In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Any method used for determining the location of and relative distances between genes on a chromosome.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
The homologous chromosomes that are dissimilar in the heterogametic sex. There are the X CHROMOSOME, the Y CHROMOSOME, and the W, Z chromosomes (in animals in which the female is the heterogametic sex (the silkworm moth Bombyx mori, for example)). In such cases the W chromosome is the female-determining and the male is ZZ. (From King & Stansfield, A Dictionary of Genetics, 4th ed)
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Actual loss of portion of a chromosome.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of PLANTS.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
The alignment of CHROMOSOMES at homologous sequences.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
A technique for visualizing CHROMOSOME ABERRATIONS using fluorescently labeled DNA probes which are hybridized to chromosomal DNA. Multiple fluorochromes may be attached to the probes. Upon hybridization, this produces a multicolored, or painted, effect with a unique color at each site of hybridization. This technique may also be used to identify cross-species homology by labeling probes from one species for hybridization with chromosomes from another species.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Mapping of the KARYOTYPE of a cell.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
The short, acrocentric human chromosomes, called group G in the human chromosome classification. This group consists of chromosome pairs 21 and 22 and the Y chromosome.
Aberrant chromosomes with no ends, i.e., circular.
An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
The mechanisms of eukaryotic CELLS that place or keep the CHROMOSOMES in a particular SUBNUCLEAR SPACE.
The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A dosage compensation process occurring at an early embryonic stage in mammalian development whereby, at random, one X CHROMOSOME of the pair is repressed in the somatic cells of females.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
Structures within the CELL NUCLEUS of insect cells containing DNA.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
A type of CELL NUCLEUS division, occurring during maturation of the GERM CELLS. Two successive cell nucleus divisions following a single chromosome duplication (S PHASE) result in daughter cells with half the number of CHROMOSOMES as the parent cells.
Structures which are contained in or part of CHROMOSOMES.
The short, metacentric human chromosomes, called group F in the human chromosome classification. This group consists of chromosome pairs 19 and 20.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
The possession of a third chromosome of any one type in an otherwise diploid cell.
The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
DNA constructs that are composed of, at least, all elements, such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, required for successful replication, propagation to and maintainance in progeny human cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
A technique with which an unknown region of a chromosome can be explored. It is generally used to isolate a locus of interest for which no probe is available but that is known to be linked to a gene which has been identified and cloned. A fragment containing a known gene is selected and used as a probe to identify other overlapping fragments which contain the same gene. The nucleotide sequences of these fragments can then be characterized. This process continues for the length of the chromosome.
Nucleoproteins, which in contrast to HISTONES, are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
Genetic loci associated with a QUANTITATIVE TRAIT.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
An aberration in which an extra chromosome or a chromosomal segment is made.
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
Either of the two longitudinally adjacent threads formed when a eukaryotic chromosome replicates prior to mitosis. The chromatids are held together at the centromere. Sister chromatids are derived from the same chromosome. (Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
An individual having different alleles at one or more loci regarding a specific character.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
Extra large CHROMOSOMES, each consisting of many identical copies of a chromosome lying next to each other in parallel.
The process by which a DNA molecule is duplicated.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
The interval between two successive CELL DIVISIONS during which the CHROMOSOMES are not individually distinguishable. It is composed of the G phases (G1 PHASE; G0 PHASE; G2 PHASE) and S PHASE (when DNA replication occurs).
The first phase of cell nucleus division, in which the CHROMOSOMES become visible, the CELL NUCLEUS starts to lose its identity, the SPINDLE APPARATUS appears, and the CENTRIOLES migrate toward opposite poles.
Genotypic differences observed among individuals in a population.
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
Genes that are located on the X CHROMOSOME.
The full set of CHROMOSOMES presented as a systematized array of METAPHASE chromosomes from a photomicrograph of a single CELL NUCLEUS arranged in pairs in descending order of size and according to the position of the CENTROMERE. (From Stedman, 25th ed)
Plasmids containing at least one cos (cohesive-end site) of PHAGE LAMBDA. They are used as cloning vehicles.
Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
The material of CHROMOSOMES. It is a complex of DNA; HISTONES; and nonhistone proteins (CHROMOSOMAL PROTEINS, NON-HISTONE) found within the nucleus of a cell.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Male germ cells derived from SPERMATOGONIA. The euploid primary spermatocytes undergo MEIOSIS and give rise to the haploid secondary spermatocytes which in turn give rise to SPERMATIDS.
Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
Short tracts of DNA sequence that are used as landmarks in GENOME mapping. In most instances, 200 to 500 base pairs of sequence define a Sequence Tagged Site (STS) that is operationally unique in the human genome (i.e., can be specifically detected by the polymerase chain reaction in the presence of all other genomic sequences). The overwhelming advantage of STSs over mapping landmarks defined in other ways is that the means of testing for the presence of a particular STS can be completely described as information in a database.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
Established cell cultures that have the potential to propagate indefinitely.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
Genes that influence the PHENOTYPE only in the homozygous state.
An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE).
PHENOTHIAZINES with an amino group at the 3-position that are green crystals or powder. They are used as biological stains.
A family of high molecular weight Maf transcription factors that contain distinct activation domains.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Structures within the nucleus of archaeal cells consisting of or containing DNA, which carry genetic information essential to the cell.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
Overlapping of cloned or sequenced DNA to construct a continuous region of a gene, chromosome or genome.
An individual in which both alleles at a given locus are identical.
The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.
The degree of replication of the chromosome set in the karyotype.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
The relationships of groups of organisms as reflected by their genetic makeup.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
In the interphase nucleus, a condensed mass of chromatin representing an inactivated X chromosome. Each X CHROMOSOME, in excess of one, forms sex chromatin (Barr body) in the mammalian nucleus. (from King & Stansfield, A Dictionary of Genetics, 4th ed)
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.
The functional hereditary units of BACTERIA.
The genetic complement of a plant (PLANTS) as represented in its DNA.
A characteristic symptom complex.
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
DNA present in neoplastic tissue.
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
A specific subtype of muscarinic receptor found in the lower BRAIN, the HEART and in SMOOTH MUSCLE-containing organs. Although present in smooth muscle the M2 muscarinic receptor appears not to be involved in contractile responses.
DNA constructs that are composed of, at least, elements such as a REPLICATION ORIGIN; TELOMERE; and CENTROMERE, that are required for successful replication, propagation to and maintenance in progeny cells. In addition, they are constructed to carry other sequences for analysis or gene transfer.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.
Small chromosomal proteins (approx 12-20 kD) possessing an open, unfolded structure and attached to the DNA in cell nuclei by ionic linkages. Classification into the various types (designated histone I, histone II, etc.) is based on the relative amounts of arginine and lysine in each.
Deoxyribonucleic acid that makes up the genetic material of fungi.
Genes that are located on the Y CHROMOSOME.
A plant genus of the family POACEAE that is the source of EDIBLE GRAIN. A hybrid with rye (SECALE CEREALE) is called TRITICALE. The seed is ground into FLOUR and used to make BREAD, and is the source of WHEAT GERM AGGLUTININS.
Chromosome regions that are loosely packaged and more accessible to RNA polymerases than HETEROCHROMATIN. These regions also stain differentially in CHROMOSOME BANDING preparations.
The mechanisms by which the SEX of an individual's GONADS are fixed.
Deoxyribonucleic acid that makes up the genetic material of plants.
Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.
Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.
The functional hereditary units of INSECTS.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
The prophase of the first division of MEIOSIS (in which homologous CHROMOSOME SEGREGATION occurs). It is divided into five stages: leptonema, zygonema, PACHYNEMA, diplonema, and diakinesis.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences.
A method for ordering genetic loci along CHROMOSOMES. The method involves fusing irradiated donor cells with host cells from another species. Following cell fusion, fragments of DNA from the irradiated cells become integrated into the chromosomes of the host cells. Molecular probing of DNA obtained from the fused cells is used to determine if two or more genetic loci are located within the same fragment of donor cell DNA.
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Bordelon, M R., Malignant characteristics of somatic cell hybrids of normal human and malignant mouse cells. Abstr. (1974). Subject Strain Bibliography 1974. 446 ...
Work and education. Oslo university hospital is home to Norways largest team of health professionals. The hospital has a nationwide responsibility for a number of national and multi‐regional assignments and national centres of competence, and carry out more t... ...
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 very specific translocation causes Burkitts lymphoma, a cancer that plagues children in equatorial Africa. It involves a DNA break in an immune system antibody gene and the much more rare break in a cancer-promoting gene called c-myc. Previous work had shown that AID was responsible for breaking antibody genes but not c-myc. In fact, scientists thought a host of other factors might be involved in the c-myc break, but AID had been all but ruled out.. Despite the prior studies, Davide Robbiani, a research associate in Nussenzweigs lab and a Leukemia and Lymphoma Society Fellow, believed AID was the culprit. To prove it, he and his colleagues started by deleting the promoter region of the c-myc oncogene, rendering the gene inactive, in a mutant line of mice. By looking for -- and not finding -- the specific translocation in these mice, he showed that c-myc had to be active in order for its DNA break to take place.. He then inserted a DNA tag into the mouse genome that allowed him to induce a ...
Treatments for Chromosome 4, partial trisomy distal 4q including drugs, prescription medications, alternative treatments, surgery, and lifestyle changes.
Researchers at the UC San Diego School of Medicine have pinpointed a mechanism that may help explain how chromosomal translocations - the supposedly random shuffling of large chunks of DNA that frequently lead to cancer - arent so random after all. They have developed a model of such chromosomal mix-ups in prostate cancer which indicates that the male sex hormone (androgen) receptor unexpectedly plays a key role in driving specific translocations in the development of cancer.
Acute leukemia chromosome change may signal need for different therapy :From MedicineWorld.Org. Your gateway to the world of medicine.
This unit provides an introduction to the various types of hybrid panels in use and reviews the status of commercially available panels
1. Chen TR, et al. DLD-1 and HCT-15 cell lines derived separately from colorectal carcinomas have totally different chromosome changes but the same genetic origin. Cancer Genet. Cytogenet. 81: 103-108, 1995. ...
Kao, F and Hartz, J A., Genetic and tumorigenic characteristics of cell hybrids formed in vivo between injected tumor cells and host cells. (1977). Subject Strain Bibliography 1977. 1473 ...
Looking for online definition of pericentric inversion in the Medical Dictionary? pericentric inversion explanation free. What is pericentric inversion? Meaning of pericentric inversion medical term. What does pericentric inversion mean?
In the abnormal myeloma cells several specific translocations have been described that facilitate cell survival. t(4;14) involves expression of the Fibroblast Growth Factor Receptor 3 (FGFR3) in most cases, activation of which initiates intra cellular signalling and activation of anti-apoptotic genes in the myeloma cells. t(11;14) activates the cyclin D1 gene, which promotes the initiation of the cell cycle, enabling myeloma cells to divide and proliferate. Loss of tumour suppressor genes such as Retinoblastoma-1 gene through deletion of chromosome 13q, ongoing p53 mutations and activation of the proto-oncogenes c-Maf through the t(14;16) and C-myc, as well as activation of the anti-apoptosis genes bcl-2 and Mcl1 all result in improved survival advantages for abnormal myeloma cells. ...
Olecular characterization of MAR, a multiple aberration area on human chromosome segment 12q13q15 implicated in a variety of strong tumors. Genes Chromosomes
Six cases of partial duplication-deficiency 21 syndrome: 21(dupq22delp23) due to maternal pericentric inversion: inv(21)(p12;q22). A family study.: Six probands
42 NCCN Guidelines for Patients ® : Myelodysplastic Syndromes, 2018 5 Treatment guide Lower-risk MDS with anemia Lower-risk MDS with anemia Guide 5. Initial treatment for lower-risk MDS with anemia Test results Treatment options del(5q) ± one other chromosome change ª • Lenalidomide No del(5q) ± other chromosome changes, and Serum EPO ≤500 mU/mL ª • Epoetin alfa ± G-CSF, or • Darbepoetin alfa ± G-CSF No del(5q) ± other chromosome changes, and Serum EPO ,500 mU/mL ª If likely to respond to IST: • ATG (equine) + cyclosporine If not likely to respond to IST: • Azacitidine • Decitabine • Consider lenalidomide • Clinical trial Guide 5 shows the treatment options for patients with lower-risk MDS and anemia that is causing symptoms. The options differ based on the types of chromosome changes in the MDS cells and the level of EPO in your blood. One key chromosome change is when MDS cells are missing part of chromosome 5. This change is called del(5q). The amount of natural EPO ...
The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013 ...
