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)

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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.
WOLF-HIRSCHHORN SYNDROME description, symptoms and related genes. Get the complete information in our medical search engine for phenotype-genotype rel
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 ...
The purpose of this study is to establish a standardized functional testing protocol and measure longitudinal changes in muscle strength and function among patients with infantile onset FSHD, to describe the longitudinal changes in clinical phenotypes of infantile FSHD, to evaluate the long-term impact of physical impairment, secondary health conditions, activity limitations and disability caused by FSHD on health-related quality of life and disability, and to evaluate genetic modifiers and biomarkers of clinical phenotypes and disease progression in infantile FSHD ...
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 …
TY - JOUR. T1 - Duplication of the Distal Long Arm of Chromosome 15. T2 - Report of Three New Patients and Review of the Literature. AU - Roggenbuck, Jennifer A.. AU - Mendelsohn, Nancy J.. AU - Tenenholz, Beverly. AU - Ladda, Roger L.. AU - Fink, James M.. PY - 2004/5. Y1 - 2004/5. N2 - Patients with trisomies or duplications of distal 15q have rarely been reported in the literature. Previous authors [Zollino et al., 1999: Am J Med Genet 87:391-394] have described a distal 15q trisomy syndrome, including the unusual features of prenatal overgrowth, tall stature, macrocephaly, and craniosynostosis. We report three new patients with a duplication of 15q24-q26.3; features common to the two surviving patients include ptosis, small size, and developmental delay. None of these patients had craniosynostosis or overgrowth. We propose that the previously described distal 15q trisomy syndrome [Zollino et al., 1999: Am J Med Genet 87:391-394] may result from specific disruption of a gene linked to 15q25, ...
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.
This site is intended to aid those who are affected by Wolfram Syndrome (DIDMOAD). This is not a scientific or medical information site, but an information site prepared by those who are similarly affected.
Stephen Wolfram demonstrates powerful features in Wolfram Mathematica 9 and Wolfram|Alpha and discusses CDF (Computable Document Format), mobile and cloud implementations.
Get answers to your questions about polyforms with interactive calculators. Get information about a class of polyforms and specify the order of the polyforms.
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 ...
The relationship of phenotype to genotype in a clinically and genetically well defined population of 157 affected patients and 62 kindreds with facioscapulohumeral muscular dystrophy (FSHD) was examined at the University of Rochester School of Medicine, NY, and Ohio State University, Columbus, OH. Using isometric myometry scores to quantify disease severity, a significant correlation between disease severity and the size of the 4q35-associated deletion was evident, and the offspring were more severely affected than their parents. This generation effect and presence of anticipation in FSHD suggests a possible underlying dynamic mutation and an unstable repeat element within the region of the 4q35 deletion. [1]. COMMENT. These findings have important significance in the genetic counselling of patients with FSHD. No differences in severity of disease were noted between paternally and maternally inherited FSHD, but a reduction in reproductive fitness in male compared to female patients was an ...
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 ...
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Watertown, MA-Daniel Perez, co-founder, President and CEO of the FSH Society and a 48-year-old patient with facioscapulohumeral muscular dystrophy (FSHD), the most common form of muscular dystrophy, hailed new findings,… Read More ». ...
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 …
The Problem Facioscapulohumeral muscular dystrophy (FSH) is an autosomal dominant condition with frequent sporadic cases that is the third most common dystrophy. First described in 1884, it has a prevalence estimated at 1:20,000. Although it has a wide-ranging clinical spectrum, there is a high penetrance, so greater than 95% of patients will have clinical symptoms…. ...
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 ...
It was during Vicki Foleys 20-week ultrasound that they discovered fetal measurements were about a month behind schedule. Thus began regular monitoring and eventually a planned delivery at 37 weeks. While Royal Columbian Hospitals Variety Neonatal Intensive Care Unit looked after baby Hope for her first few weeks, it took genetic testing to offer an explanation for the newborns small size. She was diagnosed with a rare chromosomal condition known as Wolf-Hirschhorn syndrome.. Read more. ...
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.
Some business operations are restricted under state or territory government public health directions. If you want to know what restrictions on business operations apply to your workplace, go to your state or territory government website. You can also go to our Public health directions and COVIDSafe plans page for links to enforceable government directions.. Businesses must only operate to the extent permissible in each state and territory. The information provided below outlines measures which cover all aspects of services offered by the industry - depending on what is permissible in your jurisdiction, some sections may not be currently relevant to your business. You should check any relevant advice from your state or territory regarding working from home in response to COVID-19. Safe Work Australia does not regulate or enforce WHS laws or COVID-19 restrictions on business operations. If you want to know how WHS laws apply to you or need help with what to do at your workplace, contact the WHS ...
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.
Lets be honest...How many people actually using WHSv1 are actually a typical consumer? I doubt a single person reading these threads would be considered a typical consumer. Did I like DE, yes. Did I like the proprietary nature of DE, no. I do find WHS2011 much more responsive, and the installation was one of the most simple installs of an OS I can recall!. This may have been touted as being for the average consumer, but unlikely those people ever bought a copy.. So, since we are not typical consumers, why not turn on the DFS role, make a DFSROOT, and what I did was mount a 2TB drive, and shared it as MY MOVIES 1, added it to the DFS, added a 1.5 TB drive, shared it as MY MOVIES 2, etc, etc. No drive letters need be assigned, I shared into an empty NTFS folder, no letters assigned.. While I will miss the neat pie chart of disk stogage allocation, I think this can work. Now, if they turned WHS2011 into an OS that can be a tuner farm, and serve tuners to a google tv replacement, that would be ...
Stephen Wolfram introduces the Wolfram Language, with overview and demonstrations, in a video showing the power of this symbolic programming language.
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"one mutation in every 30 million base pairs" Karmin; et al. (2015). "A recent bottleneck of Y chromosome diversity coincides ... In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non-recombining portions of ... 2016). "The Divergence of Neandertal and Modern Human Y Chromosomes". The American Journal of Human Genetics. 98 (4): 728-34. ... Y-chromosome DNA (Y-DNA) haplogroups are the major branches on the human paternal family tree. Each haplogroup has many ...
Goldfrank D, Schoenberger E, Gilbert F (2003). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 4 ... Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 4: entries, gene ... The following is a partial list of genes on human chromosome 4. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 4. Because researchers use different approaches to ...
Humans have 23 pairs of chromosomes and other great apes have 24 pairs of chromosomes. In the human evolutionary lineage, two ... Human and chimpanzee chromosomes are very alike. The primary difference is that humans have one fewer pair of chromosomes than ... Wikiversity has learning resources about Chimpanzee Genome Project Human evolutionary genetics Human chromosome 2 Human Genome ... producing human chromosome 2. There are nine other major chromosomal differences between chimpanzees and humans: chromosome ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 13: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 13: ... Wikimedia Commons has media related to Human chromosome 13. National Institutes of Health. "Chromosome 13". Genetics Home ... G-banding ideograms of human chromosome 13 "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 10: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 10: ... "Chromosome 10". Genetics Home Reference. Archived from the original on 2010-04-08. Retrieved 2017-05-06. "Chromosome 10". Human ... The following is a partial list of genes on human chromosome 10. For complete list, see the link in the infobox on the right. ...
... is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome ... "Chromosome 11: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 11: ... At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome ... Wikimedia Commons has media related to Human chromosome 11. National Institutes of Health. "Chromosome 11". Genetics Home ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 12: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 12: ... Chromosome 12 contains the Homeobox C gene cluster. The following are some of the gene count estimates of human chromosome 12. ... "Chromosome 12". Genetics Home Reference. Archived from the original on 2007-06-12. Retrieved 2017-05-06. "Chromosome 12". Human ...
It has 14 chromosomes. Vicia bithynica is not cultivated for human or livestock consumption. The seeds contain high levels of ... The leaves are arranged alternately along the stem, are up to about 9 cm long, have 2-3 pairs of leaflets, and end in branched ... The flowers are arranged in pairs (although sometimes solitary) on long (5 cm) peduncles branching from the leaf axils. The ... 59 (4): 463-468. doi:10.1002/jsfa.2740590406. Warren, Susan. "The Wild Flowers of Skopelos". Bennett, S.J.; Maxted, N. (1997 ...
Articles with short description, Short description matches Wikidata, Genes on human chromosome 12, Chromosomes, Protein ... There are 13 exons in the canonical isoform that is transcribed into an mRNA of 2797 base pairs. Three other isoforms have been ... "C12orf40 chromosome 12 open reading frame 40 [ Homo sapiens (human) ]". NCBI Gene. National Center for Biotechnology ... In humans, the gene for C12orf40 is located on chromosome 12. ... The human C12orf40 protein is 652 amino acids in length. Its ...
GXP_921944 spans 1910 base pairs on chromosome 4. There are 15 coding transcripts supporting this promoter, but none are ... Relative to other human proteins, C4orf51 has more serine resides and fewer valine residues. In humans, the C4orf51 protein ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 4). ... Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene. The C4orf51 gene is ...
This 1069 base pair promoter sequence spans 41936535-41937603 on human chromosome 4. The promoter sequence overlaps with the 5 ... In humans, this gene's DNA location is the short arm of chromosome 4, loci position: 4p13. The genomic range is 41937502- ... Transcripts a, b, and c have a 744 base pair long coding range and a particularly long 3' UTR that is 6000 base pairs long. In ... There is an experimentally determined acetylation point is at alanine, amino acid residue 2 in humans. Human TMEM33 has ...
