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.

Identification and characterization of a zinc finger gene (ZNF213) from 16p13.3. (1/861)

During our search for the familial Mediterranean fever (FMF) gene, we identified by cDNA selection a 1.2 kb cDNA fragment representing a novel human gene that is expressed in a wide variety of tissues. This gene spans approx. 8.0 kb genomic DNA and has seven exons. Its 3' untranslated region contains a long tandem repeat that gives rise to a polymorphism with two alleles of approx. 1.1 kb and 1.0 kb, with the 1.1 kb allele in strong linkage disequilibrium with FMF in patients of different ethnic backgrounds. However, both genetic and mutational analyses have excluded this gene as the one responsible for FMF. The predicted 424 amino acid protein, designated ZNF213, contains three C2H2 zinc fingers, a Kruppel associated A box and a leucine rich motif (LeR domain/SCAN box), strongly suggestive of a transcription factor.  (+info)

Townes-Brocks syndrome. (2/861)

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.  (+info)

Analysis of p16 (CDKN2/MTS-1/INK4A) alterations in primary sporadic uveal melanoma. (3/861)

PURPOSE: To define more clearly the role of the tumor suppressor gene p16 in uveal melanoma by determining the relative contribution of all known mechanisms of p16 inactivation in this tumor. METHODS: A comprehensive genetic analysis of the p16 gene was performed in 33 primary sporadic ciliochoroidal and choroidal melanomas. Fourteen highly polymorphic microsatellite markers surrounding the p16 locus on chromosome 9p21 were used for the microsatellite analysis. Sequence analysis of the p16 gene was performed on those tumors with 9p21 loss of heterozygosity. To investigate methylation as an alternative mechanism of inactivation of p16, methylation-specific polymerase chain reaction was performed on all tumor DNA samples. RESULTS: Loss of heterozygosity (LOH) was found in 8 of 33 (24%) uveal melanomas. No evidence of a second region of LOH that did not include the p16 locus was found. Four cases had hemizygous losses including markers both distal and proximal to p16. Homozygous deletion of the p16 gene was detected in the 4 remaining cases by microsatellite analysis. Sequence analysis revealed no p16 mutations in the tumors with hemizygous loss of p16. Methylation of the 5' CpG island of p16 was found in one tumor with 9p21 LOH and in another without LOH. CONCLUSIONS: p16 inactivation by HD or methylation occurs in 27% of uveal melanomas, representing the most common molecular genetic alteration identified thus far in uveal melanoma.  (+info)

Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3. (4/861)

The recently identified Fanconi anaemia A (FAA) gene is located on chromosomal band 16q24.3 within a region that has been frequently reported to show loss of heterozygosity (LOH) in breast cancer. FAA mutation analysis of 19 breast tumours with specific LOH at 16q24.3 was performed. Single-stranded conformational polymorphism (SSCP) analysis on cDNA and genomic DNA, and Southern blotting failed to identify any tumour-specific mutations. Five polymorphisms were identified, but frequencies of occurrence did not deviate from those in a normal control population. Therefore, the FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer. Another tumour suppressor gene in this chromosomal region remains to be identified.  (+info)

Alternative splicing determines the intracellular localization of the novel nuclear protein Nop30 and its interaction with the splicing factor SRp30c. (5/861)

We report on the molecular cloning of a novel human cDNA by its interaction with the splicing factor SRp30c in a yeast two-hybrid screen. This cDNA is predominantly expressed in muscle and encodes a protein that is present in the nucleoplasm and concentrated in nucleoli. It was therefore termed Nop30 (nucleolar protein of 30 kDa). We have also identified a related cDNA with a different carboxyl terminus. Sequencing of the NOP gene demonstrated that both cDNAs are generated by alternative 5' splice site usage from a single gene that consists of four exons, spans at least 1800 nucleotides, and is located on chromosome 16q21-q23. The alternative 5' splice site usage introduces a frameshift creating two different carboxyl termini. The carboxyl terminus of Nop30 is rich in serines and arginines and has been found to target the protein into the nucleus, whereas its isoform is characterized by proline/glutamic acid dipeptides in its carboxyl terminus and is predominantly found in the cytosol. Interaction studies in yeast, in vitro protein interaction assays, and co-immunoprecipitations demonstrated that Nop30 multimerizes and binds to the RS domain of SRp30c but not to other splicing factors tested. Overexpression of Nop30 changes alternative exon usage in preprotachykinin and SRp20 reporter genes, suggesting that Nop30 influences alternative splice site selection in vivo.  (+info)

Comparative genomic hybridization of breast tumors stratified by histological grade reveals new insights into the biological progression of breast cancer. (6/861)

How does breast cancer progress? There is evidence both to support (S. W. Duffy et al., Br. J. Cancer, 64: 1133-1138, 1991; R. Rajakariar et al., Br. J. Cancer, 71: 150-154, 1995) and refute (M. Hakama et al., Lancet, 345: 221-224, 1995; R. R. Millis et al., Eur. J. Cancer, 34: 548-553, 1998) the hypothesis of dedifferentiation; the theory that as breast cancers grow they evolve from well differentiated (grade I) to poorly differentiated (grade III) tumors. We provide evidence to support the view that the majority of grade I tumors do not progress to grade III tumors. Comparative genomic hybridization was used to screen entire genomes of a large sample (40 grade I and 50 grade III) of invasive ductal breast carcinomas, stratified by grade. We found distinct genetic differences between grade I and grade III tumors. Significantly, we found that 65% of grade I tumors lost the long arm of chromosome 16 compared with only 16% of grade III tumors. This pattern of loss leads us to conclude that the majority of grade I tumors do not progress to grade III tumors. These findings have important implications because they suggest that different breast tumor grades may have distinct molecular origins, pathogenesis, and behavior and, therefore, potentially present distinct molecular targets for research and treatment.  (+info)

A novel lipopolysaccharide-induced transcription factor regulating tumor necrosis factor alpha gene expression: molecular cloning, sequencing, characterization, and chromosomal assignment. (7/861)

Lipopolysaccharide (LPS) is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor alpha (TNF-alpha) and other inflammatory mediators. Given the deleterious effects to the host of TNF-alpha, it has been postulated that TNF-alpha gene expression must be tightly regulated. The nature of the nuclear factor(s) that control TNF-alpha gene transcription in humans remains obscure, although NF-kappaB has been suggested. Our previous studies pertaining to macrophage response to LPS identified a novel DNA-binding domain located from -550 to -487 in the human TNF-alpha promoter that contains transcriptional activity, but lacks any known NF-kappaB-binding sites. We have used this DNA fragment to isolate and purify a 60-kDa protein binding to this fragment and obtained its amino-terminal sequence, which was used to design degenerate probes to screen a cDNA library from THP-1 cells. A novel cDNA clone (1.8 kb) was isolated and fully sequenced. Characterization of this cDNA clone revealed that its induction was dependent on LPS activation of THP-1 cells; hence, the name LPS-induced TNF-alpha factor (LITAF). Inhibition of LITAF mRNA expression in THP-1 cells resulted in a reduction of TNF-alpha transcripts. In addition, high level of expression of LITAF mRNA was observed predominantly in the placenta, peripheral blood leukocytes, lymph nodes, and the spleen. Finally, chromosomal localization using fluorescence in situ hybridization revealed that LITAF mapped to chromosome 16p12-16p13.3. Together, these findings suggest that LITAF plays an important role in the activation of the human TNF-alpha gene and proposes a new mechanism to control TNF-alpha gene expression.  (+info)

An analysis of common isodisomic regions in five mUPD 16 probands. (8/861)

Intrauterine growth retardation (IUGR) with or without additional abnormalities is recognised as a common feature of maternal uniparental disomy for chromosome 16 (mUPD 16) and is usually associated with confined placental mosaicism (CPM). Although it is likely that the CPM largely contributes to the IUGR, postnatal growth retardation and other common abnormalities may also be attributed to the mUPD. Five cases with mUPD 16 and CPM were analysed for common regions of isodisomy using polymorphic markers distributed along the length of the chromosome. In each case the aberration was consistent with a maternal meiosis I error. Complete isodisomy was not detected in any of the patients although two patients were found to be mixed with both iso- and heterodisomy. Interestingly, the patient with the greater region of isodisomy was the most severely affected. The fact that there were no common regions of isodisomy in any of the patients supports the hypothesis that imprinted genes, rather than recessive mutations, may play a role in the shared phenotypes.  (+info)