Serial chromosome studies were performed on four monocytic cell lines established from bone marrow samples of patients suffering from hematopoietic disorde
Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. Further, the shape of the relationship between age and translocation frequency (TF) has not been definitively determined. We collected existing data from 16 laboratorie
Cromosoma 3 (es); Humán 3-as kromoszóma (hu); 3-я хромосома человека (ru); cromosom dynol 3 (cy); کروموزوم ۳ (fa); Хромозома 3 (bg); kromosom 3 (da); cromozomul uman 3 (ro); 3號染色體 (zh-hk); mänsklig kromosom 3 (sv); Хромосома 3 (uk); Chromosoma 3 (la); 3号染色体 (zh-cn); 3번 염색체 (ko); homa kromosomo 3 (eo); Трет човечки хромозом (mk); Hromosom 3 (bs); cromosoma 3 (it); ৩ নং ক্রোমোজোম (bn); chromosome 3 humain (fr); Kromosom 3 (čovjek) (hr); Kromozom 3 (tr); 3-րդ քրոմոսոմ (hy); cromossoma 3 (pt); 3番染色体 (ヒト) (ja); human chromosome 3 (en); Hromozom 3 (sh); хромозом 3 (sr); Chromosom 3 (de); Kromosomang 3 (tl); chromozom 3 (cs); 3. kromosoom (et); chromosom 3 (pl); humant kromosom 3 (nn); kromosom 3 (nb); Chromosoom 3 (nl); Cromosoma 3 (ca); 3 hō jiám-sek-thé (nan); Kromosomi 3 (fi); כרומוזום 3 (he); Cromosoma 3 (gl); صبغي 3 (ar); ...
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 - 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 ...
This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016 ...
Olecular characterization of MAR, a many aberration area on human chromosome segment 12q13q15 implicated in many strong tumors. Genes Vasopressin site
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 human and chimpanzee genomes are distinguishable in terms of ten gross karyotypic differences including nine pericentric inversions and a chromosomal fusion. Seven of these large pericentric inversions are chimpanzee-specific whereas two of them, involving human chromosomes 1 and 18, were fixed in the human lineage after the divergence of humans and chimpanzees. We have performed detailed molecular and computational characterization of the breakpoint regions of the human-specific inversion of chromosome 1. FISH analysis and sequence comparisons together revealed that the pericentromeric region of HSA 1 contains numerous segmental duplications that display a high degree of sequence similarity between both chromosomal arms. Detailed analysis of these regions has allowed us to refine the p-arm breakpoint region to a 154.2 kb interval at 1p11.2 and the q-arm breakpoint region to a 562.6 kb interval at 1q21.1. Both breakpoint regions contain human-specific segmental duplications arranged in ...
Lucas diagnosis of Partial Trisomy 13 (PT13) is extremely rare! While the typical human has two chromosomes, an individual with a chromosomal disorder has an extra chromosome (full or partial) present. With Trisomy 13, this extra chromosome causes severe intellectual disability and physical problems. There are 4 variations of Trisomy 13: Full Trisomy 13 -…
Chromosome 9 inversion is when there are two breaks on chromosome 9. The segment between the breakpoints flips around and reinserts back into the same place on chromosome 9. If both breaks occur in the same arm of the chromosome, this is called a paracentric inversion. If one break occurs in the short arm and the other in the long arm of the chromosome, then this is called a pericentric inversion. Chromosome 9 inversions commonly occur as a pericentric inversion ...
Now, Rockefeller University scientists have discovered that the same enzyme that enables the immune systems defensive creativity is also responsible for a particular genetic malfunction - a translocation of one piece of DNA to the wrong chromosome - that causes Burkitts lymphoma. The findings, to be published in the December 12 edition of Cell, suggest the enzyme, called activation-induced deaminase (AID), is probably involved in a broader range of cancers as well.. We strongly suspect that many or all of the translocations of human lymphomas in mature B cells are the product of this enzyme, says Michel C. Nussenzweig, Sherman Fairchild Professor and head of the Laboratory of Molecular Immunology. And theres more and more data to show that it may be involved in other cancers as well. Its been identified in stomach cancers, for instance.. A very specific translocation causes Burkitts lymphoma, a cancer that plagues children in equatorial Africa. It involves a DNA break in an immune ...
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013 ...
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. ...
Treatment for ALL is based on your age, chromosome changes, the subtype of ALL and your overall health. Learn about treatments for acute lymphocytic leukemia.
For the very first time, a team of researchers has been able to map and follow the movements of human chromosomes. This study could lead to more answers on how to prevent diseases such as leukemia, Parkinsons, and even infertility.
The following pages link to Template:Human chromosomes: Displayed 59 items. View (previous 250 , next 250) (20 , 50 , 100 , 250 , 500) ...
Chromosome studies may be performed when a child is born with multiple birth defects. They may also be done when people have certain types of leukemias and lymphomas, to look for specific chromosome rearrangements associated with these types of cancers. Direct DNA studies look directly at the gene in question for an error....more ...
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)
The Rock Krawler Wrangler X Factor Long Arm Suspension System design dominates the professional world of rock crawling while still maintaining perfect drivabili
The Rock Krawler Wrangler X Factor Long Arm Suspension System design dominates the professional world of rock crawling while still maintaining perfect drivabili
T-cell growth factor (TCGF) or interleukin-2 (IL-2), an immunoregulatory lymphokine, is produced by lectin- or antigen-activated mature T lymphocytes and in a constitutive manner by certain T-cell lymphoma cell lines. By means of a molecular clone of human TCGF and DNA extracted from a panel of somatic cell hybrids (rodent cells X normal human lymphocytes), the TCGF structural gene was identified on human chromosome 4. In situ hybridization of the TCGF clone to human chromosomes resulted in significant labeling of the midportion of the long arm of chromosome 4, indicating that the TCGF gene was located at band q26-28. Genomic DNA from a panel of hybrids prepared with HUT-102 B2 cells was examined with the same molecular clone. In this clone of cells, which produces human T-cell leukemia virus, the TCGF gene was also located on chromosome 4 and was apparently not rearranged. The homologous TCGF locus in the domestic cat was assigned to chromosome B1 by using a somatic cell hybrid panel that ...
The gene IL-3 encodes interleukin 3, a hematopoietic colony-stimulating factor (CSF) that is capable of supporting the proliferation of a broad range of hematopoietic cell types. By using somatic cell hybrids and in situ chromosomal hybridization, we localized this gene to human chromosome 5 at bands q23-31, a chromosomal region that is frequently deleted [del(5q)] in patients with myeloid disorders. By in situ hybridization, IL-3 was found to be deleted in the 5q-chromosome of one patient with refractory anemia who had a del(5)(q15q33.3), of three patients with refractory anemia (two patients) or acute nonlymphocytic leukemia (ANLL) de novo who had a similar distal breakpoint [del(5)(q13q33.3)], and of a fifth patient, with therapy-related ANLL, who had a similar distal breakpoint in band q33 [del(5)(q14q33.3)]. Southern blot analysis of somatic cell hybrids retaining the normal or the deleted chromosome 5 from two patients with the refractory anemia 5q- syndrome indicated that IL-3 sequences were
We have used recombinant clones derived from microdissection of the fragile X region to characterize breakpoints around the fragile site at Xq27.3. So far, no microdissection markers derived from Xq28 material have been found, thus allowing a rapid screening for clones surrounding the fragile site by their presence in a somatic cell hybrid containing Xq27.2-Xqter. A total of 43 new DNA markers from Xq27 have been sublocalized within this chromosome band. Of these new DNA markers, 5 lie in an interval defined as containing the fragile X region. The saturation of Xq27 with DNA markers by microdissection demonstrates the power of this technique and provides the resources for generating a complete physical map of the region.
View Notes - Lecture03-S11 from BIS 101 at UC Davis. DNA is packaged into chromatin Nucleosome Human Chromosomes (short arm) (long arm) Chromosome Terminology Sister Chromatids Genes (The metaphase
X-linked gene expression in somatic cell hybrids before and after expression of XIST/Xist.(A-C) Shows the XIST/Xist expression in cell nuclei using RNA FISH p
In the Jan. 1, 2001, issue of Genomics, the researchers report that a particular gene called PEG3, or paternally expressed gene 3, is imprinted in humans, just as it is in mice. Mouse studies have shown that only the copy of PEG3 that is inherited from the father is functional, and the Duke researchers now have confirmed that is true in humans as well.. Just because you have an imprinted gene in the mouse doesnt mean its going to be imprinted in humans, said principal investigator Randy Jirtle, professor of radiation oncology and member at the Duke Comprehensive Cancer Center. This is also the first evidence of imprinting on human chromosome 19.. Imprinted genes usually occur in clusters, so the researchers are now looking for other imprinted genes in the region of chromosome 19 near PEG3, said Dukes Susan Murphy, lead author of the study, which was funded by the National Institutes of Health. To date, about 40 imprinted genes have been identified in humans, primarily on regions of ...
Oracle Health Sciences Omics Data Bank - Version 3.0.1 and laterUnable to Extract Variant into VCF File for a Specific Chromosome Position
Qing K, Ruppert K, Jiang Y, Mata JF, Miller GW, Shim YM, Wang C, Ruset IC, Hersman FW, Altes TA, Mugler JP 3rd. : Regional mapping of gas uptake by blood and tissue in the human lung using hyperpolarized xenon-129 MRI. J Magn Reson Imaging. 39(2): 346-59, February 2014 ...
March is trisomy awareness month, and although many of us never shut up about how amazing our kids are, this month is particularly helpful for highlighting just how far our children and attitudes have come, and still need to go. A chromosomal trisomy is when you have three copies of a specific chromosome instead of…
Schäfer BW، Wicki R، Engelkamp D، Mattei MG، Heizmann CW (1995). Isolation of a YAC clone covering a cluster of nine S100 genes on human chromosome 1q21: rationale for a new nomenclature of the S100 calcium-binding protein family. Genomics. 25 (3): 638-43. PMID 7759097. doi:10.1016/0888-7543(95)80005-7. ...
This workflow retrieves all genes on human chromosome 22 that are associated with a disease and aligns the upstream regions with mouse and rat homologues. The alignments are plotted and corresponding sequence ids are also returned ...
First we met with the genetic counselor, who was actually quite nice and very not-scary and she took our family histories for bad DNA, explained the amnio again and then offered us the opportunity to participate in two different studies. One will use our chromosomes to help determine if they can link specific chromosome abnormality to diseases (outside of the big ones they already know about). Theyre talking about super super small defects or irregularities that have to be seen with the microscope. Of course, Id be a dick if I said NO to that - it could provide SERIOUS help to people in the future ...
Homeobox protein Hox-A9 is a protein that in humans is encoded by the HOXA9 gene. In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is highly similar to the abdominal-B (Abd-B) gene of Drosophila fly. A specific translocation event which causes a fusion between this gene and the NUP98 gene has been associated with myeloid leukemogenesis. As HOXA9 dysfunction has been implicated in acute myeloid leukemia, and expression of the gene has been shown to differ markedly between erythrocyte lineages of different stages of development, the gene is of particular interest from a hematopoietic perspective. As HOXA9 is ...
Correspondence: [email protected] Follicular lymphoma (FL) is the second most common type of non-Hodgkin lymphoma (NHL) in Western Countries, accounting for 20% of all NHL and for 70% of all indolent forms, with a median age at diagnosis of about 60 years [1-3]. Before the advent of chemotherapy, the majority of patients with FL died within 5 years. With the current therapies, the expected median survival is approximately 8-10 years [4]. About 85% of FL cases have a specific translocation t(14;18) that leads to the overexpression of the BCL2 protein, a member of a family of anti-apoptotic proteins, although other genetic alterations may be detected in this subtype of lymphoma. As defined by the WHO, FLs are characterized by a follicular growth pattern including centrocytes (small- to medium-sized cells) and centroblasts (large cells), and are graded from I to III according to the amount of centroblasts present. The clinical aggressiveness of the tumor increases with an increasing numbers of ...
Do You Have Chromosome Abnormality Disorders? Join friendly people sharing true stories in the I Have Chromosome Abnormality Disorders group. Find support forums, advice and chat with groups who share this life experience. Chromosome Abnormality Diso...
Chromosome studies. Chromosomes are the threadlike structures of DNA in every cell in our bodies that contain our genes. Cytogenetics is a word used to describe the study of chromosomes. The chromosomes need to be stained in order to see them with a microscope. When stained, the chromosomes look like strings with light and dark bands. A picture (an actual photograph from one cell) of all 46 chromosomes, in their pairs, is called a karyotype. A normal female karyotype is written 46, XX, and a normal male karyotype is written 46, XY. The standard analysis of the chromosomal material evaluates both the number and structure of the chromosomes, with an accuracy of over 99.9 percent. Chromosome analyses are usually performed using a blood sample, prenatal specimen, skin biopsy, or other tissue sample. Chromosomes are analyzed by specially trained healthcare personnel that have advanced degrees in cytogenetic technology and genetics. Chromosome studies may be performed when a child is born with ...
If youre interested in human population genetics, check out this article about a Y chromosome study of British males which suggests most of them can trace their ancestry back to Neolithic farmers who began migrating in successive waves from the Middle East to Europe about 10,000 years ago (8,000 years BCE), finally arriving in the British Isles…
An extra chromosome also called trisomy can cause a wide range of developmental disorders. Learn about trisomy conditions in babies.
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] ...
Hospital records and other data relating to Wilmss tumour were analysed to elucidate both thenatural history of the disease and the effects of treatment, with special reference to actinomycin D. The age of maximum incidence was about 18 months; left-sided tumours were significantly more common than right-sided ones.. Prognosis was related to stage of the disease at the initial operation and to the occurrence of metastasis. The three-year survival rate for cases having a nephrectomy was 35%; no child who did not have a nephrectomy survived.. Recurrence of the tumour was observed in two-thirds of the cases, almost always within two years of the initial treatment, irrespective of the childs age. The three-year survival rate for this group was 11%.. The effects of radiotherapy and chemotherapy are considered in detail. Very little improvement in survival rate could be ascribed to actinomycin D. The reasons for this and for the variations found in earlier reports on selected cases are possibly the ...
