the karyotype occurred in eight patients, in five of whom an additional No. 8 was observed. This pattern of chromosomal evolution in patients with acute leukemia was very similar to that observed in patients with chronic myelogenous leukemia in the blast phase.  (+info)

Trisomy 21 with 47,+18 lymphocyte cell line: double mitotic nondisjunction. (5/140)

A patient with Down's syndrome was found to have 47,XX,+18/47,XX,+21 mosaicism. Chromosome 18 trisomy was found only in 18% of lymphocytes and not in skin fibroblasts. A likely interpretation is double nondisjunction in a single lymphocyte precursor of a trisomy 21 embryo. A brief review of other cases of mitotic multiple nondisjunction and double aneuploid mosiacism is presented.  (+info)

Nature of telomere dimers and chromosome looping in human spermatozoa. (6/140)

Specific and well-organized chromosome architecture in human sperm cells is supported by the prominent interactions between centromeres and between telomeres. The telomere-telomere interactions result in telomere dimers that are positioned at the nuclear periphery. It is unknown whether composition of sperm telomere dimers is random or specific. We now report that telomere dimers result from specific interactions between the two ends of each chromosome. FISH using pairs of subtelomeric DNA probes that correspond to the small and long arms of seven human chromosomes demonstrates that subtelomeres of one chromosome are brought together. Statistical analysis confirmed that telomere associations could not result from the random proximity of DNA sequences. Therefore, chromosomes in human sperm nuclei adopt a looped conformation. This higher-order chromosome structure is most likely required for chromosome withdrawal/decondensation during the early fertilization events leading to zygote formation.  (+info)

Transformation of human cells by SV40 virus. (7/140)

Fibroblast cultures were prepared from skin biopsies from 29 patients and tested for their susceptibility to transformation by simian virus SV40. Cells with a normal chromosome complement showed a mean transformation frequency of 25/106 cells but for cells from a single patient with Fanconi's anaemia, the value was 152/106 cells. An increased susceptibility to transformation was observed for cells from 6 patients with Down's syndrome 3 patients with trisomy 18, a patient with trisomy 18 for 5% of cells and a patient with trisomy 13. No increased susceptibility to transformation was found for cells with a chromosome complement of XO, XXY, XX/XX + 8, XX + partial 15q or XX + 9p. The susceptiability to transformation was related to susceptibility to SV40 virus infection, as measured by the number of infected cells which contained SV40 virus induced T antigen. This latter test was technically easier to perform and could serve to detect persons of increased susceptiability to transformation, since this may indicate an increased risk of natural malignant disease.  (+info)

Cigarette smoking, familial hematopoietic cancer, hair dye use, and risk of t(14;18)-defined subtypes of non-Hodgkin's lymphoma. (8/140)

Some evidence suggests that smoking, a family history of hematopoietic cancer, and use of hair dyes are associated with t(14;18)-defined subsets of non-Hodgkin's lymphoma (NHL) in men. To further evaluate these associations and to expand them to women, the authors determined t(14;18)(q32;q21) status by fluorescence in situ hybridization in 172 of 175 tumor blocks from a population-based case-control study conducted in Nebraska during 1983-1986. Exposures in 65 t(14;18)-positive cases and 107 t(14;18)-negative cases were compared with those among 1,432 controls. Odds ratios and 95% confidence intervals were calculated using polytomous logistic regression. Among men, smoking was not associated with risk of t(14;18)-positive or -negative NHL. Among women who had ever smoked cigarettes, there was an association with risk of t(14;18)-negative NHL (odds ratio (OR) = 1.9, 95% confidence interval (CI): 1.1, 3.3) but not t(14;18)-positive NHL (p-difference = 0.01). The risks for t(14;18)-negative NHL among women increased with longer duration (>30 years: OR = 2.1, 95% CI: 1.1, 4.1) and early initiation (age +info)

The ophthalmic histopathology is detailed in a case of trisomy 18 (Edwardss syndrome). In addition to the ocular pathology already reported, previously unreported findings of iris stromal hypoplasia, abnormal lens shape, and decreased ganglion cells in the retina are noted. The ophthalmic histopathology associated with this syndrome and the relationship of several genetic disorders to their ocular manifestations are discussed. ...
We have some good news for you; we can tell you that your baby does not have Down syndrome, Edwardss syndrome, Turners or any other syndrome. The babys chromosomes are normal. I cannot explain the fluid on babys neck no cause identified. However, this is only 1/2 the test, the other test that will take another 2 weeks, this is a culture test, and the cases on these culture tests are so very rare I can almost tell you NO you done have any of these ...
First trimester screening offers early information about a babys risk of certain chromosomal conditions, such as Down syndrome and Edwardss syndrome. The screenings involve a blood test to measure levels of pregnancy-specific substances an ultrasound exam to measure the size of the clear space in the tissue at the back of the babys neck.. ...
Religion, Politics and World Events - Bad news for John Edwards/family - Just heard on FNC that yesterday, apart from everything else, John Edwardss
Since paper was expensive, he used and re-used every scrap that became available. Most interestingly, however, he made his own notebooks, not only to save expense but because it allowed for flexibility of size and arrangement. Edwardss method, as was common for the time, was stab sewing, in which a needle and thread would be drawn through the assembled pages at the margin, usually in three to five holes, depending on the size of the paper, and knotted at an end hole. Sometimes, perhaps because the sheets were not bound tightly enough or the first stitching had become loose, he added a new set of stitches through different holes. He ran the thread through the holes, connecting them, so that the thread paralleled the left edge of the paper, several millimeters from that edge.[3} he also made the covers of stiffer paper, sometimes adorned with pictures and wallpaper. His notebooks usually had around 98 pages, which he covered with writing on both sides ...
During John Edwardss presidential campaign, Americans everywhere (myself included!) were always talking about how sweet he was to his family and especially...
Explore Kerina Edwardss board Thermomix - Main meals on Pinterest. | See more ideas about Against all grain, Almond and Bellinis.
TV Edwardss solicitors deliver the legal support and guidance that individuals and families need, in the way in which they need it. Our...
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
A. W. F. Edwards is one of the most influential mathematical geneticists in the history of the discipline. One of the last students of R. A. Fisher, Edwards pioneered the statistical analysis of phylogeny in collaboration with L. L. Cavalli-Sforza, and helped establish Fishers concept of likelihood as a standard of statistical and scientific inference. In this book, edited by philosopher of science Rasmus Grønfeldt Winther, Edwardss key papers are assembled alongside commentaries by leading scientists, discussing Edwardss influence on their own research and on thinking in their field overall. In an extensive interview with Winther, Edwards offers his thoughts on his contributions, their legacy, and the context in which they emerged. This book is a resource both for anyone interested in the history and philosophy of genetics, statistics, and science, and for scientists seeking to develop new algorithmic and statistical methods for understanding the genetic relationships between and among ...
Although this species may have a restricted range, it is not believed to approach the thresholds for Vulnerable under the range size criterion (Extent of Occurrence ,20,000 km2 combined with a declining or fluctuating range size, habitat extent/quality, or population size and a small number of locations or severe fragmentation). The population trend appears to be stable, and hence the species does not approach the thresholds for Vulnerable under the population trend criterion (,30% decline over ten years or three generations). The population size has not been quantified, but it is not believed to approach the thresholds for Vulnerable under the population size criterion (,10,000 mature individuals with a continuing decline estimated to be ,10% in ten years or three generations, or with a specified population structure). For these reasons the species is evaluated as Least Concern ...
John Edwards is wagering a lot, maybe his whole political future, on that list of what-ifs. The 2004 vice presidential nominee, the guy with the dad in the mill who gave the most remembered stump speech of the Democratic primary campaign, will rejoin the debate with a new speech in New Hampshire on the first weekend in February. From the sounds of an interview at his Georgetown house earlier this week, Edwards intends to pick up where he left off in that two Americas discourse of his ...
The mere ability to classify people into races using their genes is unremarkable. Nigerians and Swedes can be discriminated almost perfectly using skin colour, so even the handful of genes coding for skin colour must be a sufficient tell-tale. It doesnt follow that Swedes and Nigerians are necessarily distant in DNA-space, where all DNA bases are taken into account. But Lewontins 15% is an Fst statistic-(an estimate of) genetic distance between populations, averaged across all gene loci-so it doesnt privilege genes coding for visible, racially distinctive features.. Edwardss point is that 15% between-population variation, averaged across all gene loci, makes populations distant from one another (at least on average) in gene-space. Although not as comprehensive as DNA-space, gene-space is an unbiased proxy.. We can also make Lewontins 15% more tangible. Henry Harpending proves in Kinship and Population Subdivision (2002) that Fst, the measure Lewtonin refers to, is approximately equal to ...
Treatments for Chromosome 4, partial trisomy distal 4q including drugs, prescription medications, alternative treatments, surgery, and lifestyle changes.
Extra resources for Dietary Fibre-A Component of Food: Nutritional Function in Health and Disease. Sample text. J Hum Nutr 30:303-313 ° The Dietary Fibre Hypothesis: A Historical Perspective 19 Stephen AM, Cummings JH (1980) Mechanism of action of dietary fibre in the human colon. Nature 284: 283-284 Thomas M (1964) Die Nahr und Ballastoffe der Getreidemehle in ihrer Bedeutung fUr die Brotnahrung. Wissenschaftliche Verlagsgesellschaft, Stuttgart Thornber JP, Northcote DH (1961) Changes in the chemical composition of a cambial cell during its differentiation into xylem and phloem tissues in trees. Major Components. 14 Dietary Fibre - A Component of Food Studies with Isolated Polysaccharides The researchers who contemplated experimental studies to establish the possible mechanisms whereby dietary fibre exerted its effects were faced with two major dilemmas. The first of these was the complexity of the plant cell walls in foods (Southgate, 1976) and the fact that the cell wall material was present ...
This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patients clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician ...
May 21, 2014 - Explore cherri edwardss board Shaped Bushes, followed by 326 people on Pinterest. Wait two or three months and then prune an additional 3 inches in the shape you desire. Review the height of the plants, and trim them down to half their current size. You can prune shrubs into the shape of animals, creatures … Topiary is the art of trimming, training and shaping trees, shrubs and plants into specific shapes that are elegant, artistic or whimsical. Small-leaved plants like boxwood hedges work well for designs. Pruning flowers is much different (and easier) than pruning bushes or trees. If you want a decorative bowls shape you can leave the stem on. With this video tutorial, youll learn how to force growth in a desired direction. Be it a Christmas tree shape, cone or round, its your decision to make. Cut out and wrap the second wing in the same manner as you wrapped the first. These whimsical animals add a touch of adventure and fun that is sure to bring a smile to all who ...
Edwardss Laforey collided with her sister Lydiard in November, 1914 and he was faulted for careless navigation.[6] Edwards was credited for his contributions in sinking two German torpedo boats in the Battle off Noordhinder Bank on 1 May, 1915. On 19 July, Laforey injured a propeller on a shoal at Plymouth and was told to be more careful.[7] He was scolded for the perfunctory manner in which order to land confidential docu[ments] in Medn in Autumn 1915 was carried out.[8] On 2 August, 1916, Edwards was thanked for his work in devising and fitting out fire control equipment in Laforey. In a very uncharacteristic endorsement, the Admiralty approved that such equipment should be fitted to the other destroyers in the Ninth Destroyer Flotilla.[9] Edwards was tried by the customary Court Martial upon the loss of Hoste and acquitted.[10] Edwards was promoted to the rank of Captain on 31 December, 1917. ...
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.
TY - JOUR. T1 - Acute myelomonocytic leukemia in a horse.. AU - Spier, S. J.. AU - Madewell, B. R.. AU - Zinkl, J. G.. AU - Ryan, A. M.. PY - 1986/4/15. Y1 - 1986/4/15. N2 - A 7-year-old Quarter Horse stallion with a myeloproliferative disorder was examined because of colic, and an enterolith was removed surgically. The horse experienced secondary complications after abdominal surgery, and leukopenia and thrombocytopenia were detected. Five months later, the horse was examined for recurrent peripheral edema and for repair of an abdominal incisional hernia. Acute myelomonocytic leukemia was diagnosed, and treatment with low-dose (noncytocidal) cytosine arabinoside was unsuccessful. Necropsy revealed neoplastic infiltrate in the spleen, liver, lung, adrenal gland, testes, and eye. The persistent hematologic abnormalities before the onset of overt leukemia may represent hematopoietic dysplasia or preleukemia.. AB - A 7-year-old Quarter Horse stallion with a myeloproliferative disorder was examined ...