Locus The human gene WWC2 is found on chromosome 4 at band 4q35.1. The gene is found on the plus strand of the chromosome and ... is 8,822 base pairs long. The gene contains 23 exons. The WWC2 locus is quite complex and appears to produce several proteins ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 4). ... Paralogs There are two paralogs of WWC2 found in humans, WWC1 and WWC3. WWC1 is located on chromosome 5 and is a probable ...
Genes on human chromosome 17, Protein pages needing a picture, Human gene pages with Wikidata item, Wikipedia articles needing ... Rs727428 position 7634474 is in several percent of humans. (TAAAA)(n) is five base pairs that repeats a variable number of ... In humans common polymorphisms include the following: Rs6259, also called Asp327Asn location 7633209 on Chromosome 17, results ... Hryb DJ, Nakhla AM, Kahn SM, St George J, Levy NC, Romas NA, Rosner W (July 2002). "Sex hormone-binding globulin in the human ...
CS1 maint: url-status, Genes on human chromosome 1). ... The zc3h11b gene is a total of 5,134 base pairs long, and the ... ZC3H11B also known as zinc finger CCCH-type containing protein 11B is a protein in humans that is encoded by the ZC3H11B gene. ... The zc3h11b gene is located on chromosome 1, on the long arm, in band 4 section 1. This protein is also known as ZC3HDC11B. ... "UniProtKB - A0A1B0GTU1 (ZC11B_HUMAN) =". UniProt.{{cite web}}: CS1 maint: url-status (link) Hall TM (June 2005). "Multiple ...
Genes on human chromosome 2). ... The coding region is made up of 4292 base pairs and the protein ... KIAA1841 is expressed at low levels in a wide range of tissues throughout the human body. In humans, the KIAA1841 gene produces ... "Genecards". The Gene Human Database. "Aceview". NCBI. "Genecards". The Gene Human Database. "BLAST". NCBI. Hedges, SB. " ... Orthologs of the human protein KIAA1841 are listed above in descending order or date of divergence and then ascending order of ...
"C11orf98 chromosome 11 open reading frame 98 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2021-10-04 ... It spans across 2,394 base pairs of DNA and produces an mRNA that is 646 base pairs long. This gene is expressed at a very high ... "C11orf98 chromosome 11 open reading frame 98 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2021-12-18 ... C11orf98 is a protein-encoding gene on chromosome 11 in humans of unknown function. It is otherwise known as c11orf48. The gene ...
For example, in humans, females (XX) silence the transcription of one X chromosome of each pair, and transcribe all information ... of the Y chromosome during meiosis. Additionally, 10-25% of human X chromosome genes, and 3-7% of mouse X chromosome genes ... Specifically, platypus X1 shares homology with the chicken Z chromosome, and both share homology with the human chromosome 9. ... smaller W chromosome. Instead of silencing the entire chromosome as humans do, male chickens (the model ZZ organism) seem to ...
In mammals, SMAD4 is coded by a gene located on chromosome 18. In humans, the SMAD4 gene contains 54 829 base pairs and is ... Genes on human chromosome 18, Developmental genes and proteins, MH1 domain, MH2 domain, Transcription factors, Human proteins) ... located from pair n° 51,030,212 to pair 51,085,041 in the region 21.1 of the chromosome 18. SMAD4 is a 552 amino-acid ... Somatic mutations found in human cancers of the MH1 domain of SMAD 4 have been shown to inhibit the DNA-binding function of ...
The MN blood group in humans is under the control of a pair of co-dominant alleles, LM and LN. Most people in the Inuit ... The MNS antigen system is a human blood group system based upon two genes (glycophorin A and glycophorin B) on chromosome 4. ... Comparison of Human MM, NN, and MN Blood Group Antigens. The Journal of Biological Chemistry, 242, 1736-1722. Roback JD et al. ... Daniels G. Human Blood Groups. 2nd Ed. Oxford: Blackwell Science, 2002. ISBT Committee on Terminology for Red Cell Surface ...
Genes on human chromosome 6). ... The tmem242 gene is 35,238 base pairs long, and the protein is ... The tmem242 gene is located on chromosome 6, on the long arm, in band 2 section 5.3. This protein is also commonly called ... There are ubiquitous basal level expression of tmem242 in all tissues in human and mouse. There are other tissues with increase ... "Entrez Gene: chromosome 6 open reading frame 35". "transmembrane protein 242 [Homo sapiens]". Protein - NCBI. National Center ...
"C12orf66 chromosome 12 open reading frame 66 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2017-02-25 ... C12orf66 variant 1 is 36 Mbp in length spanning the base pairs 64,186,312 - 64,222,296 on chromosome 12. There are 3 total ... The human C12orf66 protein is 446 amino acids in length with a molecular weight of 50kdal . C12orf66 contains the domain of ... C12orf66 is a protein that in humans is encoded by the C12orf66 gene. The C12orf66 protein is one of four proteins in the ...
... whereas all the other pairs of chromosomes replicate in the same temporal pattern. It was also noticed by Mary Lyon that the ... Watanabe Y, Maekawa M (2010) Spatiotemporal regulation of DNA replication in the human genome and its association with genomic ... Chromosome Res 18: 115-125. Taylor JH (1960) Asynchronous duplication of chromosomes in cultured cells of Chinese hamster. J ... Chromosome Res 18: 127-136. Schwaiger M, Stadler MB, Bell O, Kohler H, Oakeley EJ, et al. (2009) Chromatin state marks cell- ...
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 ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 4, Wikipedia articles needing ...
C. sinensis has 28 pairs of chromosomes (2n=56) in a cell. The chromosome pairs are groups in two: 8 large group and 20 small ... It infects fish-eating mammals, including humans. In humans, it infects the common bile duct and gall bladder, feeding on bile ... Endemic to Asia and Russia, C. sinensis is the most prevalent human fluke in Asia and third-most in the world. It is still ... Humans are the major definitive hosts. Infection occurs when raw or undercooked fish contaminated with the metacercariae is ...
... , also known as fibrinogen gamma gene (FGG), is a human gene found on chromosome 4. The protein encoded ... by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein composed of three pairs of nonidentical ...
... is located on the short arm of chromosome 16 in humans, in the thirteenth open reading frame. There are five transcript ... The primary transcript of this gene is 1,919 base pairs long. Using the Dotlet program, a dot plot was constructed comparing ... The human expression profile from NCBI UniGene suggests that this gene has widespread expression in many different tissues in ... "Homo sapiens chromosome 16, GRCh37.p5 Primary Assembly - Nucleotide - NCBI". 2012-04-04. Retrieved 2012-05-18 ...
Tamura T, Izumikawa Y, Kishino T, Soejima H, Jinno Y, Niikawa N (1994). "Assignment of the human PAX4 gene to chromosome band ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 7, Wikipedia ... Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes ...
The promoter for transcript variant 1 (GXP_263623) spans the base pairs 86892213-86893422 on chromosome 4. C4orf36 encodes a ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 4). ... human)] - Gene - NCBI". Retrieved 2021-12-18. "AceView: Gene:C4orf36, a comprehensive annotation of human ... No human paralogs for c4orf36 have been identified. RNA-seq and microarray data indicate that the c4orf36 gene is most highly ...
The gene product is a 1,441 base pair mRNA with 8 predicted exons in the human gene. As predicted by Ensemble, there exists one ... Genes on human chromosome 19, Commons category link from Wikidata). ... The human form as 323 amino acid residues, with an isoelectric point of 5.618 and a molecular mass of 37,086 Daltons. There are ... Coiled-coil domain containing 94 (CCDC94), is a protein that in humans is encoded by the CCDC94 gene. The CCDC94 protein ...
"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 ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 2). ... In human c2orf81, phosphorylation is expected to be undergone only in serines, but not in any threonines or tyrosines. O-linked ...
In humans, the gene that codes for this enzyme is located on the long arm of chromosome 3 (3q13). This bifunctional enzyme has ... In Salmonella typhimurium, a new pair of antiparallel β-sheets is created and five new interatomic contacts are formed in the ... Portal: Biology (Genes on human chromosome 3, EC 4.1.1, EC 2.4.2). ... "Localization of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization". Genomics ...
... is caused by mutations in both copies of the CENPF gene, located on the long arm of chromosome 1. CENPF codes ... They are made by the centrosome, which contains a pair of cylindrical centrioles at right-angles to each other. Before division ... Badano JL, Mitsuma N, Beales PL, Katsanis N (1 September 2006). "The ciliopathies: an emerging class of human genetic disorders ... Filges I, Stromme P (January 2020). "CUGC for Stromme syndrome and CENPF-related disorders". European Journal of Human Genetics ...
Odz1 to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-3. doi:10.1006/geno.1999.5798. PMID ... Levine A, Bashan-Ahrend A, Budai-Hadrian O, Gartenberg D, Menasherow S, Wides R (May 1994). "odd Oz: A novel Drosophila pair ... Odz1to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-103. doi:10.1006/geno.1999.5798. PMID ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 4). ...
number of base pairs = mass in pg × 9.78 × 10 8 {\displaystyle {\text{number of base pairs}}={\text{mass in pg}}\times 9.78\ ... These species have become a considerable threat to human health, as they are often capable of evading human immune systems and ... I. DNA-content and chromosome sets in various species of Cyprinidae". Humangenetik. 7 (3): 240-244. doi:10.1007/BF00273173. ... or as the total number of nucleotide base pairs, usually in megabases (millions of base pairs, abbreviated Mb or Mbp). One ...