Prognostic factors for acute lymphocytic leukemia (ALL) include chromosome changes, classification and your age. Learn about prognostic factors for ALL.
I recently suffered a miscarriage. Genetic studies were done indicating that an extra chromosome was present on the #22 chromosome. What does this chromosome determine ...
Regional Mapping of Soil Conditions in Northern Alaska Permafrost Landscape Using AirMOSS and Land Model Data Assimilation, and Associated Impacts on Terrestrial Carbon ...
Chromosome Analysis Blood testing in Southlake, Texas. Find a lab near you and save when you get blood work directly through Personalabs!
Chromosome Analysis Blood testing in Texas City, Texas. Find a lab near you and save when you get blood work directly through Personalabs!
This workflow retrieves all genes on human chromosome 22 that are associated with a disease and aligns the upstream regions with mouse and rat homologues. The alignments are plotted and corresponding sequence ids are also returned. Using Biomart and EMBOSS soaplab services, This workflow retrieves a number of sequences from 3 species: mouse, human, rat; align them, and returns a plot of the alignment result. Corresponding sequence ids are also returned ...
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 ...
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Hybridomas are immortalized cells derived from the fusion of B lymphoblasts with a myeloma fusion partner. Some hybridomas in the ATCC collection are somatic cell hybrids. These cells are capable of producing immunoglobulins that are specific for viral, bacterial or cellular targets.
(1911-1993) British surgeon Born in Enniskillen, now in Northern Ireland, Burkitt attended Dublin University, receiving his BA in 1933 and MB in 1935. Having become a fellow of Edinburgh s Royal College of Surgeons in 1938, Burkitt served in the…
When I open the envelope containing a notice from the Diocese of Oakland that my EX of several years has petitioned for a Declaration of Invalidity, my first reaction is to laugh and toss the paperwork into the recycling bin. But the words toll like solemn bells throughout the day. Ecclesitasticum, Ajudication, Decree of Constitution. In the grip of the language as I had been some twenty years ago when I made the mistake of converting to Catholicism, I retrieve the paperwork.. Read more →. ...
Zinc finger Y-chromosomal protein is a protein that in humans is encoded by the ZFY gene of the Y chromosome. This gene encodes ... Müller G, Schempp W (April 1989). "Mapping the human ZFX locus to Xp21.3 by in situ hybridization". Human Genetics. 82 (1): 82- ... In mice, Zfy genes are necessary for meiotic sex chromosome inactivation (MSCI). In Zfy knockout spermatocytes, sex chromosomes ... "The sex-determining region of the human Y chromosome encodes a finger protein". Cell. 51 (6): 1091-104. doi:10.1016/0092-8674( ...
"Chromosomes, Chromosome Anomalies". *Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. ... A chromosome is metacentric if its two arms are roughly equal in length. In a normal human karyotype, five chromosomes are ... Humans do not possess telocentric chromosomes. If the chromosome's centromere is located closer to its end than to its center, ... A dicentric chromosome is an abnormal chromosome with two centromeres. It is formed through the fusion of two chromosome ...
Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. ... and found an increased rate of minor criminal convictions for property crimes among sixteen XXY and twelve XYY men may be ... In the wake of the establishment of the normal number of human chromosomes, 47,XYY was the last of the common sex chromosome ... This tall (that chromosome), intelligent (that chromosome again), functionally nonviolent (that chromosome still again) fellow ...
"Cloning and chromosome mapping of human and chicken Iroquois (IRX) genes". Cytogenet. Cell Genet. 92 (3-4): 320-5. doi:10.1159/ ... Iroquois-class homeodomain protein IRX-2, also known as Iroquois homeobox protein 2, is a protein that in humans is encoded by ... 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 1999). "Regulated expression patterns of IRX-2, an Iroquois-class homeobox gene, in the human breast". Cell Tissue Res. 296 (3 ...
ELKS/RAB6-interacting/CAST family member 1 is a protein that in humans is encoded by the ERC1 gene. The name ELKS is derived ... Genes Chromosomes Cancer. 25 (2): 97-103. doi:10.1002/(SICI)1098-2264(199906)25:2. 3.0.CO;2-L. PMID 10337992. Kikuno R, Nagase ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ... 1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from ...
Madani N, Kabat D (Dec 1998). "An endogenous inhibitor of human immunodeficiency virus in human lymphocytes is overcome by the ... Pseudogenes have been identified on chromosomes 2 and 12. The gene has 6 exons and locates at chromosome band 17q12. The human ... Proteasome subunit beta type-3, also known as 20S proteasome subunit beta-3, is a protein that in humans is encoded by the ... Sheehy AM, Gaddis NC, Choi JD, Malim MH (Aug 2002). "Isolation of a human gene that inhibits HIV-1 infection and is suppressed ...
Chromosome 1 open reading frame 38 is a protein that in humans is encoded by the C1orf38 gene. The gene is also known as ICB-1 ... "Chromosome 1 open reading frame 38". Retrieved 2011-12-07. Springwald, A.; Lattrich, C.; Seitz, S.; Ortmann, O.; Treeck, O. ( ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ... "Icb-1Gene Expression is Elevated in Human Endometrial Adenocarcinoma and is Closely Associated with HER2 Expression". Cancer ...
These mutations involve chromosome translocations which fuse the ETV6 on chromosome 12's the short (i.e. "p") arm ("q" stands ... The human ETV6 gene is located at position "13.2" on the short (i.e. "p") arm of chromosome 12, i.e. its notated position is ... "IGH immunoglobulin heavy locus (human )". Entrez Gene. "TTL tubulin tyrosine ligase (human)". Entrez Gene. "CHIC2 cysteine rich ... The human ETV6 protein is a member of the ETS transcription factor family; however, it more often acts to inhibit than ...
December 2006). "DNA methylation profiling of human chromosomes 6, 20 and 22". Nature Genetics. 38 (12): 1378-85. doi:10.1038/ ...
Immigration has been a very important demographic factor in the composition, structure and history of human population in ... Carvalho-Silva, DR; Santos, FR; Rocha, J; Pena, SD (January 2001). "The Phylogeography of Brazilian Y-Chromosome Lineages". ... Officially, amnesty intends to cut down on illegal activity and human rights violations, particularly with Bolivians in São ... American Journal of Human Genetics. 68 (1): 281-6. doi:10.1086/316931. PMC 1234928. PMID 11090340. Digital, CacauLimão ...
Drosophila flies have both X and Y chromosomes, as well as autosomes. Unlike humans, the Y chromosome does not confer maleness ... Similarity to humans[edit]. A March 2000 study by National Human Genome Research Institute comparing the fruit fly and human ... not because of the presence of a Y chromosome as in human sex determination. Although the Y chromosome is entirely ... The mature larva has giant chromosomes in the salivary glands called polytene chromosomes, "puffs", which indicate regions of ...
1999). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from ... 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. doi:10.1038/990031. PMID 10591208. Strausberg RL ... MORC family CW-type zinc finger protein 2 is a protein that in humans is encoded by the MORC2 gene. GRCh38: Ensembl release 89 ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
1999). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from ... 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. doi:10.1038/990031. PMID 10591208. Nagase T, ... 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): ... 2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci ...
2003). "A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q". Am. J. Hum. ... 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. doi:10.1038/990031. PMID 10591208. Bonaldo MF, ... on human chromosome 22 in the region q11.2→q13.1". Cytogenet. Cell Genet. 61 (3): 180-3. doi:10.1159/000133403. PMID 1424806. v ... Beta-crystallin A4 is a protein that in humans is encoded by the CRYBA4 gene. Crystallins are separated into two classes: taxon ...
... and also increased sex chromosome disomy by 1.7-fold and chromosome 18 disomy by 2.2-fold. Humans are exposed to perfluorinated ... Exposure to fenvalerate raised sex chromosome disomy 1.9-fold and disomy of chromosome 18 by 2.6-fold (Xia et al., 2004). ... Shi Q, Ko E, Barclay L, Hoang T, Rademaker A, Martin R (2001). "Cigarette smoking and aneuploidy in human sperm". Mol. Reprod. ... An aneugen is a substance that causes a daughter cell to have an abnormal number of chromosomes or aneuploidy. A substance's ...
Modern humans first arrived in Great Britain during the Palaeolithic era, but until the invasion of the Romans (1st century BC ... A Y Chromosome Census of the British Isles; Cristian Capelli, Nicola Redhead, Julia K. Abernethy, Fiona Gratrix, James F. ... In these areas, about 60% of Y chromosomes are of Germanic origin. This indicates an exclusively male component. The extent of ... From Genetic analysis section, Sub-Roman Britain Modern genetic evidence, based on analysis of the Y chromosomes of men ...
Syria: End persecution of human rights defenders and human rights activists Archived 13 October 2007 at the Wayback Machine. " ... Nebel A, Filon D, Brinkmann B, Majumder PP, Faerman M, Oppenheim A (November 2001). "The Y Chromosome Pool of Jews as Part of ... "Essential Background: Overview of human rights issues in Syria". Human Rights Watch, 31 December 2004. Syria's Kurds Struggle ... Kurdish human rights activists are mistreated and persecuted. No political parties are allowed for any group, Kurdish or ...
The Human Protein Atlas. Retrieved 28 February 2014. Thompson DA, Weigel RJ (October 1998). "hAG-2, the human homologue of the ... Agr2 is located on chromosome 7p21, a region that has frequent genetic alterations. It was first identified in estrogen ... Galligan JJ, Petersen DR (July 2012). "The human protein disulfide isomerase gene family". Human Genomics. 6 (1): 6. doi: ... Human AGR2 genome location and AGR2 gene details page in the UCSC Genome Browser. Zhang JS, Gong A, Cheville JC, Smith DI, ...
... and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1". Genomics. 12 (2): 190-6. doi:10.1016/0888-7543(92)90365-Y. PMID ... "Localization of Shaw-related K+ channel genes on mouse and human chromosomes". Mamm. Genome. 4 (12): 711-5. doi:10.1007/ ... Potassium voltage-gated channel, Shaw-related subfamily, member 3 also known as KCNC3 or Kv3.3 is a protein that in humans is ... "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "Mouse PubMed ...
2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369-74. doi:10.1038/nature02465. PMC 2734081. ... "Mapping of the shortest region of overlap of deletions of the short arm of chromosome 9 associated with human neoplasia". ... 1984). "Nucleotide sequence and expression in E. coli of a human interferon-alpha gene selected from a genomic library using ... Interferon alpha-4 is a protein that in humans is encoded by the IFNA4 gene. GRCh38: Ensembl release 89: ENSG00000236637 - ...
2006). "The finished DNA sequence of human chromosome 12". Nature. 440 (7082): 346-51. doi:10.1038/nature04569. PMID 16541075. ... OR6C3+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) This article incorporates text from ... Olfactory receptor 6C3 is a protein that in humans is encoded by the OR6C3 gene. Olfactory receptors interact with odorant ... Olfactory receptor GRCh38: Ensembl release 89: ENSG00000205329 - Ensembl, May 2017 "Human PubMed Reference:". National Center ...
2006). "The finished DNA sequence of human chromosome 12". Nature. 440 (7082): 346-51. doi:10.1038/nature04569. PMID 16541075. ... Human LCA10 genome location and LCA10 gene details page in the UCSC Genome Browser. Bonaldo MF, Lennon G, Soares MB (1997). " ... Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of ... GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome Human CEP290 genome location and CEP290 gene details page in the UCSC ...
"Isolation and regional assignment of human chromosome 12p cDNAs". Genomics. 29 (1): 44-52. doi:10.1006/geno.1995.1213. PMID ... Bicaudal D cargo adaptor 1 is a protein that in humans is encoded by the BICD1 gene. This gene is one of two human homologs of ... Human BICD1 genome location and BICD1 gene details page in the UCSC Genome Browser. Barr FA, Short B (Aug 2003). "Golgins in ... Baens M, Marynen P (Nov 1997). "A human homologue (BICD1) of the Drosophila bicaudal-D gene". Genomics. 45 (3): 601-6. doi: ...
In humans, and some other animals, defects in the TBX5 gene expression are responsible for Holt-Oram syndrome, which is ... and assignment to chromosome 6q27". Genome Research. 6 (3): 226-33. doi:10.1101/gr.6.3.226. PMID 8963900. Scholz CB, Technau U ... "Entrez Gene: T". Edwards YH, Putt W, Lekoape KM, Stott D, Fox M, Hopkinson DA, Sowden J (March 1996). "The human homolog T of ... TBX3 is associated with ulnar-mammary syndrome in humans, but is also responsible for the presence or absence of dun color in ...
High-resolution analysis of human Y-chromosome variation shows a sharp discontinuity and limited gene flow between northwestern ... Y Chromosomes Reveals Multiple Migratory Events Within and Out of Africa". The American Journal of Human Genetics. 74 (5): 1014 ... "Y-chromosome Lineages from Portugal, Madeira and Acores Record Elements of Sephardim and Berber Ancestry". Annals of Human ... Anatomically modern humans are known to have been present in North Africa during the Middle Paleolithic (300,000 years ago), as ...