Patient with adult polycystic kidney disease may present with bilateral enlargement of the kidneys on bimanual palpitation. The common symptoms and signs of adult polycystic kidney disease may include hypertension, pain in the loin or flank region due t
Rubinstein, J. Broad thumb-hallux (Rubinstein-Taybi) Syndrome 1957-1988. Am J Med Gen Suppl . vol. 6. 1990. pp. 3-16. (An early review of 571 cases, this article provides a detailed description of the physical findings in this syndrome.). Wiley, S, Swayne, S, Rubinstein, J, Lanphear, N, Stevens, C. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet. vol. 119A. 2003. pp. 101-110. (This article includes specific surveillance and intervention recommendations compiled by a group of pediatric experts.). Cantani, A, Gagliesi, D. Rubinstein-Taybi syndrome. Review of 732 cases and analysis of typical traits. Eur Rev Med Pharmacol Sci. vol. 2. 1998. pp. 81-87. (This is an analysis of 732 cases and provides a summary of the physical findings of the syndrome and discusses epidemiology and genetics known at the time of publication.). Roelfsema, J, Peters, D. Rubinstein-Taybi syndrome: clinical and molecular overview. Expert Rev Mol Med. vol. 9. 2007. pp. 1-15. (This article details the ...
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
In 1963, Rubinstein and Taybi first described a malformation syndrome characterized by distinctive facies, mental retardation, broad thumbs, and broad great toes as are seen in the images below. {file44122}{file44123}{file44124}Deletions in band 16p13 have been described in association with this disorder, and mutations in the cyclic adenosin...
Autosomal dominant PKD (ADPKD) is the most common form of PKD. It accounts for about 90% of all PKD cases. Autosomal dominant means that if one parent has the disease there is a 50% chance that the disease will pass to a child. Both males and females are equally affected. ADPKD used to be called adult polycystic kidney disease. It is often diagnosed in adulthood. Usually, at least one parent must have the disease for a child to inherit it. In 10% of cases, there may be no family history of PKD. These cases are new mutations in a family. In very few cases, this type of PKD happens suddenly after conception. Parents would not be at increased risk to have more children with PKD. But people with PKD have a 50/50 chance of passing the gene on to their children.. Symptoms often start between age 30 and 40. But they can begin in childhood. They may include:. ...
hypothetical protein, A306_06942, Anapl_13162, AS27_07110, CBP, CBP/p300, CREB-binding protein, CREB binding protein (Rubinstein-Taybi syndrome), crebbp-a, crebbp-b, D623_10028045, E1A binding protein p300, EP300, H920_13788, hmm291030, KAT3A, M91_18874, MDA_GLEAN10009599, N301_13283, N302_12939, N303_04372, N307_13277, N308_10632, N309_02966, N311_11763, N312_01973, N321_00697, N326_12400, N327_01513, N332_08465, N334_05471, N335_14336, N336_02992, N339_02947, p300, p300/CBP, PAL_GLEAN10011621, RSTS, RTS, UY3_13419, Y1Q_016907, Z169_09090, crebbp ...
Looking for online definition of Adult polycystic kidneys in the Medical Dictionary? Adult polycystic kidneys explanation free. What is Adult polycystic kidneys? Meaning of Adult polycystic kidneys medical term. What does Adult polycystic kidneys mean?
Autosomal dominant polycystic kidney disease (ADPKD). Signs and symptoms of ADPKD often develop between the ages of 30 and 40. In the past, this type was called adult polycystic kidney disease, but children can develop the disorder.. Only one parent needs to have the disease for it to pass to the children. If one parent has ADPKD, each child has a 50 percent chance of getting the disease. This form accounts for about 90 percent of cases of polycystic kidney disease. ...
This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patients clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician ...
ICCA, the International Congress and Convention Association is the global meetings industry network. ICCA can assist meeting organisers in finding the main specialists in handling, transporting, and accommodating international events. ICCA offers a variety of benefits for suppliers, such as networking, education, and promotion, as well as business opportunities through databases containing valuable information on congress organisers and details on international meetings. - ICCA - ICCA
ICCA, the International Congress and Convention Association is the global meetings industry network. ICCA can assist meeting organisers in finding the main specialists in handling, transporting, and accommodating international events. ICCA offers a variety of benefits for suppliers, such as networking, education, and promotion, as well as business opportunities through databases containing valuable information on congress organisers and details on international meetings. - ICCA - ICCA
The fragile gene, encompassing the chromosomal fragile site FRA3B, can be an early target of DNA damage in precancerous cells. can occur in regular lead and cells to regions of metaplasia with minimal FHIT expression. Loss of the next allele can result in complete lack of FHIT manifestation, which can be seen in many dysplastic Read More. ...
The CREBBP gene is associated with autosomal dominant Rubinstein-Taybi syndrome 1 (RSTS1) (MedGen UID: 48517) and is commonly deleted in the recurrent 16p13.3 microdeletion syndrome (OMIM: 610543), a severe form of RSTS resulting from a contiguous gene deletion involving CREBBP as well as other neighboring genes.
Rubinstein-Taybi Syndrome is a rare condition affecting 1:125,000 children. It is associated with short broad radially deviated thumbs, secondary to a delta proximal phalanx of the thumb. We undertook a retrospective review of seven children (13 thumbs) with Rubinstein-Taybi syndrome whose thumbs were treated using a corrective osteotomy to the delta phalanx over a 13 year period. The types of osteotomy used in the series were reverse wedge osteotomy, opening wedge osteotomy and dome shaped osteotomy. The mean preoperative radial deviation of thumbs was 68 degrees (range 45-85 degrees ). At follow up five of the 13 thumbs demonstrated some residual radial deviation. All recurrences occurred in the dome shaped osteotomy group. Our data suggest that surgery is effective in correcting the deformity, but there is a risk of incomplete correction or recurrence. Despite the recurrence the mean postoperative deformity was significantly better than preoperatively and the majority of patients families
Rubinstein-Taybi syndrome (RSTS) is an uncommon genetic disorder characterised by a typical facies, small stature, broad angulated thumbs and intellectual impairment. Dental changes are a minor, yet significant component of the condition. Craniofacial growth retardation in RSTS is frequently complicated by unerupted teeth, while dental caries is related to the inherent intellectual deficit. Dental problems necessitate interdisciplinary management in terms of oral surgery, conservative dentistry, periodontics and orthodontics. When affected individuals are unco-operative, certain dental procedures may warrant general anaesthesia. In these instances, dental and medical staff will combine their expertise to enhance the well-being of the patient. In addition, specific dental changes may alert the medical practitioner to the possible diagnosis of RSTS. In this article we document the oro-dental manifestations and review the oro-dental approach in the management of three patients with RSTS. Our experience in
Acute myelomonocytic leukemia (AMMoL) is a form of acute myeloid leukemia which involves a proliferation of CFU-GM myeloblasts and monoblasts. It is classified under M4 in the French-American-British classification (FAB).[1] It is classified under AML, not otherwise classified in the WHO classification.[2] Translocations have been observed.[3] Progression from myelodysplastic syndrome has been reported.[4] ...
本ページで公開している安全性要約書は、ICCA1) GPS2) Chemicals Portal にリンクしており、Substance nameはリンク先の表記に基づいています ...
INFORMERER Annonseringsdato: Meddelelse nummer: 182 MEDDELELSER FRA NORSK ELEKTROTEKNISK KOMITE IEC-normer og tekniske rapporter CENELEC Europanormer (EN) CENELEC Harmoniseringsdokumenter (HD)
INFORMERER Annonseringsdato: Meddelelse nummer: 134 MEDDELELSER FRA NORSK ELEKTROTEKNISK KOMITE IEC-normer og tekniske rapporter CENELEC Europanormer (EN) CENELEC Harmoniseringsdokumenter (HD)