Acute myelomonocytic leukemia (AMMoL) is a form of acute myeloid leukemia which involves a proliferation of CFU-GM myeloblasts and monoblasts. It is classified under M4 in the French-American-British classification (FAB).[1] It is classified under AML, not otherwise classified in the WHO classification.[2] Translocations have been observed.[3] Progression from myelodysplastic syndrome has been reported.[4] ...
TY - JOUR. T1 - Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error. T2 - Case report and review of the literature on partial trisomy 17qter. AU - Sarri, C.. AU - Gyftodimou, J.. AU - Avramopoulos, D.. AU - Grigoriadou, M.. AU - Pedersen, W.. AU - Pandelia, E.. AU - Pangalos, C.. AU - Abazis, D.. AU - Kitsos, G.. AU - Vassilopoulos, D.. AU - Brøndum-Nielsen, K.. AU - Petersen, M. B.. PY - 1997/5/2. Y1 - 1997/5/2. N2 - Partial trisomy 17q22-qter is a rare but well-recognized clinical entity. We present a case of partial trisomy for the long arm of chromosome 17, which was detected in a female infant with severe psychomotor and somatic retardation, Stargardt disease, short limbs, and numerous minor anomalies. Differential chromosomal staining demonstrated an excess of genetic material on the long arm of the late replicating X chromosome. FISH and DNA polymorphism analysis showed that the extra material belonged to ...
I have not referred to my friend Albert Edwardss views for a while. Given the rather difficult juncture at which the U.S. stock market finds itself, I thought it opportune to consult with the big guy over at Société Générale in London.. In short, Albert sees that the structural bear market in equities has not yet reached bottom. We have long said that the de-bubbling process would end only when equities become very cheap and revulsion in equities as an asset class hangs in the air like a fog, commented the famed strategist.. Equity investors are in for a rude shock. The global economy is sliding back into recession and they are still not even aware that these events will trigger another leg down in valuations, the third major bear market since the equity valuation bubble burst. We will return to the valuation nadir last seen in 1982, with the S&P bottoming around 450.. Albert is never short of drawing analogies: Investors continued optimism as the equity bloodbath of the last decade ...
Im a Certified Holistic Health Coach and Jazz Singer born and raised in Austin, Texas. My fascination with nutrition began in my Human Physiology and Cell Biology classes at St. Edwardss University in Austin. Understanding the process of disease, cancer and cellular dysfunction makes the importance of good nutrition abundantly clear. Without essential nutrients and regular activity, the body simply cannot perform the basic processes that keep us healthy, energetic and happy.. As I continued learning about nutrition and experiencing the benefits of my own improved diet, I realized the power of this life-changing information. It also became apparent that the profit interests of modern food producers far out-weighed anyones concern for peoples health. I dedicated myself to sharing the secrets of nutrition and natural health with the world- helping others to unleash their own immense healing power.. ...
In the late 1970s Moore moved to Hollywood, where he had a supporting role in the hit film Foul Play (1978) with Goldie Hawn and Chevy Chase. The following year saw his breakout role in Blake Edwardss 10, which became one of the biggest box-office hits of 1979 and gave him an unprecedented status as a romantic leading man. Moore followed up with the comedy film Wholly Moses!, which was not a major success. In 1981 Moore appeared in the title role of the comedy Arthur, an even bigger hit than 10. Co-starring Liza Minnelli and Sir John Gielgud, it was both commercially and critically successful, Moore receiving an Oscar nomination for Best Actor, whilst Gielgud won the Best Supporting Actor Oscar for his role as Arthurs stern but compassionate manservant. Moore lost to Henry Fonda (for On Golden Pond). He did, however, win a Golden Globe award for Best Actor in a Musical/Comedy. In the same year, on British television, Moore was the featured guest subject on An Audience With.... His subsequent ...
Two of my reviews have appeared this week, both of excellent books. First is The Arsenic Labyrinth, the third of Martin Edwardss Lake District mysteries. From my review: you dont need to have read the previous two books to enjoy this one. The main protagonists are again historian Daniel Kind who, with his media-darling girlfriend Miranda,…
Studio 13/16 by Mathieu Lehanneur at the Centre Pompidou. This area dedicated to adolescents and designed by Mathieu Lehanneur for the Centre Pompidou (Paris) opens on 11th September 2010. This initiative called Studio 13/16, inevitably risky for a museum when aimed at a volatile teenage population, finds a functional and formal solution based on the ergonomics of the desire I dreamed about a place which was conceived and built like a television, cinema or music studio. I wanted this place to offer teenagers the same potential for action and creation as the professional equivalent. A far cry from an attempt to reconstruct a hypothetical teen style, from adolescence I have only kept this desire - and at times this capacity - to contort things and places. I admire this unique way of making the world more flexible to better integrate into it. And what is true for a town or for clothing is even more so for institutions like museums... sums up Mathieu Lehanneur.. Following David Edwardss ...
KMT2A-AFDN (also referred to as MLL-AF6) results from the fusion of KMT2A and AFDN, which leads to nuclear localization of Raf6, activation of Ras signaling in culture (PMID: 24695851), and leukemogenesis in mouse models (PMID: 29062045). KMT2A-AFDN has been identified in acute myelomonocytic leukemia (PMID: 30132801) and pediatric acute myeloid leukemia (PMID: 29105243 ...
Diagnosis Code 757.2 information, including descriptions, synonyms, code edits, ICD-10 conversion and references to the diseases index.
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 clinical, cytogenetic and dermatoglyphic findings in a patient with a ring chromosome 21 are presented. This anomaly acts as a deletion of chromosomal material and results in specific congenital defects. A comparison ...
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)
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1Molecular Pathology and Cytogenetic Ward, Pathology Department, School of Medicine, Tehran University of Medical Sciences,Tehran, Iran; Molecular Pathology and Cytogenetic Ward, Pathology Department, School of Medicine, Shiraz University of Medical Sciences, Shiraz, ...
Breast cancer is the second most common malignant condition after cervical carcinoma in India. The first sign is usually a palpable lump in the breast, which is diagnosed further with other investigative procedures like mammography and final diagnosis is confirmed by histological techniques through biopsy of the specimen. The genetic basis of breast cancer has been studied excessively77. BRCA 1 has been excessively implicated in breast cancer. Dermatoglyphics is a scientific method of study of patterns in finger tips, palms and soles. This pattern is unique to every individual and permanently fixed, with no changes after a set formation. In various studies, the dermatoglyphic pattern variations in patients with genetic diseases like Downs syndrome, schizophrenia, and certain cancer types, like, breast cancer, ovarian cancer has been studied extensively. Therefore, this method of non- invasive technique can be used as a predictor in persons prone for certain diseases when there is significant ...
Dumb Science, Kerrys Religion We already knew Kerry had a plan for everything -- ending the war, not getting in the war in the first place, getting allies to join us in the war, saving Social Security, lowering taxes, vastly increasing spending, cutting the deficit in half. You know. Miracles. But who knew that Kerry and Edwards could cause the crippled to rise up and walk? I dont think that has ever been promised in a political campaign before. I was amused when Kerry said, during the second debate, I believe in science. That was a pretty clear contrast with George W. Bush, who believes in God. The real difference in their faiths is that George W. Bush has actually read the Bible and gone to church, so chances are he knows something about what Christians believe about God. Unfortunately, John Kerry has no idea what scientists believe about science. As Charles Krauthammer pointed out in a sharply reasoned essay (Anything to Get Elected), Edwardss recent statement, When John Kerry is ...
Eric Edwards is VP:Operations at Petroleum Place Inc/The. See Eric G Edwardss compensation, career history, education, & memberships.
From NCBI Gene:. The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. This gene encodes 90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, this gene was expressed in all leukemic cell lines tested. [provided by RefSeq, Jul 2008]. From UniProt: ...
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. ...
Jonathan Edwards and Transatlantic Print Culture tells the story of how Edwardss works were published in the eighteenth century. Indiviidual chapters discuss the contributions of the various people who were involved on both sides of the Atlantic and their motivations. In the process of this narrative, Jonathan Edwards and Transatlantic Print Culture explains what the printing, publishing, and editing of Jonathan Edwardss publications can tell us about religious print culture in the eighteenth century. More specifically, it clarifies how the way in which his books were put together shaped the understanding of him as an author, and how such details as the formats, costs, quality of paper, length, bindings, and the number of reprints and abridgments affected the reception of his works in America and Europe. The book situates Edwards and his works in the specifics of his time and place, with extensive background on colonial commerce and the contributions of geography to printing and publishing.
TY - JOUR. T1 - Phage 8-9 defines a cluster of site polymorphisms on chromosome 16q22-q24 [HGM9 no. D16S20]. AU - Maslen, C.. AU - Magenis, R. Ellen. AU - Sheehy, Robert. AU - Litt, M.. N1 - Funding Information: from a genomic library of a mouse x human somatic cell hybrid (CF-52) containing an 11q-16q translocation as the only human chromosome. A 17 kb partial Sau 3A fragment was cloned in the BamHI site of EMBL3. POLYMORPHISMS: Sac I identifies constant bands at 4.1, 2.3 and 1.3 kb and two 2-allele RFLPs with A1-10, A2=7.4 +2.6 kb and B1=2.9, B2=1.9+1.0 kb. Bgl II identifies a constant band of 8 kb and a 3-allale RFLP with C1,20, C2=14 and C3=8.5 +5.2 kb. Pvu II identifies 8 constant bands ,3.5 kb and a 2-allele RFLP with D1 - 6.5, D2=5.8+0.7 kb. FREQUENCIES: Studied at least 34 European Caucasians. A1=.43, A2=.57; B1=.26,B2=.74; C1 =.03, C2=.71, C3=.29; D1-.32, D2=.68. CHROMOSOMAL LOCALIZATION: 16q22-q24, by in situ hybridization. Localized approx. 7 cM distal to CTRB on CEPH linkage map of ...
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SOFT, trisomy 18, trisomy, trisomy18,, NIPT, edwards syndrome, edward syndrome, patau syndrome, amniocentisis, ultrasound, trisomy 18 pictures, trisomy 18 foundation, what is trisomy 18, trisomy 18 facts, chromosome tests, diagnosis,,, pregnancy after trisomy 18, trisomy 18 causes, risk factors, partial trisomy 18, trisomy 18 baby, trysomy 18, trisomi 18, pictures of trisomy 18, amnio fish, 18, trisomy 18 photos, level ii ultrasound, trisomies
Partial monosomy 22q symptoms, causes, diagnosis, and treatment information for Partial monosomy 22q (Chromosome 22q deletion syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and prognosis.
Partial monosomy of chromosome 13q is a monosomy that results from the loss of all or part of the long arm of chromosome 13 in human beings. It is a rare genetic disorder which results in severe congenital abnormalities which are frequently fatal at an early age. Up until 2003, more than 125 cases had been documented in medical literature.[1] ...
Published on 2/1/2010. Vaglio A, Milunsky A, Quadrelli A, Huang XL, Maher T, Mechoso B, Martínez S, Pagano S, Bellini S, Costabel M, Quadrelli R. Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication. Genet Test Mol Biomarkers. 2010 Feb; 14(1):57-65. PMID: 20143912.. Read at: PubMed ...
If you have a family member with Distal Trisomy 10q, we invite you to share in our community. Reasons to join are: To share your childs stories
When Tessa was born nine months ago, we set out on a humbling journey with no clear implication of what was to come in the days and even years ahead. We were lost in new territory, but not because there was no direction; we were lost because of all of the unfamiliar roads before us…
ThinkGenetic strives to create, update and review content regularly to ensure the information we provide is accurate, referenced and available 24/7 to our audience. If you wish to see your… CONTINUE ...
Informatieve website voor (aanstaande) ouders van een dochter met het triple-x-syndroom en voor meisjes en vrouwen die het syndroom zelf hebben en andere belangstellenden, samengesteld door ouders
But perhaps not quite as you might imagine. According to the World Of Darkness presentation at the Eve Fanfest - some of which you can see here, via VG247 - the
A dog breeding licence is required if five or more litters of puppies are bred each year or if premises are solely used for the purpose of breeding dogs.
B-cell lymphoma 3-encoded protein is a protein that in humans is encoded by the BCL3 gene. This gene is a proto-oncogene ... Genes Chromosomes Cancer. 8 (1): 60-2. doi:10.1002/gcc.2870080110. PMID 7691160. S2CID 85217954. McKeithan TW, Ohno H, ... FactorBook BCL3 Human BCL3 genome location and BCL3 gene details page in the UCSC Genome Browser.. ... Mills FC, Brooker JS, Camerini-Otero RD (1991). "Sequences of human immunoglobulin switch regions: implications for ...