"Mapping of the NEP receptor tyrosine kinase gene to human chromosome 6p21.3 and mouse chromosome 17C". Genomics. 25 (1): 309-11 ... gene to chromosome 6p21". Human Genetics. 98 (1): 12-5. doi:10.1007/s004390050152. PMID 8682498. S2CID 9450185. Playford MP, ... This gene is located on chromosome 6p21.3 in proximity to several HLA class I genes. Alternative splicing of this gene results ... Discoidin domain receptor family, member 1, also known as DDR1 or CD167a (cluster of differentiation 167a), is a human gene. ...
"Entrez Gene: T". Edwards YH, Putt W, Lekoape KM, Stott D, Fox M, Hopkinson DA, Sowden J (March 1996). "The human homolog T of ... the mouse T(Brachyury) gene; gene structure, cDNA sequence, and assignment to chromosome 6q27". Genome Research. 6 (3): 226-33 ... Brachyury (from Greek βραχύς, "short" and ουρά, "tail") is a protein that, in humans, is encoded by the TBXT (T-box ... In 2018 HGNC updated the human gene name from T to TBXT, presumably to overcome difficulties associated with searching for a ...
2006). "The finished DNA sequence of human chromosome 12". Nature. 440 (7082): 346-51. doi:10.1038/nature04569. PMID 16541075. ... Human CLEC2B genome location and CLEC2B gene details page in the UCSC Genome Browser. Strausberg RL, Feingold EA, Grouse LH, et ... C-type lectin domain family 1 member B is a protein that in humans is encoded by the CLEC1B gene. Natural killer (NK) cells ... "Entrez Gene: CLEC1B C-type lectin domain family 1, member B". Human CLEC1B genome location and CLEC1B gene details page in the ...
"Specific staining of human chromosomes in Chinese hamster x man hybrid cell lines demonstrates interphase chromosome ... to form chromosomes. The genes within these chromosomes are structured in such a way to promote cell function. The nucleus ... Each human cell contains roughly two meters of DNA. During most of the cell cycle these are organized in a DNA-protein complex ... The daughter chromosomes then migrate to opposite poles of the mitotic spindle, and new nuclei reassemble around them. At a ...
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 ... Juan Cole, Marsh Arab Rebellion, University of Indiana, 2005, p.12 *^ Robert Fisk, The Great War for Civilisation, Harper, ... The marsh environment meant that certain diseases, such as schistosomiasis and malaria, were endemic;[12] Maʻdānī agriculture ...
... and regional assignment of the human follicle-stimulating hormone beta-subunit gene to the short arm of human chromosome 11". ... 1989). "Expression of biologically active human follitropin in Chinese hamster ovary cells". J. Biol. Chem. 264 (9): 4769-75. ... 1999). "Characterization of single-nucleotide polymorphisms in coding regions of human genes". Nat. Genet. 22 (3): 231-8. PMID ... Fox KM، Dias JA، Van Roey P (2001). "Three-dimensional structure of human follicle-stimulating hormone". Mol. Endocrinol. 15 (3 ...
The institute is also the first develop a test to detect chromosome translocations in human embryos to increase the success ... Human cloning is a long way off, but bioengineered kids are already here, Washington Monthly, March 2002 - accessed July 11, ... Retrieved May 12, 2016. NJ.com. " Mega-hospital merger in N.J. completed", NJ Advance Media for NJ.com , Trenton, 14 July 2015 ... 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 ... 6]. Tri-dimenzionalna kristalna struktura ovog hemokina je bila utvrđena u 3 različite grupe uslova u rezoluciji do 1.92 A.[7] ...
It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA).[21] ... creating daughter cpDNA chromosomes. In addition to the early ... 59 (6): 1120-1127. doi:10.1093/pcp/pcy084. PMID 29860378.. *^ a b c Dann L (2002). Bioscience-Explained (PDF). Green DNA: ... "Circular chloroplast chromosomes: the grand illusion". The Plant Cell. 16 (7): 1661-6. doi:10.1105/tpc.160771. PMC 514151 ...
They argue that this is an issue with respect to the human right to water and sanitation and also from the perspective of the ... chromosomes and anatomy' at birth.[32] ... "Public Hygiene Lets Us Stay Human (PHLUSH). Retrieved June 22, ... The Human Rights Campaign, an LGBTQ advocacy group, recommends that employers grant access, and use, to public toilets ... Human Rights Campaign. "Restroom Access for Transgender Employees." Retrieved from "Restroom Access for Transgender Employees" ...
One research team found a correlation in male fruit flies and discussed it as a possibility in other species, even humans.[35] ... chromosome localization, and functional expression of cDNA clones". Biochemistry. 30 (44): 10640-6. doi:10.1021/bi00108a006. ... Palma C, Maggi CA (2000). "The role of tachykinins via NK1 receptors in progression of human gliomas". Life Sciences. 67 (9): ... Gerard NP, Garraway LA, Eddy RL, Shows TB, Iijima H, Paquet JL, Gerard C (Nov 1991). "Human substance P receptor (NK-1): ...
This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it. *v ... Apolipoprotein C-IV, also known as apolipoprotein C4, is a protein that in humans is encoded by the APOC4 gene.[5][6] ... Human APOC4 genome location and APOC4 gene details page in the UCSC Genome Browser. ... 2002). "Regulated expression of the apolipoprotein E/C-I/C-IV/C-II gene cluster in murine and human macrophages. A critical ...
When a human is conceived, it gets 23 chromosomes from its mother and 23 from its father. If it does not get the right number ... According to data collected in the United States, 88.2% of abortions were done in the first twelve weeks of pregnancy, 10.4% ... For example, Down syndrome happens when there are three copies of chromosome #21. (Usually people have 2 of every chromosome.) ... This developing human is called an embryo for the first eight weeks of the pregnancy, and fetus for the rest of the pregnancy. ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... PAX8+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) ...
"Is the human race evolving or devolving?". Scientific American. From a biological perspective, there is no such thing as ... 6 (3): 303-324. doi:10.1007/BF00132234.. *^ Ayala, F. J. (2007). "Darwin's greatest discovery: design without designer". PNAS. ... 24 (12): 1085-94. doi:10.1002/bies.10192. PMID 12447974.. *^ Waldrop, M.; et al. (2008). "Language: Disputed definitions". ... If evolution possessed an active trend toward complexity (orthogenesis), as was widely believed in the 19th century,[12] then ...
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 ... Häggström, Mikael; Richfield, David (2014). "Diagram of the pathways of human steroidogenesis". WikiJournal of Medicine. 1 (1 ... A minor population of nonepithelial cells appear between the tubules by week 8 of human fetal development. These are Leydig ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... The haplotype begins before the TRIM27 locus approximately 28.8 million nucleotides from the telomere of chromosome 6's shorter ... 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 ...
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, ...
It is encoded in humans by the SERPINA1 gene. A protease inhibitor, it is also known as alpha1-proteinase inhibitor (A1PI) or ... Another name used is alpha-1 proteinase inhibitor (α1-PI). The gene is located on the long arm of the fourteenth chromosome ( ... The US FDA has approved the use of four alpha-1 antitrypsin products derived from a human plasma: Prolastin, Zemaira, Glassia, ... All three products showed minor differences compared to the normal human plasma A1AT, and are introduced during the specific ...
"American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
Deletion in the 22q11.2 region of chromosome 22 has been associated with schizophrenia and autism.[22][23] Schizophrenia and ... An example of pleiotropy is phenylketonuria, an inherited disorder that affects the level of phenylalanine in the human body. ... The disease is caused by a defect in a single gene on chromosome 12 that codes for enzyme phenylalanine hydroxylase , that ... Pleiotropy not only affects humans, but also animals, such as chickens and laboratory house mice, where the mice have the "mini ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ... Probes that hybridize along an entire chromosome are used to count the number of a certain chromosome, show translocations, or ...
"The 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. ... "Human immunosenescence: the prevailing of innate immunity, the failing of clonotypic immunity, and the filling of immunological ... "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 ...
It has long been suspected as a causative agent in Crohn's disease in humans,[4][5] but studies have been unable to show ... The genome of MAP strain K-10 was sequenced in 2005 and found to consist of a single circular chromosome of 4,829,781 base ... Recent studies have shown that MAP present in milk can survive pasteurization, which has raised human health concerns due to ... It is the causative agent of Johne's disease, which affects ruminants such as cattle, and suspected causative agent in human ...
... submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome ... "Chromosomes, Human, 6-12 and X" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... This graph shows the total number of publications written about "Chromosomes, Human, 6-12 and X" by people in Harvard Catalyst ... Below are the most recent publications written about "Chromosomes, Human, 6-12 and X" by people in Profiles. ...
A human artificial chromosome (HAC) is a microchromosome that can act as a new chromosome in a population of human cells. That ... 21HAC is based on a stripped copy of human chromosome 21, producing a chromosome 5 Mb in length. Truncation of chromosome 21 ... Yeast artificial chromosomes and bacterial artificial chromosomes were created before human artificial chromosomes, which were ... "A new chromosome 14-based human artificial chromosome (HAC) vector system for efficient transgene expression in human primary ...
So, the human Y chromosome looks just as different from a chimp as the other human chromosomes do from a chicken. And to ... the human and chimp Y chromosomes were constructed entirely differently. On the human Y chromosome, there were found four major ... male-specific Y chromosome].1 As far as looking at specific genes, the chimp and human Y chromosomes had a dramatic difference ... New Chromosome Research Undermines Human-Chimp Similarity Claims. Institution for Creation Research ^ , Apr 1, 2010 , Jeffrey ...
So, the human Y chromosome looks just as different from a chimp as the other human chromosomes do from a chicken. And to ... the human and chimp Y chromosomes were constructed entirely differently. On the human Y chromosome, there were found four major ... Human-Chimp Genetic Similarity: Is the Evolutionary Dogma Valid? * New Human-Chimp Chromosome 2 Data Challenge Common Ancestry ... within the chimpanzee Y chromosome had less than 10 percent similarity with the same class in the human Y chromosome, and vice ...
Gilbert F, Kauff N (2000). "Disease genes and chromosomes: disease maps of the human genome.Chromosome 12". Genet Test. 4 (3): ... Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 12: entries, gene ... The following is a partial list of genes on human chromosome 12. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 12. Because researchers use different approaches to ...
1 This supposedly explains the difference in chromosome numbers between humans and great apes-humans have 46 chromosomes, while ... Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions. ... "chromosome 2 fusion." This story proposes that in a common ancestor shared by humans and chimps, two small chromosomes somehow ... The chromosome 2 fusion model of human evolution-part 2: re-analysis of the genomic data. Journal of Creation. 25 (2): 111-117. ...
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/ ...
... production of beta-globin locus YAC mice carrying human globin developmental mutants. K R Peterson, Q L Li, C H Clegg, T ... To test whether yeast artificial chromosomes (YACs) can be used in the investigation of mammalian development, we analyzed the ... Use of yeast artificial chromosomes (YACs) in studies of mammalian development: production of beta-globin locus YAC mice ... Use of yeast artificial chromosomes (YACs) in studies of mammalian development: production of beta-globin locus YAC mice ...
A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3. P S White, J M Maris, C Beltinger, E ... Deletion of the short arm of human chromosome 1 is the most common cytogenetic abnormality observed in neuroblastoma. To ... A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3 ... A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3 ...
Examples of binary mosaics of long nucleotide sequences are shown, including cases of human chromosomes and penicillins. The ... What kinds of binary mosaics are generated by means of the described method for all 23 pairs of human chromosomes, the data for ... Examples of binary mosaics of long nucleotide sequences are shown, including cases of human chromosomes and penicillins. The ... Also, we tested the first 15,000,000 nucleotides of every human chromosome from the mentioned website. Structures of 2- ...
Chromosome 12 spans almost 134 million DNA building blocks (base pairs) and represents between 4 and 4.5 percent of the total ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 12, one copy inherited from ... Gilbert F, Kauff N. Disease genes and chromosomes: disease maps of the human genome.Chromosome 12. Genet Test. 2000;4(3):319-33 ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...
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 ...
The largest number of multiple sex chromosomes in vertebrates known today is found in the monotreme... ... Heteromorphic sex chromosomes are common in eukaryotes and largely ubiquitous in birds and mammals. ... Annu Rev Genom Human Genet 12(1):391-406. https://doi.org/10.1146/annurev-genom-082410-101518 CrossRefGoogle Scholar ... 22 chromosomes. Males exhibited an astonishing stable ring-shaped meiotic chain composed of six X and six Y chromosomes. The ...
3. Encourage students to invert a chimp chromosome and place it next to the corresponding human chromosome, alining their ... Human Evolution Patterns. SEE "Chromosome Connections: Compelling Clues to Common Ancestry". Article by Larry Flammer published ... CHROMOSOME FUSION. This is a logical extension of any chromosome comparison lab. Students test the hypothesis that our ... and less on the details of chromosome analysis, and also involves students in doing a chromosome by chromosome matching by ...
... Nature. 1985 Nov 28-Dec 4;318(6044):384-5. doi: 10.1038/ ... Here we report tight linkage between the CF locus and an anonymous DNA probe, pJ3.11, which has been assigned to chromosome ...
Previously, with the exception of the Paleoafrican Y-chromosome clades A and B, all other human Y chromosomes fell into three ... Use of Y Chromosome and Mitochondrial DNA Population Structure in Tracing Human Migrations. Underhill PA, Kivisild T.. Well- ... Tracing Human Migrations with Y chromosomes and mtDNA (new Underhill/Kivisild paper) ... Human genetic variation: the first 50 dimensions. Human genetic variation: 124+ clusters with the Galore approach. How Y-STR ...