TY - JOUR. T1 - Acute myelomonocytic leukemia in a horse.. AU - Spier, S. J.. AU - Madewell, B. R.. AU - Zinkl, J. G.. AU - Ryan, A. M.. PY - 1986/4/15. Y1 - 1986/4/15. N2 - A 7-year-old Quarter Horse stallion with a myeloproliferative disorder was examined because of colic, and an enterolith was removed surgically. The horse experienced secondary complications after abdominal surgery, and leukopenia and thrombocytopenia were detected. Five months later, the horse was examined for recurrent peripheral edema and for repair of an abdominal incisional hernia. Acute myelomonocytic leukemia was diagnosed, and treatment with low-dose (noncytocidal) cytosine arabinoside was unsuccessful. Necropsy revealed neoplastic infiltrate in the spleen, liver, lung, adrenal gland, testes, and eye. The persistent hematologic abnormalities before the onset of overt leukemia may represent hematopoietic dysplasia or preleukemia.. AB - A 7-year-old Quarter Horse stallion with a myeloproliferative disorder was examined ...
Adult polycystic kidney disease (also known as autosomal-dominant polycystic kidney disease) is a genetic disease characterized by bilateral massive enlargement of the kidney secondary to multiple large cysts. The classic presentation is a patient greater than 30-years-old presenting with flank pain and hematuria, found to have hypertension and progressive renal failure. The disease is associated with polycystic liver disease, berry aneurysms, and mitral valve prolapse. Other complications and associated findings are infection of the renal cysts, kidney stones, diverticula, and hernias. Ultrasound is diagnostic but may be accompanied with CT or MRI. No treatment is curative, but cysts may be drained when symptomatic and patients are encouraged to control their hypertension with medication. Also use this question to recall other conditions associated with berry aneurysms such as Ehlers-Danlos syndrome and Marfans syndrome ...
Rubinstein-Taybi syndrome (RSTS) is a rare condition with a prevalence of 1 in 125,000-720,000 births and characterized by clinical features that include facial, dental, and limb dysmorphology and growth retardation. Most cases of RSTS occur sporadically and are caused by de novo mutations. Cytogenetic or molecular abnormalities are detected in only 55% of RSTS cases. Previous genetic studies have yielded inconsistent results due to the variety of methods used for genetic analysis. The purpose of this study was to use whole exome sequencing (WES) to evaluate the genetic causes of RSTS in a young girl presenting with an Autism phenotype. We used the Autism diagnostic observation schedule (ADOS) and Autism diagnostic interview revised (ADI-R) to confirm her diagnosis of Autism. In addition, various questionnaires were used to evaluate other psychiatric features. We used WES to analyze the DNA sequences of the patient and her parents and to search for de novo variants. The patient showed all the typical
Most reported microdeletions of the CREB-binding protein (CBP) gene in the Rubinstein-Taybi syndrome (RTS) were detected by fluorescence in situ hybridization (FISH) with a single cosmid probe specific to the 3 region of the gene. In order to test the hypothesis that the rate of microdeletion-posit …
KMT2A-AFDN (also referred to as MLL-AF6) results from the fusion of KMT2A and AFDN, which leads to nuclear localization of Raf6, activation of Ras signaling in culture (PMID: 24695851), and leukemogenesis in mouse models (PMID: 29062045). KMT2A-AFDN has been identified in acute myelomonocytic leukemia (PMID: 30132801) and pediatric acute myeloid leukemia (PMID: 29105243 ...
Collision between the molecular machineries responsible for transcription and replication is an important source of genome instability. Certain transcribed regions known as chromosomal fragile sites...
1Molecular Pathology and Cytogenetic Ward, Pathology Department, School of Medicine, Tehran University of Medical Sciences,Tehran, Iran; Molecular Pathology and Cytogenetic Ward, Pathology Department, School of Medicine, Shiraz University of Medical Sciences, Shiraz, ...
A total of 82 genes have now been located on chromosome 16, with 8 new assignments since HGM 11. Three new disease-gene localizations were reported at the workshop.. Two patients with Rubinstein-Taybi syndrome (dysmorphic facies, broad thumbs, big toes, and mental retardation) were reported to have a reciprocal translocation involving the short arm of chromosome 16. Martijn Breuning (Leiden University, Netherlands) reported that 6 of 24 patients with this syndrome were found by FISH to have submicroscopic deletions.. The second disease localization was reported by Dan Kastner (NIH, Bethesda). Familial Mediterranean Fever, an autosomal recessive disorder characterized by acute attacks of fever with sterile peritonitis, pleurisy, or synovitis, was genetically mapped to the chromosome 16 short arm. Linkage disequilibrium between different ethnic groups strongly suggests the presence of at least two mutant alleles with different clinical manifestations.. The third new disease assignment was a gene ...
Choreoathetosis is a condition where the brain does not produce enough cerebrospinal fluid (CSF) to keep the body healthy. The condition occurs when there are problems with the production or absorption of CSF by one or both sides of the brain. This may occur due to various diseases such as:. A blockage in a blood vessel leading from the heart, which prevents it from pumping enough blood through your head and neck area.. A blockage in a vein supplying the brain, causing it to become starved for oxygen.. An infection of the lining of the brain (encephalitis).. The most common cause of choreoathetosis is cerebral palsy (CP), but other conditions can lead to its development. The condition affects approximately 1 in every 100 children under five years old.. It is estimated that up to 30% of children with CP will develop choreoathetosis.. Symptoms of choreoathetosis include:. Difficulty breathing (paroxysm) or difficulty swallowing (peristalsis).. Headache.. Other symptoms may include: dizziness, ...
KAT7 / Hbo1 / MYST2兔单克隆抗体[EPR7194(B)](ab124993)可与小鼠, 大鼠, 人样本反应并经WB, Flow Cyt实验严格验证,被1篇文献引用。所有产品均提供质保服务,中国75%以上现货。
In this study, we demonstrated that: (a) WWOX is altered by deletion and/or aberrant expression in 4 of 9 pancreatic cancer cell lines (44%) and 6 of 15 primary pancreatic adenocarcinomas (40%); (b) promoter hypermethylation of WWOX, including −37 position site-specific methylation, is detected in 2 cell lines (22%) and in 2 samples (13%), and treatment with the demethylating agent 5-AZAC elevated significantly WWOX expression in Hs766T; (c) all of the cell lines showed low levels of WWOX expression using real-time reverse transcription-PCR and Western blot, and 6 primary cases (40%) showed a statistically significant reduction in WWOX expression; and (d) transfection with WWOX induced apoptosis and suppressed colony formation in cell lines.. The WWOX gene was identified recently as a tumor suppressor gene at 16q23.3-24.1, a chromosome region that spans the common fragile site FRA16D (8, 9, 10, 11) . Several studies have revealed alterations of WWOX in several types of human cancers (8, 9, 10, ...
From NCBI Gene:. The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. This gene encodes 90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, this gene was expressed in all leukemic cell lines tested. [provided by RefSeq, Jul 2008]. From UniProt: ...
Telomeres and genes encoding 45S ribosomal RNA (rDNA) are frequently located adjacent to each other on eukaryotic chromosomes. Although their primary roles are different, they show striking similarities with respect to their features and additional functions. Both genome domains have remarkably dynamic chromatin structures. Both are hypersensitive to dysfunctional histone chaperones, responding at the genomic and epigenomic levels. Both generate non-coding transcripts that, in addition to their epigenetic roles, may induce gross chromosomal rearrangements. Both give rise to chromosomal fragile sites, as their replication is intrinsically problematic. However, at the same time, both are essential for maintenance of genomic stability and integrity. Here we discuss the structural and functional inter-connectivity of telomeres and rDNA, with a focus on recent results obtained in plants.. ...
Telomeres and genes encoding 45S ribosomal RNA (rDNA) are frequently located adjacent to each other on eukaryotic chromosomes. Although their primary roles are different, they show striking similarities with respect to their features and additional functions. Both genome domains have remarkably dynamic chromatin structures. Both are hypersensitive to dysfunctional histone chaperones, responding at the genomic and epigenomic levels. Both generate non-coding transcripts that, in addition to their epigenetic roles, may induce gross chromosomal rearrangements. Both give rise to chromosomal fragile sites, as their replication is intrinsically problematic. However, at the same time, both are essential for maintenance of genomic stability and integrity. Here we discuss the structural and functional inter-connectivity of telomeres and rDNA, with a focus on recent results obtained in plants.. ...