It has 2 pairs of petals, 3 large sepals (outer petals), known as the 'falls' and 3 inner, smaller petals (or tepals, known as ... It has a chromosome count: 2n=20. It was also counted as 2n=22, 44 by (Zahareva and Makeushenko 1968) and (Fedorov 1969). It is ... Some of these compounds had some antioxidant activity in certain cells and some effected yeast cells expressing human estrogen ... As most irises are diploid, having two sets of chromosomes. This can be used to identify hybrids and classification of ...
"Gene promoters show chromosome-specificity and reveal chromosome territories in humans". BMC Genomics. 14 (278): 278. doi: ... These pairs of promoters can be positioned in divergent, tandem, and convergent directions. They can also be regulated by ... Furthermore, in humans, promoters show certain structural features characteristic for each chromosome. In bacteria, the ... "Prevalence of the initiator over the TATA box in human and yeast genes and identification of DNA motifs enriched in human TATA- ...
"Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724-731. Bibcode:2005Natur. ... FAM178B spans 110,720 base pairs, and contains 827 amino acids. There are two isoforms of the gene transcript that exist by ... FAM178B is a protein coding that is located on the plus strand of chromosome 2. The locus for the gene is 2q11.2. It is also ... "Human BLAT Search". Retrieved 2019-04-21. "TimeTree :: The Timescale of Life". Retrieved ...
Genes on human chromosome 9). ... It has a length of 750 base pairs. The transcription start site ... The promoter for TTC39B starts at base pair 15,307,109 and ends at base pair 15,307,858. ... The gene for TTC39B is located on the short arm of the ninth chromosome at 9p22.3. The genomic DNA is 136,517 bases long, ... On a locus on chromosome 9p22 found to be associated with high-density lipoprotein (HDL-C), TTC39B was the only one of several ...
This sequencing revealed that the human mtDNA includes 16,569 base pairs and encodes 13 proteins. Since animal mtDNA evolves ... Medusozoa and calcarea clades however have species with linear mitochondrial chromosomes. In terms of base pairs, the anemone ... HVR1, for example, consists of about 440 base pairs. These 440 base pairs are compared to the same regions of other individuals ... Human mitochondrial DNA was the first significant part of the human genome to be sequenced. ...
... located on human chromosome 8, has been labeled as the gene responsible for Roberts syndrome. In fact, ESCO2 is the only known ... A prenatal diagnosis of Roberts syndrome requires an ultrasound examination paired with cytogenetic testing or prior ... The new cells typically will have too many or too few chromosomes. The odd number of chromosomes causes the defective cells to ... Chromosomes that have HR experience separation of the heterochromatic regions during metaphase. Chromosomes with these two ...
"The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21". Annals of Human Genetics. 58 (1): 25-34. ... Human embryonic stem cells (hESCs) are able to undergo lineage-specific differentiation into specific types of cells, known as ... ZTTK syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare disease caused in humans by a genetic mutation of the SON gene. ... SON is located within the human chromosomal region 21q22.11 in nuclear speckles and consists of 12 exons. Exon 3 of the SON ...
During the process of mitosis the pairs of chromosomes condense and attach to microtubules that pull the sister chromatids to ... Many human cancers possess the hyper-activated Cdk 4/6 activities. Given the observations of cyclin D-Cdk 4/6 functions, ... Cell Cycle, Chromosomes and Cancer. Vol. 15. Miami Beach, FL: University of Miami School of Medicine. Alter O, Golub GH ( ... In this checkpoint, the cell checks to ensure that the spindle has formed and that all of the chromosomes are aligned at the ...
Articles with short description, Short description matches Wikidata, Genes on human chromosome 3, All articles with unsourced ... Martinet L, Smyth MJ (April 2015). "Balancing natural killer cell activation through paired receptors". Nature Reviews. ... Human chromosome 3 gene stubs, Wikipedia articles incorporating text from the United States National Library of Medicine). ... CD96 (Cluster of Differentiation 96) or Tactile (T cell activation, increased late expression) is a protein that in humans is ...
For this sample, a better estimate would be that 95% of the base pairs are exactly shared between chimpanzee and human DNA." ... April 2015). "A recent bottleneck of Y chromosome diversity coincides with a global change in culture". Genome Research. 25 (4 ... Evolutionary biology portal Evolution of human intelligence Graphical timeline of the universe Human evolution Recent human ... The timeline of human evolution outlines the major events in the evolutionary lineage of the modern human species, Homo sapiens ...
The paper examined the global distribution of SINEs in mouse and human chromosomes and determined that this distribution was ... SINEs have 50-500 base pair internal regions which contain a tRNA-derived segment with A and B boxes that serve as an internal ... often leading to disease phenotypes in humans and other animals. Insertion of Alu elements in the human genome is associated ... There are >50 human diseases associated with SINEs. When inserted near or within the exon, SINEs can cause improper splicing, ...
The human LECT2 gene, LECT2, is located on the long, i.e, "q", arm of chromosome 5 at position q31.1 (notated as 5q31.1). This ... 8,000 base pairs. The gene has numerous single nucleotide variants as well as other variations, some of which have been ... 2004). "The DNA sequence and comparative analysis of human chromosome 5". Nature. 431 (7006): 268-74. doi:10.1038/nature02919. ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 5). ...
Genes on human chromosome 17, Keratins, All stub articles, Human chromosome 17 gene stubs). ... Keratin 16 is a protein that in humans is encoded by the KRT16 gene. Keratin 16 is a type I cytokeratin. It is paired with ... "A group of type I keratin genes on human chromosome 17: characterization and expression". Mol. Cell. Biol. 8 (2): 722-36. doi: ... "Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12". Cytogenet. Cell Genet. 57 (1): 33- ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and other consequences ... Thus, the likelihood of deleterious recessive alleles to pair is significantly higher in a small inbreeding population than in ... ISBN 978-3-540-37654-5. Ober C, Hyslop T, Hauck WW (January 1999). "Inbreeding effects on fertility in humans: evidence for ...
Genes on human chromosome 2, Protein pages needing a picture, Genes on human chromosome 15, Genes on human chromosome 20, Genes ... The lone pair of electrons moves down kicking off the lone pairs that were making the double bond. This lone pair of electrons ... Mtb ICDH-1 is most structurally similar to the R132H mutant human ICDH found in glioblastomas. Similar to human R132H ICDH, Mtb ... In humans, IDH exists in three isoforms: IDH3 catalyzes the third step of the citric acid cycle while converting NAD+ to NADH ...
The two pairs of membranous wings are held together by small hooks and the forewings are larger than the hind ones; in some ... Males, called drones, have a haploid (n) number of chromosomes and develop from an unfertilized egg. Wasps store sperm inside ... the existing workers search for sugary foods and are more likely to come into contact with humans. Wasp nests made in or near ... Females are diploid, meaning that they have 2n chromosomes and develop from fertilized eggs. ...
Genes on human chromosome 3, Protein pages needing a picture, Human gene pages with Wikidata item). ... C3orf62 starts at 49,268,597 base pairs from the terminus of the short arm (pter) and ending at 49,277,909 base pairs pter. ... Chromosome 3 Open Reading Frame 62 (C3orf62), is a protein that in humans is encoded by the C3orf62 gene. C3orf62 is a glycine ... C3orf62 human protein (Q6ZUJ4) is 267 amino acids long, and has a molecular mass of 30,194 Daltons. The isoelectric point of ...
This breakthrough helped further relate OCD in humans to CCD in canines. Canine chromosome 7 is expressed in the hippocampus of ... Rats became significantly more tolerant to morphine when they had been exposed to a paired administration than those rats that ... A chromosome has been located in dogs that confers a high risk of susceptibility to OCD. Canine chromosome 7 has been found to ... It can be difficult to attribute human conditions to non-human animals. Obsessive-compulsive behavior in animals, often called ...
... 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 ... CS1 French-language sources (fr), CS1 German-language sources (de), Human MHC haplogroups, Human MHC mediated diseases, Human ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ...
These paired genes that control the same trait is classified as an allele. In an individual, the allelic genes that are ... Genes are a fundamental part of DNA that is aligned linearly on a eukaryotic chromosome. Chemical information that is ... human genetics, medical genetics, and much more. Thus, reinforcing Mendel's nickname as the father of modern genetics. In other ... Many pairs of alleles have differing effects that are portrayed in an offspring's phenotype and genotype. The phenotype is a ...
"Infection and Immunity Immunophenotyping (3i) Consortium". (Genes on human chromosome 11, Animal proteins, Fertility, Mammal ... Mayer K (16 April 2014). "Sperm/Egg Fusion Depends on Pairing of His/Her Proteins". Genetic Engineering & Biotechnology News. ... folate receptor delta or IZUMO1R is a protein that in humans is encoded by the FOLR4 gene. Juno is a member of the folate ... including humans. Being previously elusive, Juno was discovered nine years after its male counterpart, Izumo1. The crystal ...
v t e (Genes on human chromosome 13, Collagens, All stub articles, Human chromosome 13 gene stubs). ... this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common ... Collagen alpha-2(IV) chain is a protein that in humans is encoded by the COL4A2 gene. This gene encodes one of the six subunits ... Pöschl E, Pollner R, Kühn K (1988). "The genes for the alpha 1(IV) and alpha 2(IV) chains of human basement membrane collagen ...
