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

A mutation in the RIEG1 gene associated with Peters' anomaly. (1/867)

Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3' splice site mutation within the 3rd intron of the RIEG1 gene which is associated with unilateral Peters' anomaly. The mutation is a single base substition of A to T at the invariant -2 site of the 3' splice site. Peters' anomaly, which is characterised by ocular anterior segment dysgenesis and central corneal opacification, is distinct from Rieger anomaly. This is the first description of a RIEG1 mutation associated with Peters' anomaly.  (+info)

Tumor suppression in human skin carcinoma cells by chromosome 15 transfer or thrombospondin-1 overexpression through halted tumor vascularization. (2/867)

The development of skin carcinomas presently is believed to be correlated with mutations in the p53 tumor suppressor and ras gene as well as with the loss of chromosome 9. We now demonstrate that, in addition, loss of chromosome 15 may be a relevant genetic defect. Reintroduction of an extra copy of chromosome 15, but not chromosome 4, into the human skin carcinoma SCL-I cells, lacking one copy of each chromosome, resulted in tumor suppression after s.c. injection in mice. Transfection with thrombospondin-1 (TSP-1), mapped to 15q15, induced the same tumor suppression without affecting cell proliferation in vitro or in vivo. Halted tumors remained as small cysts encapsulated by surrounding stroma and blood vessels. These cysts were characterized by increased TSP-1 matrix deposition at the tumor/stroma border and a complete lack of tumor vascularization. Coinjection of TSP-1 antisense oligonucleotides drastically reduced TSP-1 expression and almost completely abolished matrix deposition at the tumor/stroma border. As a consequence, the tumor phenotype reverted to a well vascularized, progressively expanding, solid carcinoma indistinguishable from that induced by the untransfected SCL-I cells. Thus, these data strongly suggest TSP-1 as a potential tumor suppressor on chromosome 15. The data further propose an unexpected mechanism of TSP-1-mediated tumor suppression. Instead of interfering with angiogenesis in general, in this system TSP-1 acts as a matrix barrier at the tumor/stroma border, which, by halting tumor vascularization, prevents tumor cell invasion and, thus, tumor expansion.  (+info)

Cloning and characterization of a secreted frizzled-related protein that is expressed by the retinal pigment epithelium. (3/867)

The Wnt/frizzled cell signaling pathway has been implicated in the determination of polarity in a number of systems, including the Drosophila retina. The vertebrate retina develops from an undifferentiated neuroepithelium into an organized and laminated structure that demonstrates a high degree of polarity at both the tissue and cellular levels. In the process of searching for molecules that are preferentially expressed by the vertebrate retinal pigment epithelium (RPE), we identified secreted frizzled-related protein 5 (SFRP5), a member of the SFRP family that appears to act by modulating Wnt signal transduction. SFRP5 is highly expressed by RPE cells, and is also expressed in the pancreas. Within the retina, the related molecule SFRP2 is expressed specifically by cells of the inner nuclear layer. Thus, photoreceptors are likely to be bathed by two opposing gradients of SFRP molecules. Consistent with SFRP5 's postulated role in modulating Wnt signaling in the retina, it inhibits the ability of Xwnt-8 mRNA to induce axis duplication in Xenopus embryos. The human SFRP5 gene consists of three coding exons and it maps to chromosome 10q24.1; human SFRP2 maps to 4q31.3. Based on the biology and complementary expression patterns of SFRP2 and SFRP5, we suggest that they may be involved in determining the polarity of photoreceptor, and perhaps other, cells in the retina.  (+info)

A genome search identifies major quantitative trait loci on human chromosomes 3 and 4 that influence cholesterol concentrations in small LDL particles. (4/867)

Small, dense LDL particles are associated with increased risk of cardiovascular disease. To identify the genes that influence LDL size variation, we performed a genome-wide screen for cholesterol concentrations in 4 LDL size fractions. Samples from 470 members of randomly ascertained families were typed for 331 microsatellite markers spaced at approximately 15 cM intervals. Plasma LDLs were resolved by using nondenaturing gradient gel electrophoresis into 4 fraction sizes (LDL-1, 26.4 to 29.0 nm; LDL-2, 25.5 to 26.4 nm; LDL-3, 24.2 to 25.5 nm; and LDL-4, 21.0 to 24.2 nm) and cholesterol concentrations were estimated by staining with Sudan Black B. Linkage analyses used variance component methods that exploited all of the genotypic and phenotypic information in the large extended pedigrees. In multipoint linkage analyses with quantitative trait loci for the 4 fraction sizes, only LDL-3, a fraction containing small LDL particles, gave peak multipoint log10 odds in favor of linkage (LOD) scores that exceeded 3.0, a nominal criterion for evidence of significant linkage. The highest LOD scores for LDL-3 were found on chromosomes 3 (LOD=4.1), 4 (LOD=4.1), and 6 (LOD=2.9). In oligogenic analyses, the 2-locus LOD score (for chromosomes 3 and 4) increased significantly (P=0.0012) to 6.1, but including the third locus on chromosome 6 did not significantly improve the LOD score (P=0.064). Thus, we have localized 2 major quantitative trait loci that influence variation in cholesterol concentrations of small LDL particles. The 2 quantitative trait loci on chromosomes 3 and 4 are located in regions that contain the genes for apoD and the large subunit of the microsomal triglyceride transfer protein, respectively.  (+info)

The metamorphosis of a molecule: from soluble enzyme to the leukocyte receptor CD38. (5/867)

Human CD38 is a 45-kDa type II membrane glycoprotein with an intricate pattern of expression in leukocytes, although evidence is accumulating of its quite widespread expression in cells of nonvascular origin. CD38 is a member of a nascent eukaryotic gene family encoding cytosolic and membrane-bound enzymes whose substrate is NAD, a coenzyme ubiquitously distributed in nature. Functionally, CD38 is an eclectic molecule with the ability not only to catalyze but also to signal, to mobilize calcium, and to adhere to itself, to hyaluronan, and to other ligands. Interaction with CD38 on various leukocyte subpopulations has profound though diverse consequences on their life-span, but these effects seem to be independent of the enzymatic activity of the molecule. CD38 challenges our expectations of a surface molecule and we must sift through its many guises to unmask its true nature.  (+info)

Linkage disequilibrium at the ADH2 and ADH3 loci and risk of alcoholism. (6/867)

Two of the three class I alcohol dehydrogenase (ADH) genes (ADH2 and ADH3) encode known functional variants that act on alcohol with different efficiencies. Variants at both these genes have been implicated in alcoholism in some populations because allele frequencies differ between alcoholics and controls. Specifically, controls have higher frequencies of the variants with higher Vmax (ADH2*2 and ADH3*1). In samples both of alcoholics and of controls from three Taiwanese populations (Chinese, Ami, and Atayal) we found significant pairwise disequilibrium for all comparisons of the two functional polymorphisms and a third, presumably neutral, intronic polymorphism in ADH2. The class I ADH genes all lie within 80 kb on chromosome 4; thus, variants are not inherited independently, and haplotypes must be analyzed when evaluating the risk of alcoholism. In the Taiwanese Chinese we found that, only among those chromosomes containing the ADH3*1 variant (high Vmax), the proportions of chromosomes with ADH2*1 (low Vmax) and those with ADH2*2 (high Vmax) are significantly different between alcoholics and controls (P<10-5). The proportions of chromosomes with ADH3*1 and those with ADH3*2 are not significantly different between alcoholics and controls, on a constant ADH2 background (with ADH2*1, P=.83; with ADH2*2, P=.53). Thus, the observed differences in the frequency of the functional polymorphism at ADH3, between alcoholics and controls, can be accounted for by the disequilibrium with ADH2 in this population.  (+info)

DNA pooling identifies QTLs on chromosome 4 for general cognitive ability in children. (7/867)

General cognitive ability (g), which is related to many aspects of brain functioning, is one of the most heritable traits in neuroscience. Similarly to other heritable quantitatively distributed traits, genetic influence on g is likely to be due to the combined action of many genes of small effect [quantitative trait loci (QTLs)], perhaps several on each chromosome. We used DNA pooling for the first time to search a chromosome systematically with a dense map of DNA markers for allelic associations with g. We screened 147 markers on chromosome 4 such that 85% of the chromosome were estimated to be within 1 cM of a marker. Comparing pooled DNA from 51 children of high g and from 51 controls of average g, 11 significant QTL associations emerged. The association with three of these 11 markers ( D4S2943, MSX1 and D4S1607 ) replicated using DNA pooling in independent samples of 50 children of extremely high g and 50 controls. Furthermore, all three associations were confirmed when each individual was genotyped separately ( D4S2943, P = 0. 00045; MSX1, P = 0.011; D4S1607, P = 0.019). Identifying specific genes responsible for such QTL associations will open new windows in cognitive neuroscience through which to observe pathways between genes and learning and memory.  (+info)

A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. (8/867)

Stargardt disease (STGD) is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal-pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait, but many families have been described in which features of the disease are transmitted in an autosomal dominant manner. A recessive locus has been identified on chromosome 1p (STGD1), and dominant loci have been mapped to both chromosome 13q (STGD2) and chromosome 6q (STGD3). In this study, we describe a kindred with an autosomal dominant Stargardt-like phenotype. A genomewide search demonstrated linkage to a locus on chromosome 4p, with a maximum LOD score of 5.12 at a recombination fraction of.00, for marker D4S403. Analysis of extended haplotypes localized the disease gene to an approximately 12-cM interval between loci D4S1582 and D4S2397. Therefore, this kindred establishes a new dominant Stargardt-like locus, STGD4.  (+info)