This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patients clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician ...
ウサギ・ポリクローナル抗体 ab70183 交差種: Ms,Rat,Hu 適用: WB,IP,ELISA,IHC-P,ICC/IF…KAT7 / Hbo1 / MYST2抗体一覧…画像、プロトコール、文献などWeb上の情報が満載のアブカムの Antibody…
The FRA eLibrary contains all the documents that are found throughout the FRA Public Website. Multiple pages on the website may link to the same eLibrary item based on its set of metatdata.. Can I find All FRA Documents in the Library? ...
Chronic kidney disease (CKD) is defined as evidence of kidney damage or a glomerular filtration rate (GFR) ≤60 ml/min/1.73 m2 (table 1). The most common causes of CKD are hypertension and diabetes mellitus. The many causes of CKD are associated with different varying prognoses. Patients with adult polycystic kidney disease have a 50% lifetime risk of needing dialysis compared with 25% for type 1 diabetes and ,5% for type 2 diabetes. Dialysis is usually considered when GFR falls below 10 ml/min/1.73 m2 but the exact timing will often be dictated by clinical circumstances. This may be refractory oedema, hyperkalaemia and acidosis, uraemia or unacceptable symptoms. Dialysis only partially replaces the excretory function of the kidneys and so the morbidity and mortality associated with CKD are not completely resolved with dialysis. In fact, mortality in the dialysis patient is very high. The life expectancy of a 25-year-old dialysis patient is 12 years, compared with 32 years for an age equivalent ...
Mutations in the coactivator CREB-binding protein (CBP) are a major cause of the human skeletal dysplasia Rubinstein-Taybi syndrome (RTS); however, the mechanism by which these mutations affect skeletal mineralization and patterning is unknown. Here, we report the identification of 3-phosphoinositide-dependent kinase 1 (PDK1) as a key regulator of CBP activity and demonstrate that its functions map to both osteoprogenitor cells and mature osteoblasts. In osteoblasts, PDK1 activated the CREB/CBP complex, which in turn controlled runt-related transcription factor 2 (RUNX2) activation and expression of bone morphogenetic protein 2 (BMP2). These pathways also operated in vivo, as evidenced by recapitulation of RTS spectrum phenotypes with osteoblast-specific Pdk1 deletion in mice (Pdk1osx mice) and by the genetic interactions observed in mice heterozygous for both osteoblast-specific Pdk1 deletion and either Runx2 or Creb deletion. Finally, treatment of Pdk1osx and Cbp+/- embryos with BMPs in utero ...
A new polymorphic BgI II restriction endonuclease site in the alpha-globin gene complex has been found in Cypriot, Sardinian, and Greek populations. In all cases, this polymorphism is linked to a particular hypervariable region between the zeta 2 and zeta 1 genes. This suggests that these hypervariable regions are stable and will be useful for genetic analysis.
A new polymorphic BgI II restriction endonuclease site in the alpha-globin gene complex has been found in Cypriot, Sardinian, and Greek populations. In all cases, this polymorphism is linked to a particular hypervariable region between the zeta 2 and zeta 1 genes. This suggests that these hypervariable regions are stable and will be useful for genetic analysis.
S. E. Pound, S. Thomas, A. Snarey, A. M. Macnicol, M. L. Watson, P. M. Pignatelli, A. M. Frischauf, P. C. Harris, A. F. Wright ...
VI.A.004. Acute eosinophilic leukemia. (A) Blood film. Two blast cells, two neutrophilic cells with dumbbell nuclei (pseudo-Pelger cells) and an abnormal eosinophil with five-lobed nucleus. (B) Blood film. Two blast cells, two neutrophilic cells with dumbbell nuclei (pseudo-Pelger cells) and an abnormal eosinophil with five-lobed nucleus. (C) Marrow section. Multiple blast cells and eosinophils in various stages of maturation. (D) Marrow film. Peroxidase stain. Positive reaction (black reaction product) in myeloblasts and immature eosinophils.. ...
Familial Cylindromatosis (Turban Tumor Syndrome): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis.
Report Highlights. A better understanding of disease pathogenesis contributing to the development of novel therapeutics for Autosomal Dominant Polycystic Kidney Disease (ADPKD). In the coming years, the Autosomal Dominant Polycystic Kidney Disease (ADPKD) market is set to change due to the rising awareness of the disease, and incremental healthcare spending across the world; which would expand the size of the market to enable the drug manufacturers to penetrate more into the market. The companies and academics that are working to assess challenges and seek opportunities that could influence Autosomal Dominant Polycystic Kidney Disease (ADPKD) R&D. The therapies under development are focused on novel approaches to treat/improve the disease condition.. A detailed portfolio of major pharma players who are involved in fueling the Autosomal Dominant Polycystic Kidney Disease (ADPKD) treatment market. Several potential therapies for Autosomal Dominant Polycystic Kidney Disease (ADPKD) are under ...
Autosomal Dominant Polycystic Kidney Disease (ADPKD) Market. There is no cure for ADPKD and it is not possible to stop cysts forming in the kidneys, however, a lot of research has been done in this space to find ways to manage the disease. The progressiveness of this disease and its complications cause debilitating effects on the health of patients and impose a significant burden, both economically and on the quality of life. The majority of patients with ADPKD will eventually develop ESRD and require RRT. The Autosomal Dominant Polycystic Kidney Disease (ADPKD) market outlook section of the report helps to build the detailed comprehension of the historic, current and forecasted Autosomal Dominant Polycystic Kidney Disease (ADPKD) market trends by analyzing the impact of current therapies on the market, unmet needs, drivers and barriers and demand for better technology. The report gives a thorough detail of Autosomal Dominant Polycystic Kidney Disease (ADPKD) market trend of each marketed drug ...
Autosomal Recessive Polycystic Kidney Disease is also called Infantile Polycystic Kidney Disease, which is rarely seen in clinic and babies with the disease die shortly after birth except few ones can live to childhood or adulthood. Autosomal Dominant Polycystic Kidney Disease, also named Adult Polycystic Kidney Disease, is quite commonly seen, which doesnt show obvious symptom in the early stage but has augmented both in number and in size once it is found. Therefore, earlier treatment becomes quite important. How can Polycystic Kidney Disease be found ...
Autosomal dominant polycystic kidney disease (ADPKD) constitutes the fourth cause of end-stage renal disease in Europe. The course of the disease varies widely among patients with ADPKD. Due to the emergence of new possibilities of pharmacotherapy, it has become crucial to identify the group of...
autosomal dominant polycystic kidney disease - Prevalence patient population data split by country and gender, starting 1980 and ending 2100 , Epiomic ...
Montero N, Sans L, Webster AC, Pascual J. Interventions for infected cysts in people with autosomal dominant polycystic kidney disease (Protocol). Cochrane Database of Systematic Reviews 2020, Issue 7. Art. No.: CD010946. DOI: 10.1002/14651858.CD010946.pub2 ...
EC 0731 is a water-soluble, folate-sirolimus conjugate, under development with Endocyte for the treatment of autosomol dominant polycystic kidney disease. The
Background: iCCA is the 2nd most common liver malignancy and with a poor patient prognosis. The ABC-02 study established gemcitabine+cisplatin (gem-cis) as the standard of care (SOC) in 1st line (1L) systemic chemotherapy (CT). The objective was to examine the treatment (tx) patterns and time trends in the tx received by patients (pts) with iCCA in the United States before and after ABC-02 study was published. Methods: Retrospective data from the Optum Research Database, which included commercial and Medicare Advantage health plan members between January 1, 2006 and June 30, 2018, were used. Eligible pts were aged ≥ 18 years; had ≥ 2 nondiagnostic claims of primary iCCA diagnosis (International Classification of Disease [ICD]-9: 155.1 or ICD-10: C22.1) in the identification period (July 01, 2006-March 31, 2018); and had 6 months continuous enrollment prior to and ≥ 3 months follow-up (or less due to death) from the date of first diagnosis. Tx patterns in the periods before and after ABC-02 ...