For example, probes may be designed to target various regions of chromosome 21 of a human cell. The signal strengths of the ... Pairs of probes are hybridized to the sample DNA, with each probe pair designed to query for the presence of a particular DNA ... to give the PCR product a unique length when compared to other probe pairs in the MLPA assay. Each complete probe pair must ... Although dosage quotients may be calculated for any pair of amplicons, it is usually the case that one of the pair is an ...
Weak identity between chromosomes results in meiotic pairing that yields only two possible genotypes of sperm, X1X2X3X4X5 or ... This similarity to primates and humans allows it to see distant objects clearly. Unlike placental mammals, including humans, ... for humans. This part of the brain in humans is thought to be used for planning and analytical behaviour, leading to debate as ... in which males have four Y chromosomes and five X chromosomes. Males appear to be X1Y1X2Y2X3Y3X4Y4X5 (figure), while females ...
Since each centrosome has a K fiber connecting to each pair of chromosomes, the chromosomes become tethered in the middle of ... "The Human Protein Atlas". Archived from the original on 2017-05-01. Retrieved 2017-04-27. Hirokawa N, ... As the K fibers shorten the pair chromosomes are pulled apart right before cytokinesis. Previously, some researchers believed ... For example, +TIPs have been observed to participate in the interactions of microtubules with chromosomes during mitosis. The ...
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 4" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... This graph shows the total number of publications written about "Chromosomes, Human, Pair 4" by people in this website by year ... Below are the most recent publications written about "Chromosomes, Human, Pair 4" by people in Profiles. ...
Chromosomes, Human, Pair 2* * Chromosomes, Human, Pair 4* * Cohort Studies * Female * Genetic Linkage* ... A genome-wide screen was performed on a large cohort of dizygous twin pairs to identify regions of the genome that contain QTL ... we performed a genome-wide screen on a large cohort of dizygous twin pairs. Unselected female dizygous twins from 1067 ... relevant to bone density or structure on chromosomes 1, 2, 13, 14, and X. ...
... base pairs) and represents between 4 and 4.5 percent of the total DNA in cells. Learn about health implications of genetic ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 11, one copy inherited from ... chromosome consisting of a piece of chromosome 22 attached to a piece of chromosome 11. The extra chromosome is known as a ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...
Chromosomes, Human, Pair 4 Medicine & Life Sciences 87% * Chromosomes Medicine & Life Sciences 69% ... Extrachromosomal DNA seemed to originate from a B-group chromosome. A chromosome 4 painting probe hybridized (FISH) with the ... Extrachromosomal DNA seemed to originate from a B-group chromosome. A chromosome 4 painting probe hybridized (FISH) with the ... Extrachromosomal DNA seemed to originate from a B-group chromosome. A chromosome 4 painting probe hybridized (FISH) with the ...
... each chromosome will be paired one from mother and father ... Chromosomes are contained in the nucleus of a cell, spread out ... Starts with one human cell containing 46 chromosomes. Ends up with 2 cells each containing 46 chromosomes. ... called X chromosome and 46 would be called a Y chromosome.. If this cell was from a female, 45 would be called X chromosome and ... The pairs carry the same type of genes along their length. Within each pair you inherit one chromosome from your mother and one ...
Chromosome Inversion 67% * Chromosomes, Human, Pair 16 57% * Chromosomes, Human, Pair 4 56% ... Paracentric inversions in humans: A review of 446 paracentric inversions with presentation of 120 new cases. Pettenati, M. J., ... Klee, G., Rider, C. T., Naessens, J. & Angstman, G., Dec 1 1994, In: Journal of Clinical Immunoassay. 17, 4, p. 205-209 5 p.. ... Harris, P. C., Ward, C. J., Peral, B. & Hughes, J., 1995, In: Journal of the American Society of Nephrology. 6, 4, p. 1125-1133 ...
Chromosomes, Human, Pair 2 Medicine & Life Sciences 10% * Gene Fusion Medicine & Life Sciences 4% ... Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of ... Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of ... Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of ...
1. Single-gene inheritance, 2. Multifactorial inheritance disorder, 3. Damage to the chromosomes; and 4. Mitochondrial genetic ... The human genome is made up of the 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes). These 46 ... The human genome is made up of the 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes). These 46 ... Genetic Diseases - Chromosome Abnormalities Which genetic disease with chromosome abnormalities do you or someone you know have ...
Firstly, most of the human DNA is identical between two unrelated individuals. This is estimated to 99.5% for individuals from ... who have two X chromosomes and therefore have symmetrical pairs of chromosomes. Men receive a shorter Y chromosome from their ... Their second X chromosome is also an random admixture.. The Y chromosome continuity. The only chromosome that survives the test ... The autosomal DNA (the 23 pairs of chromosomes minus X and Y) always works in pair. Wherever you look at the DNA sequence there ...
Human, Pair 20" by people in this website by year, and whether "Chromosomes, Human, Pair 20" was a major or minor topic of ... A specific pair of GROUP F CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 20" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 20" by people in Profiles. ...
Human, Pair 7" by people in this website by year, and whether "Chromosomes, Human, Pair 7" was a major or minor topic of these ... A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 7" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 7" by people in Profiles. ...
Human, Pair 19" by people in this website by year, and whether "Chromosomes, Human, Pair 19" was a major or minor topic of ... A specific pair of GROUP F CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 19" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 19" by people in Profiles. ...
In the human genome, FURIN and FES are located adjacent to one another on the distal q arm of human chromosome 15 (HSA15) in ... Technical Abstract: Fragment of the porcine feline sarcoma oncogene (FES) gene and paired basic amino acid cleaving enzyme gene ... In the human genome, FURIN and FES are located adjacent to one another on human chromosome 15q26. These genes were expected to ... Title: MAPPING OF THE FES AND FURIN GENES TO PORCINE CHROMOSOME 7 Author. ERNST, C.W. ...
Chromosomes, Human, Pair 4 24% * Quantitative Trait Loci 23% * Inbred Strains Mice 23% ... Human ALOX12, but not ALOX15, is associated with BMD in white men and women. Ichikawa, S., Koller, D. L., Johnson, M. L., Lai, ... Ethanol inhibits human osteoblastic cell proliferation. Klein, R. F., Fausti, K. A. & Carlos, A. S., 1996, In: Alcoholism: ... A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia. Tian, W. ...
in humans) A YAC is duplicated when a yeast has been divided. YACs can carry million base pair long fragments of human DNA. ... Joe Hin Tjio had discovered the exact number of chromosomes that each human recieves. He was first interested in cancer cells. ... BAC stand for bacterial artificial chromosome. It is a peice of human DNA fitted into a bacterial vector. ... The International Human Genome Sequencing Consortium announced the successful completion of the Human Genome Project more than ...
The Y-Chromosome in Animals. The Y-chromosome is one of a pair of chromosomes that determine the genetic sex of individuals in ... Beginning in the 1980s, many studies of human populations used the Y-chromosome gene sequences to trace paternal lineages. ... In an adult organism, the genes on the Y-chromosome help produce the male gamete, the sperm cell. ... enabled scientists to confirm the hypothesis that chromosomes determine the sex of developing organisms. ...
Human chromosomes 1 through 22 are called autosomes, and the final or 23rd chromosome is a pair of sex chromosomes, so-called ... The 23rd pair of chromosomes are two special chromosomes, X and Y, that determine our sex. Females have a pair of X chromosomes ... What is chromosome theory of inheritance?. Define the chromosome theory of inheritance as "genes are located on chromosomes" ... What does the 23rd pair of chromosomes determine?. ... What does the 23rd pair of chromosomes determine?. *Why is my ...
Chromosomes. National Human Genome Research Institute (NHGRI), National Institute of Health (NIH), Bethesda, Maryland, USA. ... The homology of cancer and disease related genes found in both the genomes of D. melanogaster and humans is significant [7, 8 ... Reiter LT, Potocki L, Chien S, Gribskov M, and Bier E: A Systematic Analysis of Human Disease-Associated Gene Sequences In ... Its genome is fully sequenced and the disease related genes show appreciable homology to those of humans. The routine workflow ...
Chromosome pairing does not contribute to nuclear architecture in vegetative yeast cells. Lorenz, A., Fuchs, J., Loidl, J. & ... What do we know about the biology of the emerging fungal pathogen of humans Candida auris? Bravo Ruiz, G. & Lorenz, A., Jan ... Roles of Hop1 and Mek1 in meiotic chromosome pairing and recombination partner choice in Schizosaccharomyces pombe. Latypov, V. ... Brown, S. D., Audoynaud, C. & Lorenz, A., Jun 2020, In: Chromosome Research. 28, p. 195-207 13 p.. Research output: ...
"In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes ... The 23rd pair, the sex chromosomes, differ between males and females. Females have two copies of the X chromosome, while males ... Since God made a very good world, with no flaws, and since that world included humans created as men and humans created as ... have one X and one Y chromosome.". ...
... that employs fusion between human and rodent cells to create stable hybrids that contain only a subset of the human chromosomes ... In addition to the SDHC exon 6,11 the following PCR primer pairs located near SDHC exon 6 amplified a product at the expected ... from the hybrids containing the normal chromosome 1 but did not amplify from the hybrids containing the disease chromosome 1: ( ... The SDHC gene is localised at the long arm of chromosome 1 at band q23.3 at the UCSC genome database, which is far more distal ...