For human beings, the normal number of chromosomes is 46, of which 23 are inherited from each parent. Two chromosomes, the X ... 8 August 2009). "Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood". Human ... Since Y-chromosomes are passed from father to son, all Kohanim men should theoretically have nearly identical Y chromosomes; ... Men have an X chromosome inherited from their mother, and a Y chromosome inherited from their father. Males who share a common ...
2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157-64. doi:10.1038/nature01782. PMID 12853948. ... EPH receptor A1 (ephrin type-A receptor 1) is a protein that in humans is encoded by the EPHA1 gene. This gene belongs to the ... This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. ENSG00000284816 GRCh38: ... 2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". ...
In humans, two paralogs of the yeast protein have been identified. They share a high degree of amino acid sequence similarity ... The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. VPS4A has ... Vacuolar protein sorting-associated protein 4A is a protein that in humans is encoded by the VPS4A gene. The protein encoded by ... Tsang HT, Connell JW, Brown SE, Thompson A, Reid E, Sanderson CM (2006). "A systematic analysis of human CHMP protein ...
... later also found in human telomeres. Introduction of PFG electrophoresis for the separation of chromosome-sized DNA molecules ... Reid G, Wielinga P, Zelcer N, Van der Heijden I, Kuil A, De Haas M, Wijnholds J, Borst P. The human multidrug resistance ... Bernards A, Michels PA, Lincke CR, Borst P. Growth of chromosome ends in multiplying trypanosomes. Nature. 1983;303:592-7. Van ... Van der Ploeg LH, Cornelissen AW, Barry JD, Borst P. Chromosomes of kinetoplastida. EMBO J. 1984;3:3109-15. Heymans HS, ...
2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157-64. doi:10.1038/nature01782. PMID 12853948. Ota T, ... Uncharacterized methyltransferase WBSCR22 is an enzyme that in humans is encoded by the WBSCR22 gene. This gene encodes a ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... "Entrez Gene: WBSCR22 Williams Beuren syndrome chromosome region 22". Stanchi F, Bertocco E, Toppo S, et al. (2001). " ...
"Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood". Human Genetics. 126 (5): 707- ... "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-48. doi:10.1007/s00439-003-1031-4. PMID ... "Contrasting patterns of Y chromosome variation in Ashkenazi Jewish and host non-Jewish European populations". Human Genetics. ... Y chromosome haplogroup G1 is also found among Jewish populations, but it is likely that some of these samples will turn out to ...
Jobling; Tyler-Smith (2003). "The human y chromosome: An evolutionary marker comes of age" (PDF). Nature Reviews. Genetics. 4 ( ... Chiaroni, J.; Underhill, P.A.; Cavalli-Sforza, L.L. (2009). "Y chromosome diversity, human expansion, drift and cultural ... "Y Chromosome Evidence for Anglo-Saxon Mass Migration". "A Y Chromosome Census of the British Isles" (PDF). Leslie, S., Winney, ... "A major Y-chromosome haplogroup R1b Holocene effect in Central and Western Europe". European Journal of Human Genetics. 19 (1 ...
Moore, Laoise T.; McEvoy, B; Cape, E; Simms, K; Bradley, DG (February 2006). "A Y-Chromosome Signature of Hegemony in Gaelic ... Ireland". The American Journal of Human Genetics. 78 (2): 334-338. doi:10.1086/500055. PMC 1380239. PMID 16358217. Wade, ... about one in fifty New Yorkers of European origin carry a distinctive genetic signature on their Y chromosomes inherited from ... Retrieved July 16, 2006. New York City Department of City Planning (2000). "2000 Census" (PDF). Archived from the original (PDF ...
IL9R+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ... This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this ... IL9R also denotes its human gene. The protein encoded by this gene is a cytokine receptor that specifically mediates the ... Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants encoding ...
In humans, two paralogs of the yeast protein have been identified. They share a high degree of amino acid sequence similarity ... The gene encoding this paralog has been mapped to chromosome 18; the gene for the other (VPS4A) resides on chromosome 16. ... Vacuolar protein sorting-associated protein 4B is a protein that in humans is encoded by the VPS4B gene. The protein encoded by ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
Human Y-chromosome DNA haplogroups Neanderthal Y-chromosome DNA haplogroups Y-chromosome haplogroups in populations of the ... "Human Y-Chromosome Variation in the Western Mediterranean Area: Implications for the Peopling of the Region" (PDF). Human ... Y Chromosome Consortium "YCC" (2002). "A Nomenclature System for the Tree of Human Y-Chromosomal Binary Haplogroups". Genome ... Haplogroup R1a, or haplogroup R-M420, is a human Y-chromosome DNA haplogroup which is distributed in a large region in Eurasia ...
Humans have one pair fewer chromosomes than other apes, with ape chromosomes 2 and 4 fused in the human genome into a large ... The novel and serial concern, not a chimpanzee-human hybrid, but a genetic gorilla-human hybrid, who appears human. Next (2006 ... "human" and "chimp") lineages as late as six million years ago. The similarity of the X chromosome in humans and chimpanzees ... These include natural selection on the X chromosome in the common ancestor of humans and chimpanzees, changes in the ratio of ...
"Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes". Journal of Human Genetics (November ... Event occurs at 0-3:29 / 55:16. "The Roots of Japan Were Ancient Israel!?" (in Japanese). Japan: iSkySoft. August 21, 2011. ... 18, 2005). doi:10.1007/s10038-005-0322-0. Accessed February 22, 2018 "Communities , The Jewish Community of China". www. ...
2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ... Protein phosphatase 1 regulatory subunit 12B is an enzyme that in humans is encoded by the PPP1R12B gene. Myosin light chain ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 1998). "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain". DNA Res. 4 (5): 345-9. doi: ...
2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ... Beta-1,4-galactosyltransferase 3 is an enzyme that in humans is encoded by the B4GALT3 gene. This gene is one of seven beta-1,4 ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 1990). "Characterization of the secreted, native gp120 and gp160 of the human immunodeficiency virus type 1". AIDS Res. Hum. ...
Reich, David (2018), Who We Are and How We Got Here: Ancient DNA and the New Science of the Human Past, Knopf Doubleday ... 2010). "Separating the post-Glacial coancestry of European and Asian y chromosomes within haplogroup R1a". European Journal of ... September 2019). "The formation of human populations in South and Central Asia". Science. 365 (6457): eaat7487. doi:10.1126/ ... Anthony, David (2021), Daniels, Megan (ed.), "Homo Migrans: Modeling Mobility and Migration in HUman HIstory", Migration, ...
The gene is found on chromosome 17 on the cytogenetic band 17p11.2. This gene has two paralog in the human genome, LOC201158, ... which is located on chromosome 17 at 17p12, and TVP23A, which is located on chromosome 16. The duplication appears to have ... It is located on Chromosome 17 at 18,684,582-18,710,026, and the most common mRNA has 7 exons. This gene encode a protein of ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...
Arveiler B, Petkovich M, Mandel JL, Chambon P (July 1988). "A PstI RFLP for the human retinoic acid receptor in 17q21". Nucleic ... "High-density genetic map of the BRCA1 region of chromosome 17q12-q21". Genomics. 17 (3): 618-23. doi:10.1006/geno.1993.1381. ... Petkovich M, Brand NJ, Krust A, Chambon P (1988). "A human retinoic acid receptor which belongs to the family of nuclear ... November 2002). "Human papilloma virus 16 E6 oncoprotein inhibits retinoic X receptor-mediated transactivation by targeting ...
"C3orf56 chromosome 3 open reading frame 56 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2020-12-16. " ... C3orf56 chromosome 3 open reading frame 56 [Homo sapiens (human)] - Gene - NCBI. (2020, August 22). Retrieved September 30, ... C3orf56 is a protein encoding gene found on chromosome 3. Although, the structure and function of the protein is not well ... Relative to the expression of all other genes, C3orf56 has shown an almost absence of expression in human tissues (excluding ...
1988). "RFLP and mapping of human MOX-1 gene on chromosome 3". Nucleic Acids Res. 16 (18): 9067. doi:10.1093/nar/16.18.9067. ... 2005). "Down-regulation of basophil function by human CD200 and human herpesvirus-8 CD200". J. Immunol. 175 (7): 4441-9. doi: ... "P41217 (OX2G_HUMAN)". Uniprot. Retrieved 16 May 2013. "Entrez Gene: CD200 CD200 molecule". Gorczynski RM (2002). "Evidence for ... OX-2 membrane glycoprotein, also named CD200 (Cluster of Differentiation 200) is a human protein encoded by the CD200 gene. The ...
"The potassium channel gene HK1 maps to human chromosome 11p14.1, close to the FSHB gene". Human Genetics. 90 (3): 319-21. doi: ... The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1 in humans. ... Potassium voltage-gated channel subfamily A member 4 also known as Kv1.4 is a protein that in humans is encoded by the KCNA4 ... Kv1.4+Potassium+Channel at the US National Library of Medicine Medical Subject Headings (MeSH) KCNA4+protein,+human at the US ...
"Assignment of the gene for human DNA polymerase alpha to the X chromosome". Proc. Natl. Acad. Sci. U.S.A. 82 (16): 5270-4. ... Coverley D, Kenny MK, Lane DP, Wood RD (1992). "A role for the human single-stranded DNA binding protein HSSB/RPA in an early ... Wong SW, Wahl AF, Yuan PM, Arai N, Pearson BE, Arai K, Korn D, Hunkapiller MW, Wang TS (1988). "Human DNA polymerase alpha gene ... DNA polymerase alpha catalytic subunit is an enzyme that in humans is encoded by the POLA1 gene. This gene encodes the p180 ...
Humans have 23 pairs of chromosomes and other great apes have 24 pairs of chromosomes. In the human evolutionary lineage, two ... Human and chimpanzee chromosomes are very similar. The primary difference is that humans have one fewer pair of chromosomes ... Human evolutionary genetics Human chromosome 2 Human Genome Project Suntsova, M.V.; Buzdin, A.A. (2020-09-10). "Differences ... producing human chromosome 2. There are nine other major chromosomal differences between chimpanzees and humans: chromosome ...
"Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes". Genomics. 13 ( ... ZBTB17+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) Overview of all the structural ... Zinc finger and BTB domain-containing protein 17 is a protein that in humans is encoded by the ZBTB17 gene. ZBTB17 has been ... Bray P, Lichter P, Thiesen HJ, Ward DC, Dawid IB (Nov 1991). "Characterization and mapping of human genes encoding zinc finger ...
... to human chromosome 5q34 by use of radiation hybrid mapping and fluorescence in situ hybridization". Cytogenet. Cell Genet. 90 ... Hu MC, Wang YP, Qiu WR (1999). "Human fibroblast growth factor-18 stimulates fibroblast cell proliferation and is mapped to ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and ...
2017). "Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citizen science collaboration". BMC Evol Biol ... 2000), "Y chromosome sequence variation and the history of human populations." Nature Genetics, Volume 26, November 2000. Yali ... 2003). "Y-Chromosome Evidence for Differing Ancient Demographic Histories in the Americas". The American Journal of Human ... 2004). "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-48. doi:10.1007/s00439-003-1031-4. ...
"The structural organization of the human aldehyde reductase gene, AKR1A1, and mapping to chromosome 1p33-->p32". Cytogenetics ... AKR1A1 human gene location in the UCSC Genome Browser. AKR1A1 human gene details in the UCSC Genome Browser. Biology portal. ... El-Kabbani O, Green NC, Lin G, Carson M, Narayana SV, Moore KM, Flynn TG, DeLucas LJ (November 1994). "Structures of human and ... El-Kabbani O, Green NC, Lin G, Carson M, Narayana SV, Moore KM, Flynn TG, DeLucas LJ (November 1994). "Structures of human and ...
Xie Y, Zhu L, Zhao G (Jun 2000). "Assignment of type I phosphatidylinositol-4-phosphate 5-kinase (PIP5K1A) to human chromosome ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ... Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha is an enzyme that in humans is encoded by the PIP5K1A gene. GRCh38: ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
Young M, Chen H, Lalioti MD, Antonarakis SE (May 1996). "The human lanosterol synthase gene maps to chromosome 21q22.3". Human ... "The human lanosterol synthase gene maps to chromosome 21q22.3". Human Genetics. 97 (5): 620-624. doi:10.1007/BF02281872. PMID ... "Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)". Human Genetics. ... "Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution". Science. 308 (5725): 1149-54. Bibcode:2005Sci... ...
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 ... The plan, which was accompanied by a series of propaganda articles by the Iraqi regime directed against the Ma'dan,[18] ... 16] According to this study, Marsh Arabs have the following haplogroups. ...