core binding factor alpha: core binding factor plays a key role in several development pathways and in human disease; has been sequenced
Secreted modular calcium binding protein-1 (Smoc-1) belongs to the BM-40 family which has been implicated with tissue remodeling, angiogenesis and bone mineralization. Besides its anticipated role in embryogenesis, Smoc-1 has been characterized only in a few mammalian species. We made use of the consensus sequence (5 CACCTCTCCACCTGCC 3) of 33.15 repeat loci to explore the buffalo transcriptome and uncovered the Smoc-1 transcript tagged with this repeat. The main objective of this study was to gain an insight into its structural and functional organization, and expressional status of Smoc-1 in water buffalo, Bubalus bubalis. We cloned and characterized the buffalo Smoc-1, including its copy number status, in-vitro protein expression, tissue & age specific transcription/translation, chromosomal mapping and localization to the basement membrane zone. Buffalo Smoc-1 was found to encode a secreted matricellular glycoprotein containing two EF-hand calcium binding motifs homologous to that of BM-40/SPARC
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small fluid-filled sacs called cysts to develop in the kidneys.. Although children affected by ADPKD are born with the condition, it rarely causes any noticeable problems until the cysts grow large enough to affect the kidneys functions.. In most cases, this does not occur until a person is between 30 and 60 years of age. Less commonly, children or older people may have noticeable symptoms as a result of ADPKD.. When ADPKD reaches this stage, it can cause a wide range of problems, including:. ...
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small fluid-filled sacs called cysts to develop in the kidneys.. Although children affected by ADPKD are born with the condition, it rarely causes any noticeable problems until the cysts grow large enough to affect the kidneys functions.. In most cases, this does not occur until a person is between 30 and 60 years of age. Less commonly, children or older people may have noticeable symptoms as a result of ADPKD.. When ADPKD reaches this stage, it can cause a wide range of problems, including:. ...
Realmyst has by far the best graphics of all fthe Myst games.I have played every Myst game available. The Walkthrough for Realmyst is a little different than that of the original Myst game, but most of it is the same. Of course, the last chapter of Realmyst is brand new.Once you have played Realmyst, you will never go back to the original game or to The Masterpiece version. Happy gaming ...
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"320 million base pairs . . . comprising more than 10% of the human genome." They discovered that chromosome 19 has the highest ... "GNN - Two More Human Chromosomes Are Complete". www.genomenewsnetwork.org. Retrieved 2017-03-02. Grimwood, Jane; Gordon, Laurie ... gene density of any human chromosome, and were able to link certain genes on the chromosome to genetic diseases including ... Grimwood was an important part of the Human Genome Project effort, working from the Stanford Human Genome Center. Grimwood ...
The promoter for TVP23A is GXP_91266, spanning 1403 base pairs located on the negative strand of chromosome 16. The ... There are two known isoforms of TVP23A, variant one and variant two, with variant one being the more common variant in humans. ... TVP23B and TVP23C are 96% similar to each other, and both are located on chromosome 17. Due to the locations of these three ... TVP23A is located on chromosome 16. It is known to have human paralogs, TVP23B and TVP23C, as well as orthologs in many ...
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". Ncbi.nlm.nih.gov. 2012-04-04. Retrieved 2012-05-18 ... The primary transcript of this gene is 1,919 base pairs long. Using the Dotlet program, a dot plot was constructed comparing ... "Homo sapiens chromosome 16 open reading frame 13 (C16orf13), transcrip - Nucleotide - NCBI". Ncbi.nlm.nih.gov. 2012-04-04. ...
In the human genome, WDR90 spans from base pairs 649363 to 667833, and has an mRNA sequence that is 5,250 nucleotides in length ... This human gene is located in the positive DNA strand on chromosome 16 at the position 16p13.3. Flanking sequences on the ... WD repeat-containing protein 90 is a protein that in humans is encoded by the WDR90 gene (16p13.3). This human protein is 1750 ... The de novo protein structure of WDR90 in humans is predicted to possess beta sheets, beta turns, and random coils. The human ...
Uncharacterized protein C16orf78(NP_653203.1) is a protein that in humans is encoded by the chromosome 16 open reading frame 78 ... There are 5 exons, totaling a length of 1068 base pairs. C16orf78 is 265 amino acids long with a predicted molecular weight of ... "C16orf78 chromosome 16 open reading frame 78 [Homo sapiens (human)] - Gene - NCBI". ncbi.nlm.nih.gov. Retrieved 2019-05-05. " ... "C16orf78 (human)". phosphosite.org. Retrieved 2019-05-05. "PROSITE". prosite.expasy.org. Retrieved 2019-05-05. "CFSSP: Chou & ...
Chromosome 3 open reading frame 67 or C3orf67 is a protein that in humans is encoded by the gene C3orf67. The function of ... The coding sequence is 402-2681 base pairs of 3135 base pairs, making up 759 amino acids. C3orf67 has six validated isoforms. ... "C3orf67 (human)". www.phosphosite.org. Retrieved 2018-04-30. "NetOGlyc 4.0 Server". www.cbs.dtu.dk. Retrieved 2018-04-30. " ... Zawel L, Dai JL, Buckhaults P, Zhou S, Kinzler KW, Vogelstein B, Kern SE (March 1998). "Human Smad3 and Smad4 are sequence- ...
... is located on the minus strand of the first chromosome at 1p36.13. The gene consists of 118,172 base pairs stretching ... Transmembrane and coiled-coil domains 4, TMCO4, is a protein in humans that is encoded by the TMCO4 gene. Currently, its ... There are twenty mRNA transcript variants (X1-X20) produced through different combinations of sixteen different exons. The most ... Database, GeneCards Human Gene. "TMCO4 Gene - GeneCards , TMCO4 Protein , TMCO4 Antibody". www.genecards.org. Retrieved 2017-02 ...
In humans common polymorphisms include the following: Rs6259, also called Asp327Asn location 7633209 on Chromosome 17, results ... TAAAA)(n) is five base pairs that repeats a variable number of times on the opposite DNA strand.[17] ... The gene for SHBG is called Shbg located on chromosome 17[11] on the short arm between the bands 17p12→p13.[12] Overlapping on ... Hryb DJ, Nakhla AM, Kahn SM, St George J, Levy NC, Romas NA, Rosner W (July 2002). "Sex hormone-binding globulin in the human ...
14 chromosomes. It contains approximately 1 Gbp (giga base pairs) or 10 9 base pairs. This genome size is close to the average ... The ciliary photoreceptor cells resemble molecularly and morphologically the rods and cones of the human eye. Additional, they ... A pair of these eyes mediate phototaxis in the early Platynereis dumerilii trochophore larva. In the later nectochaete larva, ... Jha, A. N.; Hutchinson, T. H.; Mackay, J. M.; Elliott, B. M.; Pascoe, P. L.; Dixon, D. R. (1995). "The chromosomes Of ...
The Y-chromosome is one of the 23rd pair of human chromosomes. Only males have a Y-chromosome, because women have two X ... Autosomal DNA tests look at chromosome pairs 1-22 and the X part of the 23rd chromosome. The autosomes (chromosome pairs 1-22) ... 2016). "The Divergence of Neandertal and Modern Human Y Chromosomes". The American Journal of Human Genetics. 98 (4): 728-34. ... The mitochondrion is a component of a human cell, and contains its own DNA. Mitochondrial DNA usually has 16,569 base pairs ( ...
Human PTCHD4 is located on the negative strand of chromosome 6, at 6p12.3. From there, it covers 190,350 base pairs, which ... Check date values in: ,accessdate= (help) "The Human Protein Atlas". The Human Protein Atlas. Retrieved 2015. Check date values ... "The Human Gene Compendium". Gene Cards. Retrieved 2015. Check date values in: ,accessdate= (help) "National Center for ... Sequenced distant orthologs of human PTCHD4 have been found as far back in evolution as mold, which shows a conservation of 16 ...
Chromosome 16 open reading frame 95 (C16orf95) is a gene which in humans encodes the protein C16orf95. It has orthologs in ... Compared to other human proteins, C16orf95 has more cysteine, arginine, and glutamine residues. It has fewer aspartate, ... The longest transcript contains 1156 base pairs and 7 exons. Compared to variant 1, the second transcript variant lacks exons 4 ... "C16orf95 chromosome 16 open reading frame 95 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-05-03 ...