Chromosomes, Human, Pair 8 Medicine & Life Sciences 8% * Chromosomes, Human, Pair 4 Medicine & Life Sciences 8% ... Multiple suggestive QTLs for alcohol intake on chromosomes (Chrs) 2, 6, and 12 were identified for the first 4 h exposure. ... Multiple suggestive QTLs for alcohol intake on chromosomes (Chrs) 2, 6, and 12 were identified for the first 4 h exposure. ... Multiple suggestive QTLs for alcohol intake on chromosomes (Chrs) 2, 6, and 12 were identified for the first 4 h exposure. ...
A human genome is approximately 6 billion base pairs, or letters of DNA code. ... encoded within 2 metres of DNA packed tightly into each of our cells as chromosomes. ... contributions to medical science that will change the directions of science and medicine and have major impacts on human health ... scale integration of genomic and phenomic data will reveal an unprecedented understanding of relationships between the human ...
The gene encoding C1orf43 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and ... anti-Chromosome 1 Open Reading Frame 43 (C1orf43) (AA 11-100) antibody (Cy5) C1orf43 Reaktivität: Human IF (cc), IF (p) Wirt: ... anti-Chromosome 1 Open Reading Frame 43 (C1orf43) (AA 179-228) antibody C1orf43 Reaktivität: Human, Affe WB Wirt: Kaninchen ... anti-Chromosome 1 Open Reading Frame 43 (C1orf43) (Middle Region) antibody C1orf43 Reaktivität: Human WB Wirt: Kaninchen ...
MCB 149: The Human Genome (3 units; Syllabus). Prerequisites: MCB 102 or MCB c100A, MCB 104 or MCB 140, MCB 110. This is an ... MCB C134: Chromosome Biology/Cytogenetics (3 units; Syllabus). Prerequisites: MCB 104 or 140. Survey of behavior, structure, ... Non-Mendelian and epigenetic modes of inheritance of transposable elements, prions and chromatin states are paired with ... and function of chromosomes with emphasis on behavior in model organisms. Topics include mitosis, meiosis, chromosome ...
A normal human karyotype consists of 23 pairs of chromosomes. Each pair is numbered 1 through 22 and the twenty-third pair are ... Frequently, with routine chromosome analysis, it is possible to identify that the short arm of chromosome 4 is missing some ... On each chromosome are hundreds of genes that determine how our bodies look and function. WHS is a contiguous gene syndrome. A ... At times, the deletion is so small that it cannot be detected by routine chromosome analysis. If a patient is suspected to have ...
... chromosomes The extra chromosome seems to match the pair of chromosomes classified as 21 the chromosomes are numbered in pairs ... The Human Life Foundation, Inc.. The Human Life Review. 271 Madison Avenue, Room 1005. New York, New York 10016. (212) 685-5210 ... THE HUMAN LIFE REVIEW upon reliable instincts human beings live an existence of incertitude and risk There can be no doubt that ... THE HUMAN LIFE REVIEW , FALL 1982. the HUMAN LIFE REVIEW FALL 1982 Featured in this issue Joseph Sobran on Secular Humanism ...
Chromosomes, Human, Pair 4 100% * Tobacco Use Disorder 91% * GABA Receptors 90% ... Genetic linkage to chromosome 22q12 for a heavy-smoking quantitative trait in two independent samples. Saccone, S. F., Pergadia ... Genes identified in rodent studies of alcohol intake are enriched for heritability of human substance use. Huggett, S. B., ... Twin Research and Human Genetics. 17, 4, p. 244-253 10 p.. Research output: Contribution to journal › Article › peer-review ...
  • For most genes on this chromosome, both copies of the gene are expressed, or "turned on," in cells. (
  • A chromosome 4 painting probe hybridized (FISH) with the chromosome 4 library detected a translocation chromosome and a pulverized chromosome originating from chromosome 4, PTC-1113A is, to our knowledge, the single papillary thyroid cancer cell line demonstrating evidence of gene amplification. (
  • The RMDN2 gene locates at the short arm of chromosome 2 between ALK and EML4 genes. (
  • Genetic disorders can range from a defect in a single base mutation in the DNA of one gene to chromosomal abnormalities that involve deletion or addition of entire chromosomes or sets of chromosomes. (
  • X-linked disorders refer to diseases for which the defective gene is present on the female (X) chromosome. (
  • Imagine that you are looking at a DNA sequence on one gene known to have polymorphisms (i.e. variations from one person to another) in that 0.5% of DNA that is not identical in all human beings. (
  • Two genes feline sarcoma oncogene (FES) and paired basic amino acid cleaving enzyme gene (FURIN) were mapped in the genome of the pig. (
  • Fragment of the porcine feline sarcoma oncogene (FES) gene and paired basic amino acid cleaving enzyme gene (FURIN) were amplified and terminally sequenced. (
  • The FES gene was mapped to chromosome 7 position 82 cM. (
  • Human ornithine decarboxylase-encoding loci: nucleotide sequence of the expressed gene and characterization of a pseudogene. (
  • Beginning in the 1980s, many studies of human populations used the Y-chromosome gene sequences to trace paternal lineages. (
  • Define the chromosome theory of inheritance as "genes are located on chromosomes" and know that chromosomes can be solo or paired with homologs that contain the same genes but possibly different gene variants, called alleles. (
  • A contiguous gene syndrome occurs when a chromosome is either missing material (deletion) or has extra material (duplication) of several genes in the same region of the chromosome. (
  • This gene, termed Cchl2a, was mapped near the centromeric end of the Chromosome 5 linkage group with gene order: centromere-Pgy-1-Cchl2a-Il-6-Pgm-1. (
  • The 5,874 genes encoded on chromosome 5 reveal several new functions in plants, and the patterns of gene organization provide insights into the mechanisms and extent of genome evolution in plants. (
  • The mature larvae show giant chromosomes in the salivary glands called polytene chromosomes -"puffs" indicate regions of transcription and hence gene activity. (
  • The major phenotypic features of Down syndrome have been correlated with partial trisomies of chromosome 21, allowing us to define the candidate gene region to a 4-Mb segment on the 21q22.2 band. (
  • We hypothesize that the tetO gene and a phage were inserted into the chromosome after conjugation, leaving a remnant plasmid that was lost from isolates from company C. The emergence and rapid spread of a resistant clone of C. jejuni in New Zealand, coupled with evolutionary change in the accessory genome, demonstrate the need for ongoing Campylobacter surveillance among poultry and humans. (
  • Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia. (
  • To limit the query to a specific position, type a chromosome name, e.g. chrX , or a chromosome coordinate range, such as chrX:100000-200000, or a gene name or other id in the text box. (
  • Human DNA gene sequencing has long been known for Chromosome 8, commonly known as the God Gene for its specific effect on Human Behaviors (see definition in next section). (
  • The PCR test template (gene sequence) for the "lab test" also is the same as that found on Chromosome 8, and it has also been found in Swabs used to collect nasal cell samples. (
  • FANCB is the one exception to FA being autosomal recessive , as this gene is on the X chromosome. (
  • In this variant, a 16-base pair frame shift duplication occurs at exon 15 of the HPS1 gene. (
  • DYT1 are caused by a 3-base pair in-frame deletion within the coding region of the TOR1A (torsinA) gene located on chromosome 9q34. (
  • Hereditary progressive dystonia with marked diurnal fluctuation, or Segawa disease, is an autosomal dominantly inherited dopa-responsive dystonia (DRD) caused by heterozygous mutations of the GCH1 gene located on chromosome 14q22.1-q22.2. (
  • The first step in dna splicing is to locate a specific gene of interest on a chromosome. (
  • The structural chromosome alterations may arise at the chromosome level (e.g., translocations and gains or losses of large portions of chromosomes) or at the nucleotide level, which influence gene structure or expression such as mutations, insertions, deletions, gene amplifications, and gene silencing by epigenetic effects ( Jefford and Irminger-Finger, 2006 ). (
  • Chromosome and gene. (
  • In support of this idea are the linea that the colorectal tumor suppressor protein DCC has some structural homology to LAR438 and that the LAR gene maps to a linds on chromosome 1p32-33 that is thought e contain a breast cancer tumor sup- pressor gene. (
  • Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 22. (
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 11. (
  • The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. (
  • Routine G banding with trypsin in Cytogenetics is useful as it gives each chromosome a distinctive banded pattern that enable a clear identification of isolate or discrete regions all along each chromosome and the opportunity to examine for chromosomal imbalance by standard microscopic. (
  • The duplication of chromosome 1 between bands E2 and H1 was the most significant chromosomal change in the invasive cell strains. (
  • In addition, the chromosomal loci associated with invasion are amplified in both mouse and human lung cancer. (
  • The researchers applied a method called 'Hi-C' (High-throughput Chromosome Conformation Capture) to samples from patients with developmental disorders suspected to be caused by chromosomal rearrangements. (
  • The classical analysis of chromosomal defects is done by a karyogram, which is a microscopic view of stained chromosomes. (
  • Many FA patients (about 30%) do not have any of the classic physical findings, but diepoxybutane chromosome fragility assay showing increased chromosomal breaks can make the diagnosis. (
  • 2005). In another model, such chromosomal indicators promote MT development inside the clusters of PM chromosomes, accelerating the primarily lateral MTCkinetochore attachments in PM (Magidson et al. (
  • As a major form of genomic instability, chromosomal instability comprises aberrant chromosome numbers (i.e., aneuploidy or polyploidy) and structural changes in chromosomes. (
  • A genome-wide screen was performed on a large cohort of dizygous twin pairs to identify regions of the genome that contain QTL for QUS of bone. (
  • To identify regions of the genome that contain quantitative trait loci (QTL) for QUS of bone, we performed a genome-wide screen on a large cohort of dizygous twin pairs. (