A gene-centric Human Proteome Project has been proposed to characterize the human protein-coding genes in a chromosome-centered ... Contribution of antibody-based protein profiling to the human chromosome-centric proteome project (C-HPP). Fagerberg, Linn KTH ... each gene with regards to protein evidence is visualized in a chromosome-centric manner as part of a new version of the Human ... We estimate that there is good evidence for protein existence for 69% (n = 13985) of the human protein-coding genes, while 23% ...
Chromosome Damage and Polyploidization Induced in Human Peripheral Leukocytes in Vivo and in Vitro with Nitrogen Mustard, 6- ... Chromosome Damage and Polyploidization Induced in Human Peripheral Leukocytes in Vivo and in Vitro with Nitrogen Mustard, 6- ... Chromosome Damage and Polyploidization Induced in Human Peripheral Leukocytes in Vivo and in Vitro with Nitrogen Mustard, 6- ... Chromosome Damage and Polyploidization Induced in Human Peripheral Leukocytes in Vivo and in Vitro with Nitrogen Mustard, 6- ...
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. ... Chromosome Deletion. Chromosomes, Human, 16-18. Chromosomes, Human, 19-20. Chromosomes, Human, 21-22 and Y. Chromosomes, Human ... Humans. Leukemia, Myeloid / genetics*. Male. Middle Aged. Translocation, Genetic. Trisomy. From MEDLINE®/PubMed®, a database of ...
A patient with triplication of all of chromosome arm 20p is presented to illustrate the relatively modest degree of ... Chromosome Banding * Chromosomes, Human, 19-20* * Chromosomes, Human, 6-12 and X ... Triplication of chromosome arm 20p due to inherited translocation and secondary nondisjunction Am J Med Genet. 1979;4(1):47-50. ... A patient with triplication of all of chromosome arm 20p is presented to illustrate the relatively modest degree of ...
HUMAN HEREDITY presents the concepts of human genetics in clear, concise language and provides relevant examples that you can ... Karyotypes and Chromosome Aberrations. 7. Development and Sex Determination. 8. The Structure, Replication, and Chromosomal ... Human Heredity: Principles and Issues / Edition 9. HUMAN HEREDITY presents the concepts of human genetics in clear, concise ... Empowerment Series: Understanding Human Behavior and the Social Zastrow and Kirst-Ashmans UNDERSTANDING HUMAN BEHAVIOR AND THE ...
Chromosomes and Human Inheritance. 13. DNA Structure and Function. 14. From DNA to Protein. 15. Controls Over Genes. 16. ... 6. Ground Rules of Metabolism. 7. Where It Starts?Photosynthesis. 8. How Cells Release Chemical Energy. Unit II: PRINCIPLES OF ...
6-bisphosphate as well as fructose-1,6-bisphosphate (PubMed:19015259). Acts as a negative regulator of glycolysis by lowering ... intracellular levels of fructose-2,6-bisphosphate in a p53/TP53-dependent manner, resulting in the pentose phosphate pathway ( ... Human chromosome 12: entries, gene names and cross-references to MIM. *MIM cross-references. Online Mendelian Inheritance in ... "Regulatory role of p53 in cancer metabolism via SCO2 and TIGAR in human breast cancer.". Won K.Y., Lim S.J., Kim G.Y., Kim Y.W. ...
Methyltransferase required for the conversion of 2-polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-polyprenyl-3-methyl-6- ... Human chromosome 12: entries, gene names and cross-references to MIM. *Human entries with polymorphisms or disease mutations. ... List of human entries with polymorphisms or disease mutations. *Human polymorphisms and disease mutations. Index of human ... COQ5_HUMAN. ,p>This subsection of the Entry information section provides one or more accession number(s). These are stable ...
Chromosome 19 (human). File:Human male karyotpe high resolution - Chromosome 19 cropped.png. Human chromosome 19 pair after G- ... Chromosome 19 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 19.. The following are some of the gene count estimates of human chromosome 19. ... File:Human male karyotpe high resolution - Chromosome 19.png. Chromosome 19 pair. in human male karyogram. ...
This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.. *v ... 2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. doi:10.1038/nature02055. PMID ... Secretagogin is a protein that in humans is encoded by the SCGN gene.[5][6] ... "Proteomics and transcriptomics analyses of secretagogin down-regulation in human non-functional pituitary adenomas". Pituitary ...
2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805-11. doi:10.1038/nature02055. PMID ... "Alternative splicing of the LST-1 gene located in the Major Histocompatibility Complex on human chromosome 6". DNA Seq. 8 (3): ... 2002). "Human Dendritic Cells Activate Resting Natural Killer (NK) Cells and Are Recognized via the NKp30 Receptor by Activated ... Yu X, Weissman SM (2000). "Characterization of the promoter of human leukocyte-specific transcript 1. A small gene with a ...
The vast majority of the scientific community is cognizant of the importance of chromosomes and chromosomal structure in ... and the ribonucleoprotein complex of a catalytic human reverse transcriptase. The human telomerase gene commonly referred to as ... Chromosomes are those structures within our cells that contain genes. If an abnormality occurs (such as a replacement, of one ... Normally every person has a nucleus in each cell which is made up of twenty-three pairs of chromosomes which are genetic and in ...
Restriction Fragment Length Polymorphism Applications in Human Chromosome Mapping 12. The Family of Bovine Prolactin-Related ... In Situ Hybridization and High-Resolution Banding of Chromosomes 7. Pulsed-Field Gel Electrophoresis and Its Application in the ... Hypervariable Minisatellites and Their Use in Animal Breeding 6. ... 6 Month Rental - $34.98. 12 Month Rental - $41.97. Amazon ...
U.S. National Library of Medicine 8600 Rockville Pike, Bethesda, MD 20894 U.S. Department of Health and Human Services National ... Genes Chromosomes Cancer. 2003 Dec;38(4):368-75. Review. Citation on PubMed ... TSC1 and TSC2: genes that are mutated in the human genetic disorder tuberous sclerosis. Biochem Soc Trans. 2003 Jun;31(Pt 3): ... Epub 2008 Jan 12. Review. Citation on PubMed. *Sampson JR. ... 592-6. Citation on PubMed. *Yeung RS. Multiple roles of the ...
  • HACs are useful in expression studies as gene transfer vectors, as a tool for elucidating human chromosome function, and as a method for actively annotating the human genome. (wikipedia.org)
  • One of the main deficiencies with the original chimpanzee genome sequence published in 20053 was that it was a draft sequence and only represented a 3.6-fold random coverage of the 21 chimpanzee autosomes, and a 1.8-fold redundancy of the X and Y sex chromosomes. (freerepublic.com)
  • In the 2005 chimpanzee genome project and resulting Nature journal publication, the sequence contigs4 were not assembled and oriented based on a map of the chimpanzee genome, but rather on a map of the human genome. (freerepublic.com)
  • Given the fact that the chimpanzee genome is at least 10 percent larger5 overall than the human genome, this method of assembly was not only biased toward an evolutionary presupposition of human-chimp similarity, but was also inherently flawed. (freerepublic.com)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). (wikipedia.org)
  • A fourth major problem for the alleged fusion signature on chromosome 2 is that it occurs in a region of the genome that is full of genes. (icr.org)
  • 10,11 This author has recently verified that an overall lack of synteny supporting fusion still holds true for over 2.7 million bases surrounding the fusion site based on the most recent version of the chimpanzee genome compared to human (Tomkins, unpublished data). (icr.org)
  • Bertranpetit, J 2000 Genome, diversity, and origins: The Y chromosome as a storyteller. (springer.com)
  • Phylogenies of the maternally inherited mtDNA genome and the paternally inherited portion of the nonrecombining Y chromosome retain sequential records of the accumulation of genetic diversity. (blogspot.com)
  • Although knowledge regarding the diversity of the entire human genome will be needed to completely characterize human genetic evolution, these uniparentally inherited loci are unique indicators of gender in modulating the extant population structure. (blogspot.com)
  • Here, we report on the protein evidence for all genes predicted from the genome sequence based on manual annotation from literature (UniProt), antibody-based profiling in cells, tissues and organs and analysis of the transcript profiles using next generation sequencing in human cell lines of different origins. (diva-portal.org)
  • Y chromosome contains the largest non-recombining block in human genome and can be used to trace the male line of descent 4 . (nature.com)
  • The experiment designed to map the genetic sexing trait in B. cucurbitae , white pupae ( wp ), also enabled the generation of a chromosome-scale genome assembly by integrating the linkage map with the assembly. (g3journal.org)
  • This chromosome-scale genome assembly is complete, has high contiguity, was generated using a minimal input DNA, and will be used to further characterize the genetic mechanisms underlying wp . (g3journal.org)
  • Here, using genome-wide analyses of X, Y, autosomal and mitochondrial DNA, in combination with extensive population genetic simulations, we show that low observed Y chromosome variability is not consistent with a purely neutral model. (blogspot.com)
  • 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. (blogspot.com)
  • Two basic KIR haplotypes can be found in the human genome: group A haplotypes, which have a fixed number of genes that encode inhibitory receptors (with the exception of the activating receptor KIR2DS4), and group B haplotypes, which have variable gene content, including additional activating KIR genes ( 4 , 9 ). (jimmunol.org)
  • These improvements result in a genome of 795 scaffolds, 275 Mb in length, with an N50 length of 2.1 Mb, an N50 number of 34, and with 99% of the genome placed, and 84% anchored on chromosomes. (g3journal.org)
  • We use the new genome assembly to confirm that the Heliconius genome underwent 10 chromosome fusions since the split with its sister genus Eueides , over a period of about 6 million yr. (g3journal.org)
  • Where scaffolds are assigned to chromosomes, often a substantial fraction of the genome is left unmapped, and scaffolds are often unordered or unoriented along the chromosomes. (g3journal.org)
  • Comprehensive mapping of long-range interactions reveals folding principles of the human genome. (nature.com)
  • Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions. (nature.com)
  • The closest homology and similarity in genome organization is to HHV-7 and next to human cytomegalovirus (HCMV). (cdc.gov)
  • The human genome encodes thousands of long noncoding RNAs (lncRNAs). (jci.org)
  • Although less than 1.5% of the human genome codes for proteins, a much larger fraction of the human genome appears to code for RNA. (jci.org)
  • In a separate project, an international consortium of researchers has sequenced the genome of the Anopheles gambiae mosquito*, which transmits the parasite to humans. (sanger.ac.uk)
  • The draft human genome was published by an international consortium in February 2001. (sanger.ac.uk)
  • The work was carried out in the UK at the Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, which also carried out one-third of the human genome sequencing programme , and in the USA at The Institute for Genomic Research and Stanford University . (sanger.ac.uk)
  • The Plasmodium falciparum genome, which consists of 24 million base pairs of DNA is divided into 14 chromosomes- compared to 23 in the human genome. (sanger.ac.uk)
  • The Institute for Genome Research (TIGR) sequenced 2, 10, 11 and 14 : Stanford sequenced chromosome 12. (sanger.ac.uk)
  • Chapter 1 What is in a Human Genome? (mheducation.com)
  • 2002) Independent genome‐wide scans identify a chromosome 18 quantitative‐trait locus influencing dyslexia. (els.net)
  • 2002) A genome‐wide screen in families from the Colorado twin study of reading disability with evidence that a quantitative trait locus on chromosome 2p influences multiple measures of developmental dyslexia. (els.net)
  • The genome sequence for T. pallidum reveals the existence of 12 membrane (surface) proteins that could be tested in experimental vaccines. (bio-medicine.org)
  • Early studies of mitotic chromosomes of the domestic cat revealed an easily distinguishable karyotype consisting of 18 autosomal chromosomes and the XY sex chromosome pair, resulting in a 2N complement of 38 chromosomes for the cat genome. (vin.com)
  • Whole Genome Shotgun Sequencing (WGSS) was subsequently performed on the Hulk, from which chromosome γ was assembled and Bacterial Artificial Chromosomes (BAC) were created. (ubc.ca)
  • PvuII polymorphic site upstream to the human ApoCIII gene. (harvard.edu)
  • Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11. (harvard.edu)
  • The nucleotide and derived amino acid sequence of human apolipoprotein A-IV mRNA and the close linkage of its gene to the genes of apolipoproteins A-I and C-III. (harvard.edu)
  • The title of the recent journal article accurately sums up the research findings: 'Chimpanzee and Human Y Chromosomes are Remarkably Divergent in Structure and Gene Content. (freerepublic.com)
  • As far as looking at specific genes, the chimp and human Y chromosomes had a dramatic difference in gene content of 53 percent. (freerepublic.com)
  • The human Y chromosome contains a third more gene categories--entirely different classes of genes--compared to chimps. (freerepublic.com)
  • Chromosome 12 contains the Homeobox C gene cluster. (wikipedia.org)
  • The following are some of the gene count estimates of human chromosome 12. (wikipedia.org)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
  • 12 It is not a fossil remnant of a chromosomal accident at all but an important DNA regulatory feature called a promoter (genetic switch) inside a highly expressed gene. (icr.org)
  • This gene is expressed in at least 255 different tissue and cell types in humans and is highly coregulated with many other important genes in the cell. (icr.org)
  • 12 So not only is the gene highly active throughout the human body, it is tightly networked with many other genes, including those that are involved in the development of blood cells. (icr.org)
  • It is common for human genes to have these promoter regions located both in front of the main body of the gene and inside them. (icr.org)