Earlier (1988-2003) with Lap-chee Tsui, he led studies of human chromosome 7, in particular in the mapping phase of the Human ... A 1.5 million base pair inversion polymorphism in families with Williams-Beuren syndrome. 2001. Nature Genetics 29, 321-325. ... American Journal of Human Genetics, ePub ahead of print July 10, 2013. Google Scholar citation The treasures of chromosome 7. ... Structural variation of chromosomes in autism spectrum disorder. 2008. American Journal of Human Genetics 82, 477-88. Google ...
It has only four pairs of chromosomes - three autosomes, and one pair of sex chromosomes. ... Similarity to humans[edit]. A March 2000 study by National Human Genome Research Institute comparing the fruit fly and human ... contains four pairs of chromosomes - an X/Y pair, and three autosomes labeled 2, 3, and 4. The fourth chromosome is so tiny, it ... Drosophila flies have both X and Y chromosomes, as well as autosomes. Unlike humans, the Y chromosome does not confer maleness ...
COL7A1 is located on the short arm of human chromosome 3, in the chromosomal region denoted 3p21.31. The gene is approximately ... COL7A1 is transcribed into an mRNA of 9,287 base pairs. In the skin, the type VII collagen protein is synthesized by ... Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene. This gene encodes the alpha chain of ... Greenspan DS, Byers MG, Eddy RL, Hoffman GG, Shows TB (1993). "Localization of the human collagen gene COL7A1 to 3p21.3 by ...
Humans carry pairs of chromosomes, so each individual possesses two copies of the gephyrin gene. Dark blue and red horizontal ... XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (1): 65-73. ... David-Watine B (2001). "The human gephyrin (GPHN) gene: structure, chromosome localization and expression in non-neuronal cells ... Gephyrin is a protein that in humans is encoded by the GPHN gene.[5][6][7][8][9] ...
The human PION gene is located on the long (q) arm of chromosome 7 at band 11.23, from base pair 76,778,007 to base pair ... The name of the human PION gene derives the corresponding Drosophila gene. The transcribed human pigeon homolog protein is 854 ... Protein pigeon homolog also known as gamma-secretase activating protein (GSAP) is a protein that in humans is encoded by the ... December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings ...
This means that the defective gene is located on an autosome (chromosome 16 is an autosome), and two copies of the defective ... The second mutation is a base pair insertion in the mature RNA that will eventually result in the protein truncation. A ... By 1999, only seven cases of Malonyl- CoA decarboxylase deficiency had been reported in human in Australia; however, this ... Malonyl-CoA decarboxylase deficiency is caused by mutations in the MLYCD gene, located on chromosome 16q24. The gene encodes ...
Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 16". Genet Test. 3 (2): 243-54. ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... G-bands of human chromosome 16 in resolution 850 bphs[18] Chr. Arm[19] Band[20] ISCN. start[21] ISCN. stop[21] Basepair. start ... Wikimedia Commons has media related to Human chromosome 16.. *. National Institutes of Health. "Chromosome 16". Genetics Home ...
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 17.. The following is a partial list of genes on human chromosome 17. For complete ... "Chromosome 17". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 17". Human Genome Project Information Archive ... Human chromosome 17 pair after G-banding.. One is from mother, one is from father. ...
Human Y chromosome[edit]. In humans, the Y chromosome spans about 58 million base pairs (the building blocks of DNA) and ... Stevens proposed that chromosomes always existed in pairs and that the Y chromosome was the pair of the X chromosome discovered ... Human Y-chromosome DNA haplogroup. The human Y chromosome is normally unable to recombine with the X chromosome, except for ... The DNA in the human Y chromosome is composed of about 59 million base pairs.[5] The Y chromosome is passed only from father to ...
Chromosome X open reading frame 36 (CXorf36) is a gene that in humans encodes a protein "hypothetical protein LOC79742". This ... The genomic DNA is 52,529 base pairs long, while the longest mRNA that it produces is 4,735 bases long. CXorf36 is closely ... CXorf36 has one paralog in humans known as C3orf58. Orthologs have been found in all mammals and through numerous eukaryotes. ... Check date values in: ,access-date= (help) Human CXorf36 genome location and CXorf36 gene details page in the UCSC Genome ...
As this karyotype displays, a diploid human cell contains 22 pairs of homologous chromosomes and 2 sex chromosomes.. Section ... chromosomes." For example, the number of homologous sets of chromosomes in humans is 23 if one considers a "set" to be one pair ... Number of homologous pairs[edit]. The introduction states: a typical human somatic cell contains [...] 23 homologous chromosome ... What about the X chromosome and Y chromosome in male humans? By the definition they do not belong to any homologous set, since ...
PAR1 comprises 2.6 Mbp of the short-arm tips of both X and Y chromosomes in humans and great apes (X and Y are 155 Mbp and 59 ... Pairing (synapsis) of the X and Y chromosomes and crossing over (recombination) between their pseudoautosomal regions appear to ... The function of these pseudoautosomal regions is that they allow the X and Y chromosomes to pair and properly segregate during ... between the pseudoautosomal regions of the X and Y chromosomes can disrupt pairing and recombination, and consequently cause ...
The jack jumper ant genome is contained on a single pair of chromosomes (males have just one chromosome, as they are haploid). ... Their sting generally only causes a mild local reaction in humans; however, it is one of the few ant species that can be ... Crosland, M.W.J.; Crozier, R.H. (1986). "Myrmecia pilosula, an ant with only one pair of chromosomes". Science. 231 (4743): ... this ant and other members of the complex are known to have a single pair of chromosomes. ...
Any orthologs from species more distant from humans than other mammals are likely not related in function, however, the P-S-E-R ... Isoform 1 is 5,388 amino acids long encoded in 5 exons over 16,401 base pairs. Isoform 2 uses an alternate start site of ... "Homo sapiens gene C2orf16, encoding chromosome 2 open reading frame 16". AceView. NCBI National Institute of Health. Retrieved ... C2orf16 is found to be highly expressed in the testes and a retinoic acid and mitogen-treated human embryonic stem cell line, ...
A key event during meiosis is the pairing of homologous chromosomes and recombination (exchange of genetic information) between ... Currently feasible in mice, IVG is poised for future success in humans and promises new possibilities for the fields of ... Computers in Human Behavior. 97: 271-279. doi:10.1016/j.chb.2019.02.012. ISSN 0747-5632. Cohen, Glenn; Daley, George Q.; Adashi ... This technique is currently feasible in mice and will likely have future success in humans and nonhuman primates. Fungi, algae ...
The chromosome of strain KIM is 4,600,755 base pairs long; the chromosome of strain CO92 is 4,653,728 base pairs long. Like Y. ... In humans and other susceptible hostsEdit. Pathogenesis due to Y. pestis infection of mammalian hosts is due to several factors ... DNA evidence indicates Y. pestis infected humans 5,000 years ago in Bronze Age Eurasia,[47] but genetic changes that made it ... It is a facultative anaerobic organism that can infect humans via the oriental rat flea.[2] It causes the disease plague, which ...
The chromosomes in this snail are small, and the haploid number of chromosomes is 18. A complete genome sequence from the ... 1997). The genome length is estimated as about 929,10 Mb (millions of base pairs; 0.95 ± 0.01 pg), which is a small genome size ... Sequencing of the whole genome was approved as a priority by National Human Genome Research Institute in August 2004, Its ... PMID 16153319.. Crompton, D. W. (1999). "How much human helminthiasis is there in the world?" (PDF). The Journal of ...
Some classify them as 6 pairs of macrochromosomes, one pair of sex chromosomes, with the remaining 32 pairs being intermediate ... The smallest chromosome in humans is normally chromosome 21, which is 47 Mb. Minichromosome Fillon, Valérie (1998). "The ... five pairs of intermediate chromosomes, and twenty-eight pairs of microchromosomes. Microchromosomes represent approximately ... Groups of these correspond almost exactly with large sections of certain human chromosomes. For example, linkage groups ...