Fingerprint Dive into the research topics of Duplication of the Distal Long Arm of Chromosome 15: Report of Three New Patients and Review of the Literature. Together they form a unique fingerprint. ...
Test Instructions Navigate to Site Administration , Development , Purge all caches and Purge all caches View the div#notice element on the Purge all caches page, itself a div.generalbox, and note that bottom left and bottom right corners now have the same border-radius as top right and top left corners. Alternatively, navigate to Site Administration , Notifications; there are usually a few div.generalbox elements there upon which you can verify the change. Alternatively, view or create a Web page resource and then view the resource. The content is presented inside a div.generalbox. All corners should have the same border-radius ...
Background: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder associated with the partial deletion of integral numbers of 3.3 kb D4Z4 DNA repeats within the subtelomere of chromosome 4q. A number of candidate FSHD genes, adenine nucleotide translocator 1 gene (ANT1), FSHD-related gene 1 (FRG1), FRG2 and DUX4c, upstream of the D4Z4 array (FSHD locus), and double homeobox chromosome 4 (DUX4) within the repeat itself, are upregulated in some patients, thus suggesting an underlying perturbation of the chromatin structure. Furthermore, a mouse model overexpressing FRG1 has been generated, displaying skeletal muscle defects. Results: In the context of myogenic differentiation, we compared the chromatin structure and tridimensional interaction of the D4Z4 array and FRG1 gene promoter, and FRG1 expression, in control and FSHD cells. The FRG1 gene was prematurely expressed during FSHD myoblast differentiation, thus suggesting that the number of D4Z4 repeats in ...
A recent finding by medical geneticists sheds new light on how facioscapulohumeral muscular dystrophy develops and how it might be treated. More commonly known as FSHD, the devastating disease affects both men and women. FSHD is usually an inherited genetic disorder, yet sometimes appears spontaneously via new mutations in individuals with no family history of the condition. People with the condition experience progressive muscle weakness and about 1 in 5 require wheelchair assistance by age 40, said Dr. Daniel G. Miller, University of Washington (UW) associate professor of pediatrics in the Division of Genetic Medicine. Dr. Miller and his worldwide collaborators study the molecular events leading to symptoms of FSHD in the hopes of designing therapies to prevent the emergence of symptoms or reduce their severity. In the November 11, 2012 online issue of Nature Genetics, Dr. Miller and Dr. Silvere M. van der Maarel of Leiden University in The Netherlands, along with an international team, ...
Wolf-Hirschhorn syndrome was first documented in 1961: a child with midline fusion defects. Subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. Clinical features include mental retardation, seizures, distinct facial appearance, and midline closure defects. The former Pitt-Rogers-Danks syndromes, caused by overlapping 4p deletions, now are considered as a part of Wolf-Hirschhorn syndrome.
Facioscapulohumeral muscular dystrophy (FSHD) affects over 25,000 people in the USA alone, making it one of the most prevalent genetic diseases. The genetic mutation underlying FSHD is usually a reduction in the copy number of a macrosatellite repeat on chromosome 4 referred to as D4Z4 (van Deutekom et al., 1993; Wijmenga et al., 1992). This repeat is GC-rich, highly methylated and normally subjected to repeat-induced silencing, which is disrupted in an allele-specific manner by contractions to 10 or fewer copies (van Overveld et al., 2003) or is disrupted on all D4Z4 repeats owing to mutation in the chromatin protein SMCHD1 (de Greef et al., 2009; Hartweck et al., 2013; Lemmers et al., 2012). When silencing at D4Z4 breaks down, an RNA transcript encoding the DUX4 protein (Gabriëls et al., 1999) is expressed. The presence of a poly(A) signal downstream of the D4Z4 repeats on chromosome 4 (chr4) (Dixit et al., 2007) leads to DUX4 expression and explains why disease is associated only with ...
TY - JOUR. T1 - Facioscapulohumeral muscular dystrophy region gene 1 Is a dynamic RNA-associated and actin-bundling protein. AU - Sun, Chia Yun Jessica. AU - Van Koningsbruggen, Silvana. AU - Long, Steven W.. AU - Straasheijm, Kirsten. AU - Klooster, Rinse. AU - Jones, Takako I.. AU - Bellini, Michel. AU - Levesque, Lyne. AU - Brieher, William M.. AU - Van Der Maarel, Silvère M.. AU - Jones, Peter L.. PY - 2011/8/12. Y1 - 2011/8/12. N2 - FSHD region gene 1 (FRG1) is a dynamic nuclear and cytoplasmic protein that, in skeletal muscle, shows additional localization to the sarcomere. Maintaining appropriate levels of FRG1 protein is critical for muscular and vascular development in vertebrates; however, its precise molecular function is unknown. This study investigates the molecular functions of human FRG1, along with mouse FRG1 and Xenopus frg1, using molecular, biochemical, and cellular-biological approaches, to provide further insight into its roles in vertebrate development. The nuclear ...
Facioscapulohumeral muscular dystrophy (FSHD) isan enigmatic inherited disorder, while the disease locus for this condition was mapped some 17 years ago and the mutations associated with the disease are known, the exact identity of the FSHD gene remains elusive
We report on a 4-year-old girl who presented with microcephaly, multiple minor anomalies of face and limbs, congenital heart defect, hypotonia, neuropsychomotor delay, deafness and seizures. A GTG-banded karyotype identified an additional fragment of unknown origin on the terminal region of 4p. Parental karyotypes were normal. FISH analysis using a whole chromosome paint probe for chromosome 4 and subtelomere probes showed a signal on the entire add (4) chromosome and loss of the 4p subtelomere region, respectively. Additional analysis using microsatellite markers for chromosome 4 and whole-genome array comparative genomic hybridization (array-CGH) identified a duplication of the region 4p13 4p16.3. Her karyotype was thus interpreted as an inverted duplication with terminal deletion of 4p: 46,XX,der(4)(:p13 p16.3::p16.3 qter). The clinical features of our patient differed from those typically observed in Wolf-Hirschhorn syndrome and were more compatible with duplication 4(p14 p16.3), with ...
Cooper and Hirschhorn first documented Wolf-Hirschhorn syndrome in 1961. They described a child with midline fusion defects, and subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4.
Wolf-Hirschhorn syndrome is a rare genetic condition caused when part of chromosome 4 is deleted during a babys development. Find out if it can be prevented and treated.
Epigenetic Gene expression and Chromatin dynamics in Facioscapulohumeral Muscular Dystrophy (FSHD). Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating genetic condition manifest by weakness of facial and upper extremity musculature that presents in the 2nd decade of life. The causative genetic event is a contraction of a subtelomeric array of repeated 3.3 kb sequence units residing on one of two common alleles of chromosome 4. How this array contraction translates into cellular differences that result in weakness of select muscle groups is a fascinating question that is not presently understood. Each D4Z4 repeat unit contains a large open reading frame that encodes a putative double homeodomain containing protein named DUX4 making aberrant expression, or expression of aberrant DUX4 isoforms an attractive mechanism for FSHD pathology. Our long term objectives are to understand how muscle strength is compromised as a result of molecular events initiated by these contractions. With ...
Part 1 (dose escalation, open-label) Part 1 will consist of up to 6 cohorts (A to F) of patients and will evaluate multiple ascending dose levels of ACE-083 in either the tibialis anterior (TA) or biceps brachii (BB) muscle. Patients in each cohort will be enrolled in a 4-week screening period before beginning treatment. A Safety Review Team (SRT) will meet to review data for each cohort when at least 4 patients within a cohort have completed their Day 43 visit prior to dose escalation.. Part 2 (randomized, double-blind, placebo-controlled) Prior to the initiation of Part 2, a review of safety and efficacy data from Part 1 will be conducted to determine whether cohorts for one or both muscles will be pursued in Part 2, as well as the recommended dose level for each muscle. A total of up to 40 new patients (20 patients per muscle) may be enrolled and randomized (3:2) to receive either ACE-083 (n=12) or placebo (n=8) unilaterally or bilaterally (if both sides are affected per inclusion criteria) ...
Author Summary Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary human myopathy affecting groups of skeletal muscles in the face and shoulders. Despite recent advances on the molecular cascade initiated by its main genetic cause, with identification of DUX4 as the main pathogenic agent, how this leads to the specific clinical picture is still poorly understood. Here, we investigated the role of the FAT1 protocadherin gene, located near the FSHD locus, which was repressed by DUX4 in human muscle cells. Disruption of the mouse Fat1 gene causes muscular and non-muscular phenotypes highly reminiscent of FSHD symptoms. We show that Fat1 is required in migrating muscle precursors, and that the altered muscle shapes caused by Fat1 mutations are predictive of early onset defects in muscle integrity in adult mutants, with a topography matching the map of muscles affected in FSHD. In humans, we observed FAT1 lowering in muscle but not brain of foetal cases with canonical FSHD1, and identified
Facioscapulohumeral muscular dystrophy (FSHD) patients carry contractions of the D4Z4-tandem repeat array on chromosome 4q35. Decrease in D4Z4 copy number is thought to alter a chromatin structure and activate expression of neighboring genes. D4Z4 contains a putative double-homeobox gene called DUX4 …
Facioscapulohumeral muscular dystrophy (FSHD), caused by partial deletion of the D4Z4 macrosatellite repeat on chromosome 4q, has a complex genetic and epigenetic etiology. To develop FSHD, D4Z4 contraction needs to occur on a specific genetic background. Only contractions associated with the 4qA161 haplotype cause FSHD.
Deletion of a subset of the D4Z4 macrosatellite repeats in the subtelomeric region of chromosome 4q causes facioscapulohumeral muscular dystrophy (FSHD) when occurring on a specific haplotype of 4qter (4qA161). Several genes have been examined as candidates for causing FSHD, including the DUX4 homeobox gene in the D4Z4 repeat, but none have been definitively shown to cause the disease, nor has the full extent of transcripts from the D4Z4 region been carefully characterized. Using strand-specific RT-PCR, we have identified several sense and antisense transcripts originating from the 4q D4Z4 units in wild-type and FSHD muscle cells. Consistent with prior reports, we find that the DUX4 transcript from the last (most telomeric) D4Z4 unit is polyadenylated and has two introns in its 3-prime untranslated region. In addition, we show that this transcript generates (i) small si/miRNA-sized fragments, (ii) uncapped, polyadenylated 3-prime fragments that encode the conserved C-terminal portion of DUX4 and ...
Derepression of in skeletal muscle has emerged as a likely cause of pathology in facioscapulohumeral muscular dystrophy (FSHD). Here we report on the use of ...
NSD3 antibody (Wolf-Hirschhorn syndrome candidate 1-like 1) for ICC/IF, IHC-P, WB. Anti-NSD3 pAb (GTX55733) is tested in Human, Mouse, Rat samples. 100% Ab-Assurance.
Learn more about important health issues for FSHD patients, click on the boxes below to learn about specific FSHD health conditions & symptions
If you use this products in your scientific publication, it should be cited in the publication as: Creative Bioarray cat no. If your paper has been published, please click here to submit the Pub Med ID of your paper to get a coupon. ...
Wolfram syndrome (DIDMOAD) is a rare inherited disorder that occurs due to damage to the optic nerve resulting in a worse vision over time.
Wolfram syndrome is a rare genetic condition which affects several systems at the same time thus producing a classic set of symptoms.
Stephen Wolfram demonstrates powerful features in Wolfram Mathematica 9 and Wolfram|Alpha and discusses CDF (Computable Document Format), mobile and cloud implementations.
Melzner, F. , Mark, F. C. , Bock, C. , Langenbuch, M. , Boutilier, R. G. , Claireaux, G. , Gutowska, M. , Wolfram, K. and Pörtner, H. O. (2006 ...
TY - JOUR. T1 - Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohumeral muscular dystrophy (FSHD). AU - Mills, K. A.. AU - Buetow, K. H.. AU - Xu, Y.. AU - Ritty, T. M.. AU - Mathews, K. D.. AU - Bodrug, S. E.. AU - Wijmenga, C.. AU - Balazs, I.. AU - Murray, J. C.. PY - 1992/1/1. Y1 - 1992/1/1. N2 - We have used a combination of classical RFLPs and PCR-based polymorphisms including CA repeats and single-strand conformation polymorphisms to generate a fine-structure genetic map of the distal long arm of chromosome 4q. This map is now genetically linked to the pre-existing anchor map of 4pter-4q31 and generates, for the first time, a complete linkage map of this chromosome. The map consists of 32 anchor loci placed with odds of greater than 1,000:1. The high-resolution map in the cytogenetic region surrounding 4q35 provides the order 4cen-D4S171-F11-D4S187-D4S163-D4S139-4qter. When we used somatic cell hybrids from a t(X;4)(p21;q35) translocation, ...
1: Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de Knijff P, Padberg GW, Frants RR, van der Maarel SM. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007; 81(5):884-94.. 2: Ehrlich M, Jackson K, Tsumagari K, Camaño P, Lemmers RJ. Hybridization analysis of D4Z4 repeat arrays linked to FSHD.Chromosoma 2007; 116(2):107-16.. 3: Lemmers RJ, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der MaarelSM. Somatic mosaicism in FSHD often goes undetected.Ann Neurol 2004 Jun; 55(6):845-50.. 4: Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhyaya M. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology 2003 Jul 22; 61(2):178-83.. 5: Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. Facioscapulohumeral muscular dystrophy is uniquely associated ...