  • Genome-wide copy number variants were found in multiple chromosome arms and the short arm of chromosome 2, suggestive of complex rearrangements. (
  • The human genome is made up of the 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes). (
  • The actual protein-coding genes account for less than 5% of the human genome. (
  • Some researchers include mitochondrial DNA as part of the human genome. (
  • In the human genome, FURIN and FES are located adjacent to one another on human chromosome 15q26. (
  • Localizing these genes in the pig genome improves the human-pig comparative map thus facilitating identification of positional candidate genes to study which affect fat deposition. (
  • In the human genome, FURIN and FES are located adjacent to one another on the distal q arm of human chromosome 15 (HSA15) in the cytogenetic band q26.1 Genes located in this region are conserved on the proximal q arm of SSC7. (
  • In 1990 the National Institutes of Health and department of Energy to establish a new set of goals for the Human Genome Project. (
  • Its genome is fully sequenced and the disease related genes show appreciable homology to those of humans. (
  • it is the second largest Arabidopsis chromosome and represents 21% of the sequenced regions of the genome. (
  • The sequence of chromosomes 2 and 4 have been reported previously and that of chromosomes 1 and 3, together with an analysis of the complete genome sequence, are reported in this issue. (
  • In the human genome, more than 360000 potentially G4-forming sequences can be found. (
  • The 36 bp tags were aligned to the human genome using the ELAND algorithm. (
  • The projection of the maps of genomic imbalances identified in human breast carcinomas onto the mouse genome shows that a considerable proportion of genomic imbalances occur in both species, however, the comparative maps do not result in "mirror" images of genomic imbalances. (
  • both clades were associated with human infection, 1 with poultry companies A and B and the other with company C. Accessory genome evolution was associated with a plasmid, phage insertions, and natural transformation. (
  • At the beginning of this series, we observed that many of the topics covered in Adam and the Genome are not relevant to whether Adam and Eve existed as the progenitors of the human race. (
  • For more details, please see " Adam and the Genome and Human-Ape Genetic Similarity . (
  • For more details, please see " Adam and the Genome and Human Genetic Diversity ," " Adam and the Genome and Citation Bluffing ," and " Adam and the Genome and 'Predetermined Conclusions' . (
  • Deploying the Whole Genome Sequence In Medicine and Public Health, One Base Pair At A Time. (
  • Introduction: The Human Genome Project (HGP) has allowed for advances in diagnosis and prevention of diseases. (
  • The Human Genome Project (HGP) started in the United States of America aiming at sequencing and mapping the human genetic code. (
  • In 2003, the sequencing of almost all human genome (HG) was announced. (
  • We combine both Illumina (short reads) and PacBio (long reads) platforms to achieve whole genome de novo assemblies and re-sequencing for viruses, microbes , plants, animals and humans . (
  • In the experiment "Population structure of Chinese southwest wheat germplasms resistant to stripe rust and powdery mildew using the DArT-seq technique", published in Ciência Rural (vol. 48, no. 4), the researchers genotyped the whole genome of wheat cultivars from southwestern China using the DART-seq™ technique. (
  • In the analysis, they obtained 30,485 markers and two groups of wheat varieties, identified by means of principal-coordinate analysis (PCoA) at the whole genome level and at the 6AS chromosome level. (
  • The male chromosome is called an X, and the female is a Y. Females have two X chromosomes (XX), while males have one X and one Y chromosome (XY). (
  • Males have one X chromosome, but females have two X chromosomes. (
  • The Y chromosome is present in males, who have one X and one Y chromosome, while females have two X chromosomes. (
  • Increased copy number and expression of the genes on mouse chromosome 1 may play a functional role in lung cancer development and may aid in the identification of mouse and human lung cancer susceptibility genes. (
  • Amplification of mouse chromosome 4 in chemically induced and invasive mouse lung adenocarcinoma. (
  • Mouse chromosome 1 and 15 were amplified in 90% of the high-invasive cell strains. (
  • Chromosome abnormalities usually result from a problem with cell division and arise because of duplications or absences of entire chromosomes or pieces of chromosomes. (
  • The prognostic significance of trisomy 4 in acute myeloid leukaemia is dependent on age and additional abnormalities. (
  • Other organisms have a wide variety of numbers of chromosomes. (
  • Different species have different numbers of chromosomes. (
  • What does the 23rd pair of chromosomes determine? (
  • The 23rd pair of chromosomes are two special chromosomes, X and Y, that determine our sex. (
  • The remaining 23rd pair, called the sex chromosome, determines whether you're a male or female. (
  • The 23rd pair in gonadal cell called sex chromosome which is not always a perfect pair. (
  • Inside a living cell (plant and animal) is a nucleus which contains chromosomes. (
  • The cell's nucleus contains chromosomes. (
  • Humans have 46 chromosomes in each cell of their body and 23 pairs of autosomal chromosomes, and one pair of sex chromosomes, either X or Y, that are found in the nucleus of every cell (23 + 1 = 46). (
  • We have 23 pairs of autosomal chromosomes, two sex chromosomes, and one pair of gender-determining chromosomes. (
  • The number of the chromosomes was counted in pair as a diploid organism is comprised of 2 copies of every chromosome. (
  • Diploid organisms, such as humans, have chromosomes that come in homologous pairs (except for the sex chromosomes), with each parent contributing one chromosome per homologous pair. (
  • For researchers who wish to convert T/S ratio to base pairs (bp), the formula is (3,274 + 2,413 * (T/S)). The conversion from T/S ratio to bp is calculated based on comparison of telomeric restriction fragment (TRF) length from Southern blot analysis and T/S ratios using DNA samples from the human diploid fibroblast cell line IMR90 at different population doublings. (
  • HG consists of 23 pairs of chromosomes existing in all diploid cells of human beings, where DNA is found and all genetic features of an individual is stored 6 . (
  • As for diploid or polyploid organisms, we generally assemble one set of chromosomes. (
  • Wolf-Hirschhorn syndrome (WHS) refers to a condition that is caused by a missing part (deletion) of the short arm of chromosome 4. (
  • This syndrome was reported in 1965 in published reports by Wolf and Hirschhorn, who described that the characteristics of the syndrome were associated with a deletion of part of the short arm of chromosome 4. (
  • Frequently, with routine chromosome analysis, it is possible to identify that the short arm of chromosome 4 is missing some genetic material. (
  • Each cell (except for red blood cells) contains a nucleus that houses these chromosomes. (
  • There are 46 chromosomes in human body cells, spread out randomly within the nucleus. (
  • The diagram shows the relationship between the cell, its nucleus, chromosomes in the nucleus, and genes. (
  • In fact the human nucleus comprises of 22 pair of autosomal, and 2 pair of sex chromosomes. (
  • A human being is made up of an enormous number of cells, and inside every single cell, there's the nucleus. (
  • In the genetic material, inside the nucleus of a single cell, there are the complete instructions to create a human being and it's amazing to think that all that information is packaged inside your little bit of DNA which weighs about seven picograms. (
  • The DNA in the nucleus of your cell is packaged into 23 pairs of chromosomes. (
  • The chromosomes may be seen, and the nucleus is rather massive. (
  • Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 in the form of a der(22) chromosome. (
  • A translocation involving chromosome 11 can cause a type of cancerous tumor known as Ewing sarcoma. (
  • A balanced translocation is a rearrangement in the individual's chromosomes that causes that individual no problems since they have all the necessary genetic material that they need. (
  • When a parent is identified as being a carrier of a balanced translocation, with each pregnancy they have an increased chance for having a child with an unbalanced chromosome arrangement. (
  • Translocation breakpoints of chromosome 4 in male carriers: clinical features and implications for genetic counseling. (
  • Heterozygous germline inactivating mutations in SDHD , SDHC , and SDHB , which encode three of the four subunits of mitochondrial complex II (succinate dehydrogenase), cause hereditary paraganglioma types 1, 3, and 4 (PGL1, PGL3, and PGL4), respectively. (
  • Germline loss of function mutations followed by somatic loss of non-mutant alleles in the tumours 2- 4 suggests a tumour suppressor role for mitochondrial complex II in the paraganglia. (
  • Over 25 mutations in SDHD and 25 mutations in SDHB have been detected in hereditary paraganglioma, including those reviewed by Baysal 1 and the more recent additions of multiple mutations in SDHB 4- 6 and SDHD . (
  • Loss of chromosome 11 and 13, including the Trp53 and Ptch1 loci, respectively, occurred frequently in BCCs, suggesting tissue-specific selection for genes or pathways that collaborate with Ptch deficiency in tumorigenesis. (
  • Overgo hybridization patterns supported colinearity of loci in regions of sorghum chromosome 3 and rice chromosome I and suggested that a possible genomic inversion occurred in this syntenic region in one of the two genomes after the divergence of S. bicolor and O. sativa. (
  • In the nineteenth and twentieth centuries, the development of new microscopic and molecular techniques, including DNA sequencing, enabled scientists to confirm the hypothesis that chromosomes determine the sex of developing organisms. (
  • There exist shared "nonfunctional" pseudogenes between humans and chimps and other organisms. (
  • Humans have 23 pairs of chromosomes, for a total of 46. (