The institute is also the first develop a test to detect chromosome translocations in human embryos to increase the success ... Human cloning is a long way off, but bioengineered kids are already here, Washington Monthly, March 2002 - accessed July 11, ... On February 18, 1867, The Hospital of Saint Barnabas became the first incorporated hospital in New Jersey by the act of New ... issues in this field including a possibility that a child may have genes from more than two adults and the usage of human ...
For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... As a significant human pathogenic bacterium S. pneumoniae was recognized as a major cause of pneumonia in the late 19th century ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ... "A fatal form of septicaemia in the rabbit produced by the subcutaneous injection of human saliva. An experimental research". ...
MN1 is a gene found on human chromosome 22, with gene map locus 22q12.3-qter.[5] Its official full name is meningioma ( ... 2008). "Toward a confocal subcellular atlas of the human proteome". Mol. Cell. Proteomics. 7 (3): 499-508. doi:10.1074/mcp. ... a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma". Oncogene. 10 (8): 1521-8. PMID ... "MN1, a novel player in human AML". Blood Cells Mol. Dis. 39 (3): 336-9. doi:10.1016/j.bcmd.2007.06.009. PMC 2387274. PMID ...
O'Donovan (1999). „Physical mapping of the CXC chemokine locus on human chromosome 4.". Cytogenet. Cell Genet. 84: 39-42. PMID ... Angiolillo (1995). „Human interferon-inducible protein 10 is a potent inhibitor of angiogenesis in vivo". J. Exp. Med. 182: 155 ...
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] ... p. 18. ISBN 978-3-540-68696-5. .. *^ a b c d Clegg MT, Gaut BS ... The new cpDNA structures separate, creating daughter cpDNA chromosomes. In addition to the early microscopy experiments, this ... 16 (3): 231-41. doi:10.1023/A:1007564209282.. *^ Krause K (September 2008). "From chloroplasts to "cryptic" plastids: evolution ...
They argue that this is an issue with respect to the human right to water and sanitation and also from the perspective of the ... chromosomes and anatomy' at birth.[32] ... "Public Hygiene Lets Us Stay Human (PHLUSH). Retrieved June 22, ... The Human Rights Campaign, an LGBTQ advocacy group, recommends that employers grant access, and use, to public toilets ... Human Rights Campaign. "Restroom Access for Transgender Employees." Retrieved from "Restroom Access for Transgender Employees" ...
One research team found a correlation in male fruit flies and discussed it as a possibility in other species, even humans.[35] ... chromosome localization, and functional expression of cDNA clones". Biochemistry. 30 (44): 10640-6. doi:10.1021/bi00108a006. ... Palma C, Maggi CA (2000). "The role of tachykinins via NK1 receptors in progression of human gliomas". Life Sciences. 67 (9): ... Gerard NP, Garraway LA, Eddy RL, Shows TB, Iijima H, Paquet JL, Gerard C (Nov 1991). "Human substance P receptor (NK-1): ...
This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it. *v ... Apolipoprotein C-IV, also known as apolipoprotein C4, is a protein that in humans is encoded by the APOC4 gene.[5][6] ... Human APOC4 genome location and APOC4 gene details page in the UCSC Genome Browser. ... 2002). "Regulated expression of the apolipoprotein E/C-I/C-IV/C-II gene cluster in murine and human macrophages. A critical ...
When a human is conceived, it gets 23 chromosomes from its mother and 23 from its father. If it does not get the right number ... For example, Down syndrome happens when there are three copies of chromosome #21. (Usually people have 2 of every chromosome.) ... This developing human is called an embryo for the first eight weeks of the pregnancy, and fetus for the rest of the pregnancy. ... Humans can also chose to end the pregnancy before birth takes place. This is called an induced abortion. Often, the term ...
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 ... Genome complexity has generally increased since the beginning of the life on Earth.[17][18] Some computer models have suggested ... 16] Consequently, in this view, microscopic life dominates Earth, and large organisms only appear more diverse due to sampling ...
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 ...
Because RPS6KA3 is located on the X chromosome, males (who possess only one copy of the X chromosome) display more severe ... "Coffin-Lowry syndrome". European Journal of Human Genetics 18, 627-633 (2010). doi:10.1038/ejhg.2009.189 ... The syndrome is caused by mutations in the RPS6KA3 gene.[1] This gene is located on the short arm of the X chromosome (Xp22.2 ... A condition is considered X-linked if the gene that causes the disorder is located on the X chromosome (one of the two sex ...
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, ...
"American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
Deletion in the 22q11.2 region of chromosome 22 has been associated with schizophrenia and autism.[22][23] Schizophrenia and ... An example of pleiotropy is phenylketonuria, an inherited disorder that affects the level of phenylalanine in the human body. ... The disease is caused by a defect in a single gene on chromosome 12 that codes for enzyme phenylalanine hydroxylase , that ... Pleiotropy not only affects humans, but also animals, such as chickens and laboratory house mice, where the mice have the "mini ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ... Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or ...
"The 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). ...
Voehringer, D.; M. Koschella; H. Pircher (2002). "Lack of proliferative capacity of human effector and memory T cells ... of oxidative damage to DNA by aging and cellular metabolic activity and the shortening of telomeric terminals of chromosomes. ... doi:10.1016/S0531-5565(99)00068-6. Franceschi, C.; M. Bonafè; S. Valensin (2000). "Human immunosenescence: the prevailing of ... "Age-related impairment of p56lck and ZAP-70 activities in human T lymphocytes activated through the TcR/CD3 complex". Exp ...
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 ...
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 ...
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 ... critical quantitative evaluation of the pharmacokinetic data in humans after consumption of single doses of beverages". Mol ...
These were foxes that were eager to have human contact. By the 10th generation 18 percent of fox pups were in this "elite" ... even though the fox genome has 16 pairs of metacentric autosomes and the dog has 37 pairs of acrocentric autosomes.[10] ... Using 320 microsatellites Trut and co-workers showed that all 16 fox autosomes and one X chromosome were covered, and that ...
kromosom hos mennesket (da) Chromosome 17, Chromosome 17 (human) (tl); chr17, Homo sapiens chromosome 17 (en); chr17, kromosom ... Media in category "Human chromosome 17". The following 36 files are in this category, out of 36 total. ... Human chromosome 17 with ASD genes from IJMS-16-06464.png 645 × 1,068; 335 KB. ... Human chromosome 17 from Gene Gateway - with label.png 1,376 × 1,731; 309 KB. ...
Three region-specific libraries for the entire human chromosome 18 were constructed using microdissection and MboI linker- ... Human Chromosome Blot Hybridization Insert Size Density Marker Southern Blot Hybridization This is a preview of subscription ... Three region-specific libraries for the entire human chromosome 18 were constructed using microdissection and MboI linker- ... Construction and characterization of three region-specific microdissection libraries for human chromosome 18. ...
Human chromosome Y. Human chromosome Y: entries, gene names and cross-references to MIM ... sp,P0DJD3,RBY1A_HUMAN RNA-binding motif protein, Y chromosome, family 1 member A1 OS=Homo sapiens OX=9606 GN=RBMY1A1 PE=1 SV=1 ... "Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm.". Elliott D ... "Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm.". Elliott D ...
doi: 10.1186/1471-2148-13-216 PMCID: PMC3850526 PMID: 24079706 Y Chromosome analysis of prehistoric human populations in the ... Y chromosome STR and SNP analysis. Eighteen biallelic markers (Figure 2) that characterize the most prevalent lineages in ... To help understand the human evolutionary history of this region, we performed Y chromosome analyses on ancient human remains ... Y Chromosome analysis of prehistoric human populations in the West Liao River Valley, Northeast China. 중국 동북부 랴오강 계곡의 선사 시대 인구에 ...
Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 17.. The following is a partial list of genes on human chromosome 17. For complete ... "Chromosome 17". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 17". Human Genome Project Information Archive ... Gilbert F (1998). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 17". Genet Test. 2 (4): 357-81. ...
Human Chromosomes - 14.1 Assessment - Page 397 1c including work step by step written by community members like you. Textbook ... Human Chromosomes - 14.1 Assessment - Page 397: 2a Previous Answer Chapter 14, Human Heredity - 14.1 - Human Chromosomes - 14.1 ... Chapter 14, Human Heredity - 14.1 - Human Chromosomes - 14.1 Assessment - Page 397: 1c. Answer. Karyotype ... Assessment - 14.1 Human Chromosomes - Understand Key Concepts/Think Critically * Assessment - 14.2 Human Genetic Disorders - ...
14.1 Human Chromosomes - Understand Key Concepts/Think Critically - Page 412 6 including work step by step written by community ... Chapter 14, Human Heredity - Assessment - 14.1 Human Chromosomes - Understand Key Concepts/Think Critically - Page 412. 6 ... Chapter 14, Human Heredity - Assessment - 14.1 Human Chromosomes - Understand Key Concepts/Think Critically - Page 412: 6. ... Forensics Lab - Pre-Lab - Using DNA to Identify Human Remains * Assessment - 14.1 Human Chromosomes - Understand Key Concepts/ ...
Similar additional chromosome abnormalities were observed in the terminal stage of the disease in 5 of 9 patients with ... The study of chromosome banding pattern of leukaemic cells in 15 patients with CML revealed t(9;22) in all cases. ... Chromosomes, Human, 19-20. Chromosomes, Human, 21-22 and Y. Chromosomes, Human, 6-12 and X. Female. Humans. Leukemia, Myeloid ... The study of chromosome banding pattern of leukaemic cells in 15 patients with CML revealed t(9;22) in all cases. Similar ...
International Society of Genetic Genealogy (ISOGG) Human Y-chromosome DNA haplogroup "What happened to the Y Chromosome ... The Y Chromosome Consortium (YCC) was a collection of scientists who worked toward the understanding of human Y chromosomal ... Y Chromosome Consortium (February 2002). "A nomenclature system for the tree of human Y-chromosomal binary haplogroups". Genome ... "The Y Chromosome Consortium". Bio Sciences. University of Arizona. Archived from the original on 2017-01-16. Karafet TM, Mendez ...
The results of the present study suggested that loss of chromosome 13 and the amplification of chromosome 20 might be early ... consistent loss of chromosome 13 and amplification of chromosome 20.. Jin Y1, Zhang H, Tsao SW, Jin C, Lv M, Strömbeck B, ... FISH and combined binary ratio labeling (COBRA)-FISH showed in two cases that the hsrs were derived from chromosome 20. Clonal ... The genetic profiles of five human ovarian surface epithelial (HOSE) cell lines immortalized by retroviral transfection of the ...
Non-human DNA. Chapter 17. New Technologies and Automation. Chapter 18. Legal Aspects of DNA Testing and the Scientific Expert ... X-Chromosome Analysis. Chapter 16. ... Y-Chromosome DNA Testing. Chapter 14. Mitochondrial DNA ... Methodology contains 18 chapters with 4 appendices providing up-to-date coverage of essential topics in this important field ...
Be the first to comment on "human-chromosomes". Leave a comment Cancel reply. Email address is optional. If provided, your ... Researchers Use Human Stem Cells to Create Model of the Human Kidney Glomerulus ... MIT Biological Engineers Program Human Cells to Store Complex Histories in Their DNA ... Voyager May Become the First Human-Made Object to Enter Interstellar Space ...
Evidence of prehistoric demographic expansions has been detected in the mitochondrial diversity of most human populations and ... MW 1999Population growth of human Y chromosomes: A study of Y chromosome microsatellites.Mol Biol Evol1617911798PubMedGoogle ... 2000Y chromosome sequence variation and the history of human populations.Nat Genet26358361CrossRefPubMedGoogle Scholar ... The human Y chromosome, disease and selection.Trends Genet16356362CrossRefPubMedGoogle Scholar ...
Buy the Paperback Book Trends In Chromosome Research by Tikaram Sharma at, Canadas largest bookstore. + Get Free ... 13 Chromosome Alterations and Oncogenes in Human Neoplasia.- 14 Chromosome Alterations in Speciation and Neoplastic ... 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 ...
... which has been identified in the human genome, maps to human chromosome 17 at q21 (ref. 40), and seems to encode a polypeptide ... A novel v-erb-B-related gene, c-erb-B-2, which has been identified in the human genome, maps to human chromosome 17 at q21 (ref ... Similarity of protein encoded by the human c-erb-B-2 gene to epidermal growth factor receptor Nature. 1986 Jan 16-22;319(6050): ...
... to mouse Chromosome 16 and human Chromosome 8, Mammalian Genome" on DeepDyve, the largest online rental service for scholarly ... Localization of a neural crest transcription factor, Slug, to mouse Chromosome 16 and human Chromosome 8. Rhim, Hyangshuk; ... Localization of a neural crest transcription factor, Slug, to mouse Chromosome 16 and human Chromosome 8. Localization of a ... 872 Mammalian Genome 8, Brief Data Reports Chromosome 16 Localization of a neural crest transcription factor, Slug, to mouse ...
Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 ... See also: Category:Genes on human chromosome 3.. The following is a partial list of genes on human chromosome 3. For complete ... "Chromosome 3". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 3". Human Genome Project Information Archive 1990 ... G-bands of human chromosome 3 in resolution 850 bphs[4] Chr. Arm[17] Band[18] ISCN. start[19] ISCN. stop[19] Basepair. start ...
On the human Y chromosome as well as other primate Y chromosomes, the pericentromeric and subtelomeric regions are the most ... The human Y chromosome contains the greatest proportion of duplicated sequence within the human genome at 50.4%. The majority ... The chimpanzee Y chromosome completely spans the orthologous part of the human region, and the human region is completely ... There exist three copies of this human region on the chimpanzee Y chromosome with two surrounding the Y chromosome centromere ...
Sad1 Spatiotemporally Regulates Kinetochore Clustering To Ensure High-Fidelity Chromosome Segregation in the Human Fungal ... Sad1 spatiotemporally regulates kinetochore clustering to ensure high-fidelity chromosome segregation in the human fungal ... Sad1 Spatiotemporally Regulates Kinetochore Clustering To Ensure High-Fidelity Chromosome Segregation in the Human Fungal ... Sad1 Spatiotemporally Regulates Kinetochore Clustering To Ensure High-Fidelity Chromosome Segregation in the Human Fungal ...
... Human Genome. CHROMOSOME. GENE. LOCATION. COMMENT. 1 (11700). Rh blood type. Rh+, Rh ... Karyotypes and Inheritance of Chromosomes. Human Genome. CHROMOSOME. GENE. LOCATION. COMMENT. 13 **. (see 14, 16, 18). Tallness ... The haploid human genome contains 23 chromosomes, containing a total of about 50,000 to 100,000 genes. Each chromosome has a ... The largest chromosomes are placed first and sequentially become smaller, except for the X and Y chromosomes. Chromosomes which ...
2004). Human chromokinesin KIF4A functions in chromosome condensation and segregation. J. Cell Biol. 166, 613-620. doi:10.1083/ ... 2007). The human kinesin Kif18A is a motile microtubule depolymerase essential for chromosome congression. Curr. Biol. 17, 488- ... 2012). Human chromokinesins promote chromosome congression and spindle microtubule dynamics during mitosis. J. Cell Biol. 198, ... A working model of chromosome congression. After nuclear envelope breakdown, chromosomes can be positioned throughout the ...
Chromosomes, Human, 6-12 and X Fathers Humans Infant, Newborn Karyotyping Male Pedigree Translocation, Genetic Trisomy ... Partial trisomy 9q resulting from a familial translocation t(9;16)(q32;q24). H C Soltan, J H Jung, Z Pyatt, R P Singh ... Partial Trisomy- 9q was observed in an infant with a multiple malformation syndrome who survived to 18 months. Cytogenetic ... Partial trisomy 9q resulting from a familial translocation t(9;16)(q32;q24). Clinical genetics. 1984 May;25(5):449-54 ...
Douglas J., Albertson D.G., Barclay A.N. et al. RFLP and mapping of human MOX-1 gene on chromosome 3 (англ.) // Nucleic Acids ... Shiratori I., Yamaguchi M., Suzukawa M. et al. Down-regulation of basophil function by human CD200 and human herpesvirus-8 ... Strausberg R.L., Feingold E.A., Grouse L.H. et al. Generation and initial analysis of more than 15,000 full-length human and ... McCaughan G.W., Clark M.J., Barclay A.N. Characterization of the human homolog of the rat MRC OX-2 membrane glycoprotein (англ ...
Chromosome 1 is one of the 23 pairs of chromosomes in humans. ... Chromosome 10 is one of the 23 pairs of chromosomes in humans ... , 1999 Release: First Human Chromosome Sequenced (1094 words). Chromosome 22 is the first of 23 human chromosome ... Encyclopedia , Chromosome 22 (human). Chromosome 22 is one of the 23 pairs of chromosomes in humans. People normally have two ... Chromosome 11 is one of the 23 pairs of chromosomes in humans. ... Chromosome 12 is one of the 23 pairs of chromosomes in ...
By combining radial information with chromosome contact frequencies measured by Hi-C, we substantially improved the accuracy of ... Using GPSeq, we mapped the radial organization of the human genome at 100-kb resolution, which revealed radial patterns of ... The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells. Hum. Mol. Genet. 10, 211-219 ... Sun, H. B., Shen, J. & Yokota, H. Size-dependent positioning of human chromosomes in interphase nuclei. Biophys. J. 79, 184-190 ...
Categories: Chromosomes, Human, 16-18 Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
Gedde-Dahl, T. et al. 8th Human Gene Mapping Workshop, Helsinki (1985); Cytogenet. Cell Genet. (in the press). , PubMed ,. ... We report here that the genetic locus DOCRI-917 defined by the cloned DNA probe is located on chromosome 7. ... Schumm, J. W. et al. 8th Human Gene Mapping Workshop, Helsinki (1985); Cytogenet. Cell Genet. (in the press).. ... Department of Human Genetics, Collaborative Research, Inc., 128 Spring St., Lexington, Massachusetts 02173, USA. †Unité de ...
APC/CTNNB1 (beta-catenin) pathway alterations in human prostate cancers. Genes Chromosomes Cancer 2002;34:9-16. ... The genomic landscapes of human breast and colorectal cancers. Science 2007;318:1108-13. ... The observed marginal P values (−log10 scale) are plotted across the chromosomes. ... Wild-type 161H IL-17F has also shown a strong antiangiogenetic effect by markedly inhibiting the angiogenesis of human ...
11 Stem Cells, Cancer, and Human Health. Unit 3: Genetics. 12 Patterns of Inheritance. 13 Chromosomes and Human Genetics. 14 ... Harnessing the Human Genome. Humans and Evolution. Smoking-Beyond Lung Cancer. Feeding a Hungry Planet. Building a Sustainable ... 18 Evolution of Populations. 19 Species and the Origins of Biological Diversity. 20 The Evolutionary History of Life Unit 5: ... 16 DNA Technology. Unit 4: Evolution. 17 How Evolution Works ...
A QTL on chromosome 3q23 influences processing speed in humans.. Knowles EEM, Mathias SR, Mollon J, Rodrigue A, Koenis MMG, ... Epigenetic Age Acceleration Assessed with Human White-Matter Images.. Hodgson K, Carless MA, Kulkarni H, Curran JE, Sprooten E ... Social Class and the Motivational Relevance of Other Human Beings: Evidence From Visual Attention. ... Evidence for genetic correlation between human cerebral white matter microstructure and inflammation. ...
  • Such applications have been demonstrated in a series of similarly constructed microdissection libraries from other regions of the human genome. (
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (
  • Bertranpetit, J 2000 Genome, diversity, and origins: The Y chromosome as a storyteller. (
  • Because of this, scientists share the sentiment that accurate human genome assembly is difficult due to these segmental duplications. (
  • The human genome contains around 130 regions, totaling 274Mb and ten percent of the total genome, that are flanked by these intrachromosomal duplications. (
  • Hypotheses have been made suggesting that many CNPs are only prevalent within the human genome because of the absence or presence of the evolutionarily recent segmental duplication events that have not quite become fixed within the human population. (
  • This shows that segmental duplications are responsible for defining locations of chromosomal rearrangement within the human genome. (
  • Twenty-nine of the forty-three pericentromeric regions have some form of segmental duplication totaling 47.6Mb, which is almost a third of all segmental duplications found in the human genome. (
  • A novel v-erb-B-related gene, c-erb-B-2, which has been identified in the human genome, maps to human chromosome 17 at q21 (ref. 40), and seems to encode a polypeptide with a kinase domain that is highly homologous with, but distinct from, that of the epidermal growth factor (EGF) receptor. (
  • Kinetochore clustering, frequently observed in yeasts, plays a key role in genome organization and chromosome segregation. (
  • Determine the locus of each gene listed on the Human Genome sheet. (
  • In 1999 , researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. (
  • The Human Genome Project (HGP) endeavored to map the human genome down to the nucleotide (or base pair) level and to identify all the genes present in it. (
  • Using GPSeq, we mapped the radial organization of the human genome at 100-kb resolution, which revealed radial patterns of genomic and epigenomic features and gene expression, as well as A and B subcompartments. (
  • By combining radial information with chromosome contact frequencies measured by Hi-C, we substantially improved the accuracy of whole-genome structure modeling. (
  • Runs of homozygosity, or ROH, are segments of the genome where both chromosomes are identical. (
  • With the announcement of the 'completion' of the entire human genome in April 2003, it's just a matter of time. (
  • According to the ISI Web of Knowledge [ 4 ] (as of October 31 2003), among 3,001 articles and reviews (keywords 'human genome') written from 1999 to 2002, the first two chromosome completion papers were among the top ten most-cited. (
  • As expected, the two papers published in 2001 reporting the human genome draft sequence, by the International Human Genome Sequencing Consortium [ 5 ] and Celera Genomics [ 6 ], were the most-cited, with 2,666 and 2,058 citations, respectively. (
  • While the syntenic regions of these two chromosomes in other species are not necessarily finished to the same high quality, for example for mouse, rat and chicken, they are available at various levels of draft from whole-genome shotgun assemblies. (
  • Here, using genome-wide analyses of X, Y, autosomal and mitochondrial DNA, in combination with extensive population genetic simulations, we show that low observed Y chromosome variability is not consistent with a purely neutral model. (
  • Natural slection obviously reduces the diversity of Y chromosome because the selection is based on the autosomal genome and Y-chromosome is passive and remains mostly unchanged. (
  • A single MBD1 gene is located on chromosome 18 of both the human and mouse genome ( 16 ). (
  • It is an unusual segment of the human genome since, apart from two small regions in which pairing and exchange take place with the X chromosome, it is male-specific and haploid, and escapes from recombination. (
  • Maren Bell and Robert Mortimer Human Genome Center Divisionof Cel. (
  • Recently Dennis Venema joined with Scot McKnight to publish a book, Adam and the Genome , in which they claim that there never was an original pair of humans like Adam and Eve. (
  • Whole Genome Shotgun Sequencing (WGSS) was subsequently performed on the Hulk, from which chromosome γ was assembled and Bacterial Artificial Chromosomes (BAC) were created. (
  • Europe's most powerful supercomputer , MareNostrum , will be used in human genome research, protein research, weather forecasting and the design of new drugs? (
  • The human genome is the genome of Homo sapiens , which is stored on 23 chromosome pairs. (
  • The haploid human genome occupies a total of just over 3 billion DNA base pairs . (
  • The Human Genome Project (HGP) produced a reference sequence of the euchromatic human genome, which is used worldwide in biomedical sciences . (
  • The haploid human genome contains ca. 23,000 protein-coding genes , far fewer than had been expected before its sequencing. (
  • 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. (
  • 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. (
  • The human genome has many different regulatory sequences which are crucial to controlling gene expression . (
  • Protein-coding sequences (specifically, coding exons ) comprise less than 1.5% of the human genome. (
  • [ 4 ] Aside from genes and known regulatory sequences, the human genome contains vast regions of DNA the function of which, if any, remains unknown. (
  • These regions in fact comprise the vast majority, by some estimates 97%, of the human genome size . (
  • In 1991 a project called the Human Genome Project began to use computers to map the three billion base pairs which make up the 46 human chromosomes. (
  • Chapter 1 What is in a Human Genome? (
  • A genome-wide DNA methylome analysis revealed widespread EtOH-induced alterations with significant hypermethylation of many regions of chromosomes. (
  • The identification of such imbalances on a genome-wide level was until recently only feasible by investigating metaphase chromosomes under a microscope. (
  • The latest developments in microarray technology, however, enable assessment of copy number of thousands to millions of loci across the human genome at a resolution far surpassing that of conventional karyotyping. (
  • Human papillomaviruses (HPVs) are small DNA tumor viruses that contain a double-stranded genome of only approximately 8,000 base pairs. (
  • Within this model of genome architecture in human sperm, structural organization of chromosomes remain largely unresolved. (
  • 4. The oligonucleotide of claim 1, wherein the chromosome-specific sequence is less than 84% identical to all other contiguous nucleic acid sequences within the human genome. (
  • The Human Genome and Neonatal Care 18. (
  • Here we revisit this issue by making use of the available human and chimpanzee genome sequence to study the relationship between chromosomal rearrangements and rates of DNA sequence evolution. (
  • Contrary to previous findings for this pair of species, we show that genes located in the rearranged chromosomes that differentiate the genomes of humans and chimpanzees, especially genes within rearrangements themselves, present lower divergence than genes elsewhere in the genome. (
  • 22 PAIRS SOMATIC CHR 1 PAIR SEX CHR ________________________________________________ [1] The sequence of the human genome. (
  • The research paper, authored with Stanford biology Professor Marcus Feldman, Devin Absher and Richard Myers of the HudsonAlpha Institute for Biotechnology, and Jun Li of the University of Michigan, appeared Thursday in the American Journal of Human Genetics. (
  • HUMAN HEREDITY presents the concepts of human genetics in clear, concise language and provides relevant examples that you can apply to yourself, your family, and your work environment. (
  • 1. A Perspective on Human Genetics. (
  • 4. Pedigree Analysis in Human Genetics. (
  • 18. Genetics of Behavior. (
  • 19. Population Genetics and Human Evolution. (