TY - JOUR. T1 - Differential 3 polyadenylation of the huntington disease gene results in two mRNA species with variable tissue expression. AU - Lin, Blaoyang. AU - Rommens, Johanna M.. AU - Graham, Rona K.. AU - Kalchman, Michael. AU - Macdonald, Helen. AU - Nasir, Jamal. AU - Delaney, Allen. AU - Goldberg, Y. Paul. AU - Hayden, Michael R.. PY - 1993/10/1. Y1 - 1993/10/1. N2 - Recently a novel gene containing a CAG trinucleotide repeat that is expanded on HD chromosomes has been identified(1). This gene was shown to detect a single transcript of 10-11 kb by RNA hybridization. We have however, previously identified three cDNAs which are part of the same gene that have been shown to detect two distinct transcripts of 10 kb and one that is significantly larger(2,3). These different mRNA species could be due to use of alternate transcription start sites, alternate splicing or selection of different polyadenylation sites. We have identified cDNA clones spanning the HD gene including two (HD12 and ...
The parental origin of the de novo deleted chromosome 4 was studied in five cases of Wolf-Hirschhorn syndrome using polymorphic probes mapping in the 4p16.3 region. In all the patients the deleted chromosome was found to be of paternal origin and these results, together with similar ones obtained by another group, make the preferential paternal origin of the de novo chromosome 4 deletion highly significant.. ...
A number of histone methyltransferases have been identified and biochemically characterized, but the pathologic roles of their dysfunction in human diseases like cancer are not well understood. Here, we demonstrate that Wolf-Hirschhorn syndrome candidate 1 (WHSC1) plays important roles in human carcinogenesis. Transcriptional levels of this gene are significantly elevated in various types of cancer including bladder and lung cancers. Immunohistochemical analysis using a number of clinical tissues confirmed significant up-regulation of WHSC1 expression in bladder and lung cancer cells at the protein level. Treatment of cancer cell lines with small interfering RNA targeting WHSC1 significantly knocked down its expression and resulted in the suppression of proliferation. Cell cycle analysis by flow cytometry indicated that knockdown of WHSC1 decreased the cell population of cancer cells at the S phase while increasing that at the G(2)/M phase. WHSC1 interacts with some proteins related to the WNT pathway
Wolf-Hirschhorn syndrome answers are found in the Tabers Medical Dictionary powered by Unbound Medicine. Available for iPhone, iPad, Android, and Web.
FSHD is the third most common muscular dystrophy in man with an estimated incidence of 54 per million. Patients suffer from progressive and irreversible weakness and wasting of the facial, shoulder and upper arm muscles. Approximately 20% of gene carriers become wheelchair dependent. There is no cure for FSHD.. Scientists at LUMC, in collaboration with other academic institutions, have discovered two novel target mechanisms whereby the two forms of FSHD can arise. The mechanisms represent targets for therapeutic intervention.. In addition, cell lines and mouse models of FSHD have been developed and can be used to further research the disease and/or to screen and validate potential therapeutics.. The collaborating institutions represent world-leading expertise in the field of FSHD and can also provide ongoing expertise.. Partner companies are now sought for research collaborations in this field, and licensing of key technologies available at the institutions.. ...
The genetic lesion diagnostic for facioscapulohumeral muscular dystrophy (FSHD) results in an epigenetic misregulation of gene expression, which in turn is what ultimately leads to the disease pathology. FRG1 (FSHD region gene 1) is a leading candidate gene whose misexpression may lead to FSHD. As FSHD pathology is most prominent in the musculature, most research and therapy efforts have focused on muscle cells. However, between 50-75% of FSHD patients also exhibit retinal vasculopathy and FSHD muscle has increased levels of vascular-endothelial related transcripts, suggesting an underappreciated vascular component to the disease. Using Xenopus laevis as a model, we have shown a previously unsuspected role for FRG1 in the development of both muscular and vascular structures. Furthermore, overexpression of frg1 displays disrupted muscle and dilated and tortuous vessels, phenocopying the symptoms of FSHD patients. Thus, our work strongly supports a role for FRG1 in FSHD disease pathology ...
The goal of this study is to confirm the genetic status of Registry members with suspected FSHD. Genetic testing (DNA testing) by a blood draw can determine whether a patient has FSHD1, FSHD2, or neither. Clinical trials for FSHD often require patients to have had a genetically confirmed FSHD to participate. This study will increase the number of Registry members able to participate in future clinical trials ...
The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions. Copyright 2016 Oxbridge Solutions Ltd®. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions Ltd® receives funding from advertising but maintains editorial independence. GPnotebook stores small data files on your computer called cookies so that we can recognise you and provide you with the best service. If you do not want to receive cookies please do not use GPnotebook ...
Article originally appeared on, October 10, 2017. Resolaris (ATYR1940) improved the muscle strength of nearly two-thirds of adolescents and young adults with early-onse
Study showed that the variability in clinical severity of facioscapulohumeral muscular dystrophy in FSHD1 and FSHD2 individuals is dependent on individual differences in susceptibility to D4Z4 hypomethylation ...
Carden Wyckoff, a 24-year-old professional with facioscapulohumeral muscular dystrophy (FSHD), went on her first piggyback adventure in 2015 when her brother Spencer carried her on his back through the Reebok Spartan Sprint, a tough three-mile obstacle course. After their second Spartan race in 2016 - and after Spencer appeared on national TV on
Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic disease associated with epigenetic alterations in the subtelomeric heterochromatin of the D4Z4 macrosatellite repeat. Each repeat unit encodes DUX4, a gene that is normally silent in most tissues. Besides muscular loss, most patients suff …
In FSHD patient muscle, truncation of D4Z4 repeats does not significantly alter 4q35 localization to the heterochromatic rim. (A) Cytogenetic preparation of FSHD lymphoblastoid cells demonstrating different intensities of D4Z4 signals (green) at each 4q35 allele (red), permitting the mutant and wild-type alleles to be distinguished. (B) Both 4q35 alleles (green) in a mutant FSHD myoblast remain at the nuclear periphery depleted of hnRNA (red). (C) Localization of wild-type (arrow) and mutant (arrowhead) alleles in a FSHD myoblast using the same probes as in A. DAPI (blue) delineates the nucleus. (D) Quantitation of the localization of mutant (mut) versus wild-type (wt) allele in three FSHD myoblast cell lines (GM 17731, GM17899, and GM17869A) and in a normal myoblast line (50MB-1) before and after differentiation. 100 cells analyzed per sample. Localization of 4q35 (red) in a normal (E) and a FSHD myotube (F) with more intense D4Z4 signal (green) demarcating wild type versus weaker mutant 4q35 ...
If you are a newly diagnosed parent of a child with Wolf-Hirschhorn Syndrome, this is the place to start. This site is about people just like you.
Yale pharmacology professor Barbara Ehrlich and her team have uncovered a mechanism driving a rare, lethal disease called Wolfram Syndrome and also a potential treatment. Their findings appear in the July 6 edition of Proceedings of the National Academy of Sciences.
Stephen Wolfram introduces the Wolfram Language, with overview and demonstrations, in a video showing the power of this symbolic programming language.
Develop cloud applications, perform high-throughput data analysis or host your knowledge-based startup on Wolframs infrastructure with Wolfram Cloud.
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose of this registry is to connect people with DM or FSHD with researchers studying these diseases. The registry will offer individuals with DM and FSHD an opportunity to participate in research that focuses of their diseases. The registry will also help scientists to accomplish research on DM and FSHD and to distribute their findings to patients and care providers ...
SUMMARY Wolf-Hirschhorn syndrome (WHS) is caused by deletions in the short arm of chromosome 4 (4p) and occurs in about one per 20,000 births. Patients with WHS display a set of highly variable characteristics including craniofacial dysgenesis, mental retardation, speech problems, congenital heart defects, short stature and a variety of skeletal anomalies. Analysis of patients with 4p deletions has identified two WHS critical regions (WHSCRs); however, deletions targeting mouse WHSCRs do not recapitulate the classical WHS defects, and the genes contributing to WHS have not been conclusively established. Recently, the human FGFRL1 gene, encoding a putative fibroblast growth factor (FGF) decoy receptor, has been implicated in the craniofacial phenotype of a WHS patient. Here, we report that targeted deletion of the mouse Fgfrl1 gene recapitulates a broad array of WHS phenotypes, including abnormal craniofacial development, axial and appendicular skeletal anomalies, and congenital heart defects. ...
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: Landouzy Dejerine muscular dystrophy; Landouzy-Dejerine muscular dystrophy; Landouzy-Dejerine muscular dystrophy; Muscular dystrophy, Landouzy-Dejerine
PubMed Central Canada (PMC Canada) provides free access to a stable and permanent online digital archive of full-text, peer-reviewed health and life sciences research publications. It builds on PubMed Central (PMC), the U.S. National Institutes of Health (NIH) free digital archive of biomedical and life sciences journal literature and is a member of the broader PMC International (PMCI) network of e-repositories.
An NIH funded, Senatory Paul D. Wellstone Muscular Dystrophy Cooperative Research Center (MDCRC) has recently been established entitled Biomarkers for therapy of FSHD (facioscapulohumeral muscular dystrophy). This multi-institutional MDCRC will be directed by Charles Emerson, Ph.D. at Boston Biomedical Research Institute. The PI (in addition to having a project that is not being reviewed by the IRB at this time) is a co-director of the Centers Cell core. This core will be a national repository of muscle tissue, cells, and DNA for studies in FSHD.
We report on an 8-month-old girl with a novel unbalanced chromosomal rearrangement, consisting of a terminal deletion of 4p and a paternal duplication of terminal 11p. Each of these is associated with the well-known clinical phenotypes of Wolf-Hirschhorn syndrome (WHS) and Beckwith-Wiedemann syndrome (BWS), respectively. She presented for clinical evaluation of dysmorphic facial features, developmental delay, atrial septal defect (ASD), and left hydro-nephrosis. High-resolution cytogenetic analysis revealed a normal female karyotype, but subtelomeric fluorescence in situ hybridization (FISH) analysis revealed a der(4)t(4;11) (pter;pter). Both FISH and microarray CGH studies clearly demonstrated that the WHS critical regions 1 and 2 were deleted, and that the BWS imprinted domains (ID) 1 and 2 were duplicated on the der(4). Parental chromosome analysis revealed that the father carried a cryptic balanced t(4;11)(pter;pter). As expected, our patient manifests findings of both WHS (a growth ...
Background Facioscapulohumeral muscular dystrophy (FSHD) is associated with an epigenetic defect on 4qter. Two clinically indistinguishable forms of FSHD are known, FSHD1 and FSHD2. FSHD1 is caused by contraction of the highly polymorphic D4Z4 macrosatellite repeat array on chromosome 4q35. FSHD2 is caused by pathogenic mutations of the SMCHD1 gene.. Both genetic defects lead to D4Z4 DNA hypomethylation. In the presence of a polymorphic polyadenylation signal (PAS), DNA hypomethylation leads to inappropriate expression of the D4Z4-encoded DUX4 transcription factor in skeletal muscle. Currently, hypomethylation is not diagnostic per se because of the interference of non-pathogenic arrays and the lack of information about the presence of DUX4-PAS. ...
PubMed journal article A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 1 were found in PRIME PubMed. Download Prime PubMed App to iPhone or iPad.
Am J Med Genet A. 2013 Jul;161A(7):1759-62. doi: 10.1002/ajmg.a.35966. Epub 2013 May 21. Case Reports; Research Support, Non-U.S. Govt
Health,Boston MA (PRWEB) January 24 2013 Facioscapulohumeral muscular dystrophy (FSHD) is a disease most people have never heard of even though it is one of the most common forms of muscular dystrophy. Having a name that is daunting to pronounce and spell doesnt help. But being an
Summary: DUX4 underlies pathogenesis in facioscapulohumeral muscular dystrophy. DUX4 acts mainly as a transcriptional activator that inhibits myogenesis by orchestrating a gene expression profile representative of a more stem-cell-like state. ...
Labeled FISH probes for identification of subtelomere aberrations using Fluorescent In Situ Hybridization Technique. (Technology) (FE0030) - Products - Abnova
The DUX4 region contains tandem arrays of a 3.3 Kb D4Z4 macrosatellite repeat located in the sub-telomeric region of chromosome 4q. The number of D4Z4 repeats is highly polymorphic, ranging from 8 to 100 copies in the healthy individuals, but only 1 to 10 units in individuals with Facioscapulohumeral muscular dystrophy-1 (FSHD1: MIM#158900). The contraction of the repeat arrays is believed to result in a decreased epigenetic repression effect of D4Z4 and subsequent transcriptional activation of the DUX4 gene. Three main haplotypes, known as 4qA, 4qB and 4qA-L, have been reported for this region (1-3). The 4qB haplotype has homology to 4qA in the D4Z4 repeats, but is completely different in the distal region (1,2). 4qA, considered the reference haplotype, is the ancestral and most common haplotype. 4qA and 4qA-L are associated with FSHD, while 4qB is not (2). The different haplotypes exhibit population stratification (3 ...
The DUX4 region contains tandem arrays of a 3.3 Kb D4Z4 macrosatellite repeat located in the sub-telomeric region of chromosome 4q. The number of D4Z4 repeats is highly polymorphic, ranging from 8 to 100 copies in the healthy individuals, but only 1 to 10 units in individuals with Facioscapulohumeral muscular dystrophy-1 (FSHD1: MIM#158900). The contraction of the repeat arrays is believed to result in a decreased epigenetic repression effect of D4Z4 and subsequent transcriptional activation of the DUX4 gene. Three main haplotypes, known as 4qA, 4qB and 4qA-L, have been reported for this region (1-3). The 4qB haplotype has homology to 4qA in the D4Z4 repeats, but is completely different in the distal region (1,2). 4qA, considered the reference haplotype, is the ancestral and most common haplotype. 4qA and 4qA-L are associated with FSHD, while 4qB is not (2). The different haplotypes exhibit population stratification (3 ...