  • The mother can be $X^{c}X^{c}$, meaning she is homozygous recessive for the colorblindness gene and is colorblind because she has the colorblindness gene on both of her X chromosomes. (gradesaver.com)
  • She also can be $X^{C}X^{c}$, which means she is only a carrier and has the colorblindness gene only on one X chromosome whereas the other X chromosome has the normal gene that is expressed and masks the effects of the colorblindness gene. (gradesaver.com)
  • The male child only needs to inherit the colorblindness gene from one of his mother's chromosomes to be colorblind. (gradesaver.com)
  • The father could be either $X^{c}Y$ or $X^{C}Y$ because even if the father were colorblind and had the colorblindness gene on his single X chromosome, he could not pass his colorblindness gene on to male offspring because he only contributes the Y chromosome to his male offspring, and the Y chromosome does not carry the colorblindness gene at all. (gradesaver.com)
  • The most common translocation that causes this condition fuses part of the PDGFRB gene from chromosome 5 with part of the ETV6 gene from chromosome 12, written as t(5;12)(q31-33;p13). (medlineplus.gov)
  • A gene-centric Human Proteome Project has been proposed to characterize the human protein-coding genes in a chromosome-centered manner to understand human biology and disease. (diva-portal.org)
  • The status for each gene with regards to protein evidence is visualized in a chromosome-centric manner as part of a new version of the Human Protein Atlas (www.proteinatlas.org). (diva-portal.org)
  • The human telomerase gene commonly referred to as hTERT is responsible for activating telomerase and is further regulated by transcription factors. (bartleby.com)
  • Normally every person has a nucleus in each cell which is made up of twenty-three pairs of chromosomes which are genetic and in this case there were too many duplicated of the twenty- first gene. (bartleby.com)
  • For this cross, we need a marker with one dominant gene along each observed chromosome. (bartleby.com)
  • Secretagogin is a protein that in humans is encoded by the SCGN gene . (wikipedia.org)
  • This article on a gene on human chromosome 6 is a stub . (wikipedia.org)
  • Leukocyte-specific transcript 1 protein is a protein that in humans is encoded by the LST1 gene. (wikipedia.org)
  • There are estimated to be over 4000 human diseases caused by single gene defects. (prezi.com)
  • Types Multiple gene disorder Depending on which type of chromosome is afected, they can be classified in Autosomal Sexual When the disease is related onto a no sexual chromosome Dominant Recesive Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. (prezi.com)
  • These C57BL/6J-congenic SOD1-G93A transgenic mice carry a reduced copy number of the variant human superoxide dismutase 1 soluble gene transgene, Tg(SOD1*G93A) dl 1Gur. (jax.org)
  • The transgene carries a variant of the human Superoxide dismutase-1 gene (glycine to alanine at position 93). (jax.org)
  • In 1997, the achromatopsia gene was discovered to reside on chromosome 2. (encyclopedia.com)
  • Gene annotation and synteny analysis show a near perfect relationship between chromosomes in B. cucurbitae and Muller elements A-E in Drosophila melanogaster . (g3journal.org)
  • The subject linking most of my research centres around the major histocompatibility complex (MHC), a gene complex with an essential impact on pathogen resistance, sexual selection and odour profiles, both in humans and wildlife. (uni-ulm.de)
  • Variation and linkage disequilibrium within odorant receptor gene clusters linked to the human major histocompatibility complex. (uni-ulm.de)
  • The human HOX gene family. (sigmaaldrich.com)
  • RT "Alternative splicing in the human acetyl-CoA carboxylase 2 (ACC2) RT gene. (genome.jp)
  • RT "Identification of a second human acetyl-CoA carboxylase gene. (genome.jp)
  • The gene responsible for the more complex form of the disorder has been tracked to chromosome 6 (6p21.1-p12). (rarediseases.org)
  • This is why we decided to examine the effects of the combination of 1,25D and all- trans -retinoic acid (ATRA) on VDR gene expression in normal human and murine blood cells at various steps of their development. (mdpi.com)
  • We tested the expression of VDR and regulation of this gene in response to 1,25D or ATRA, as well as transcriptional activities of nuclear receptors VDR and RARs in human and murine blood cells. (mdpi.com)
  • Describing chromosome inversions, recombination rate variation, and gene flow in full requires as close to chromosomal assemblies of the genomes of study species as possible. (g3journal.org)
  • Cremer, T. & Cremer, C. Chromosome territories, nuclear architecture and gene regulation in mammalian cells. (nature.com)
  • Although most remain functionally uncharacterized biological "dark matter," lncRNAs have garnered considerable attention for their diverse roles in human biology, including developmental programs and tumor suppressor gene networks. (jci.org)
  • Here, we explore the rapidly expanding literature by discussing lncRNAs that exert epigenetic, transcriptional, and posttranscriptional regulation in gene networks that are relevant to human health, including tumor suppression and development. (jci.org)
  • 1998) Mutation screening of the human GABAB receptor gene in patients with juvenile myoclonic epilepsy and dyslexia. (els.net)
  • 1999) A new gene (DYX3) for dyslexia is located on chromosome 2. (els.net)
  • 2001) Family‐based association mapping provides evidence for a gene for reading disability on chromosome 15q. (els.net)
  • 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. (biomedcentral.com)
  • 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. (biomedcentral.com)
  • Using oligonucleotide microarrays we compared the gene expression profiles of hearts of human fetuses with and without Hsa21 trisomy. (biomedcentral.com)
  • DNA methylation is a common epigenetic marker and plays important roles in the regulation of gene expression, genomic imprinting, X-chromosome inactivation, embryonic development, and cancer5. (ubc.ca)
  • According to the clonal and parallel evolution models, it is possible that a metastasis suppressor gene(s) for lung cancer is present on chromosome 11p. (aacrjournals.org)
  • The gene encoding Keratin 74 maps to human chromosome 12. (scbt.com)
  • The CYP17A1 gene lies at 104.5 Mbp, on the shoulder of our linkage peak on chromosome 10 and encodes the cytochrome P450c17α enzyme that is involved in estrogen biosynthesis and metabolism [ 10 ]. (pubmedcentralcanada.ca)
  • The gene is expressed in human follicles, corpora lutea and endometrial carcinoma cells [ 11 - 13 ]. (pubmedcentralcanada.ca)
  • The resulting Human Transcriptome Map generates gene expression profiles for any chromosomal region in 12 normal and pathologic tissue types. (sciencemag.org)
  • A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. (wiley.com)
  • Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today's genetics teaching, and includes updated discussion of genetic risk assessment, "single gene" disorders and therapeutics. (wiley.com)
  • Human Molecular Genetics. (wikipedia.org)
  • Dienekes' Anthropology blog is dedicated to human population genetics, physical anthropology, archaeology, and history. (blogspot.com)
  • 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. (barnesandnoble.com)
  • 1. A Perspective on Human Genetics. (barnesandnoble.com)
  • 4. Pedigree Analysis in Human Genetics. (barnesandnoble.com)
  • 19. Population Genetics and Human Evolution. (barnesandnoble.com)
  • European Journal of Human Genetics 17(9):1182-9. (uni-ulm.de)
  • European Journal of Human Genetics. (uni-ulm.de)
  • He has also written articles on aspects of genetics for the McGraw-Hill Encyclopedia of Science and Technology and has published a newsletter on advances in human genetics for instructors and students. (cengage.com)
  • At the undergraduate level, he has focused on teaching genetics, human genetics for non-majors, and general biology to majors and non-majors. (cengage.com)
  • Human Molecular Genetics 25(24), pp. 5483-5489. (cardiff.ac.uk)
  • American Journal of Human Genetics 63A: 356. (els.net)
  • American Journal of Human Genetics 69 (supplement): 538. (els.net)
  • American Journal of Human Genetics 64: 146-156. (els.net)
  • Paper presented at the Tenth International Congress of Human Genetics. (els.net)
  • American Journal of Human Genetics 64: 157-164. (els.net)
  • American Journal of Human Genetics 60: 27-39. (els.net)
  • Human Molecular Genetics 9(5): 843-848. (els.net)
  • Cancer Genetics -- 12. (princeton.edu)
  • 6. A nucleotide sequence is a scientific notation understood in the field of human genetics as the primary structure of the DNA molecule, akin to formulae that represent chemical compounds, e.g. (justia.com)
  • This fourth edition of the best-selling textbook, Human Genetics and Genomics , clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. (wiley.com)
  • The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline. (wiley.com)
  • The perfect companion to the genetics component of both PBL and Integrated medical courses, Human Genetics and Genomics 4e, presents the perfect balance between the bio molecular basics of genetics and clinical cases and snapshots, and is fully supported with online supplements. (wiley.com)
  • Alternative methods of creating transgenes, such as utilizing yeast artificial chromosomes and bacterial artificial chromosomes, lead to unpredictable problems. (wikipedia.org)
  • Yeast artificial chromosomes and bacterial artificial chromosomes were created before human artificial chromosomes, which were first developed in 1997. (wikipedia.org)
  • Chromosome abnormalities in CML. (biomedsearch.com)
  • Similar additional chromosome abnormalities were observed in the terminal stage of the disease in 5 of 9 patients with aneuploid cell lines. (biomedsearch.com)
  • CHROMOSOMAL ABNORMALITIES A) NUMERICAL CHROMOSOME ABNORMALITIES 1) Klinefelter Syndrome This syndrome was first described by Harry Klinefelter in 1942 as a clinical condition with small testes, azoospermia, gynecomastia and an elevated serum FSH. (bartleby.com)
  • Definition A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. (prezi.com)
  • Because cat has a highly recognizable X-linked trait, 2 -5 Orange , and the X-inactivation process was recognized, 6 tortoiseshell and calico male cats were the first feline suspects of chromosomal abnormalities. (vin.com)
  • Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure. (medlineplus.gov)
  • 2. identify examples of inversion in homologous chromosomes. (indiana.edu)
  • This simple model of a nucleus with only one pair of chromosomes illustrates the process of synapsis - the pairing of homologous chromosomes. (healthcanal.com)
  • This involves the pairing, or synapsis, of homologous chromosomes in which the chromosome from the mother pairs with the analogous chromosome from the father. (healthcanal.com)
  • The whole goal of the cell at this developmental stage is to pair up homologous chromosomes, to reinforce that pairing through formation of the synaptonemal complex, to make crossovers between homologs, and then to separate the pairs into different daughter cells," said Dernburg, who is also a researcher at Lawrence Berkeley National Laboratory (LBNL) and a faculty affiliate of the California Institute for Quantitative Biosciences (QB3). (healthcanal.com)
  • But the synaptonemal complex can form between non-homologous regions of the chromosomes, so pairing has to be coordinated with synapsis, and synapsis has to be regulated so it happens only between homologous chromosomes. (healthcanal.com)
  • What are homologous chromosomes? (biologycorner.com)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 12. (medlineplus.gov)
  • Although Pallister-Killian mosaic syndrome is usually caused by an isochromosome 12p, other, more complex chromosomal changes involving chromosome 12 are responsible for the disorder in rare cases. (medlineplus.gov)
  • Chromosomal analysis of peripheral leukocytes in patients being treated with nitrogen mustard, 6-mercaptopurine, and A-649 demonstrated an increase in polyploidy, including cells showing endoreduplication. (aacrjournals.org)
  • The vast majority of the scientific community is cognizant of the importance of chromosomes and chromosomal structure in cellular replication and lifespan. (bartleby.com)
  • The term telomere refers to the caps located on the ends of chromosomes as a form of protection against chromosomal shortening and aging. (bartleby.com)
  • While complex- ments and oncogenes in malignancy and the ities of older questions of chromosome/ parallelism between the neoplastic and phy- chromatin organization are being understood, logenetic chromosomal alterations are discussed newer dimensions and perspectives have been in the next two chapters. (indigo.ca)
  • Altogether, we have isolated and sequenced 30 human homeoboxes clustered in 4 chromosomal regions called HOX loci. (sigmaaldrich.com)
  • Neither migration nor admixture are mentioned in the text, and, in my opinion, these processes have shaped modern human Y chromosomal variation. (blogspot.com)
  • Clinical Cytogenetics: The Chromosomal Basis of Human Disease -- 7. (princeton.edu)
  • The chromosomal position of human genes is rapidly being established. (sciencemag.org)
  • GeneMap'99 ( 1 ) gives the chromosomal position of 45,049 human expressed sequence tags (ESTs) and genes belonging to 24,106 UniGene clusters. (sciencemag.org)
  • Several different changes involving chromosome 12 have been reported, including an extra piece of the chromosome in each cell (partial trisomy 12), a missing segment of the chromosome in each cell (partial monosomy 12), and a circular structure called a ring chromosome 12. (medlineplus.gov)
  • We estimate that there is good evidence for protein existence for 69% (n = 13985) of the human protein-coding genes, while 23% have only evidence on the RNA level and 7% still lack experimental evidence. (diva-portal.org)
  • [6] This protein plays an important role in the release of the stress hormone Corticotropin-releasing hormone (CRH) and which only then enables stress processes in the brain. (wikipedia.org)
  • M83 transgenic mice expresses the mutant human A53T alpha-synuclein under the direction of the mouse prion protein promoter. (jax.org)
  • These transgenic mice express human A53T variant alpha-synuclein (full-length, 140 amino acid isoform) under the direction of the mouse prion protein promoter. (jax.org)