  • So, we humans have 23 pairs of chromosomes for a grand total of 46. (
  • Question 6: During which stage of mitosis is the chromosomes in their most condensed state and best for karyotyping? (
  • Methaphase is the best stage of cell division ( mitosis) where Chromosomes can be easily seen with a light microscope in their condensed form observed at 1000 x to carry out the karyotyping. (
  • Outcomes and dialogue Cell typeCspecific variety from the mitotic RanGTP and importin- cargo gradients To find out if the RanGTP gradient helps mitosis in every human being somatic cells or can be an version specific to particular forms of cells, we assessed RanGTP gradients inside a -panel of human being cells, including major cells, immortalized regular cells, cancer-derived cells, and tumorigenic cells (Fig. 1 and Desk S1). (
  • Previous reports suggest that electrical forces on cell structure proteins interfered with the chromosome separation during mitosis and induced apoptosis. (
  • People normally inherit one copy of chromosome 11 from each parent. (
  • Down syndrome is caused by an extra copy of chromosome 21. (
  • Two copies of chromosome 11, one copy inherited from each parent, form one of the pairs. (
  • These individuals have two normal copies of chromosome 11, two normal copies of chromosome 22, and extra genetic material from the der(22) chromosome. (
  • As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. (
  • Which is having 3 nstead of 2 copies of chromosomes. (
  • the two copies of chromosome #1 swap DNA with each other and then duplicate, creating two new chromosomes from one original. (
  • People with Down syndrome usually have three copies of this chromosome instead of two. (
  • Loss of entire copies of chromosomes 7, 8, and 14 were significant in the primary tumor cell cultures. (
  • While all DNA is stained blue, a specific sequence stained pink appears duplicated in one of the two copies of chromosome 17, but not the other. (
  • Telomeres are located in the end caps and protect the chromosomes against homologous and non-homologous recombination. (
  • The homologous linkage groups on human chromosomes 1q32-41, 2q, 8q24 and 8p are altered in invasive human lung cancer. (
  • The homologous linkage groups on human chromosomes 9p2I, 1p36, 9q and 8q are altered in asbestos -induced human lung adenocarcinoma. (
  • Each chromosome in a given homologous pair represents the same genes, but with different expressions (called alleles ) of those genes. (
  • Loss of the distal portion and duplication of the proximal region of chromosome 4 were observed in the primary tumor cell cultures. (
  • Duplication of the proximal region of chromosome 4 occurred in 22% of the spontaneously-occurring high-invasive cells strains and 83% of the chemically-induced high-invasive cell culrures. (
  • This strongly suggests functional reasons for the amino acid sequences of human and ape proteins, and shows their similarities can be explained as being due to functional requirements. (
  • Recently published research papers are now demonstrating how Human cells can rewrite RNA sequences into DNA Chromosomes. (
  • However, most of naturally occurring restriction enzymes recognize only 48 basepair sequences so that their scission sites statistically appear at every 4 4 256, 4 6 4096, and 4 8 65,536 basepair sequences, respectively. (
  • Chromosome 11 spans about 135 million DNA building blocks (base pairs) and represents between 4 and 4.5 percent of the total DNA in cells. (
  • These 46 chromosomes together contain over 3 billion base pairs of DNA that contain about 20,500 protein-coding genes. (
  • C base pairs (fig. 1). (
  • The chromosome pairs average about 1.1 million base pairs or nearly 6 feet long. (
  • They can even range from as small as 600,000 base pairs (2 feet) to over 2 million base pairs in some individuals! (
  • While comparisons across studies of telomere length in base pairs are commonly done, it is not highly accurate. (
  • Sep 22, 2022 Telomere vesicles retained the Rad51 recombination factor that enabled telomere fusion with T-cell chromosome ends lengthening them by an average of 3,000 base pairs. (
  • Figure 2C and D show the enrichment in two genomic regions on chromosome 3 and 12, respectively, containing EIF4A2 and GAPDH positive controls. (
  • In summary, the comprehensive molecular cytogenetic analysis of mouse models of breast cancers has shown that tumorigenesis requires, as in human cancers, the acquisition of distinct genomic imbalances. (
  • That being said, the BRCA1-associated mouse tumors reveal a distribution of genomic imbalances and a level of genomic instability that is most similar to human breast cancers. (
  • Spectral karyotyping, mapping with fluorescently labeled genomic clones, comparative genomic hybridization arrays, expression arrays, Western blot and real time polymerase chain reaction (PCR) were used to analyze nine pairs of high invasive and low invasive tumor cell strains derived from early passage lung adenocarcinoma cell strains. (
  • Mapping with fluorescent in situ hybridization and comparative genomic hybridization (CGH) array further narrowed the minimum region of duplication of chromosome 1 to 71 to 82 centimorgans (cM) as well as three deleted regions from 67-69 cM, 84-84 cM and 100-110 cM. (
  • As powerful tools to detect molecular changes associated with primary and invasive mouse lung adenocarcinoma cells, we used Spectral Karyotyping, mapping with fluorescently labeled genomic clones and comparative genomic hybridization on a BAC array to analyze 15 primary adenocarcinoma and 9 pairs of high and low invasive tumor cell cultures. (
  • You can select multiple genomic regions by clicking the 'define regions' button and entering up to 1,000 regions in a 3- or 4-field BED file format. (
  • We used Spectral Karyoryping (SKY), mapping with fluorescently labeled genomic clones (FISH), comparative genomic hybridization (CGH), expression array, real time polymerase chain reaction and Western blot to analyze 15 primary adenocarcinoma and 9 pairs of high and low invasive cell cultures to detect molecular changes. (
  • In collaboration with 4 state public health genomics programs, we have recently reported on consumer awareness and use of personal genomic tests using the 2009 Behavioral Risk Factor Surveillance System. (
  • At times, the deletion is so small that it cannot be detected by routine chromosome analysis. (
  • If a patient is suspected to have WHS and an obvious deletion is not detected by routine chromosome analysis, more detailed studies, including fluorescent in situ hybridization, are warranted and may identify the missing genetic material. (
  • This is also known as a de novo deletion and simply means that the affected individual's parents did not have any chromosome arrangement that led to the deletion. (
  • The duplication of chromosome 1 and 15 and deletion of chromosome 8 were significant in high invasive cultures compared to low invasive cultures. (
  • Investigations of the minimal region of alteration of chromosome 4 by fluorescent in situ hybridization (FISH) and BAC array demonstrated the deletion of a 3 centimorgan region in the middle portion of the chromosome. (
  • FISH mapping further narrowed the region of deletion of chromosome 4 to 39.6 centimorgans (cM) and the region of duplication to 10-35 cM. (
  • C1orf43, also known as Hepatitis C virus NS5A-transactivated protein 4 and Protein NICE-3, is a 253 amino acid single-pass membrane protein. (
  • This protein has the identical amino acid coding (sequence) found in Human DNA-Chromosome 8. (
  • The 0.5% to 0.1% of DNA that differs between two human beings are called alleles or SNP's (single nucleotide polymorphism). (
  • It is hard to tell which alleles belong to which set of chromosomes in heterozygous regions. (
  • The human body has nearly 1013 cells. (
  • Mosaicism for 4p-syndrome means that the individual has some cells that have normal number 4 chromosomes and other cells that are missing some of the genetic material from 4p. (
  • For example, yeast has 12, watermelon has 20, and salmon has 24 pairs of chromosomes in its cells. (
  • There are 23 pairs of chromosomes in human cells, with one member of each team inherited from your mother and one from your father. (
  • ChIP assays were performed using human HeLa cells, the Diagenode antibody against H4K5ac (cat. (
  • Western blot was performed on whole cell (25 μg, lane 1) and histone extracts (15 μg, lane 2) from HeLa cells, and on 1 μg of recombinant histone H2A, H2B, H3 and H4 (lane 3, 4, 5 and 6, respectively) using the Diagenode antibody against H4K5ac (cat. (
  • Question 3: Count the average number of chromosomes in 10 cells - show your workings. (
  • Particularly 82 number of chromosomes were approximately counted from each metaphase spread observe in this field of view containing Hela cells. (
  • It has been proven that the Human Papilloma virus (HPV) is the cause of the majority of different type of cervical cancers as all Hela cells contain HPV. (
  • The duplication of chromosome 1 and 15 were associated with the ability of cells to invade a gel matrix. (
  • The expression of cyclooxygenase 2 (COX-2), Kruppellike factor-4 (KLF4), Cyclin E and c-myc was significantly higher in the high-invasive cells strains compared to the low-invasive cell strains. (
  • 5. In 2001, France and Germany requested the United Nations General Assembly to develop international conventions on human reproductive cloning, therapeutic cloning and research on stem cells. (
  • A and Tideglusib C) Mitotic RanGTP gradients recognized with RBP-4 (A) and cargo gradients recognized with Rango-4 (C) by FLIM in various cells. (
  • The extra chromosome is known as a derivative 22 or der(22) chromosome. (
  • Down syndrome (DS) is the most common genetic disorder, resulting from an extra chromosome in pair 21. (
  • A team of researchers at the Max Planck Institute for Molecular Genetics and Charité - Universitätsmedizin Berlin led by human geneticists Malte Spielmann and Stefan Mundlos analyzed clinical samples from patients with genetic developmental disorders with the Hi-C method. (
  • As the team led by human geneticists Stefan Mundlos and Malte Spielmann describe in the current issue of The American Journal of Human Genetics , a method from basic research could improve clinical diagnostics considerably at some point in the future. (