A relatively new technology called exome sequencing has identified a few families with novel mutations in their HD genes. These are different than the mutation that causes HD, but allow researchers to better understand the normal role of the HD gene.Normal HD gene functionThe mutation that causes HD instructs brain…
Fonseca, S.G., Ishigaki, S., Oslowski, C.M, Lu, S., Lipson, K.L., Ghosh, R., Hayashi, E., Ishihara, H., Oka, Y., Permutt, M.A., and Urano, F.; Journal of Clinical Invesigation, 120(3): 744-55, 2010.
Researchers project to devise a system to generate a plain English description of a time-series comes to fruition in Wolfram|Alpha Pro.
View Conrad Wolframs talk on whats wrong with math education and how to fix it. Central to his argument is that calculating should be computer based.
Download Wolfram alpha pro code free, WolframAlpha is more than a search engine. It gives you access to the world's facts and data and calculates answers across a range of topics, including science.
Stephen Wolfram on using a symbolic discourse language to create legal contracts and even constitutions that are smart, computational, and unambiguous, and work for both humans and AIs.
Kit Component:- KN206868G1, HHIP gRNA vector 1 in pCas-Guide vector- KN206868G2, HHIP gRNA vector 2 in pCas-Guide vector- KN206868D, donor vector…
As an HR leader, are you addressing employees HR and WHS concerns? From employee data to benefits trends, learn more about improving industrial relations
There was this one problem from that class that I want to try my initial method again: using $\mathbf{E}$, $\mathbf{B}$, and $\mathbf{E} \times \mathbf{B}$ for circularly polarized light as the coordinate system youre working in. Didnt have time to work out the effect on the derivatives or the integrals at the time, so I had to put it aside. But, it gave me interesting results before that point ...
Transmembrane protein 155 is a protein that in humans is encoded by the TMEM155 gene. It is located on human chromosome 4, ... This gene spans from base pairs 121,758,930 and 121,765,427 on chromosome 4. The longest variant ofTMEM155 has 5 exons detailed ... TMEM155 is located on the minus strand of human chromosome 4 (4q27) and spans 13,611 base pairs. Cytogenetic band: 4q27 TMEM155 ... August 2017). "The transcriptome of human oocytes is related to age and ovarian reserve". Molecular Human Reproduction. 23 (8 ...
"C2orf81 chromosome 2 open reading frame 81 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2018-05-06. ... The mRNA sequence contains and 2086 base pairs and 4 isoforms. C2orf81 has a molecular weight of 66.6 kDa and its isoelectric ... In human c2orf81, phosphorylation is expected to be undergone only in serines, but not in any threonines or tyrosines. O-linked ... C2orf81 is a human gene encoding protein c2orf81, which is predicted to have nuclear localization. C2orf81's aliases are ...
TVP23A is located on chromosome 16. It is known to have human paralogs, TVP23B and TVP23C, as well as orthologs in many ... The promoter for TVP23A is GXP_91266, spanning 1403 base pairs located on the negative strand of chromosome 16. The ... giving rise to TVP23A on chromosome 16 and TVP23B/C on chromosome 17, which then underwent a second duplication to form TVP23B ... There are two known isoforms of TVP23A, variant one and variant two, with variant one being the more common variant in humans. ...
... in humans on the forward strand sense, it starts at base pair 38869354 and ends at 38947365. Its mRNA has 4138 bp. The gene has ... FAM114A1 is located on the short arm of Chromosome 4 (4.p14) ... However, as expected, human FAM114A! is more like that of ... There is not proof of any interactions that the FAM114A1 protein has with other proteins in the human body. However, an ... Protein FAM114A1 also known as nervous system overexpressed protein 20 (NOXP20) is a protein that in humans is encoded by the ...
... is located on the minus strand of the first chromosome at 1p36.13. The gene consists of 118,172 base pairs stretching ... human)] - Gene - NCBI". Retrieved 2017-05-06. Database, GeneCards Human Gene. "TMCO4 Gene - GeneCards , ... The most common variant is X1, which includes all exons and spans the entire 118,172 base pairs. The most common protein ... "AceView: Gene:TMCO4, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". ...
Nuclear DNA in a human consists of 22 pairs of autosomes and two sex chromosomes. The 22 pairs of autosomes are derived half ... Evolution & Human Behavior 24: 99-112. Full text. *Knight, C. 2008. Early human kinship was matrilineal. In N. J. Allen, H. ... Early human kinship was matrilineal. In N. J. Allen, H. Callan, R. Dunbar and W. James (eds.), Early Human Kinship. Oxford: ... "Hierarchical patterns of global human Y-chromosome diversity". Mol Biol Evol. 18 (7): 1189-203. doi:10.1093/oxfordjournals. ...
... whereas all the other pairs of chromosomes replicate in the same temporal pattern. It was also noticed by Mary Lyon [9] that ... A diagrammatic representation of replication timing in a 70-Mb segment of human chromosome 2. The red horizontal line ... Replication timing and chromosome structure[edit]. Figure 5. Nucleus of a female amniotic fluid cell. Top: Both X-chromosome ... Chromosome Res 18: 115-125. *^ Taylor JH (1960) Asynchronous duplication of chromosomes in cultured cells of Chinese hamster. J ...
The X chromosome in humans spans more than 153 million base pairs (the building material of DNA). It represents about 800 ... "Chromosome X: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome X: ... Since the father retains his X chromosome from his mother, a human female has one X chromosome from her paternal grandmother ( ... Each person usually has one pair of sex chromosomes in each cell. Females typically have two X chromosomes, whereas males ...
... a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ ... Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene. This gene is a member of the paired box (PAX ... 1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes". EMBO J. 8 (4): 1183-90 ... 2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. doi:10.1038/414865a. ...
As the pair of chromosomes separate, each gamete only receives one of each factor. This Mendel called the Law of segregation. * ... Later, geneticists discovered that his laws were also true for other living things, even humans. Mendel's findings from his ... Of each pair of chromosomes, a gamete only gets one.. The factors (genes) determine the organism's traits, and are inherited ... When the chromosome pairs are separated in a gamete, they are randomly segregated. A gamete might have any proportion from 100 ...
Human females are typically XX; males are typically XY. The remaining pairs of chromosome are found in both sexes and are ... In humans and other mammal species, sex is determined by two sex chromosomes called the X chromosome and the Y chromosome. ... Most animals and some plants have paired chromosomes, and are described as diploid. They have two versions of each chromosome, ... Each chromosome of a matching (homologous) pair is structurally similar to the other, and has a very similar DNA sequence (loci ...
... either the other in a chromosomal pair, or on a different chromosome from a separate chromosome pair. An example of this is a ... In human cells with more than one X chromosome, two long non-coding RNAs are produced: Tsix is produced by one X chromosome, ... from a different chromosomal pair. Hox genes are genes in humans that regulate body plan development. Humans have four sets of ... In female humans, Barr bodies are defined as the condensed and inactivated X-chromosome that is found in every cell of the ...
The chapters are numbered for the pairs of human chromosomes, one pair being the X and Y sex chromosomes, so the numbering goes ... The book devotes one chapter to each pair of human chromosomes. Since one (unnumbered) chapter is required to discuss the sex ... the chapters matching the 23 pairs of human chromosomes, and notes that Genome is the third of Ridley's books that "tries to ... The impact of stress on the human body is described starting with the creation of hormones by the CYP17 gene on chromosome 10. ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 16.. The following is a partial list of genes on human chromosome 16. For complete ... "Chromosome 16". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 16". Human Genome Project Information Archive ... Human chromosome 16 pair after G-banding.. One is from mother, one is from father. ...
... is one of the 23 pairs of chromosomes in humans. Chromosome 20 spans around 63 million base pairs (the building ... See also: Category:Genes on human chromosome 20.. The following is a partial list of genes on human chromosome 20. For complete ... "Chromosome 20". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 20". Human Genome Project Information Archive ... Human chromosome 20 pair after G-banding.. One is from mother, one is from father. ...
It has only four pairs of chromosomes - three autosomes, and one pair of sex chromosomes. ... Similarity to humans[edit]. A March 2000 study by National Human Genome Research Institute comparing the fruit fly and human ... Drosophila flies have both X and Y chromosomes, as well as autosomes. Unlike humans, the Y chromosome does not confer maleness ... contains four pairs of chromosomes - an X/Y pair, and three autosomes labeled 2, 3, and 4. The fourth chromosome is so tiny, it ...
Paired box protein Pax-6, also known as aniridia type II protein (AN2) or oculorhombin, is a protein that in humans is encoded ... van Heyningen V, Little PF (1995). "Report of the fourth international workshop on human chromosome 11 mapping 1994". Cytogenet ... The characteristic paired DNA binding domain of Pax6 utilizes two DNA-binding domains, the paired domain (PD), and the paired- ... 6pax: CRYSTAL STRUCTURE OF THE HUMAN PAX-6 PAIRED DOMAIN-DNA COMPLEX REVEALS A GENERAL MODEL FOR PAX PROTEIN-DNA INTERACTIONS ...
Isoform 1 of TEX9 has a 5' UTR region of 27 base pairs and a 3' UTR region of 356 base pairs. The transcript is 1,559 base ... "TEX9 - Antibodies - The Human Protein Atlas". Retrieved 2019-05-05. "COILS Server". ... TEX9 has been experimentally determined to have interactions including coiled-coil containing 112 (CCDC112), chromosome 20 open ... Testis-expressed protein 9 is a protein that in humans is encoded the TEX9 gene. TEX9 that encodes a 391-long amino acid ...
2004). „) A census of human cancer genes. Nat Rev Cancer. 4:177-183. doi: 10.1038/nrc1299".. Mentenanță CS1: Nume multiple: ... Ye CJ, Liu G, Bremer SW, Heng HHQ (2007). „The dynamics of cancer chromosomes and genomes. Cytogenet Genome Res. 118 (2-4): 237 ... 2010). „The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature 465 (7297): 473-7. doi: ... 2007). „Patterns of somatic mutation in human cancer genomes. Nature, 446(7132): 153-158".. Mentenanță CS1: Nume multiple: ...
Human leukocyte antigen (HLA) B27 (subtypes B*2701-2759) is a class I surface antigen encoded by the B locus in the major ... Diseases associated with the HLA-B27 subtype can be remembered with the mnemonic PAIR, and include Psoriasis, Ankylosing ... histocompatibility complex (MHC) on chromosome 6 and presents antigenic peptides (derived from self and non-self antigens) to T ... For example, about 8% of Caucasians, 4% of North Africans, 2-9% of Chinese, and 0.1-0.5% of persons of Japanese descent possess ...
There are 46 chromosomes in a human, 23 pairs. Everyone has a set of chromosomes from their father and a matching set from ... They include a pair of sex chromosomes. The mother's eggs always contain an X chromosome, while the father's sperm contains ... Chromosomes come in pairs: one set from the mother; the other set from the father. Cytologists label chromosomes with numbers.[ ... Polytene chromosomes are over-sized chromosomes which have developed from standard chromosomes. Specialized cells undergo ...
... is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome, as they ... "Chromosome 9: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 9: ... Gilbert F, Kauff N (2001). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 9". Genet Test. 5 (2): ... "Chromosome 9". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 9". Human Genome Project Information Archive 1990- ...
G-banding ideogram of human chromosome 1 in resolution 850 bphs. Band length in this diagram is proportional to base-pair ... Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all ... See also: Category:Genes on human chromosome 1.. The following is a partial list of genes on human chromosome 1. For complete ... Wikimedia Commons has media related to Human chromosome 1.. *. National Institutes of Health. "Chromosome 1". Genetics Home ...
For example, in the human genome, which has a 42% GC content, a pair of nucleotides consisting of cytosine followed by guanine ... Based on an extensive search on the complete sequences of human chromosomes 21 and 22, DNA regions greater than 500 bp were ... Takai D, Jones PA (2002). "Comprehensive analysis of CpG islands in human chromosomes 21 and 22". Proc Natl Acad Sci USA. 99 (6 ... International Human Genome Sequencing Consortium (2001-02-15). "Initial sequencing and analysis of the human genome". Nature. ...
Y-chromosome haplotypes and implications for human history in the Pacific". Human Mutation. 17 (4): 271-80. doi:10.1002/humu.23 ... "Y-chromosome diversity is inversely associated with language affiliation in paired Austronesian- and Papuan-speaking ... "Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human Populations from West New Guinea". The American Journal of ... and East Indonesia by human Y-chromosome DNA haplogroups based on relevant studies. Oceania Languages of Oceania Demographics ...
... on human chromosome 6 has paralogy regions on chromosomes 1, 9 and 19. Much of the human genome seems to be assignable to ... In allopolyploids, the homologous chromosomes within each parental sub-genome should pair faithfully during meiosis, leading to ... Well-studied sets of paralogy regions include regions of human chromosome 2, 7, 12 and 17 containing Hox gene clusters, ... Homoeologous (also spelled homeologous) chromosomes or parts of chromosomes are those brought together following inter-species ...