  • A transgenic construct containing the mouse prion protein promoter, its 5' and 3' untranslated regions and human alpha-synuclein A53T mutation cDNA sequence was injected into fertilized B6C3H mouse eggs. (jax.org)
  • The transgene contains the mouse prion protein promoter, its 5' and 3' untranslated regions, and a human alpha synuclein cDNA sequence encoding a mutated protein with an Ala53Thr mutation. (jax.org)
  • RT "Regulation of 5'AMP-activated protein kinase activity and substrate RT utilization in exercising human skeletal muscle. (genome.jp)
  • Hermansky-Pudlak syndrome 6 protein (HPS-6), also designated Ruby-eye protein homolog (Ru) regulates the function and synthesis of lysosomes and other specialized organelles. (scbt.com)
  • Here, chromosome attachment sites at the nuclear envelope are marked by green fluorescent protein (GFP), while the chromosomes themselves are labeled with a red fluorescent protein. (healthcanal.com)
  • Once the chromosomes come together, a protein called dynein assesses whether or not the chromosomes are homologous and, if yes, allows formation of a zipper-like synptonemal complex between the two. (healthcanal.com)
  • To stabilize the chromosome pairs, protein links form along the length of the homologs, like a zipper. (healthcanal.com)
  • 6. A __________________ is a segment of DNA that codes for a protein. (biologycorner.com)
  • Keratin 74 Antibody (E-6) is a high quality monoclonal Keratin 74 antibody (also designated Keratin 74 antibody) suitable for the detection of the Keratin 74 protein of human origin. (scbt.com)
  • Two candidate genes on chromosome 10q, which have previously been implicated in endometriosis and uterine function, are cytochrome P450, family 17, subfamily A, polypeptide 1 ( CYP17A1 , MIM #609300) and interferon-induced protein with tetratricopeptide repeats 1 ( IFIT1 , MIM #147690) [ 7 - 9 ]. (pubmedcentralcanada.ca)
  • Chromosome 12 is one of the 23 pairs of chromosomes in humans. (wikipedia.org)
  • Chromosome 12 spans about 133 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells. (wikipedia.org)
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
  • Two copies of chromosome 12, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • Chromosome 19 spans more than 58.6 million base pairs , the building material of DNA . (wikidoc.org)
  • Human species has in total 46 chromosomes, which are grouped into 23 pairs, each pair consisting of one chromosome from our mother and one from our father. (prezi.com)
  • Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. (rarediseases.org)
  • Humans have 23 pairs of chromosomes while chimpanzees have 24. (answersingenesis.org)
  • While 18 pairs of chromosomes are 'virtually identical', chromosomes 4, 9 and 12 show evidence of being 'remodeled. (answersingenesis.org)
  • The Britten 9 study looked at 779 kilobase pairs to carefully examine differences between chimpanzees and humans. (answersingenesis.org)
  • The complete set of chromosomes in a cell arranged in pairs in order of decreasing size is termed a Karyotype. (gradesaver.com)
  • New findings by University of California, Berkeley, scientists show that the cell's cytoskeleton, which moves things around in the cell, plays a critical role, essentially reaching into the nucleus to bring chromosome pairs together in preparation for recombination and segregation. (healthcanal.com)
  • HUMAN HEREDITY engages non-Biology majors with concepts and examples that they can apply to themselves, their families, and their work environment. (cengage.com)
  • 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. (springer.com)
  • We also used 17 Y short tandem repeat loci in the non-recombining portion of the Y chromosome. (daum.net)
  • Quantitative trait loci analysis revealed SNP loci near position 42 MB on chromosome 3 to be tightly linked to wp . (g3journal.org)
  • 1997) Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. (els.net)
  • 4 Recently, two loci on fox chromosome 12 (VVU12) were identified as being associated with domesticated behavior. (creation.com)
  • Even if you assume an evolutionary timeline of up to six million years since the fusion event occurred, the data do not match up with known mutation rates or the variability found in human DNA. (icr.org)
  • In 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. (springer.com)
  • Characteristics of this human disease are associated with transgenes and other mutation types in the mouse. (jax.org)
  • 25. What are the types of chromosome mutation. (biologycorner.com)
  • A human artificial chromosome (HAC) is a microchromosome that can act as a new chromosome in a population of human cells. (wikipedia.org)
  • HACs were first constructed de novo in 1997 by adding alpha-satellite DNA to telomeric and genomic DNA in human HT1080 cells. (wikipedia.org)
  • 21HAC was also able to be transferred into cells from a variety of species (mice, chickens, humans). (wikipedia.org)
  • Cells normally have two copies of each chromosome, one inherited from each parent. (medlineplus.gov)
  • In people with Pallister-Killian mosaic syndrome, cells have the two usual copies of chromosome 12, but some cells also have the isochromosome 12p. (medlineplus.gov)
  • These cells have a total of four copies of all the genes on the p arm of chromosome 12. (medlineplus.gov)
  • For example, rearrangements (translocations) of genetic material between chromosome 12 and other chromosomes are often found in certain cancers of blood-forming cells (leukemias) and cancers of immune system cells (lymphomas). (medlineplus.gov)
  • Additionally, somatic mutations may lead to an extra copy of chromosome 12 (trisomy 12) in cancer cells, specifically a type of leukemia called chronic lymphocytic leukemia. (medlineplus.gov)
  • The study of chromosome banding pattern of leukaemic cells in 15 patients with CML revealed t(9;22) in all cases. (biomedsearch.com)
  • To duplicate all this information stored in the chromosomes and to make it usefull cells use a process we call central dogma. (prezi.com)
  • So the question remains: at what point did those cells become human? (huffingtonpost.com)
  • They identified a handful of immune system-related genes on the X chromosome that are expressed less-producing fewer corresponding molecules-in the immune cells of female mice. (medicalxpress.com)
  • 12-(S)-HETE is an arachidonic acid metabolite secreted by platelets and tumor cells, and known to induce endothelial cells retraction allowing invasive cell access to the subendothelial matrix, which is a critical step for extravasation or metastasis. (genecards.org)
  • Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. (rarediseases.org)
  • Human body cells normally have 46 chromosomes. (rarediseases.org)
  • Recently, it has been shown that human CMV (HCMV) infection/reactivation can deeply influence NK cell reconstitution after umbilical cord blood transplantation by accelerating the differentiation of mature NKG2A − killer Ig-like receptor (KIR) + NK cells characterized by the expression of the NKG2C-activating receptor. (jimmunol.org)
  • Most human NK cells express inhibitory receptors specific for HLA class I molecules, including the killer Ig-like receptors (KIRs), able to distinguish among different HLA-A, -B, and -C allotypes ( 4 ), as well as the CD94/NKG2A heterodimer, specific for HLA-E ( 5 ). (jimmunol.org)
  • An improved method for routine preparation of intact artificial chromosome DNA (340-1000 kb) for transfection into human cells. (nih.gov)
  • It is considered that numerous proinflammatory cytokines, such as TNF-alpha, IL-1, IL-2, IL-6, IL-8, and IL-12, have the main role on the pathogenesis and they are secreted by T cells infiltrated to the skin, in response to unspecified antigenic stimulus. (hindawi.com)
  • It is a component of normal human skin and it has been immunologically detected in basal keratinocytes, endothelial cells, mononuclear cells, and fibroblasts [ 12 ]. (hindawi.com)
  • The movement is very obvious in the cells on the right side of this frame, which are actively pairing and synapsing their chromosomes, while the motion has slowed in the later-stage cells to the left, which have completed pairing and synapsis. (healthcanal.com)
  • The cells with only red staining have not yet entered meiosis, while the cells stained both red and green have begun or completed chromosome pairing and synapsis. (healthcanal.com)
  • Initially designated HBLV, for human B-lymphotropic virus, HHV-6 was isolated fortuitously in 1986 from interleukin 2-stimulated peripheral blood mononuclear cells (PBMCs) of patients with AIDS or lymphoproliferative disorders (1) . (cdc.gov)
  • The cells supporting virus growth were characterized as CD4+ T lymphocytes (6) . (cdc.gov)
  • We have previously identified Brachyury, a T-box transcription factor, as an inducer of mesenchymal features in human carcinoma cells. (aacrjournals.org)
  • The results show for the first time that Brachyury expression is enhanced during TGF-β1-induced EMT in various human cancer cell lines, and that a positive feedback loop is established between Brachyury and TGF-β1 in mesenchymal-like tumor cells. (aacrjournals.org)
  • Numerous observations also indicate that EMT is involved in the acquisition of tumor resistance to chemo- or radiotherapeutic interventions ( 5, 6 ), as well as with the acquisition of a stem cell-like phenotype by carcinoma cells ( 7, 8 ), a phenotypic change linked to drug resistance ( 9 ). (aacrjournals.org)
  • Brachyury overexpression has been shown to drive EMT and to enhance the migratory and invasive features of human cancer cells in vitro , while promoting their metastatic dissemination in vivo ( 22, 23 ). (aacrjournals.org)
  • 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. (biomedcentral.com)
  • While cells from untreated gliomas often have over-representation of chromosome 7, chromosome 22 is typically under-represented. (biomedcentral.com)
  • 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. (biomedcentral.com)
  • Karyotypic analyses demonstrated that cells selected for BCNU resistance were near-diploid with over-representation of chromosomes 7 and 22. (biomedcentral.com)
  • 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. (biomedcentral.com)
  • Cells selected for BCNU resistance either in vivo or in vitro retain sequences mapped to chromosome 22. (biomedcentral.com)
  • However, when a sufficient number of karyotypes are done it is possible to identify cells with over-representation of chromosome 22 in untreated tumors. (biomedcentral.com)
  • 1. The human body produces _____________ million new cells per second. (biologycorner.com)
  • By measuring the steady-state-RNA levels in human DS tissues and cells [ 14 - 17 ] and in tissues from mouse models of DS [ 18 - 22 ] it has been established that the trisomy causes an overall 50% increase in the RNA levels of Hsa21 genes. (biomedcentral.com)
  • Treatment of normal cells with γ-radiation caused a dissociation of the γ- from the X-chromosome. (ubc.ca)
  • Recurrent chromosome translocations in liposarcoma. (harvard.edu)
  • Translocations involving chromosome 12 are involved in a type of blood cell cancer called PDGFRB -associated chronic eosinophilic leukemia. (medlineplus.gov)
  • 2000) Two translocations of chromosome 15q associated with dyslexia. (els.net)
  • The result is a data set consisting of thousands of random sequencing contigs, or islands of contiguous sequence that need to be oriented and placed in position on their respective chromosomes. (freerepublic.com)
  • Before getting into the details of their results, it is important to understand that for the first time, the chimpanzee DNA sequence for a chromosome was assembled and oriented based on a Y chromosome map/framework built for chimpanzee and not human. (freerepublic.com)
  • As a result, the chimpanzee DNA sequence could then be more accurately compared to the human Y chromosome because it was standing on its own merit. (freerepublic.com)
  • On the human Y chromosome, there were found four major categories of DNA sequence that occupy specific regions. (freerepublic.com)
  • Just as a continent like Europe is divided into countries because of different people groups, so are chromosomes with different categories of DNA sequence. (freerepublic.com)
  • One sequence class, or category containing DNA with a characteristic sequence, within the chimpanzee Y chromosome had less than 10 percent similarity with the same class in the human Y chromosome, and vice versa. (freerepublic.com)
  • In chromosome fusion events that occur in nature in living mammals-a very rare event-the DNA signature always involves satDNA producing a DNA signature that occurs as either satDNA-satDNA or satDNA-teloDNA sequence. (icr.org)
  • RT "Corrected sequence for human acetyl-CoA carboxylase 2 obtained by RT alignment to human genomic DNA and PCR cloning from human skeletal RT muscle and heart cDNA. (genome.jp)
  • RT "The finished DNA sequence of human chromosome 12. (genome.jp)
  • 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. (biomedcentral.com)
  • Genetic testing has been available in the domestic cat since the 1960s, but as like other species, over the past 50 years, the level of resolution has improved from the chromosome level to the sequence level. (vin.com)
  • The second method involves the literal creation of a novel chromosome de novo. (wikipedia.org)
  • Even more, novel chromosome techniques tion by flow cytometry, and mapping of structural- have become an integral component of clinical ly and functionally distinct domains on metaphase and molecular genetic methodologies. (indigo.ca)
  • WGSS revealed that the genes are located on opposite arms of a novel chromosome. (ubc.ca)
  • There exists a novel chromosome, which is somehow intertwined with the centromeric region of the X-chromosome. (ubc.ca)
  • Here, we identify a novel chromosome associated with the X-chromosome contain-ing two genes that contribute to the observed Hulk phenotype. (ubc.ca)
  • Athanasiadou A, Stamatopoulos K, Tsompanakou A, Gaitatzi M, Kalogiannidis P, Anagnostopoulos A, Fassas A, Tsezou A. Clinical, immunophenotypic, and molecular profiling of trisomy 12 in chronic lymphocytic leukemia and comparison with other karyotypic subgroups defined by cytogenetic analysis. (humpath.com)
  • Detection of trisomy 12 on ovarian sex cord stromal tumors by fluorescence in situ hybridization . (humpath.com)
  • One differed by as much as 3.3-fold (330 percent), and a class specific to human 'has no counterpart in the chimpanzee MSY [male-specific Y chromosome]. (freerepublic.com)