  • Despite of the extraordinary importance that all new knowledge on human genetics will have in dental clinics, little efforts have been made to prepare undergraduates in relation to this new information and technology. (
  • Topics include: Darwinian evolution, genetics, a survey of the five kingdoms of life, principles of ecology, and human ecology. (
  • The genes are located close together in a region designated 11p15.5 near one end of the chromosome. (
  • Researchers, journalists, and inquiring minds want to know more about telomeres, which seem to hold clues to human aging and age-related diseases. (
  • Telomeres are a protective nucleoprotein structure at each chromosome end. (
  • Telomeres are small structures that protect the ends of your chromosomes. (
  • The cell line was growing as monolayer and showed a complex karyotype with chromosome numbers ranging from 30 to 140/metaphase. (
  • A normal human karyotype consists of 23 pairs of chromosomes. (
  • The karyotype is the number of chromosomes a human has. (
  • The karyotype for humans is 46. (
  • The human karyotype is 46. (
  • Condensed chromosome during metaphase spread could be stained with Giesma banding which is a useful analytical method in Cytogenetics to generate a visible karyotype. (
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (
  • Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. (
  • Lined up in order of size, these chromosomes look like this although chromosome 46 changes depending on whether the cell is from a female or a male. (
  • Smoking dysregulates the human airway basal cell transcriptome at COPD risk locus 19q13.2. (
  • In an adult organism, the genes on the Y-chromosome help produce the male gamete, the sperm cell. (
  • This means that the number of chromosomes in every cell in the human body is 46. (
  • If a male receives an X chromosome from his mother and another Y chromosome from his father, he will not be able to create another sperm cell with an X chromosome that can produce a female child when fertilized. (
  • If both X chromosomes in a sperm cell from a male have been mutated, then he may not be able to produce offspring. (
  • There are 23 chromosome pairs in the human cell. (
  • In total, there are 46 chromosomes in a human cell. (
  • The copy number of NUCKS and tubulin a-4 showed a trend for increased expression in the cell strains that were able to invade a gel matrix. (
  • Every human being has a pair of sex chromosomes in each cell. (
  • 1) the ovum contributes one chromosome of each pair to the fertilized cell (2) When a human sperm fertilizes a human ovum , a single cell is created with the potential to grow into a human person. (
  • 4) As in most other animals, the sperm mitochondria penetrate the cell membrane of the ovum at fertilization. (
  • The medial portion of chromosome 4 was deleted in 67% of all of the cell Strains. (
  • An identical inversion, inv(4)(p13q28), was found to occur as the sole karyotypic anomaly in two patients with acute nonlymphocytic leukemia. (
  • This study integrates high-throughput, hybridization-based markers with BAC end sequence and fingerprint data to construct physical maps of rice chromosome I orthologues in two wild Oryza species. (
  • All four Neo/Ras transfectants that were highly metastatic had structural aberrations involving a gain in chromsome 4. (
  • in the members of the other group, which is not well-characterized in details yet, the structures are located in the intrachromosomal regions of the chromosomes. (
  • DNA is composed of alternating sugar and phosphate groups, with the sugar attached to 1 of 4 possible nucleotide bases (adenosine, cytosine, guanine, thymidine). (
  • The chromatin binding of RCC1, the Rabbit Polyclonal to OR5U1 guanine nucleotide exchange element for Ran, as well as the cytoplasmic localization of RanGAP1 travel the rise of the focus gradient of RanGTP encircling the mitotic chromosomes. (
  • The breakpoints are different from any previously described structural rearrangements of chromosome 4. (
  • The commercial introduction of recombinant human growth hormone (rhGH) in 1985 dramatically changed the field of therapy for growth hormone (GH). (
  • The markers drove contig merges to construct physical maps syntenic to rice chromosome I in the wild species and provided evidence for at least one rearrangement on chromosome I of the O. sativa versus Oryza officinalis comparative map. (
  • These effects should be even stronger in inbreeding species 3 and taxa with generally low Ne such as social insects 4 . (
  • The study of microbial communities from environment- and human-derived samples through Next Generation Sequencing (NGS) methods has revealed a vast complexity in those ecological niches where hundreds or thousands of microbial species co-inhabit and functionally interact. (
  • Although the set of species present in the human oral biofilm is almost fully depicted, new efforts have to be conducted to establish microbial agonistic or antagonistic associations, to distinguish actively-growing bacteria from inactive or transient species, as well as to outline the role of individual species during biofilm formation on tooth surfaces. (
  • The co-aggregation detected to occur between streptococci and Actinomyces species has been proposed to be a major promoter of human oral biofilm formation [ 8 ]. (
  • Hier sind URI1 Antikörper für eine Vielzahl von Species wie anti-Human URI1, anti-Mouse URI1, anti-Rat URI1 zu finden. (
  • In addition, FISH demonstrated a 20 centimorgan duplication on chromosome 4. (
  • Mapping with FISH and CGH array further narrowed the region of duplication of chromosome 1 to five centimorgans. (
  • The chromosome on the right acquired an additional piece by duplication of a section of DNA, which is apparent by the additional band (arrow). (
  • Chromosome 11 likely contains 1,300 to 1,400 genes that provide instructions for making proteins. (
  • It was showing how nucleic acids with their 4-letter alphabet determine the order of the 20 kinds of amino acids in proteins. (
  • What are the 4 DNA proteins? (
  • The fundamental pursuit to complete the human proteome atlas and the unmet clinical needs in lung adenocarcinoma have prompted us to study the functional role of uncharacterized proteins and explore their implications in cancer biology. (
  • Polymerase allows the DNA strands to unwind from paired chain and the insertion new proteins encoded in the DNA which remains for future mRNA synthesis from the template strand. (
  • the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. (
  • domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. (
  • Human pheromones: integrating neuroendocrinology and ethology JV Kohl, M Atzmueller, B Fink… - Neuroendocrinology Letters, 2001 - The effect of sensory input on hormones is essential to any explanation of mammalian behavior, including aspects of physical attraction. (
  • Highly recurrent but different copy number changes were associated with the two tumor types and included losses of chromosomes 4 and 10 in all BCCs and gain of chromosome 10 in 80% of RMSs. (
  • SEL1L3 was expressed in abundance in the tumor parts compared with paired adjacent normal tissues in 90% of the lung adenocarcinoma patients in our cohorts. (
  • To check this hypothesis, we evaluated the appearance of aswell as miR-146a-5p and miR-146b-5p in 48 PTC tumor/regular tissues pairs by Taqman assay to reveal which the appearance of was 3.28-fold reduced, and miR-146b-5p was 28.9-fold improved in PTC tumors. (
  • Achievement of final adult height consistent with a child's genetic potential remains the primary therapeutic endpoint for recombinanat human growth hormone (rhGH) therapy in the pediatric population. (
  • TorsinA is expressed at high levels in neuronal cytoplasm of specific neuronal populations in the adult human brain, including the SN, thalamus, cerebellum, hippocampus, and neostriatum. (
  • Furthermore, our results have exemplified a strategy for the completion of the chromosome 21 map to sequencing. (
  • For a baby gender test, the mother's blood sample is analysed by our in-house geneticists, who use Next Generation Sequencing to determine if foetal DNA with a Y chromosome is present in the mother's blood stream. (
  • All "Vaccine" Injections contain the spiked protein which has the same sequencing (coding) as Chromosome 8, VMAT2. (
  • In 1977, the company produced the first human protein in a bacterium. (
  • In this study, we characterized SEL1L3, a previously uncharacterized protein encoded from chromosome 4 as a dysregulated protein in lung adenocarcinoma from the large-scale tissue proteogenomics data set established using the cohort of Taiwan Cancer Moonshot. (
  • To investigate whether sheep infected with scrapie prions could be another source of infection, we inoculated transgenic mice that overexpressed human prion protein with brain tissue from sheep with natural field cases of classical and atypical scrapie, sheep with experimental BSE, and cattle with BSE. (
  • Analysis of protein-coding genetic variation in 60,706 humans. (
  • XIII" YMR047C 3 13 3 YMR047C "Nuclear pore complex protein that is member of GLFG repeat-containing family of nucleoporins and is,XIII" YMR049C 3 13 4 YMR049C "Ymr049cp,XIII" YMR051C 3 13 5 YMR051C "TyA Gag protein. (
  • Comparative cytogenetics of mouse and human lung adenocarcinoma. (
  • The alteration of the same linkage groups in mouse and human indicates that the mouse is a valid model for human lung adenocarcinoma. (
  • People do not inherit a full X chromosome from their mother, but some segments of each of the mother's two X chromosome. (
  • Spore extraction and bacteria with infected animals or their contaminated identification products [ 4 ]. (
  • Bacteria human relationship with distillery and animals. (
  • Females have a pair of X chromosomes (46, XX), whereas males have one X and one Y chromosomes (46, XY). (
  • Males only need one X chromosome to function. (
  • Chromosomes stained with fluorescence dyes under the microscope. (
  • A pair of stained chromosomes under the microscope. (
  • These same linkage groups are altered in human lung cancer. (
  • Point (A) as shown on the figure represent the longest chromosomes observed on the metaphase spread, (B) represent the metacentric chromosome, (C) Submetacentric chromosome and (D) is the acrocentric chromosome. (