... of human genes are bidirectionally paired.[14]. Bidirectionally paired genes in the Gene Ontology database shared at least one ... "Gene promoters show chromosome-specificity and reveal chromosome territories in humans". BMC Genomics. 14 (278): 278. doi: ... in humans, promoters show certain structural features characteristic for each chromosome.[4] ... CpG islands are generally 200 to 2000 base pairs long, have a C:G base pair content ,50%, and have regions of DNA where a ...
For example, in humans, somatic cells contain 46 chromosomes organized into 23 pairs. By contrast, gametes of diploid organisms ... Due to the fusion of the two gametes, a human zygote contains 46 chromosomes (i.e. 23 pairs). ... Like all cells, somatic cells contain DNA arranged in chromosomes. If a somatic cell contains chromosomes arranged in pairs, it ... The gametes of diploid organisms contain only single unpaired chromosomes and are called haploid.) Each pair of chromosomes ...
The BTD gene is located on the short (p) arm of chromosome 3 at position 25, from base pair 15,618,326 to base pair 15,662,328 ... The human body cannot produce biotin, but it can obtain it from the diet, internal recycling and at some extent from intestinal ... Biotinidase (EC, amidohydrolase biotinidase, BTD) is an enzyme that in humans is encoded by the BTD gene. The enzyme ... Human Mutation. 31 (9): 983-91. doi:10.1002/humu.21303. PMID 20556795. S2CID 26622938. Dobrowolski SF, Angeletti J, Banas RA, ...
As in humans, where about 20,000 inactivated Tc1/mariner-type transposons comprise almost 3% of the human genome, the ... The consensus transposon has IRs of 231 base pairs. The innermost DRs are 29 base pairs long whereas the outermost DRs are 31 ... The insertion site can be elsewhere in the same DNA molecule, or in another DNA molecule (or chromosome). In mammalian genomes ... The paired subdomains in SB transposase were designated PAI and RED. The PAI subdomain plays a dominant role in recognition of ...
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. ...
They are usually found in pairs (diplococci) and do not form spores and are nonmotile.[2] As a significant human pathogenic ... For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... The genome of S. pneumoniae is a closed, circular DNA structure that contains between 2.0 and 2.1 million base pairs depending ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ...
When adenine is deaminated, it becomes hypoxanthine, which can pair with cytosine. During replication, the cytosine will pair ... It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA).[21] ... Hypoxanthine can bind to cytosine, and when the XC base pair is ... Chloroplast DNAs are circular, and are typically 120,000-170,000 base pairs long.[4][7][8] They can have a contour length of ...
... except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes ... For organisms in which the male is heterogametic, such as humans, almost all X-linked genes are hemizygous in males with normal ... chromosomes because they have only one X chromosome and few of the same genes are on the Y chromosome. Transgenic mice ... A chromosome in a diploid organism is hemizygous when only one copy is present.[2] The cell or organism is called a hemizygote ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene.[5] Presenilin-1 is one of the four ... Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH (September 2002). "Presenilin couples the paired ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ...
... genome of MAP strain K-10 was sequenced in 2005 and found to consist of a single circular chromosome of 4,829,781 base pairs, ... It has long been suspected as a causative agent in Crohn's disease in humans,[4][5] but studies have been unable to show ... Recent studies have shown that MAP present in milk can survive pasteurization, which has raised human health concerns due to ... It is the causative agent of Johne's disease, which affects ruminants such as cattle, and suspected causative agent in human ...
Sigurdsson S, Van Komen S, Petukhova G, Sung P (Nov 2002). "Homologous DNA pairing by human recombination factors Rad51 and ... condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... It is of uncertain origin[1]:160 and widely cultivated as a crop for human consumption. It is also used as a cover crop, the ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... might frown on human consumption. But in Liguria, a maritime region near northern Italy, fava beans are loved raw, and consumed ...
... even though the fox genome has 16 pairs of metacentric autosomes and the dog has 37 pairs of acrocentric autosomes.[10] ... These were foxes that were eager to have human contact. By the 10th generation 18 percent of fox pups were in this "elite" ... Using 320 microsatellites Trut and co-workers showed that all 16 fox autosomes and one X chromosome were covered, and that ...
... usually have a single circular chromosome,[129] with as many as 5,751,492 base pairs in Methanosarcina acetivorans,[130 ... making up about one in ten of all the prokaryotes in the human gut.[197] In termites and in humans, these methanogens may in ... Circular chromosomes, similar translation and transcription to Eukarya. Circular chromosomes, unique translation and ... after the cell's chromosome is replicated and the two daughter chromosomes separate, the cell divides.[154] In the genus ...
... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... 85 (4): 435-43. doi:10.1139/o07-057. PMID 17713579.. *^ a b c d e f g h Barski A, Cuddapah S, Cui K, Roh TY, Schones DE, Wang Z ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ...
Genetically, there are 74 diploid chromosomes (36 pairs). Appearance[edit]. The crab-eating fox is predominantly greyish-brown ... its habitat is slowly shrinking due to human activity such as agriculture, as well as feral dogs' encroachment on its territory ... The adult female gives birth to one or two litters per year, and the breeding pair is monogamous. The pair ranges the plains ... It either hunts individually or lives in pairs; it eats crabs, lizards and different flying animals. It is easy to domesticate ...
Likewise, gray wolf Y-chromosomes have also been found in a few individual male Texan coyotes.[11] This study suggested that ... By late 2012, it was estimated that there were at least 75 wolves and four breeding pairs living in the recovery areas, with 27 ... The Mexican wolf persisted longer in Mexico, as human settlement, ranching and predator removal came later than in the ... A pair of Mexican wolves with pups at Sevilleta Wolf Management Facility in Socorro, New Mexico ...
Pu'er with chrysanthemum is the most common pairing, and referred as guk pou or guk bou (菊普; Cantonese Yale: guk1 pou2; pinyin ... Larger specimens of this shape are sometimes called "human-head tea" (人頭茶), due in part to its size and shape, and because in ... This notion has recently been refuted through a systematic chromosome analysis of the species attributed to many East Asian ... Wild trees (gŭshù, 古树; literally "old tree"): Teas from old wild trees, grown without human intervention, are the highest ...
Crosland, M.W.J., Crozier, R.H. Myrmecia pilosula, an ant with only one pair of chromosomes. Science. 1986, 231 (4743): 1278. ... Ijdo, J. W., Baldini, A., Ward, D. C., Reeders, S. T., & Wells, R. A. Origin of human chromosome 2: an ancestral telomere- ... 選擇可以作用在基因而非個體的層級,即使降低個體的適應度,自私DNA仍然可以演化,造成基因組內部衝突。例子包括跳躍子、減數分裂驅動者(meiotic drivers)、殺手X染色體(killer X chromosomes)、自私粒線體(
Genes on human chromosome 11. *Genes on human chromosome 14. *Genes on human chromosome 20 ... In 1943, with the help of Arda Green, the pair illustrated that glycogen phosphorylase existed in either the a or b forms ... The cloning of the human liver glycogen phosphorylase (HLGP) revealed a new allosteric binding site near the subunit interface ... 62 (4): 785-91. doi:10.1086/301790. PMC 1377030 . PMID 9529348.. *^ Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker ...
This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.. *v ... "Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for ... "AIDS Research and Human Retroviruses. 6 (3): 371-80. doi:10.1089/aid.1990.6.371. PMID 2187500.. ... Human GAA genome location and GAA gene details page in the UCSC Genome Browser. ...
HumansEdit. Humans are bilaterals and deuterostomes. In humans, the term embryo refers to the ball of dividing cells from the ... Pair-rule genes define 7 segments of the embryo within the confines of the second broad segment that was defined by the gap ... Thus, a fly whose chromosomes are mutant in both copies of the Bicoid gene but who is born from a mother carrying one normal ... As of today, human embryology is taught as a cornerstone subject in medical schools, as well as in biology and zoology programs ...
Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ... "hMSH4-hMSH5 recognizes Holliday Junctions and forms a meiosis-specific sliding clamp that embraces homologous chromosomes". ... Her C, Wu X, Griswold MD, Zhou F (Feb 2003). "Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor ... Räschle M, Dufner P, Marra G, Jiricny J (Jun 2002). "Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha ...
"A Y Chromosome Census of the British Isles" (PDF).. *^ Härke, Heinrich; Thomas, Mark G; Stumpf, Michael P H. "Integration ... ... The Acts of Union between the Kingdom of England and the Kingdom of Scotland were a pair of Parliamentary Acts passed by both ... "Y Chromosome Evidence for Anglo-Saxon Mass Migration".. *^ " ... Continuous human habitation in England dates to around 13,000 ...
... chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered". Proc. ... 3.2) Paired box. PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) ... to the human c-myc oncogene; presence of a long inverted repeat ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... ARX • CDX (1, 2) • CRX • CUTL1 • DBX (1, 2) • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox ...
"Final report on the human rights situation of the Roma, Sinti and travellers in Europe". The European Commissioner for Human ... "Y CHROMOSOME SINGLE NUCLEOTIDE POLYMORPHISMS TYPING BY SNaPshot MINISEQUENCING" (PDF). Retrieved 20 December 2016. ... and art present romanticized narratives of mystical powers of fortune telling or irascible or passionate temper paired with an ... European Journal of Human Genetics. 9 (2): 97-104. doi:10.1038/sj.ejhg.5200597. PMID 11313742. Archived from the original (PDF) ...
Modern Human Origins, and Complex Disease Mapping, Annual Review of Genomics and Human Genetics" (pdf). 9. Retrieved December ... In the 2003 PBS programme African American Lives, Bishop T.D. Jakes had his DNA analyzed; his Y chromosome showed[dubious - ... Igbo women were paired with Coromantee (Akan) men to subdue the men because of the belief that the women were bound to their ... Institute for the Study of Human Issues.. *^ ". Chisholm, Hugh, ed. (1911). "Ibo". Encyclopædia Britannica. 14 (11th ed.). ...
... a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187-91. doi:10.1002/humu.22468. PMID ... Position (base pair): 180. Total size (base pairs): 366. Forward 5′→ 3′: aactcttgataaaccgtgctg. Reverse 5′→ 3′: ... a b c The Y Chromosome Consortium 2008 *^ a b c d e f g Cristofaro; et al. (2013). "Afghan Hindu Kush: Where Eurasian Sub- ... 2004). "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-48. doi:10.1007/s00439-003-1031-4. ...
Previous linkage analysis of multiply affected families indicated that the gene for Wolfram syndrome is on chromosome 4p … ... Chromosomes, Human, Pair 4* * Female * Genetic Heterogeneity* * Genetic Linkage* * Genotype * Haploidy * Humans ... Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity Am J Hum Genet. 1996 Oct;59(4):855-63. ... We have investigated 12 U.K. families with Wolfram syndrome, and we report confirmation of linkage to chromosome 4p, with a ...
Chromosome Mapping * Chromosomes, Human, Pair 20* * DNA Primers * Epilepsy, Frontal Lobe / genetics* ... The gene for ADNFLE maps to chromosome 20q13.2-q13.3 in one large Australian kindred. The neuronal nicotinic acetylcholine ... A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant ... receptor alpha 4 subunit (CHRNA4) maps to the same region of 20q (ref. 12) and the gene is expressed in all layers of the ...
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. ... Human, Pair 3" by people in Harvard Catalyst Profiles by year, and whether "Chromosomes, Human, Pair 3" was a major or minor ... "Chromosomes, Human, Pair 3" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 3" by people in Profiles. ...
4)(p22.3;q11.1;q31.1) in a infertile male with oligoastenoteratozoospermia (OAT). He was the second patient with complex ... Chromosomes / ultrastructure*. Chromosomes, Human, Pair 1*. Chromosomes, Human, Pair 22*. Chromosomes, Human, Pair 4*. ... Humans. Infertility, Male / genetics*. Male. Oligospermia / genetics. Spermatogenesis. From MEDLINE®/PubMed®, a database of the ... 6885076 - A deletion of heterochromatin only of the y chromosome in an azoospermic male.. 18953646 - Cytogenetic and y ...
Bulkiest Human Sequence Packs Medical Arsenal DNA Protein Analysis Of Human Chromosome 6, Counts 166,880,988 Base Pairs, Covers ...
Chromosome Mapping*. Chromosomes, Human, Pair 4*. Genetic Markers / blood. Genome, Human. Homozygote. Humans. Lod Score. ... This maps the FSHD gene to chromosome 4. Only one family was uninformative for this marker. We found no evidence of genetic ...
Homologous Pairs of Chromosomes ,ul,,li,In diploid body cells chromosomes occur in pairs ,/li,,/ul,,ul,,li,Humans have 23 ... Changes in Chromosome a. b. pair of homologous chromosomes 2n 2n 2n + 1 2n + 1 2n + 1 2n - 1 normal normal pair of homologous ... 5. Homologous Chromosomes a. sister chromatids homologous pair chromosome chromosome Nonsister chromatids duplication ... 7. Homologous Pairs of Chromosomes ,ul,,li,Homologous chromosomes have genes controlling the same trait at the same position ,/ ...
Does Barcoding DNA Reveal a Single Human Ancestral Pair?. I dont think the study can claim all the things it does based on the ... in which they claim that there never was an original pair of humans like Adam and Eve. ... On Prejudiced Models and Human Origins. Recently Dennis Venema joined with Scot McKnight to publish a book, Adam and the Genome ... Mitochondrial Eve and Y-Chromosome Adam, and Adam and the Genome. Both evolutionists and Darwin-skeptics believe that all ...
5. Students could work independently, in pairs, threes, or fours. You can provide a Information/Worksheet packet for each team ... 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 ...
... base pairs) and represents more than 6 percent of the total DNA in cells. Learn about health implications of genetic changes. ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 4, one copy inherited from ... Ensembl Human Map View. *Goldfrank D, Schoenberger E, Gilbert F. Disease genes and chromosomes: disease maps of the human ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...