This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.. *v ... "Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31→q32.1". Cytogenet. Cell Genet. 90 (1-2 ... Homeobox protein Hox-D8 is a protein that in humans is encoded by the HOXD8 gene.[5][6][7] ... Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): 256-65. doi:10.1002/ajmg.10776. ...
The institute is also the first develop a test to detect chromosome translocations in human embryos to increase the success ... 2009 First Paired Kidney Exchange in New Jersey Performed, Family Health Magazine, Spring/Summer 2006 - accessed July 11, 2009 ... Human cloning is a long way off, but bioengineered kids are already here, Washington Monthly, March 2002 - accessed July 11, ... The division performed the first paired kidney exchange in New Jersey at Saint Barnabas Medical Center in 2005. Over time, it ...
They are usually found in pairs (diplococci) and do not form spores and are nonmotile.[2] As a significant human pathogenic ... For a bacterium to bind, take up, and recombine exogenous DNA into its chromosome, it must enter a special physiological state ... The genome of S. pneumoniae is a closed, circular DNA structure that contains between 2.0 and 2.1 million base pairs depending ... pneumoniae can be found in the human upper respiratory system. A study of competition in vitro revealed S. pneumoniae ...
When adenine is deaminated, it becomes hypoxanthine, which can pair with cytosine. During replication, the cytosine will pair ... It further contends that only a minority of the genetic material is kept in circular chromosomes while the rest is in branched ... but not human mtDNA).[21] ... Hypoxanthine can bind to cytosine, and when the XC base pair is ... Chloroplast DNAs are circular, and are typically 120,000-170,000 base pairs long.[4][7][8] They can have a contour length of ...
Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.[5] ... Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". ... Poleev A, Fickenscher H, Mundlos S, Winterpacht A, Zabel B, Fidler A, Gruss P, Plachov D (November 1992). "PAX8, a human paired ... Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a paired-type ...
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ... At 4.7 million nucleotides in length, A1::DQ2 is the second longest haplotype identified within the human genome.[1] A1::DQ2 ...
By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... "American Journal of Human Genetics. 64 (1): 225-31. doi:10.1086/302198. PMC 1377721. PMID 9915962.. ... Van Den Berghe, Pierre L (2010). "Human inbreeding avoidance: Culture in nature". Behavioral and Brain Sciences. 6: 91-102. doi ... HumansEdit. See also: Incest, Incest taboo, Pedigree collapse, and Cousin marriage ...
... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... Each probe for the detection of mRNA and lncRNA is composed of 20 oligonucleotide pairs, each pair covering a space of 40-50 bp ... The chromosomes can be seen in blue. The chromosome that is labeled with green and red spots (upper left) is the one where the ... Then, an interphase or metaphase chromosome preparation is produced. The chromosomes are firmly attached to a substrate, ...
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene.[5] Presenilin-1 is one of the four ... Kang DE, Soriano S, Xia X, Eberhart CG, De Strooper B, Zheng H, Koo EH (September 2002). "Presenilin couples the paired ... "Genetic linkage evidence for a familial Alzheimer's seasesease locus on chromosome 14". Science. 258 (5082): 668-71. Bibcode: ... Tanahashi H, Tabira T (February 1999). "Isolation of human delta-catenin and its binding specificity with presenilin 1". ...
Sigurdsson S, Van Komen S, Petukhova G, Sung P (Nov 2002). "Homologous DNA pairing by human recombination factors Rad51 and ... condensed chromosome. • nuclear chromosome, telomeric region. • nucleus. • nuclear chromatin. • lateral element. • cytosol. • ... nuclear chromosome. • mitochondrial matrix. • nucleolus. • mitochondrion. • perinuclear region of cytoplasm. • chromatin. • ... condensed nuclear chromosome. • macromolecular complex. Biological process. • regulation of protein phosphorylation. • strand ...
These were foxes that were eager to have human contact. By the 10th generation 18 percent of fox pups were in this "elite" ... even though the fox genome has 16 pairs of metacentric autosomes and the dog has 37 pairs of acrocentric autosomes.[10] ... Using 320 microsatellites Trut and co-workers showed that all 16 fox autosomes and one X chromosome were covered, and that ...
... usually have a single circular chromosome,[129] with as many as 5,751,492 base pairs in Methanosarcina acetivorans,[130 ... making up about one in ten of all the prokaryotes in the human gut.[197] In termites and in humans, these methanogens may in ... Circular chromosomes, similar translation and transcription to Eukarya. Circular chromosomes, unique translation and ... after the cell's chromosome is replicated and the two daughter chromosomes separate, the cell divides.[154] In the genus ...
... each human diploid cell (containing 23 pairs of chromosomes) has about 1.8 meters of DNA; wound on the histones, the diploid ... This involves the wrapping of DNA around nucleosomes with approximately 50 base pairs of DNA separating each pair of ... of the human genome in five human cell lines". Genome Research. 17 (6): 691-707. doi:10.1101/gr.5704207. PMC 1891331. PMID ... is a transcription factor which activates histone gene transcription on chromosomes 1 and 6 of human cells. NPAT is also a ...
Likewise, gray wolf Y-chromosomes have also been found in a few individual male Texan coyotes.[11] This study suggested that ... By late 2012, it was estimated that there were at least 75 wolves and four breeding pairs living in the recovery areas, with 27 ... The Mexican wolf persisted longer in Mexico, as human settlement, ranching and predator removal came later than in the ... A pair of Mexican wolves with pups at Sevilleta Wolf Management Facility in Socorro, New Mexico ...
Pu'er with chrysanthemum is the most common pairing, and referred as guk pou or guk bou (菊普; Cantonese Yale: guk1 pou2; pinyin ... Larger specimens of this shape are sometimes called "human-head tea" (人頭茶), due in part to its size and shape, and because in ... This notion has recently been refuted through a systematic chromosome analysis of the species attributed to many East Asian ... Wild trees (gŭshù, 古树; literally "old tree"): Teas from old wild trees, grown without human intervention, are the highest ...
Crosland, M.W.J., Crozier, R.H. Myrmecia pilosula, an ant with only one pair of chromosomes. Science. 1986, 231 (4743): 1278. ... Ijdo, J. W., Baldini, A., Ward, D. C., Reeders, S. T., & Wells, R. A. Origin of human chromosome 2: an ancestral telomere- ... 選擇可以作用在基因而非個體的層級,即使降低個體的適應度,自私DNA仍然可以演化,造成基因組內部衝突。例子包括跳躍子、減數分裂驅動者(meiotic drivers)、殺手X染色體(killer X chromosomes)、自私粒線體(
Genes on human chromosome 11. *Genes on human chromosome 14. *Genes on human chromosome 20 ... In 1943, with the help of Arda Green, the pair illustrated that glycogen phosphorylase existed in either the a or b forms ... The cloning of the human liver glycogen phosphorylase (HLGP) revealed a new allosteric binding site near the subunit interface ... 16] Symptoms of McArdle disease include muscle weakness, myalgia, and lack of endurance, all stemming from low glucose levels ...
HumansEdit. Humans are bilaterals and deuterostomes. In humans, the term embryo refers to the ball of dividing cells from the ... Pair-rule genes define 7 segments of the embryo within the confines of the second broad segment that was defined by the gap ... Thus, a fly whose chromosomes are mutant in both copies of the Bicoid gene but who is born from a mother carrying one normal ... As of today, human embryology is taught as a cornerstone subject in medical schools, as well as in biology and zoology programs ...
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ... Her C, Wu X, Griswold MD, Zhou F (Feb 2003). "Human MutS homologue MSH4 physically interacts with von Hippel-Lindau tumor ... Räschle M, Dufner P, Marra G, Jiricny J (Jun 2002). "Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha ...
"A Y Chromosome Census of the British Isles" (PDF).. *^ Härke, Heinrich; Thomas, Mark G; Stumpf, Michael P H. "Integration ... earthsky.org/human-world/jawbone-is-earliest-evidence-of-modern-humans-in-europe ... The Acts of Union between the Kingdom of England and the Kingdom of Scotland were a pair of Parliamentary Acts passed by both ... "Y Chromosome Evidence for Anglo-Saxon Mass Migration".. *^ " ... Continuous human habitation in England dates to around 13,000 ...