  • Human and Chimpanzee Karyotypes packet (four figures: 2a-2d) on 4 pages. (indiana.edu)
  • 5 In other words, the genes and markers on these chromosomes are not in the same order in the human and chimpanzee. (answersingenesis.org)
  • The Y chromosome in particular is of a different size and has many markers that do not line up between the human and chimpanzee. (answersingenesis.org)
  • Scientists have prepared a human-chimpanzee comparative clone map of chromosome 21 in particular. (answersingenesis.org)
  • It is only recently that a phase chromosomes are structurally not homo- molecular view of the meiotic cell division is geneous through their length, a new world was beginning to emerge: chapter ten refers to human in the offing. (indigo.ca)
  • His current research interests involve the organization of DNA sequences in the short-arm and centromere region of human chromosome 21. (cengage.com)
  • FISH probes revealed that in all cases, save the Hulk, the γ-chromosome was associated with the centromere of the X-chromosome. (ubc.ca)
  • Here, in contrast, with several evidences, from classical and molecular cytogenetic analyses, we found 12 sex chromosomes in a Brazilian population of the smoky jungle frog, designated as Leptodactylus pentadactylus Laurenti, 1768 (Leptodactylinae), which has a karyotype with 2 n = 22 chromosomes. (springer.com)
  • Human karyotype Genetic diseases composed of? (prezi.com)
  • Central dogma of molecular Duplication Transcription Translation Human Karyotype Genetic Most genetic disorders are quite rare and affect one person in every several thousands or millions. (prezi.com)
  • To understand the concept associated with an end-to-end fusion model, it is important to know what the ends of chromosomes, telomeres , look like. (icr.org)
  • Bertorelle, G, Slatkin, M 1995 The number of segregating sites in expanding human populations, with implications for estimates of demographic parameters. (springer.com)
  • To help understand the human evolutionary history of this region, we performed Y chromosome analyses on ancient human remains from archaeological sites ranging in age from 6500 to 2700 BP. (daum.net)
  • Fluorescent in situ hybridization analyses using whole chromosome paints confirmed this finding. (biomedcentral.com)
  • Built upon the growing number of well-characterized regulatory RNAs, novel RNA-based control systems are now being applied to problems in microbial ( 6 , 7 ) and mammalian biotechnology. (jci.org)
  • X-linked dominant disorders are caused by mutations in genes on the X chromosome. (prezi.com)
  • Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (47,XXY) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity RECEssIVE X-linked recessive conditions are also caused by mutations in genes on the X chromosome. (prezi.com)
  • Y linked Y-linked disorders are caused by mutations on the Y chromosome. (prezi.com)
  • The landscape of BCR-ABL mutations in patients with Philadelphia chromosome-positive leukaemias in the era of second-generation tyrosine kinase inhibitors. (harvard.edu)
  • Alternatively, selection acting on new mutations, and affecting linked neutral sites, could reduce variability on the Y chromosome. (blogspot.com)
  • While we show that purifying selection removing deleterious mutations can explain the low diversity on the Y chromosome, we cannot exclude the possibility that positive selection acting on beneficial mutations could have also reduced diversity in linked neutral regions, and may have contributed to lowering human Y chromosome diversity. (blogspot.com)
  • The first mutations identified were for a gangliosidosis and muscular dystrophy, discovered in the early and mid-1990s, 17,18 as these diseases have well-defined phenotypes and known genes with mutations that were found in humans. (vin.com)
  • 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. (springer.com)
  • 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. (daum.net)
  • They reveal the temporal continuity of Y chromosome lineages in populations of the West Liao River valley over 5000 years, with a concurrent increase in lineage diversity caused by an influx of immigrants from other populations. (daum.net)
  • Migration may result in the expansion of a successful set of Y chromosome lineages, while admixture between divergent populations may inflate estimates of diversity in a population. (blogspot.com)
  • 1. Chromosome banding patterns provide independent confirmation of relationship in hominids, in addition to anatomical, physiological, genetic, and molecular evidence. (indiana.edu)
  • Application of various molecular meiosis and the next to molecular events in techniques in chromosome research has subse- meiotic prophase in the baker's yeast. (indigo.ca)
  • He is engaged in a collaborative effort to construct a physical map of this region of chromosome 21 for the purpose of exploring molecular mechanisms of chromosome interactions. (cengage.com)
  • Errors during meiosis lead to age-related human infertility, and to birth defects such as Down syndrome and Klinefelter syndrome," said Abby Dernburg, UC Berkeley associate professor of molecular and cell biology and a Howard Hughes Medical Institute investigator. (healthcanal.com)
  • This story proposes that in a common ancestor shared by humans and chimps, two small chromosomes somehow fused end to end to produce human chromosome 2 (Figure 1). (icr.org)
  • Evolutionary scientists believe that one of the human chromosomes has been formed through the fusion of two small chromosomes in the chimp instead of an intrinsic difference resulting from a separate creation. (answersingenesis.org)
  • Schematic representation of HHV-6 and HHV-7 genomes. (cdc.gov)
  • BMS-936564/MDX-1338: a fully human anti-CXCR4 antibody induces apoptosis in vitro and shows antitumor activity in vivo in hematologic malignancies. (nih.gov)
  • Keratin 74 Antibody (E-6) is available as the non-conjugated anti-Keratin 74 antibody. (scbt.com)
  • Chromosome 12 likely contains 1,100 to 1,200 genes that provide instructions for making proteins. (medlineplus.gov)
  • 2014). Telomerase itself is a highly intricate enzyme that is capable of interacting with accessory proteins, RNA templates, and the ribonucleoprotein complex of a catalytic human reverse transcriptase. (bartleby.com)
  • Moreover, ZO proteins also associate with gap junctions (GJs) by directly interacting with connexins [ 4 - 6 ], which points towards a general role of ZO proteins in intercellular adhesion and communication. (hindawi.com)
  • Chromosome motion can be directly observed by microscopic imaging of worms expressing fluorescent fusion proteins. (healthcanal.com)
  • In early meiosis, the chromosomes attach by their pairing centers to proteins on the nuclear envelope, which are linked to the cytoskeleton of the cell. (healthcanal.com)
  • In our experiment, we used Cy/Sb from the Discriminant cross1 progeny, as the two phenotypes belong to two different chromosomes and the phenotypes of the genes do not express on eyes or ommatidia, allowing for clear expression for oed. (bartleby.com)
  • However, the expression profile of Hsa21 genes in trisomic human subjects as well as their effects on genes located on different chromosomes are largely unknown. (biomedcentral.com)
  • Dicentric chromosomes were the most common rearrangement found. (aacrjournals.org)
  • Prenatal diagnosis is clinically available to families in which one parent is known to be a carrier of a chromosome rearrangement. (medscape.com)
  • Finally, they confirmed that several genes on the X chromosome were expressed less when the X chromosome was of paternal as compared to maternal origin. (medicalxpress.com)
  • When teloDNA-teloDNA fusions do occur in humans, they involve tissues and cell lines associated with cancerous tumors. (icr.org)
  • In fact, we and others identified several genetic alterations that were detected only in metastatic tumors but not in the corresponding primary tumors ( 6 - 12 ), supporting the authenticity of this model. (aacrjournals.org)
  • FISH-karyotyping was then employed for chromosome examination before and after treatment with γ-radiation. (ubc.ca)
  • This chromosome was confirmed by karyotyping and named chromosome γ. (ubc.ca)
  • Under evolutionary assumptions of long and gradual genetic changes, the Y chromosome structures, layouts, genes, and other sequences should be much the same in both species, given the relatively short--according to the evolutionary timeline--six-million-year time span since chimpanzees and humans supposedly diverged from a common ancestor. (freerepublic.com)
  • Examples of binary mosaics of long nucleotide sequences are shown, including cases of human chromosomes and penicillins. (mdpi.com)
  • We report the identification of 10 new human homeobox sequences. (sigmaaldrich.com)
  • At the end of each chromosome is a string of repeating DNA sequences called a telomere. (answersingenesis.org)
  • 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. (harvard.edu)
  • International Standing Committee on Human Cytogenetic Nomenclature (2013). (wikipedia.org)
  • ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). (wikipedia.org)
  • These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). (wikipedia.org)
  • Deletion of the short arm of human chromosome 1 is the most common cytogenetic abnormality observed in neuroblastoma. (pnas.org)
  • Students compare banding patterns on hominid (human and ape) chromosomes, and see striking evidence of their common ancestry. (indiana.edu)
  • The banding patterns seen on stained chromosomes from humans and chimpanzees are compared in detail, showing striking similarities. (indiana.edu)
  • 1. actively engage in the careful analysis of chromosome banding patterns. (indiana.edu)
  • Primate Cladogram (based on chromosome banding pattern analysis of apes and old world monkeys) should be examined. (indiana.edu)
  • Human chromosome 19 pair after G-banding . (wikidoc.org)
  • In Situ Hybridization and High-Resolution Banding of Chromosomes 7. (routledge.com)
  • 8. Genomic Analysis of the Subtelomeric Regions of Human Chromosomes 10q and 4q: Relevance to FSHD. (bokus.com)
  • Chromosome conformation capture (3C) technologies can be used to investigate 3D genomic structures. (nature.com)
  • Chromosome Conformation Capture Carbon Copy (5C): a massively parallel solution for mapping interactions between genomic elements. (nature.com)
  • Some of the earliest genetic testing for any species was the examination of the chromosomes to determine the presence of the normal and complete genomic complement. (vin.com)
  • Chromosomes, Human, 6-12 and X" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • Philadelphia Chromosome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • The Y chromosome is found only in males and contains many genes that specify male features, as well as genetic and regulatory information that is expressed throughout the whole body. (freerepublic.com)
  • Males exhibited an astonishing stable ring-shaped meiotic chain composed of six X and six Y chromosomes. (springer.com)
  • Because males inherit a Y chromosome from their fathers, every son of an affected father will be affected. (prezi.com)
  • While males inherit their mother's X chromosome and father's Y chromosome, females inherit X chromosomes from both parents. (medicalxpress.com)
  • Relatively few amphibian species carry heteromorphic sex chromosomes, and when present, they are frequently represented by only one pair, either XX:XY or ZZ:ZW types. (springer.com)
  • The number of sex chromosomes is larger than the number of autosomes found, and these data represent the largest number of multiple sex chromosomes ever found among vertebrate species. (springer.com)
  • HHV-6 species are divided into two variants: HHV-6A and HHV-6B. (cdc.gov)
  • Its 17 figures are mostly line-drawn maps of human species distributions and migration routes. (docme.ru)
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
  • HACs have been used to create transgenic animals for use as animal models of human disease and for production of therapeutic products. (wikipedia.org)
  • Transgenic mice on a C57BL/6 congenic background exhibit paralysis resulting in a reduced life expectancy, and may serve as a model for human amyotrophic lateral sclerosis (ALS). (jax.org)
  • Marker chromosomes in fetal loss. (nymc.edu)
  • To characterize the region of consistent deletion, we performed loss of heterozygosity (LOH) studies on 122 neuroblastoma tumor samples with 30 distal chromosome 1p polymorphisms. (pnas.org)
  • Cooper H, Hirschhorn K. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion. (medscape.com)
  • Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. (medscape.com)
  • Pallister-Killian mosaic syndrome is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i(12p). (medlineplus.gov)
  • 3.5 g after 6 months of supportive care or have complications of nephrotic syndrome, should be considered for immunosuppressive therapy. (asnjournals.org)
  • Defects in HPS6 can cause the Hermansky-Pudlak syndrome 6 (HPS6). (scbt.com)
  • More than 100 additional HHV-6 strains have been isolated from PBMCs of children with subitum or febrile syndromes (8) , from cell-free saliva of healthy or HIV-infected patients ( 9 , 10 ), from PBMCs of patients with chronic fatigue syndrome (CFS) (11) , and from PBMCs of healthy adults-these PBMCs were cultivated for human herpesvirus 7 (HHV-7) isolation (12) . (cdc.gov)
  • The Down syndrome phenotype has been attributed to overexpression of chromosome 21 (Hsa21) genes. (biomedcentral.com)
  • They found a number of regions that 'might correspond to insertions that are specific to the human lineage. (answersingenesis.org)
  • We originally analyzed the expression of platelet-derived growth factor because the genes encoding the A and B chains of this growth factor are mapped to chromosome regions 7p22 and 22q13.1, respectively. (biomedcentral.com)
  • In light of a discussion between Razib and Martin, I recently took arms and battled the concepts behind race and identity and how human genetic variation plays a role in forming these concepts. (anthropology.net)
  • Ala (G93A) substitution and was microinjected into (C57BL/6 X SJL)F1 fertilized eggs. (jax.org)
  • 6 Comparative Aspects of Chromosome Replication in Drosophila and Mammals. (indigo.ca)
  • The Drosophila orthologue of human GOLPH3 is required for contractile ring formation and membrane trafficking during cytokinesis. (genetics-gsa.org)