... similarity of DNA between chimp and humans is incorrect. ... Humans have 23 pairs of chromosomes while chimpanzees have 24. ... While 18 pairs of chromosomes are virtually identical, chromosomes 4, 9 and 12 show evidence of being remodeled.5 In other ... Evolutionary scientists believe that one of the human chromosomes has been formed through the fusion of two small chromosomes ... The Y chromosome in particular is of a different size and has many markers that do not line up between the human and chimpanzee ...
Chromosomes, Human, Pair None. *Polymerase Chain Reaction. *Chronic Lymphocytic Leukemia. *Antigens, CD1d ... The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to ... Human papillomavirus type 16 was one of the common human papillomavirus types in all cases.. CONCLUSIONS: Cervical tumor LCs ... Using human ovarian surface epithelium, we cloned two new splice variants of the human follicle-stimulating hormone receptor ( ...
Humans have 23 pairs of chromosomes, or a total of 46. A donkey has 31 pairs of chromosomes, a hedgehog has 44, and a fruit fly ... A female inherits an X chromosome from each parent, but a male inherits an X chromosome from their mother and a Y chromosome ... Long strands of DNA with lots of genes make up chromosomes. DNA molecules are found in chromosomes. Chromosomes are located ... It aims to determine the sequence of the chemical pairs that make up human DNA and to identify and map the 20,000 to 25,000 or ...
... human organ systems, botany, zoology and other topics ... There are 23 pairs of chromosomes in each human cell.. 6. The ... 5. The number of chromosomes in a human cell is _______.. 2 4 23 46. Answer: Answer: 46. ... During the anaphase, longitudinal splitting of the chromosomes occurs.. 14. The interphase and mitosis together constitute the ... The nuclear membrane is formed around the newly-formed sets of daughter chromosomes during the telophase.. True. False Answer: ...
B) Amplified view of chromosome 4 region. SVs in NA18505 are indicated with dashed lines (validation: squares); NA15510, dotted ... Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome. By Jan O. Korbel, Alexander Eckehart Urban, ... Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome. By Jan O. Korbel, Alexander Eckehart Urban, ... Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome Message Subject. (Your Name) has forwarded a page ...
... of the DNA in the human genome and contains around 1000 to 1100 genes, some of which have been linked to human disease. ... This chromosome represents around 6% to 6.5% of the DNA in the human genome and contains around 1000 to 1100 genes. ... Cancers related to chromosome 4. The PDGFRA gene is found on chromosome 4. Deletion of a part of chromosome 4 resulting in the ... Chromosome 4 is the fourth largest of the 23 pairs of chromosomes in humans. Chromosome 4 spans about 191 million base pairs, ...
... evolutionists claim that two chimp chromosomes fused to become one, but the power of the evolutionary paradigm trumps other ... Humans have 23 chromosome pairs, as we inherit 23 chromosomes from our father and 23 from our mother. Chimps inherit 24 ... Two pairs of human chromosomes had been found to be fused, he said, providing clear evidence of our shared ancestry with apes.3 ... If humans had been found to have 24 chromosome pairs, this would have been understood as evidence for common ancestry with apes ...
1 of 4 of my cell cycle unit. Image Credits: Biology (Campbell) 9th edition, copyright Pearson 2011, & The Internet. Provided ... 1 copy of every chromosome (n). 2 copies of every chromosome (2n). Human cells have 23 pairs of chromosomes. How many ... Most eukaryotic cells have 2 copies of every chromosome.. They form in attached, identical pairs.. Chromatid: 1 member of the ... Chromosomes begin to migrate to cell equator.. 2 complete spindles at cell poles.. Chromosomes are at metaphase plate.. Spindle ...
Humans have forty-six chromosomes, arranged in twenty-three pairs. But human egg and sperm cells only have twenty-three ... For example, most cells of fruit flies have eight chromosomes, arranged as four similar pairs. But the egg or sperm cells of a ... Paragraphs 4 to 9:. For the complete story with questions: click here for printable. Weekly Reading Books Create Weekly Reading ... Cells formed through meiosis have only half the number of chromosomes or genetic material of the parent cell. ...
Study The Human Genome and Karyotype flashcards from Joel Glotfelty ... Characterized as having a normal number of chromosomes: 22 pairs of autosomes and one pair of sex chromosomes ... How many base pairs of DNA do humans have in each somatic cell of our bodies? ... associated with chromosomes. It is inherited solely from the mother in humans ...
Sex chromosomes X and Y are the 23rd pair in humans. There are two Xs in females but only a single X in males, whereas the ... Chromosomes differ in their sizes. The smallest human chromosome is chromosome 21 (50 Mb) and the largest one is chromosome 1 ( ... Despite morphological dissimilarity, human sex chromosomes pair also in male meiosis and a single obligatory recombination ... Number of chromosome pairs: humans 23; gorilla 24; cattle 30; dog 39; mouse 20; goldfish 47; tobacco plants 24; peas 7; ...
... called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5. ... Chromosomes, Human, 4-5: The large, submetacentric human chromosomes, ...
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 4, one copy inherited from ... Ensembl Human Map View. *Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434( ... Ensembl Human Map View. *. Goldfrank D, Schoenberger E, Gilbert F. Disease genes and chromosomes: disease maps of the human ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...
This number was less than expected, leading the researchers to believe human evolution happens more slowly than p... ... Each parent contributes 23 chromosomes, and which chromosome gets contributed is random. The chances of any two children all ... The Average Human Has 60 New Genetic Mutations 246 Posted by samzenpus on Friday June 17, 2011 @11:49AM. from the magnetic- ... Just because that is the way the human brain likes to work doesnt mean that its a universal truth. Species do not exist as a ...
TVP23A is located on chromosome 16. It is known to have human paralogs, TVP23B and TVP23C, as well as orthologs in many ... The promoter for TVP23A is GXP_91266, spanning 1403 base pairs located on the negative strand of chromosome 16. The ... giving rise to TVP23A on chromosome 16 and TVP23B/C on chromosome 17, which then underwent a second duplication to form TVP23B ... There are two known isoforms of TVP23A, variant one and variant two, with variant one being the more common variant in humans. ...
... whereas all the other pairs of chromosomes replicate in the same temporal pattern. It was also noticed by Mary Lyon [9] that ... A diagrammatic representation of replication timing in a 70-Mb segment of human chromosome 2. The red horizontal line ... Replication timing and chromosome structure[edit]. Figure 5. Nucleus of a female amniotic fluid cell. Top: Both X-chromosome ... Chromosome Res 18: 115-125. *^ Taylor JH (1960) Asynchronous duplication of chromosomes in cultured cells of Chinese hamster. J ...
A chromosome consists of millions of base pairs, some of which are called genes. In humans, a single gene may be on average ... Chapter 3 & 4. 1546 Words , 7 Pages. *. Factors Of The Force Reduction Factor From The Statistical Analysis Of 15 Western Usa ... CHAPTER 4 RESULT AND DISCUSSION 4.1 Introduction In this chapter, the result and analysis of all case studies indicated in the ... Chapter 3 & 4. 1546 Words , 7 Pages. Chapter 3 #2 - When is a companys competitive advantage most likely to endure over time? ...
The Y chromosome provides a male sex to the human embryo and is inherited from the father, it is also considerably shorter than ... In this article we will have a closer look at the Y chromosome; what we currently know about the male chromosome and what the ... The Y chromosome is one of the sex chromosomes that is involved in sex determination. ... Humans have 23 pairs of chromosomes which contain all information required for the creation of an offspring. Out of the 23 ...
Humans have 46 chromosomes come is 23 pairs. The protein helps keep the ... Each chromosome already contains two chromatids Homologous chromosomes pair up so that maternal and paternal chromo ... 10.1.1 Prophase 1 Chromosome become more visible because become shorter and coil up. ... Biology Topics 4 and 10 4.1.1 Eukaryotic chromosomes are made of DNA and proteins. The DNA is linear and has histones around it ...
chromosomes, human, pair 3 (4) * dna (4) * body tissue (3) * genes (3) ... Accessibility to and Quality of Human Eye Tissue for Research: A Cross-Sectional Survey of ARVO Members PDF ...
  • TMEM155 is located on the minus strand of human chromosome 4 (4q27) and spans 13,611 base pairs. (
  • Chromosome 4 spans about 191 million DNA building blocks (base pairs) and represents more than 6 percent of the total DNA in cells. (
  • The D4Z4 region consists of 11 to more than 100 repeated segments, each of which is about 3,300 DNA base pairs (3.3 kb) long. (
  • A gene is a tiny section of a long DNA double helix molecule, which consists of a linear sequence of base pairs. (
  • Chimpanzees and other apes have about 23 kilobases (a kilobase is 1,000 base pairs of DNA) of repeats. (
  • 1000 base pairs long. (
  • Surprisingly, the indels added an additional 3.4 % of base pairs that were different. (
  • Chromosome 4 spans about 191 million base pairs, the building blocks of DNA, which are tightly packed and supercoiled to form the DNA's helical structure. (
  • How many base pairs of DNA do humans have in each somatic cell of our bodies? (
  • Physical (kbp, Mbp) distance is the number of base pairs between two loci but genomic distance (cM) is the recombination fraction between two loci. (
  • The promoter for TVP23A is GXP_91266, spanning 1403 base pairs located on the negative strand of chromosome 16. (
  • The Y chromosome is made up of some 58 million base pairs and more than 95% of it is male specific. (
  • Figure 4 shows an example of such a profile across 70,000,000 base pairs of human Chromosome 2. (
  • A chromosome consists of millions of base pairs, some of which are called genes. (
  • In humans, a single gene may be on average around 10 to 50 thousand base pairs long. (
  • As I learned from an article that was sent to me by Peter F., all the difference may boil down to 117 base pairs on the 20th chromosome. (
  • Recall that all the information needed to create and run an organism is digitally stored in the DNA molecule, a sequence of base pairs. (
  • In total, they carry a few gigabytes of genetic information (3.08 billion base pairs or 6.16 billion bits), not far from an operating system. (
  • The researchers have previously looked for active genes - shorter sequences of base pairs that play some role (not just junk DNA) - and they have found essentially one solution: the MIR 941-1 gene (it also produces equally named MicroRNA molecules in all our, eukaryotic cells). (
  • These 117 base pairs (it's not an accident that the number is a multiple of three! (
  • But these 117 base pairs are 234 bits or 29.25 bytes of information only. (
  • The profile or position-weight matrix ( 7 - 9 ), in which variation is modeled at each position in the binding site, independently of the neighboring base pairs, is more widely applicable. (
  • The blackened boxes indicate base pairs that are identical in all three species. (
  • 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. (
  • 5'-Flanking regions of human and mouse IL-4 genes share about 85% homology extending more than 500 base pairs upstream of a "TATA" like sequence. (
  • Chromosome 13 spans about 113 million base pairs (the building material of DNA ) and represents between 3.5 and 4 % of the total DNA in cells . (
  • The draft human genome sequence (about 3 billion base pairs) was completed in 2001. (
  • Here we present approximately 237 million base pairs of sequence for chromosome 2, and 186 million base pairs for chromosome 4, representing more than 99.6% of their euchromatic sequences. (
  • The human trpa1 gene is in chromosome 8q13 and consists of 27 exons and spans 55,701 base pairs. (
  • Human telomeres are programmed to lose ∼100 base pairs (bp) per population doubling (PD), resulting in senescence after ∼50 PDs ( 2-4 ). (
  • Recently Dennis Venema joined with Scot McKnight to publish a book, Adam and the Genome , in which they claim that there never was an original pair of humans like Adam and Eve. (
  • This chromosome represents around 6% to 6.5% of the DNA in the human genome and contains around 1000 to 1100 genes. (
  • The human genome contains five CD1 family genes organized in a cluster on chromosome 1. (
  • We introduce high-throughput and massive paired-end mapping (PEM), a large-scale genome-sequencing method to identify structural variants (SVs) ∼3 kilobases (kb) or larger that combines the rescue and capture of paired ends of 3-kb fragments, massive 454 sequencing, and a computational approach to map DNA reads onto a reference genome. (
  • 50 kb) of the human genome was recently found to be widespread in healthy individuals ( 1 - 4 ), with ∼4000 affected genomic loci currently listed in the Database of Genomic Variants (DGV) ( 2 ). (
  • The large number of paired-end reads was optimally mapped to the human genome computationally ( 12 ). (
  • The information generated from the Genome Projects will be of the greatest value if it can be converted into functional data, particularly if this increases our understanding of normal gene function and allows strategies to be developed for prevention and treatment of human disease. (
  • Genes on chromosome 11 are among the estimated 20,000 to 25,000 total genes in the human genome. (
  • Today, they make up about 5% of the human genome and have probably been a major driving force in the ape evolution. (
  • The map showed that about a third of the duplications in the human genome are unique to us, and most of the remaining duplications are ones we share with chimps. (
  • National Human Genome Research Institute (NHGRI) - Homepage. (
  • In a separate project, an international consortium of researchers has sequenced the genome of the Anopheles gambiae mosquito*, which transmits the parasite to humans. (
  • The draft human genome was published by an international consortium in February 2001. (
  • 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 . (
  • The Institute for Genome Research (TIGR) sequenced 2, 10, 11 and 14 : Stanford sequenced chromosome 12. (