  • These unique properties of the Y have important consequences for its mutation processes, its genes, and its population genetics: Y chromosomes pass down from father to son largely unchanged, except by the gradual accumulation of mutations. (
  • It seems that there is no escape from mutation rate controversies in human genetics. (
  • American biologist Walter Sutton knew Mendel's principles of genetics work on peas, and suggested that chromosomes held the secret of inheritance. (
  • The following sections deal with the definition of human mendelian inheritance, the origins of human cytogenetics, the early development of the human gene map and the transition from biochemical genetics to human molecular genetics, the relatively recent studies that have shown how mendelian principles are increasingly modifiable, and finally advances in the treatment and management of genetic disorders, which are placed in their social context. (
  • The potential impact of nanopore sequencing on human genetics. (
  • On chromosome 3 there's a gene with a special role in the history of genetics. (
  • The results of the present study suggested that loss of chromosome 13 and the amplification of chromosome 20 might be early genetic events involved in ovarian cell immortalization, and might be useful targets for the study of genomic aberrations in ovarian carcinogenesis. (
  • 6. Cytogenetics: Karyotypes and Chromosome Aberrations. (
  • Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. (
  • The deletion occurs near the middle of the chromosome at a location designated as q11.2. (
  • The latter class is not only of interest in diversity studies, but also in the understanding of the aetiology of male infertility, which can be caused by deletion of Y-chromosomal genes involved in spermatogenesis (17, 18). (
  • 22q13 deletion syndrome (Phelan-McDermid syndrome): The deletion of the distal tip of the chromosome 22 is related to moderate to severe developmental delay and mental retardation. (
  • A group of candidate tumor suppressor genes (designated CACNA2D2, PL6, 101F6, NPRL2, BLU, RASSF1, FUS1, HYAL2 , and HYAL1 ) has been identified in a 120-kb critical tumor homozygous deletion region (found in lung and breast cancers) of human chromosome 3p21.3. (
  • Deletion of chromosome 7q is also common in MDS and AML. (
  • Loss of whole chromosome 7 or deletion of the long arm are detected in up to 20% of patients with MDS or AML and the highest frequency is noted in MDS and AML arising after cytotoxic therapy (3). (
  • Sixty percent of AS patients demonstrate a chromosome 15qll- 13 cytogenetic or molecular deletion. (
  • 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]. (
  • Meiotic spindle formation in mammalian oocytes: implications for human infertility Namgoong, Suk;Kim, Nam-Hyung 2018-02-01 00:00:00 Abstract In the final stage of oogenesis, mammalian oocytes generate a meiotic spindle and undergo chromosome segregation to yield an egg that is ready for fertilization. (
  • Abstract -Human essential hypertension is a complex, multifactorial, quantitative trait under a polygenic control. (
  • A small extra chromosome is made up of genetic material from chromosome 22 that has been abnormally duplicated (copied). (
  • The extra chromosome is known as a derivative 22 or der(22) chromosome. (
  • As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. (
  • Chromosome abnormalities in CML. (
  • Similar additional chromosome abnormalities were observed in the terminal stage of the disease in 5 of 9 patients with aneuploid cell lines. (
  • Other chromosomal conditions: Other changes in the number or structure of chromosome 22 can have a variety of effects, including mental retardation, delayed development, physical abnormalities, and other medical problems. (
  • A wide range of numerical and structural chromosome abnormalities including translocations, deletions, and duplications, visible in banding cytogenetic techniques, has been reported in autistic patients [ 1 ]. (
  • Turner syndrome (TS) is characterized with abnormal chromosome type in which all or part of one of the sex chromosomes is absent or has other abnormalities.1 It is one of the most common genetic disorders affecting approximately one in every2000 live-born females.23 Girls with TS typically experience gonadal dysfunction and short stature. (
  • It is well known that for patients with advanced maternal age, there is an increased risk of chromosome abnormalities in the embryos they produce. (
  • Performing the biopsy at cleavage stages has a biological problem as this is the stage when human embryos show high levels of chromosome abnormalities (Harper et al, 1995, Munne et al, 1995) and so analysis of one cell from these embryos is not representative of the rest of the embryo. (
  • Cytogenetic disorders with visible chromosomal abnormalities are evidenced by either an abnormal number of chromosomes or some alteration in the structure of one or more chromosomes. (
  • Either trisomy or monosomy involving the sex chromosomes yields relatively mild abnormalities. (
  • Additionally, we review the mechanistic aspects of meiotic spindle formation and examine the factors implicated in the development of spindle abnormalities and erroneous chromosome segregation. (
  • In later sections, we describe the roles of spindle assembly checkpoint (SAC) and cohesin in regulating the fidelity of segregation and show that abnormalities in quality control mechanisms of chromosome segregation can result in aneuploidy. (
  • We evaluated loss of heterozygosity (LOH) in 44 patients (18 MDS and 26 AML, diagnosed according to WHO classification criteria) at diagnosis, using a four-microsatellite marker panel: an intragenic marker on the 7th intron of gene IRF-1 of the 5q31.1 region and three markers located inside the 7q31.1 region and correlated the LOH with karyotype abnormalities. (
  • Cytogenetic abnormalities by G-banding were found in 36% (16/44) of the patients (2 of 18 MDS and 14 of 26 AML patients). (
  • Chromosome abnormalities are important markers of genetic instability but are considered to be late events during MDS transformation and AML evolution. (
  • To think about the problem of congression, it is important to consider what the end point of this process looks like: all sister chromatids (duplicated chromosomes) are positioned halfway between the two spindle poles, with sister kinetochores bound to microtubule bundles, the so-called kinetochore (K)-fibres that emanate from opposite spindle poles. (
  • The familiar X shape actually refers to 2 identical chromosomes referred to as sister chromatids. (
  • A centromere is a region of DNA typically found near the middle of a chromosome where two identical sister chromatids come closest in contact. (
  • at the end of the S stage, each chromosome has two identical DNA double helix molecules, called sister chromatids. (
  • This page was last edited on 17 June 2018, at 16:06. (
  • More than 30 unique sequence microclones from each library were analyzed by Southern blot hybridization to demonstrate that they are human specific and were derived from chromosome 18. (
  • Segmental duplications in pericentromeric regions are unique in that around 30% of their sequence can be traced to duplications occurring from other chromosomes. (
  • 1 ] published 'The DNA sequence of human chromosome 22', in December 1999. (
  • This was the first 'essentially' complete human chromosome sequence to be finished. (
  • The speciation model of suppressed recombination has recently been tested by gene and DNA sequence comparisons between humans and chimpanzees, between Drosophila species, and between species related to Anopheles gambiae , the vector of malignant malaria in Africa. (
  • Considering that our analysis focused on approximately 8.97 Mbp of sequence from the Y chromosome X-degenerated region, this rate is equivalent to 0.53 × 10−9 bp−1 year−1. (
  • The specific over-representation of sequences mapped to 22q12.3-13.32 suggest the presence of a DNA sequence important to BCNU survival and/or resistance located in this region of chromosome 22. (
  • 1. A synthetic oligonucleotide comprising: a chromosome-specific sequence consisting of 25-35 contiguous nucleotides perfectly complementary to a repeat sequence on a specific human chromosome, wherein the chromosome-specific sequence is less than 84% identical to a consensus repeat sequence of all human chromosomes. (
  • 5. The oligonucleotide of claim 1, wherein the chromosome-specific sequence is specific for an alpha monomer repeat sequence from a chromosome selected from the group consisting of the Y chromosome, chromosome 2, and chromosome 4. (
  • 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. (
  • 1 DNA Organization in the Interphase Nucleus and Metaphase Chromosome. (
  • In the absence of the metaphase plate arrangement, kinetochore clustering in yeast species is believed to facilitate timely kinetochore-microtubule interactions to achieve bivalent attachments of chromosomes during metaphase. (
  • On the other hand, kinetochores do not cluster at any stage of the cell cycle in most metazoans, where the formation of the metaphase plate aligns all chromosomes on a single plane. (
  • Place the correctly colored dot under each of the metaphase replicated chromosome pairs. (
  • This question has captivated mitosis researchers for over half a century because the alignment of chromosomes and the formation of a metaphase plate is a universal feature of animal cells ( Pereira and Maiato, 2012 ). (
  • Chromosome states during prometaphase and metaphase. (
  • Cell division is arrested during metaphase, when the chromosome material is condensed. (
  • Herein, we describe the recent advances in understanding the mechanisms controlling formation of the meiotic spindle in metaphase I (MI) and metaphase II (MII) in mammalian oocytes, and focus on the differences between mouse and human oocytes. (
  • Partial trisomy 9q resulting from a familial translocation t(9;16)(q32;q24). (
  • A previous study on a Tunisian boy carrying a t(7;16) translocation identified the 7p22.1 as a positional candidate region for autism on chromosome 7. (
  • We proposed Q6NUR6 (RNF216L) as a candidate gene for autism due to its vicinity to the translocation breakpoint on the chromosome derivative 7. (
  • Cytogenetic and molecular investigations revealed a de novo balanced translocation 46, XY, t(7;16)(p22.1;p11.2) in the patient. (
  • We mapped the breakpoints of the translocation on chromosomes 7 and 16 by fluorescence in situ hybridization (FISH). (
  • Whole chromosome paints screen confirmed the presence of the t(7;16) translocation, showed that the chromosomal rearrangement implicates the chromosomes 7 and 16 only, and established that the translocation is reciprocal and apparently balanced (Figure 1(a) ). (
  • In most individuals with 46,XX testicular disorder of sex development, the condition results from an abnormal exchange of genetic material between chromosomes (translocation). (
  • The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. (
  • Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 in the form of a der(22) chromosome. (
  • A translocation involving chromosome 11 can cause a type of cancerous tumor known as Ewing sarcoma. (
  • The West Liao River valley in Northeast China is an ecologically diverse region, populated in prehistory by human populations with a wide range of cultures and modes of subsistence. (
  • 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. (
  • Evidence of prehistoric demographic expansions has been detected in the mitochondrial diversity of most human populations and in a Y-chromosome STR analysis, but not in a previous study of 11 Y-chromosome SNPs in Europeans. (
  • Bertorelle, G, Slatkin, M 1995 The number of segregating sites in expanding human populations, with implications for estimates of demographic parameters. (
  • Migration may result in the expansion of a successful set of Y chromosome lineages, while admixture between divergent populations may inflate estimates of diversity in a population. (
  • Chromosome rearrangements (such as inversions, fusions, and fissions) may play significant roles in the speciation between parapatric (contiguous) or partly sympatric (geographically overlapping) populations. (
  • The "suppressed-recombination" model of speciation points out that chromosome rearrangements act as a genetic filter between populations. (
  • Mutations adaptive to local conditions will, therefore, accumulate differentially in the protected chromosome regions so that parapatric or partially sympatric populations will genetically differentiate, eventually evolving into different species. (
  • Please see Pattern and process in human genetic diversity: from genomes to populations for information about my current Fellowship project. (
  • We have coordinated a large collaborative study to test hypotheses for the origins of modern European populations from a Y chromosome perspective (9, 10), interpreting patterns of diversity in terms of both the impact of the arrival of agriculture in Europe, and of linguistic and geographical barriers to gene flow. (
  • A condition known as mosaicism results from an error in the distribution of chromosomes between daughter cells during an early embryonic cell division, producing two and sometimes three populations of cells with different chromosome numbers in the same individual. (
  • With rare exceptions, animals consist of sexually reproducing populations that are roughly half male and half female-at least that is a human perspective that. (
  • The complete set of chromosomes in a cell arranged in pairs in order of decreasing size is termed a Karyotype. (
  • Paste or tape the chromosome pairs together on the karyotype sheet, starting with the first chromosome pair and ending with two X's or the X and Y. (
  • 18. What is a karyotype? (
  • The chromosome constitution of an individual, karyotype, can be analyzed following tissue culture of an appropriate sample. (
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (
  • Here we have identified shank-interacting protein-like 1 (SIPL1) as a PTEN-NR in human tumor cell lines and human primary cervical cancer cells. (
  • MBD1 has functionally unclear zinc finger motifs (CXXC1, CXXC2, and CXXC3) that share homology with DNA methyltransferase-1 (Dnmt1) ( 11 ), human trithorax protein ( 12 , 13 ), and human-CpG binding protein ( 14 ). (
  • There are estimated ca. 23,000 human protein-coding genes . (
  • Effects of recombinant human growth hormone therapy on carbohydrate lipid and protein metabolisms of children with Turner syndrome. (