  • In essence,' Willard said, 'there is not one human genome, but two -- male and female. (
  • Scientists estimate that there may be as many as 30,000 genes in the chemical DNA blueprint for human growth and development known as the human genome. (
  • One of the challenges in studying common human diseases has been the general lack of technologies that allow us to measure the entire genome (all 3*10 9 nucleotides) quickly and inexpensively. (
  • If susceptibility to disease is determined by many different genes working together in a network, then we need to be able to measure all relevant DNA sequence variations across the human genome. (
  • The accessibility of inexpensive chips has ushered in the era of the "genome-wide" or "whole-genome" association study that is expected to revolutionize human genetics [ 2 , 3 ]. (
  • Just around the corner are new technologies that will allow us to measure the entire genome of an individual for less than $1,000 [ 4 ]. (
  • The human IL-4 gene, which occurs as a single copy in the haploid genome, is mapped on chromosome 5. (
  • The completion of the draft sequence of the human genome in 2001 was one of the great milestones of science. (
  • It is important to appreciate that the Human Genome Project is just the flagship of a fleet of studies to explore the molecular and genetic basis of life and its diversity, which will provide the scientific and technological "scaffolding" for understanding the human genome and human biology. (
  • Kinetochore clustering, frequently observed in yeasts, plays a key role in genome organization and chromosome segregation. (
  • The completion of the sequencing phase of the Human Genome Project has provided important raw data for the mining of regulatory elements governing the expression profile of a gene ( 54 ). (
  • An important outgrowth of the Human Genome Project that has assisted investigators in defining the boundaries of genomic DNA necessary for the complete expression of a particular gene has been the development of artificial chromosomes ( 4 , 50 ). (
  • In organisms such as viruses and eukaryotes in which recombination within chromosomes or genome segments occurs primarily via crossovers, these recombination fractions vary hugely among different pairs of loci. (
  • Less is known about viral recombination rates, but Neher and Leitner (2010) estimate that in human immunodeficiency virus (HIV) recombination rates among loci vary by a factor of ∼10 3 over the genome. (
  • In C.elegans (a nematode), the sexes differ in their chromosome numbers: the male is haploid for the sex chromosome (X,O) and the female is diploid (X,X) resulting in a total of 11 diploid chromosomes in males and 12 in females. (
  • Haploid ( n ) number is the number of chromosomes in germ cells (23 in humans), diploid (2 n ) number is the number of chromosomes in somatic cells (46 in humans). (
  • Normal diploid cells from humans show a limited capacity for proliferation in culture, 1 and this finite replicative lifespan has frequently been used as a model of human aging in mitotic tissues and organs. (
  • This is called a diploid set of chromosomes . (
  • State which cells in the human body are diploid and which are haploid. (
  • At fertilisation a haploid sperm fuses with a haploid egg, making a cell with the normal diploid (2n) number of chromosomes. (
  • This animation represents a simplified example of gamete formation during meiosis, in the case of a diploid cell with two pairs of homologous chromosomes. (
  • 1 Institute of Human Genetics, University of Bonn, Germany. (
  • An important goal of human genetics is to identify which genes and which specific DNA sequence variations (polymorphisms) play an important role in determining susceptibility to common diseases such as cancer, essential hypertension, and schizophrenia. (
  • Human genetics has been very successful in identifying rare DNA sequence variations (mutations) that predict with virtual certainty whether an individual will develop a rare disease such as cystic fibrosis or sickle cell anemia. (
  • I will briefly introduce some of the computational challenges we are facing in human genetics, hopefully as a way to motivate computer scientists to establish meaningful collaborations with geneticists and epidemiologists on the front lines of identifying genetic risk factors for common human diseases. (
  • Human Molecular Genetics. (
  • American Journal of Human Genetics. (
  • Genomics and Human Genetics 15: 47-70. (
  • Human Genetics , published online 28 April 2017. (
  • American Journal of Human Genetics , published online 25 April 2016. (
  • Bacterial artificial chromosomes, or BACs, are fertility- (F-) factor-based plasmid vectors that replicate stably in low copy number [ 2 , 3 ]. (
  • Efficient studies of long-distance Bmp5 gene regulation using bacterial artificial chromosomes. (
  • Artificial chromosomes, which harbor hundreds of kilobases of genomic DNA, preserve a large sequence landscape containing most, if not all, regulatory elements controlling the expression of a particular gene. (
  • Mendel's first principle, segregation , is the direct result of the separation of homologous chromosomes during anaphase I of meiosis. (
  • PDGFRA -associated chronic eosinophilic leukemia is caused by genetic abnormalities that involve the PDGFRA gene, a gene found on chromosome 4. (
  • The PDGFRA gene is found on chromosome 4. (
  • The CF gene is found on chromosome number 7. (
  • In order to clarify whether TEC and DBA are allelic, we investigated the segregation of markers spanning the RPS19 gene region on chromosome 19q13.2 and performed sequence analysis of all exons in the RPS19 gene in seven TEC sibling pairs. (
  • The HBP gene is composed of eight exons covering 19.5 kb on the short arm of chromosome 4. (
  • It is composed of four exons and three introns and is approximately 10 kilobase pairs in size. (
  • Here, a translocation of a part of chromosome 4 with another part (t(4;14)(p16;q32) causes the fusion of WHSC1 with another gene on chromosome 14. (
  • The translocation, which is written as t(4;14)(p16;q32), abnormally fuses the WHSC1 gene on chromosome 4 with part of another gene on chromosome 14. (
  • Haplotype inspection of the remaining 11 families, which appear linked to chromosome 4p and had typical phenotypes, revealed crossover events during meiosis, which also placed the gene in the interval D4S432 and D4S431. (
  • Telomeres have important functions such as preventing end-to-end fusion of chromosomes, assisting with chromosome pairing in meiosis, and ensuring complete replication of chromosome extremities. (
  • Key points about meiosis: it halves the number of chromosomes per cell and it gives rise to new gene combinations (via crossing-over within the chromosomes and chromosomal re-assortment). (
  • Cells formed through meiosis have only half the number of chromosomes or genetic material of the parent cell. (
  • Where does meiosis occur in humans? (
  • In the sexually reproducing dojo loach, reproductive cells divided through the normal process of meiosis, in which a single cell containing a full set of 50 chromosomes produces one egg containing 25 chromosomes. (
  • Eggs and sperm duplicate via meiosis, with 4 new gametes being produced in each cycle. (
  • If there is a mistake during meiosis, a chromosome pair might fail to properly separate and distribute into each forming cell, and a gamete might be left with two copies of a gene instead of one. (
  • Meiosis is a reductional cell division where the number of chromosomes is divided into half. (
  • Meiosis influence stable sexual reproduction by halving of ploidy or chromosome count. (
  • Gene expression from bacterial artificial chromosome (BAC) clones has been demonstrated to facilitate physiologically relevant levels compared to viral and nonviral cDNA vectors. (
  • Here we describe the use of bacterial artificial chromosome clones to rapidly survey hundreds of kilobases of DNA for potential regulatory sequences surrounding the mouse bone morphogenetic protein-5 (Bmp5) gene. (
  • Here, we report on the use of a bacterial artificial chromosome (BAC) to begin understanding the in vivo regulation of smooth muscle calponin (SM-Calp). (
  • Some copies of chromosome 4 have a functional pLAM sequence, while others do not. (
  • Copies of chromosome 4 with a functional pLAM sequence are described as 4qA or "permissive. (
  • Grey data points each represent a different DNA sequence position along the length of chromosome 2 as indicated on the x axis, with more positive values on the y-axis indicating earlier replication. (
  • In either case, we can measure the amount of the different DNA sequences along the length of the chromosome either directly using a machine that reads how much of each sequence is present or indirectly using a process called microarray hybridization. (
  • The DNA sequence is divided into chromosomes. (
  • We find that miR-941 emerged de novo in the human lineage, between six and one million years ago, from an evolutionarily volatile tandem repeat sequence. (
  • Short gene sections called primers that bind only to chromosome sections with a high degree of sequence complementarity were used to locate genes of interest on the autosomes. (
  • 4 The only way to theoretically document the translocation claims is to sequence the actual genes of the mythical common ancestor-which does not exist-and then do the same comparisons Hughes completed to determine their location changes. (
  • The human telomere is a simple repeating sequence of six bases, TTAGGG, located at the ends of chromosomes. (
  • The team produced the first complete sequence of the X chromosome about two years after the decoding of the male Y chromosome. (
  • Complete nucleotide sequence of the chromosomal gene for human IL-4 and its expression. (
  • We have isolated a chromosomal DNA segment of the human IL-4 gene based on homology with a human IL-4 cDNA sequence and determined its complete nucleotide sequence. (
  • Several patches of sequences are found in the 5'-flanking region of the human IL-4 gene which are homologous to sequence in the 5'-flanking regions of the IL-2, IL-3, IL-5, and granulocyte-macrophage (GM)-CSF genes. (
  • Determining the sequence has laid the foundations for determining the complete set of proteins that are produced in the human (the "proteome"), but we do not know the function of most of these proteins. (
  • Even when a protein sequence allows a reasonably confident prediction of the biochemical action of the protein, such as a probable tyrosine kinase or serine protease, the role of these proteins in human physiology and development has not yet been determined. (
  • Extensive analyses confirm the underlying construction of the sequence, and expand our understanding of the structure and evolution of mammalian chromosomes, including gene deserts, segmental duplications and highly variant regions. (
  • TRF2 is a sequence-specific DNA binding protein that binds to the duplex array of TTAGGG repeats at human telomeres and protects chromosome ends from end-to-end fusion ( 14-17 ). (
  • Long and accurate polymerase chain reaction, sequencing, and in silico analyses facilitated the complete sequence annotation of a BAC harboring human SM-Calp (hSM-Calp). (
  • sequence of the human All the DNA contained in an organism or a cell, which includes both the chromosomes within the nucleus and the DNA in mitochondria. (
  • Alleles are found in the same position ( locus ) on each chromosome in a homologous pair . (
  • 3 This conclusion was largely based on a study by Jennifer Hughes and her team.The study used the assumption that "the mammalian X and Y chromosomes evolved from a single pair of autosomes [non-sex chromosomes]. (
  • At the end of each chromosome is a string of repeating DNA sequences called a telomere. (
  • Although such genetic happenings are common on the Y chromosome, scientists have also identified regions which contain palindromic sequences which seem to help the Y chromosome retain its active functions. (
  • [1] One way simply measures the amount of the different DNA sequences along the length of the chromosome per cell. (
  • 5 Telomeric repeats of DNA sequences at chromosome ends are shortened by 33-120 bp with each cell division in human fibroblasts 6 and lymphocytes 7 in vitro , but the question of telomere shortening with aging in many other cell types, and human tissues and organs in vivo remains unclear. (
  • Finally, it is not always possible to construct a multiple alignment of binding sites, because there may be no consistent choice for the sequences' orientations such that every pair of sequences is optimally aligned. (
  • Divergence between samples of chimpanzee and human DNA sequences is 5% counting indels. (
  • Chromomeres and their associated loops on lampbrush chromosomes are not genetic units although in some special cases, they consist of specific families of repeated DNA sequences. (
  • Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (
  • sequences would provide the answer to the question of why humans are so different from their closest living ancestors. (
  • While 18 pairs of chromosomes are 'virtually identical', chromosomes 4, 9 and 12 show evidence of being 'remodeled. (
  • They form in attached, identical pairs. (
  • This idea is based on evaluations of modern X and Y sex chromosomes that evolutionists think resulted from an original common ancestral pair of identical chromosomes. (
  • From this comparison one could determine which genes were lost, which were gained, or which moved to other locations, assuming the X and Y chromosomes were once identical. (
  • But what if the two chromosomes were not originally identical and no Y chromosome "loss" has occurred? (
  • Each gamete is unique, in humans trillions of possible combinations, so having two fertilizations of genetically identical gametes is incredibly rare. (
  • Our proteins are virtually identical and our chromosomes have more or less the same structure. (
  • Although 96% of the DNA is similar overall, there are some very significant differences in some chromosomes, where other chromosomes are nearly identical. (
  • Specifically, 18 of the chromosomes of humans are nearly identical to those of chimpanzees, the rest are very different (eg: chromosomes 4, 9, 12, 21, and y). (
  • Fig. 1 ), focussing specifically on lampbrush bivalents, reported that "…… chromomeric patterns are rarely identical in the two homologues ", which was surprising and somewhat perplexing at the time, in view of the strikingly regular species specificity of chromomeric (=band) pattern in polytene chromosomes from dipteran flies. (