  • ABSTRACTObjective: To study the effect of recombinant human growth hormone (rhGH) therapy on carbohydrate lipid and protein metabolisms of Turner syndrome (TS).Methods: Total 45 patients with TS admitted between Jul. (
  • A chromosome is an organized structure of DNA and protein found in cells. (
  • In kinetochores, knock down of NEK2 causes the displacement of the centromeric protein Mad2 from kinetochores and impairs chromosome segregation ( Moniz,2011 ). (
  • Mouse polyclonal antibody raised against a full-length human VPS4A protein. (
  • VPS4A (NP_037377.1, 1 a.a. ~ 437 a.a) full-length human protein. (
  • In humans, two paralogs of the yeast protein have been identified. (
  • Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. (
  • Scheffner M, Huibregtse JM, Vierstra RD, Howley PM (1993) The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53. (
  • 16359. Concept 16: One gene makes one protein. (
  • Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast.The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. (
  • In the four years since the publication of the first two 'complete' human chromosome sequences the type of research being done on each has shifted subtly, reflecting the impact of genomic data on biological science in general. (
  • As the first two chromosome sequences have been complete for a relatively long time (in comparison to the rest of the chromosomes), now seems an appropriate time to take a look at how research on these chromosomes, and how genomic research in general, has been affected. (
  • The types of articles that cited the first two chromosome publications covered a range of research areas, with the majority being comparative genomics, comparative mapping, gene discovery, haplotype analysis, genomic organization, and chromosome-wide gene expression analysis. (
  • After several rounds of hybridization, we identified one genomic BAC End clone (RP11-152I5) specific of band 7p22.1 and which is spanning the breakpoint on chromosome 7. (
  • Mutation of the de novo DNA methyltransferase 1-36 (Dnmt3b) causes immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome in humans, with characteristics of genomic instability ( 18 ). (
  • DNA methylation is a common epigenetic marker and plays important roles in the regulation of gene expression, genomic imprinting, X-chromosome inactivation, embryonic development, and cancer5. (
  • Another comparative genomic approach to locating regulatory sequences in humans is the gene sequencing of the puffer fish . (
  • Several groups and companies reported on their development and clinical application of array CGH (comparative genomic hybridisation - which just looks at the chromosomes) or SNP arrays (single nucleotide polymorphism - which can look at the chromosomes and genes ) for PGS. (
  • White AE, Livanos EM, Tlsty TD (1994) Differential disruption of genomic integrity and cell cycle regulation in normal human fibroblasts by the HPV oncoproteins. (
  • 2000) The human papillomavirus type 16 E6 and E7 oncoproteins cooperate to induce mitotic defects and genomic instability by uncoupling centrosome duplication from the cell division cycle. (
  • Despite very significant recent progress in genomic and statistical tools, the genetic dissection of human essential hypertension still provides a major challenge. (
  • The RBMY1 proteins are encoded by repeated regions of the Y chromosome, mostly within the AZFb region. (
  • A series of observations revealed a diverse group of proteins that contribute to the process of kinetochore clustering to ensure proper chromosome segregation. (
  • The X chromosome likely contains 800 to 900 genes that provide instructions for making proteins. (
  • 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. (
  • A chromosome is a packaged unit of DNA and associated proteins. (
  • The DNA is tightly coiled many times around proteins called histones that support the chromosome structure. (
  • Chromosome 11 likely contains 1,300 to 1,400 genes that provide instructions for making proteins. (
  • The closest mammalian NimA homologue NEK2 is a core component of the human centrosome and its activity and expression peak in S and G2 phase, during which it interacts with and phosphorylates several centrosomal proteins. (
  • 1994) Elevated expression and activity of mitotic regulatory proteins in human papillomavirus-immortalized keratinocytes. (
  • 7. HOW MANY PROTEINS IN HUMAN PROTEOME : dependence between detection limit of the staining method and number of proteins spots on 2DE. (
  • Trisomy 13 can also result from an extra copy of chromosome 13 in only some of the body's cells (mosaic trisomy 13). (
  • People normally inherit one copy of chromosome 11 from each parent. (
  • Boys and men with 48,XXXY syndrome have the usual single Y chromosome plus three copies of the X chromosome, for a total of 48 chromosomes in each cell. (
  • Beckwith-Wiedemann syndrome results from the abnormal regulation of genes on part of the short (p) arm of chromosome 11. (
  • Like the other genetic changes responsible for Beckwith-Wiedemann syndrome, these changes disrupt the normal regulation of genes in this part of chromosome 11. (
  • Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. (
  • In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 22 attached to a piece of chromosome 11. (
  • People with Emanuel syndrome typically inherit the der(22) chromosome from an unaffected parent. (
  • Deletions on chromosomes 5 and 7 are frequently seen in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). (
  • Trisomy 18 (Edwards syndrome) is the second most common trisomy in human. (
  • M. Serratosa, M D t Angelman syndrome (AS) results from lack of genetic contribution from maternal chromosome 15qll-13. (
  • 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. (
  • Chromosome 17 is one of the 23 pairs of chromosomes in humans . (
  • Chromosome 17 spans more than 83 million base pairs (the building material of DNA ) and represents between 2.5 and 3% of the total DNA in cells . (
  • Chromosome 3 spans almost 200 million base pairs (the building material of DNA ) and represents about 6.5 percent of the total DNA in cells . (
  • Chromosome 22 is the second smallest human chromosome, spanning about 49 million base pairs (the building material of DNA ) and representing between 1.5 and 2 percent of the total DNA in cells . (
  • The sex chromosomes form one of the 23 pairs of human chromosomes in each cell. (
  • The X chromosome spans about 155 million DNA building blocks (base pairs) and represents approximately 5 percent of the total DNA in cells. (
  • Chromosome 13 spans about 113 million base pairs (the building material of DNA ) and represents between 3.5 and 4 % of the total DNA in cells . (
  • Twenty-two of these are autosomal chromosome pairs , while the remaining pair is sex-determining . (
  • Humans have 23 pairs of chromosomes, 46 in all: 44 autosomes and two sex chromosomes . (
  • They could see that chromosomes came in pairs, and that human cells all contained 23 matching pairs. (
  • In humans there are 46 chromosomes, or 23 pairs of chromosomes ( diploid ), in every cell except the mature egg and sperm which have a set of 23 chromosomes ( haploid ). (
  • Each organism of a species is normally characterized by the same number of chromosomes in its somatic cells, 46 being the number normally present in humans, including 22 pairs of autosomes and the two sex chromosomes (XX or XY), which determine the sex of the organism. (
  • In the language of the geneticist, trisomy refers to the presence of an additional chromosome that is homologous with one of the existing pairs so that that particular chromosome is present in triplicate. (
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (
  • Two copies of chromosome 11, one copy inherited from each parent, form one of the pairs. (
  • Chromosome 11 spans about 135 million DNA building blocks (base pairs) and represents between 4 and 4.5 percent of the total DNA in cells. (
  • build a human Y-chromosome phylogeny from 69 male genomes. (
  • Cytogenetic and molecular genetic characterization of immortalized human ovarian surface epithelial cell lines: consistent loss of chromosome 13 an. (
  • When possible, 20 G-banded metaphases were analyzed and classified according to the International System for Human Cytogenetic Nomenclature (5). (
  • This model encounters a disabling difficulty: namely, how to account for the spread in a population of a chromosome rearrangement after it first arises as a mutation in a single individual. (
  • In a small percentage of cases, trisomy 13 is caused by a rearrangement of chromosomal material between chromosome 13 and another chromosome. (
  • Other abnormal structural changes in the chromosome are consequences of some kind of chromosomal breakage, with either the loss or rearrangement of genetic material. (
  • Chromosomal breakage occurs during apoptosis and chromosome rearrangement. (
  • Chromosome 4, in particular, presents higher divergence in genes located within its rearrangement. (
  • This exercise will visually present the mode of inheritance of chromosomes through three generations, demonstrating the percent of chromosome inheritance from a grandparent as being a matter of chance. (
  • Archibald Garrod was the first to connect a human disorder with Mendel's laws of inheritance. (
  • It should be noted that these rare syndromes with mendelian inheritance account for a very small fraction of the pathological human blood pressure variation. (
  • Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences (англ. (
  • Furthermore, the availability of the entire chromosome sequences seems to have facilitated the localization of some disease loci on chromosomes 21 and 22. (
  • These vertebrates have essentially the same genes and regulatory gene sequences as humans, but with only one-eighth the "junk" DNA. (
  • A telomere is a region of repetitive DNA sequences at the end of a chromosome, which protects the end of the chromosome from deterioration or from fusion with neighboring chromosomes. (
  • Cells selected for BCNU resistance either in vivo or in vitro retain sequences mapped to chromosome 22. (
  • Thus, selection for cells with over-representation of chromosome 22 sequences by BCNU treatment suggests the presence on this chromosome of a gene or genes that confer a selective advantage to these cells. (
  • The specific over-representation of chromosome 22 sequences provides strong evidence that a gene(s) on this chromosome is important for survival after therapy and/or therapy resistance. (
  • Telomeres are sequences of DNA on the ends of chromosomes that protect chromosomes from sticking to each other or tangling, which could cause irregularities in normal DNA functions. (
  • The genetic profiles of five human ovarian surface epithelial (HOSE) cell lines immortalized by retroviral transfection of the human papillomavirus (HPV) E6/E7 genes were thoroughly characterized by chromosome banding and fluorescence in situ hybridization (FISH), at various passages pre- and post-crisis. (
  • The aim of the technique is to help determine the best IVF embryo for transfer on the grounds of the polar body or embryo's chromosomes , by performing biopsy and analysis of the chromosomes using FISH (fluorescence in situ hybridisation). (
  • Here, using fluorescence in-situ hybridization (FISH) with arm-specific DNA probes of chromosomes 1, 2 and 5, we visualized arm domains and established hierarchical levels of sperm chromatin structures. (
  • Using epifluorescence microscopy following two-color fluorescence in-situ hybridization (FISH) with micro-dissected probes for the p-arms and q-arms of the large metacentric chromosome 1 and chromosome 2 (CHR1 and CHR2), and the large submetacentric chromosome 5 (CHR5), we dissected the internal organization of CTs, and describe here successive hierarchies of chromosome structures. (
  • The parental origin of the additional chromosome leading to meiotic errors is imperative to understand the etiology of trisomy 18. (
  • 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. (
  • The main non-African super-haplogroup F-R shows an average variation of 534.8 (±28.7) SNPs, corresponding to a MRCA of ~110,000 years ago, in agreement with fossil remains of archaic Homo sapiens out of Africa (7, 18) though not with mtDNA, whose M and N super-haplogroups coalesce at a younger age (13). (
  • Humans are the only living species in the Homo genus. (
  • It is also possible to make a photomicrograph of a cell nucleus, cut it apart, and rearrange it so that the individual chromosomes are in order and labeled. (
  • Still, there are considerable differences between individual chromosomes. (
  • These changes include an extra piece of chromosome 22 in each cell (partial trisomy), a missing segment of the chromosome in each cell (partial monosomy), and a circular structure called ring chromosome 22 that is caused by the breakage and reattachment of both ends of the chromosome. (
  • People normally have two copies of this chromosome. (
  • You should have two copies of the chromosome sheet to represent your genetic makeup. (
  • The following chromosomal conditions are associated with changes in the structure or number of copies of x chromosome. (
  • Having extra copies of multiple genes on the X chromosome affects many aspects of development, including sexual development before birth and at puberty. (
  • Trisomy 13 occurs when each cell in the body has three copies of chromosome 13 instead of the usual two copies. (
  • As a result, a person has the two usual copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. (
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 11. (
  • For most genes on this chromosome, both copies of the gene are expressed, or "turned on," in cells. (
  • These individuals have two normal copies of chromosome 11, two normal copies of chromosome 22, and extra genetic material from the der(22) chromosome. (
  • In cells where whole copies of chromosome 22 were not identified, numerous fragments of this chromosome were retained and inserted into several marker and derivative chromosomes. (
  • Human chromosome 17 pair after G-banding . (
  • Chromosome 17 pair in human male karyogram . (
  • Human chromosome 3 pair after G-banding . (
  • Chromosome 3 pair in human male karyogram . (
  • Each person normally has one pair of sex chromosomes in each cell. (
  • Does Barcoding DNA Reveal a Single Human Ancestral Pair? (
  • Each parent contributes one chromosome to each pair, so children get half of their chromosomes from their mothers and half from their fathers. (
  • The designation for each member of the seventeenth largest human autosomal chromosome pair. (
  • Sad1 is nonessential for viability in C. neoformans but is required for proper growth and high-fidelity chromosome segregation. (
  • The existence of both pathways may provide a fail-safe mechanism to ensure high fidelity of chromosome segregation during meiosis. (
  • Understanding the mechanisms of MI/MII spindle formation, spindle assembly checkpoint, and chromosome segregation, in mammalian oocytes, will provide valuable insights into the molecular mechanisms of human infertility. (
  • Introduction In the final stage of mammalian oocyte maturation, a meiotic spindle is formed within the oocyte, followed by segregation of bivalent chromosomes and extrusion of the first polar body [1]. (
  • Error-free segregation of chromosomes during oocyte maturation is essential for the normal development of mammalian embryos after fertilization [2]. (
  • Recent studies have shown that the mechanisms for spindle formation and chromosome segregation, in human oocytes, are distinct from those in mouse oocytes [7, 8]. (
  • The Escherichia coli SMC complex, MukBEF, acts in chromosome segregation. (
  • The microsatellites chosen corresponded to chromosome regions frequently deleted in MDS/AML. (
  • However, when a sufficient number of karyotypes are done it is possible to identify cells with over-representation of chromosome 22 in untreated tumors. (
  • Alternatively, selection acting on new mutations, and affecting linked neutral sites, could reduce variability on the Y chromosome. (
  • While we show that purifying selection removing deleterious mutations can explain the low diversity on the Y chromosome, we cannot exclude the possibility that positive selection acting on beneficial mutations could have also reduced diversity in linked neutral regions, and may have contributed to lowering human Y chromosome diversity. (
  • Mutations associated with the rearranged chromosomes cannot flow from one to another population, whereas genetic exchange will freely occur between colinear chromosomes. (
  • The compact chromosome territories, which in sperm have a preferred intranuclear localization, have an extended conformation represented by a 2000 nm chromatin fiber. (
  • When scientists discovered a 3.3 million-year-old skeleton of a child of the human lineage (hominin) in 2000, in the village of Hadar, Ethiopia, they were able to study growth and development of Australopithecus afarensis, an extinct hominin species. (
  • Electroporation of Yeast Artificial Chromosomes ( Maren Bell and Robert Mo. (
  • Transformation of yeast with yeast artificial chromosomes (YACs) has traditionally been performed by a PEG-spheroplast procedure. (
  • The human gemomic HindIII fragments hybridized to each microclone were determined and microclones crosshybridized to rodent species were identified. (
  • As noted above, the chromosome number varies in different species. (
  • Here we will examine serious proposals to modify the human germline to "improve" the human species, or perhaps even to create an entirely new species of humans. (
  • Biologist Daniel Koshland of the University of California at Berkeley, a former editor of SCIENCE magazine, is a leading advocate of genetic engineering to improve the human species. (
  • He suggests the human race could eventually divide into two species, one with a normal set of genes and the other with various expensive genetic "improvements. (
  • We also used 17 Y short tandem repeat loci in the non-recombining portion of the Y chromosome. (
  • The results of our SNP analyses can be reconciled with the expansion of male effective population sizes inferred from STR loci, and with mitochondrial evidence, by admitting that humans were essentially polygynous during much of their history. (
  • Current statistics compiled by the National Center for Biotechnology Information demonstrate, that as of December 2002, approximately 14000 human genetic loci have been established, hundreds of which have been characterized as influencing genetic disease and polymorphic sites. (
  • 1]. The discovery and physical mapping of human genetic components have greatly benefited by recent technological developments in molecular biology, automated sequencing, and digital storage technology, thus allowing for an exponential increase in the discovery and differential analysis of genetic loci. (
  • When Michael Frederic Guyer (1874-1959) looked at human chromosomes in 1910, he estimated the diploid. (
  • We previously demonstrated that cells selected for resistance to 1,3-bis(2-chloroethyl)-1-nitrosourea (BCNU) are near-diploid, with over-representation of part or all of chromosomes 7 and 22. (
  • Karyotypic analyses demonstrated that cells selected for BCNU resistance were near-diploid with over-representation of chromosomes 7 and 22. (
  • 2019 Jun 28;16(155):20190214. (
  • A first conclusion of our analysis is that divergence is lower for genes located in rearranged chromosomes than for those in colinear chromosomes. (
  • The RFLP was mapped to chromosome 10pter-10q23 using somatic cell hybrids and to 10p13 by in situ hybridization. (
  • Scientists have applied somatic cell nuclear transfer to clone human and mammalian embryos as a means to produce stem cells for laboratory and medical use. (
  • The HBP gene is composed of eight exons covering 19.5 kb on the short arm of chromosome 4. (
  • By examining the differences between modern Y chromosomes (as DNA polymorphisms) we can attempt to reconstruct a history of human paternal lineages (1). (
  • The role that chromosomal rearrangements might have played in the speciation processes that have separated the lineages of humans and chimpanzees has recently come into the spotlight. (
  • Over the past three years, the role that these chromosomal rearrangements might have played in the speciation processes that have separated the lineages of humans and chimpanzees has come into the spotlight. (
  • Most human segmental duplications are less than 300 kb in length, whereas research has begun to show that other primates, such as the chimpanzee, contain more duplications. (
  • From this, it has been observed that new-lineage segmental duplications map near shared ancestral duplications when comparing the human and chimpanzee. (
  • Fortunately, in the case of human chromosome 21, the equivalent chromosome in chimpanzee, chromosome 22, is now available in high-quality finished form [ 7 ], and the same is being done for regions similar to human chromosome 22. (
  • For geneticists, "Chuman" therefore refers to a hybrid of male chimpanzee and female human, while "Humanzee" or "manpanzee" refers to a hybrid of male human and female chimpanzee. (
  • In summary, without excluding it, our results suggest that chromosomal speciation has not been common along the human and chimpanzee lineage. (
  • Y Chromosome Consortium (February 2002). (
  • 2002) A controlled trial of a human papillomavirus type 16 vaccine. (
  • Munger K, Howley PM (2002) Human papillomavirus immortalization and transformation functions. (
  • Nguyen DX, Westbrook TF, McCance DJ (2002) Human papillomavirus type 16 E7 maintains elevated levels of the cdc25A tyrosine phosphatase during deregulation of cell cycle arrest. (
  • FISH probes revealed that in all cases, save the Hulk, the γ-chromosome was associated with the centromere of the X-chromosome. (
  • Additional FISH analysis using bacterial artificial chromosome probes spanning the length of chromosome 22 have allowed us to map the over-represented region to 22q12.3-13.32. (
  • 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. (
  • 13 Chromosome Alterations and Oncogenes in Human Neoplasia. (
  • 1993) Epidermal cancer associated with expression of human papillomavirus type 16 E6 and E7 oncogenes in the skin of transgenic mice. (
  • Cleavage stage biopsy is a good option for PGD for inherited disorders as it allows analysis of the paternal and maternal genes/chromosomes and a fresh transfer, but it may not be the optimal stage to biopsy for PGS (as described above). (
  • People with paternal UPD are also missing genes that are active only on the maternal copy of the chromosome. (
  • Mosaic paternal UPD leads to an imbalance in active paternal and maternal genes on chromosome 11, which underlies the signs and symptoms of the disorder. (
  • Early in embryonic development in females, one of the two X chromosomes is randomly and permanently inactivated in cells other than egg cells. (
  • 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 . (
  • Different kinds of organisms have different numbers of chromosomes. (
  • Among them, loss of chromosome 13 was common change observed in all lines. (
  • A small percentage of retinoblastoma cases are caused by deletions in the region of chromosome 13 (13q14) containing the RB1 gene. (
  • 8 Steroid Sulphatase Inactivation Patterns and X-chromosome Inactivation. (
  • 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. (
  • Cell division in the germ cells, eggs and sperm (meiosis), results in the creation of daughter cells with half the number of chromosomes as the original cell (haploid cells). (
  • this may explain why meiosis in human oocytes is often error-prone. (
  • There were 28 cases (16%) where nondisjunction took place in meiosis I(MI), 53 cases (31%) in meiosis II (MII) and in 90 cases (53%) either the error was postzygotic mitosis or the dysfunctional stages could not be determined. (
  • Fluorescent in situ hybridization analyses using whole chromosome paints confirmed this finding. (
  • In this paper, we show that mismatch distributions and tests of mutation/drift equilibrium based on up to 166 Y-chromosome SNPs, in 46 samples from all continents, also fail to support an increase of the male effective population size. (
  • 25. What are the types of chromosome mutation. (
  • mutation analysis at MSY1 provides a tool which should allow us to estimate ages for the most recent common ancestors of groups of chromosomes, as an alternative to microsatellites (7). (
  • Sixteen patients were subjected to Sanger sequencing-based MYD88 mutation study. (
  • Human Biology helps students understand the main themes of biology through the lens of the human body. (
  • Human Biology features three different types of boxed readings. (
  • Known for its unique "Special Topic" chapters and emphasis on everyday health concerns, the 6th Edition of Biology of Humans: Concepts, Applications, and Issues continues to personalize the study of human biology using a conversational writing style, vibrant, easy-to-follow illustrations, abundant applications, and a new emphasis on using everyday science literacy skills. (
  • Biology of Humans: Concepts, Applications, and Issues , 6th Edition is also available via Pearson eText , a simple-to-use, mobile, personalized reading experience that lets instructors connect with and motivate students - right in their eTextbook. (
  • Carlson's history takes us from antiquity to the present day to detail how each component of human reproduction and sexuality was identified and studied, how this knowledge enlarged our understanding of sex determination, and how it was employed to interpret such little understood aspects of human biology as the origin of intersex births. (
  • This volume should attract the great interest of graduate students, postdoctoral fellows, and senior scientists in broad research fields of basic molecular biology, not only the core 3Rs, but also the various related fields (chromosome, cell cycle, transcription, epigenetics, and similar areas). (
  • Differences in the localization and morphology of chromosomes in the human nucleus. (
  • As doctors and researchers have learned more about the differences between these sex chromosome disorders, they have started to consider them as separate conditions. (
  • In this review, we examine the mechanisms of meiotic spindle formation in mammalian oocytes and focus on the differences between these mechanisms in mouse and human oocytes. (
  • Orofacial clefts (OFCs) exhibit sex-specific differences in prevalence and are examples of traits where a search for various types of effects on the X chromosome might be relevant. (
  • Calvin Bridges and Thomas Hunt Morgan discovered the existence of dosage differences on the X chromosome of fruit flies when comparing the allele of white eyes called. (
  • Typical mechanisms responsible for PTEN inactivation in human cancers include genetic and epigenetic events. (
  • X-inactivation ensures that females, like males, have one functional copy of the X chromosome in each body cell. (
  • Because X-inactivation is random, in normal females the X chromosome inherited from the mother is active in some cells, and the X chromosome inherited from the father is active in other cells. (
  • Some genes on the X chromosome escape X-inactivation. (
  • Karyotypic analyses were done to demonstrate the genetic makeup of these cells, and fluorescent in situ hybridization analyses have defined the region(s) of chromosome 22 retained in these BCNU-resistant cells. (
  • We are also developing and analysing other kinds of polymorphisms, including Y-specific microsatellites, and base-substitutions and insertion-deletions (e.g. ref. 16). (
  • It is assumed that these deletions indicate loss of tumor suppressor genes on these chromosomes and until these tumor suppressor genes are identified, the functional consequences of these deletions and the molecular basis of these myeloid disorders cannot be completely understood. (
  • Alterations on chromosome 5, which include interstitial deletions of the long arm or complete loss of the entire chromosome (monosomy 5), are frequently observed in MDS and AML patients (3). (
  • Too often when teaching heredity, teachers do not emphasize that whole chromosomes (linkage groups) are inherited from parents. (
  • WGSS revealed that the genes are located on opposite arms of a novel chromosome. (
  • There exists a novel chromosome, which is somehow intertwined with the centromeric region of the X-chromosome. (
  • Here, we identify a novel chromosome associated with the X-chromosome contain-ing two genes that contribute to the observed Hulk phenotype. (