  • Replication timing refers to the order in which segments of DNA along the length of a chromosome are duplicated. (
  • A diagrammatic representation of replication timing in a 70-Mb segment of human chromosome 2. (
  • This shortening rate is faster than expected from the end-replication problem ( 5-8 ), suggesting active nucleolytic attack on chromosome ends. (
  • Human and Chimpanzee Karyotypes packet (four figures: 2a-2d) on 4 pages. (
  • 5 In other words, the genes and markers on these chromosomes are not in the same order in the human and chimpanzee. (
  • The Y chromosome in particular is of a different size and has many markers that do not line up between the human and chimpanzee. (
  • Scientists have prepared a human-chimpanzee comparative clone map of chromosome 21 in particular. (
  • 2010. Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. (
  • 2002. 'Construction and analysis of a Human-Chimpanzee Comparative Clone Map. (
  • Y chromosome (MSY) for the Two living species of ape in the genus Pan, including Pan troglodytes, the Common Chimpanzee, and Pan paniscust, also known as Bonobo or Pygmy Chimpanzee. (
  • Chromosomes are located inside of the nucleus of cells. (
  • Expression of miR-378 was analyzed in ovarian cancer cell lines and human tumors vs. normal ovarian epithelial cells by qRT-PCR. (
  • For example, rearrangements (translocations) of genetic material between chromosome 4 and several other chromosomes have been associated with leukemias, which are cancers of blood-forming cells. (
  • A specific translocation involving chromosome 4 and chromosome 14 is commonly found in multiple myeloma, which is a cancer that starts in cells of the bone marrow. (
  • Most eukaryotic cells have 2 copies of every chromosome. (
  • For example, most cells of fruit flies have eight chromosomes, arranged as four similar pairs. (
  • But the egg or sperm cells of a fruit fly have only four chromosomes. (
  • But human egg and sperm cells only have twenty-three chromosomes. (
  • For most genes on this chromosome, both copies of the gene are expressed, or "turned on," in cells. (
  • A blastocyst is an early stage embryo-approximately four to five days old in humans and consisting of 50-150 cells. (
  • The fertilized egg (day 1) undergoes cell division to form a 2-cell embryo, followed by 4-cell, etc. until a ball of cells is formed by the fourth day. (
  • In eukaryotic cells (cells that package their DNA within a nucleus), chromosomes consist of very long linear double-stranded DNA molecules. (
  • The human body has nearly 1013 cells. (
  • Each cell (except for red blood cells) contains a nucleus that houses these chromosomes. (
  • Interference with PSMB4 Expression Exerts an Anti-Tumor Effect by Decreasing the Invasion and Proliferation of Human Glioblastoma Cells. (
  • PSMB4 knockdown decreased the expression levels of MMP2, MMP9 and cathepsin B and decreased proliferation, migration and invasion abilities in human GBM cells. (
  • What do you need from humans to produce this cDNA, and what cells would you use as your source material? (
  • Their 'somatic' non-reproductive cells contain a full set of 50 chromosomes-25 from each parent-while their reproductive egg and sperm cells contain 25 chromosomes. (
  • How the reproductive process leads to 50 chromosomes in egg cells has been unclear. (
  • To better understand this mechanism, a research team including Masamichi Kuroda and Takafumi Fujimoto of Hokkaido University's Graduate School of Fisheries Sciences developed DNA probes to track the chromosomes in dojo loach's somatic and reproductive cells. (
  • Fluorescent signals indicate that the half of the chromosomes in the somatic cells of female clones are derived from type B (green signals). (
  • According to the results published in Chromosome Research, the fluorescent signals indicated that somatic cells of the female clones have 25 chromosomes derived from type B, providing evidence that their ancestral origin arose when type A and B mated. (
  • Within the cells of the body , the chromosome appear in pairs. (
  • Chromosomes are found in the nucleus of all body cells. (
  • To avoid any toxic effect from double sets of X genes, female cells randomly choose one copy of the X chromosome and silence it -- or so scientists had believed. (
  • To investigate this variation, Carrel and Willard isolated cells from 40 women and measured the activity of hundreds of genes to see whether those on the second X chromosome were active or silent. (
  • Based on interference analysis, eight groups of retroviruses have been identified that use different receptors on human cells ( 3 ). (
  • The recent discovery of three new human-tropic retroviruses from pig and wild mouse origin ( 4 , 5 ) that represent additional interference groups ( 6 , 7 ) suggests that at least 11 distinct surface molecules can act as retrovirus receptors on human cells. (
  • The 2.3-kb 5'-flanking region of the human IL-4 gene transiently transfected into Jurkat human T cell leukemia cells is activated efficiently in response to TPA and A23187 stimulation and, although less efficiently, by human T cell leukemia virus type I-encoded p40x or BPV-encoded E2 protein. (
  • Trisomy 13 can also result from an extra copy of chromosome 13 in only some of the body's cells (mosaic trisomy 13). (
  • Normal human reproductive cells have 23 chromosomes. (
  • They were able to show that the cells from which these male brain neurons are born share common characteristics to the cells that give rise to human brain neurons. (
  • They are glial cells -- companion and support cells of neurons.The newly identified pair of neurons -- called 'mystery cells of the male' or "MCMs" - create behavioural differences between the sexes by changing a brain circuit common to both. (
  • The "MCM" neurons are only made from glial cells that have male chromosomes. (
  • Primary human cells in culture invariably stop dividing and enter a state of growth arrest called replicative senescence. (
  • Replicative senescence of human cells occurs as a consequence of the progressive shortening of the TTAGGG repeat tracts at chromosome ends ( 1 ). (
  • Replicative senescence can be induced by either the p53 or the p16-retino blastoma (RB) pathways ( 4 , 12 , 13 ), but how these pathways are activated in cells with shortened telomeres is not known. (
  • The data presented here argue against this view and suggest that the main event heralding the end of the replicative life of primary human cells is a failure in the protective function of critically shortened telomeres. (
  • Retroviral-mediated overexpression of TRF2 in primary human IMR90 fibroblasts ( 19 ) resulted in accelerated telomere shortening ( Fig. 1 , A and B). Although IMR90 cells normally lose telomeric DNA at a rate of 99 to 112 bp per end per PD, TRF2 accelerated telomere attrition by 50 to 80%, from 165 to 181 bp per end per PD ( Fig. 1 B) ( Table 1 ). (
  • This DNA contains genetic information about an organism/human being. (
  • The entire material or physical structure of an organism, especially of a human or animal. (
  • Chromosomes are usually (in the interphase) dispersed throughout the nucleus but become compacted during metaphase of cell division. (
  • However, it is an intriguing cellular mechanism with links to many poorly understood features of the folding of chromosomes inside the cell nucleus. (
  • A cell's nucleus contains chromosomes, which are long, coiled packaged and organized chromatin (molecules of DNA). (
  • Bottom left) The nucleus of each cell in the body contains chromosomes made up of tightly wound coils of DNA. (
  • However, closer examination of the entire All the DNA contained within species of organisms, which includes both the chromosomes within the nucleus and the DNA in mitochondria. (
  • Although it was originally thought that 97% of human Deoxyribonucleic acid: the chemical inside the nucleus of a cell that carries the genetic instructions for making living organisms. (
  • It is known to have human paralogs, TVP23B and TVP23C, as well as orthologs in many different species, notably yeast, mice, and chickens. (
  • It has also been shown that regions of the Y chromosome are constantly being lost by either deletions or recombination which might - so some scientists believe - eventually wipe out the male species from the human race. (
  • A karyotype a complete set of chromosomes of a particular species. (
  • I think human people should get more deference than ones from other species, and that is how it generally happens in society. (
  • spireme threads which in some sense or other are serial aggregates which have a perfectly definite organisation and one that differs specifically from chromosome to chromosome and from species to species. (
  • Centromeres/kinetochores are clustered at the nuclear periphery in most studied yeast species ( 1 - 4 ). (
  • Although the scaling of the mutation rate with the number of tandem repeats is highly consistent across distantly related species, including yeast and human, the per-cell-division mutation rate appears to be elevated in multicellular species. (
  • This group consists of chromosome pairs 4 and 5. (
  • The secondary structure of TVP23A consists primarily of alpha helices composing 4 transmembrane domains. (
  • A gene consists of a long combination of 4 different nucleotides bases with many possible combinations. (
  • The male sperm & female egg consists of a single cell of 23 chromosomes each. (
  • Unlike the sexually reproducing female population, both their somatic and reproductive eggs contain 50 chromosomes, assuring their clonal reproduction. (
  • a. somatic cell and gamete b. autosome and sex chromosome 4. (
  • The dad places one set of the homologous pairs (ex: that longer set) behind his back, with a chromosome in each hand. (
  • Now the 'mom' places one set of the homologous pairs behind her back and the male chooses. (
  • Arrange the chromosomes into homologous pairs and figure out what phenotypes (appearance or trait) the offspring has. (
  • Wolf-Hirschhorn syndrome is caused by a deletion at the end of the short arm of chromosome 4 at point 16.3 (4p16.3). (
  • A translocation involving chromosome 11 can cause a type of cancerous tumor known as Ewing sarcoma. (
  • Humans are unique among primates with much shorter telomeres only 10 kilobases long. (
  • 2 It is thought that telomeres have multiple roles, including protection against degeneration, reconstruction, fusion and loss, 3 as well as contributing to pairing of homologous chromosomes. (
  • 2) Chimpanzees and other apes have telomeres about 23 kilobases long, whereas humans are completely unique among primates with much shorter telomeres only 10 kilobases long. (
  • TRF2 protected critically short telomeres from fusion and repressed chromosome-end fusions in presenescent cultures, which explains the ability of TRF2 to delay senescence. (
  • Development of paired-end mapping for detecting SVs. (
  • In order to identify SVs more accurately, we developed paired-end mapping (PEM), which involves the preparation and isolation of paired ends of 3-kb fragments ( 12 ), and their massive sequencing with 454 technology ( Fig. 1 ) ( 13 ). (
  • During the anaphase, longitudinal splitting of the chromosomes occurs. (
  • Such recombination normally occurs between paternally-derived and maternally-derived chromosomes . (
  • Trisomy 13 occurs when each cell in the body has three copies of chromosome 13 instead of the usual two copies. (
  • Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. (
  • One possibility is that senescence occurs when one or more chromosome ends have lost all telomeric DNA. (
  • The most common of these abnormalities is a deletion of genetic material from chromosome 4 that removes approximately 800 DNA building blocks (nucleotides) and brings together parts of two genes, FIP1L1 and PDGFRA , creating the FIP1L1-PDGFRA fusion gene. (
  • Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. (
  • These individuals have two normal copies of chromosome 11, two normal copies of chromosome 22, and extra genetic material from the der(22) chromosome. (
  • Ring chromosome 4 is a rare disorder that is typically characterized by loss (deletion) of genetic material from both ends of the 4th chromosome and joining of the chromosomal ends to form a ring. (
  • In most affected individuals, ring chromosome 4 appears to result from loss (deletion) of genetic material from both ends of the 4th chromosome and a joining of the ends to form a ring. (
  • Complex chromosomal rearrangement involving chromosomes 1, 4 and 22 in an infertile male: case report and literature review. (
  • The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. (
  • Chromosome 3q arm gain linked to immunotherapy response in advanced cutaneous squamous cell carcinoma. (
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (
  • Because there are two copies of chromosome 4 in each cell, individuals may have two "permissive" copies of chromosome 4, two "non-permissive" copies, or one of each. (
  • There are 23 pairs of chromosomes in each human cell. (
  • This naming is due to the capacity of chromosomes to take up histological stains more effectively than other cell structures. (
  • 1 of 4 of my cell cycle unit. (
  • Chromosomes begin to migrate to cell equator. (
  • The Y chromosome makes up almost 2% of the total DNA in a cell. (
  • As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. (
  • If unwound and tied together, human DNA in one cell would stretch ~ 5 feet, but would be only 50 trillionths of an inch wide! (
  • Figure 2 shows a cartoon of how this is generally envisioned to occur, while Figure 3 shows an animation of when different segments replicate in one type of human cell. (
  • Chromosomes lining up at middle of cell. (
  • In the female clones, the team found that the chromosomal material doubles twice so that when it divides, each results in an egg cell containing a full set of 50 chromosomes. (
  • Each cell contains one set of chromosomes- one comes from mother & other comes from father. (
  • Knowledge of the meiotic phase of the cell life cycle is important in understanding the radiosensitivity of the human oocyte. (
  • 5) How many chromosomes would normally be found in a human stomach cell? (
  • The genes are parceled out in 23 pairs of rod-like structures called chromosomes contained in every cell of the body. (
  • The IL-4 gene is inducible after treatment of human T cell clone by phorbol-12-myristate-13-acetate (TPA) and calcium ionophore A23187. (
  • Klinefelter patients have an extra female X chromosome giving them 47 chromosomes in every cell instead of 46. (
  • Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. (