... chromosome translocation in a human leukemia T-cell line indicates that putative regulatory regions are not altered". Proc. ... 3.2) Paired box. PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) ... ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, ... Astrin SM, Laurence J (1992). "Human immunodeficiency virus activates c-myc and Epstein-Barr virus in human B lymphocytes". Ann ... Guilhot S, Petridou B, Syed-Hussain S, Galibert F (1989). "Nucleotide sequence 3' to the human c-myc oncogene; presence of a ...
"Final report on the human rights situation of the Roma, Sinti and travellers in Europe". The European Commissioner for Human ... "Y CHROMOSOME SINGLE NUCLEOTIDE POLYMORPHISMS TYPING BY SNaPshot MINISEQUENCING" (PDF). Bjmg.edu.mk. Retrieved 20 December 2016. ... and art present romanticized narratives of mystical powers of fortune telling or irascible or passionate temper paired with an ... European Journal of Human Genetics. 9 (2): 97-104. doi:10.1038/sj.ejhg.5200597. PMID 11313742. Archived from the original (PDF) ...
Modern Human Origins, and Complex Disease Mapping, Annual Review of Genomics and Human Genetics" (pdf). 9. Retrieved December ... In the 2003 PBS programme African American Lives, Bishop T.D. Jakes had his DNA analyzed; his Y chromosome showed[dubious - ... Igbo women were paired with Coromantee (Akan) men to subdue the men because of the belief that the women were bound to their ... Institute for the Study of Human Issues.. *^ ". Chisholm, Hugh, ed. (1911). "Ibo". Encyclopædia Britannica. 14 (11th ed.). ...
... a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187-91. doi:10.1002/humu.22468. PMID ... Position (base pair): 180. Total size (base pairs): 366. Forward 5′→ 3′: aactcttgataaaccgtgctg. Reverse 5′→ 3′: ... a b c The Y Chromosome Consortium 2008 *^ a b c d e f g Cristofaro; et al. (2013). "Afghan Hindu Kush: Where Eurasian Sub- ... 2004). "Excavating Y-chromosome haplotype strata in Anatolia". Human Genetics. 114 (2): 127-48. doi:10.1007/s00439-003-1031-4. ...
"The Y Chromosome Pool of Jews as Part of the Genetic Landscape of the Middle East". The American Journal of Human Genetics. 69 ... that overlies Druze and Cypriot samples but not samples from other Levantine populations or paired Diaspora host populations. ... "American Journal of Human Genetics. 86 (6): 850-9. doi:10.1016/j.ajhg.2010.04.015. PMC 3032072. PMID 20560205.. ... "European Journal of Human Genetics. 15 (4): 498-500. doi:10.1038/sj.ejhg.5201764. PMID 17245410.. ...
The genotype of the male consists of a Y chromosome paired with an X chromosome. Female gender is determined by the absence of ... Redirected from Human male reproductive system). This article is about the reproductive system in human males. For the male ... This occurs when one X chromosome contains a segment of the Y chromosome, which was inserted into the X chromosome of the ... If this sperm cell contains an X chromosome it will coincide with the X chromosome of the ovum and a female child will develop ...
SMN1 is located in a telomeric region of human chromosome 5 and also contains SMN2 in a centromeric region. SMN1 and SMN2 are ... This single base pair change leads to only 10-20% of SMN2 transcripts resulting in fully functional SMN protein and 80-90% of ... European Journal of Human Genetics : EJHG. 21 (6): 643-52. doi:10.1038/ejhg.2012.222. PMC 3658191. PMID 23073311.. ... American Journal of Human Genetics. 85 (3): 408-13. doi:10.1016/j.ajhg.2009.08.002. PMC 2771537. PMID 19716110.. ...
... arm of chromosome 20 between the end (terminus) of the arm and position 12, from base pair 4,615,068 to base pair 4,630,233. ... of a human gene homologous to the PrP gene on the p arm of chromosome 20 and detection of PrP-related antigens in normal human ... "Assignment of the human and mouse prion protein genes to homologous chromosomes". Proc. Natl. Acad. Sci. U.S.A. 83 (19): 7358- ... thought to be due to human ingestion of diseased individuals, and vCJD, thought to be due to human ingestion of BSE-tainted ...
They gathered subjects with a mean age of 59, who included 99 pairs of identical twins, and 229 pairs of fraternal twins who ... "Human Intelligence.. *^ a b c Alan, E.S. (2012). "Issues in Birth Order Research Methodology: Perspectives from Individual ... This is very rare and is due to there being a smaller possibility of inheriting the same chromosomes from the shared parent. ... They also gathered twins who were reared together: 160 pairs of identical twins, and 212 pairs of fraternal twins. They studied ...
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 16" 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 16" by people in this website by year ... Below are the most recent publications written about "Chromosomes, Human, Pair 16" by people in Profiles. ...
Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 16". Genet Test. 3 (2): 243-54. ... Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e. ... G-bands of human chromosome 16 in resolution 850 bphs[18] Chr. Arm[19] Band[20] ISCN. start[21] ISCN. stop[21] Basepair. start ... Wikimedia Commons has media related to Human chromosome 16.. *. National Institutes of Health. "Chromosome 16". Genetics Home ...
CTCF protein binds to DNA upstream of the H19 gene on chromosome band 11p15, and maintains … ... Chromosome arm 16q is a common site of loss of heterozygosity (LOH) in Wilms tumors (WTs). The mechanism and consequences of ... Chromosome Mapping * Chromosomes, Human, Pair 16 / genetics* * DNA Mutational Analysis / methods * DNA-Binding Proteins / ... Chromosome arm 16q is a common site of loss of heterozygosity (LOH) in Wilms tumors (WTs). The mechanism and consequences of ...
Trisomy 16 is the most common trisomy in spontaneous abortions and is usually, if not always, lethal in the nonmosaic state. We ... report a liveborn infant with trisomy 16 mosaicism first diagnosed by amniocentesis at 20 weeks gestation. At birth, the infant ... Chromosome Aberrations* * Chromosomes, Human, Pair 16* * DNA / analysis * Female * Humans * Infant, Newborn ... maternal heterodisomy for chromosome 16 Clin Genet. 1993 Oct;44(4):185-9. doi: 10.1111/j.1399-0004.1993.tb03876.x. ...
Does Barcoding DNA Reveal a Single Human Ancestral Pair?. I dont think the study can claim all the things it does based on the ... in which they claim that there never was an original pair of humans like Adam and Eve. ... On Prejudiced Models and Human Origins. Recently Dennis Venema joined with Scot McKnight to publish a book, Adam and the Genome ... Mitochondrial Eve and Y-Chromosome Adam, and Adam and the Genome. Both evolutionists and Darwin-skeptics believe that all ...
... a rare chromosomal translocation involving chromosome 21 in de novo and therapy-related acute myeloid leukemia (AML), produces ... Chromosomes, Human, Pair 21*. Female. Humans. In Situ Hybridization, Fluorescence. Karyotyping. Leukemia, Myeloid, Acute. ... 8258304 - The human gene for nuclear protein bm28 (cdcl1), a new member of the early s-phase fami.... 15026324 - Usp6 (tre2) ... 24247464 - Genetical analysis of chromosome 5a of wheat and its influence on important agronomic c.... 14599104 - On-substrate ...
We report 16 patients with the t(6;9), of whom 13 had AML, 2 had myelodysplastic syndrome (MDS), and 1 had chronic myeloid leuk ... Chromosomes, Human, Pair 6*. Chromosomes, Human, Pair 9*. Female. Hematopoietic Stem Cell Transplantation. Humans. Karyotyping ... Next Document: Three rearrangements of chromosome 5 in a patient with myelodysplastic syndrome: an atypical deletio.... ... We report 16 patients with the t(6;9), of whom 13 had AML, 2 had myelodysplastic syndrome (MDS), and 1 had chronic myeloid ...
... base pairs) and represents almost 3 percent of the total DNA in cells. Learn about health implications of genetic changes. ... Chromosome 16 spans more than 90 million DNA building blocks ( ... Ensembl Human Map View: Chromosome 16. *Gilbert F. Disease ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 16, one copy inherited from ... The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004 Dec 23;432(7020):988-94. Citation on PubMed ...
For these reasons, it wasnt until 1956 that the correct number of 46 human chromosomes (23 pairs) was clearly demonstrated. ... when researchers began to study chromosomes, the analysis of human chromosomes has presented a particularly tough technological ... the strands of human genetic material tend to bunch together maddeningly, overlapping and intertwining like so much spaghetti. ... or Giemsa dyes distinguished unequivocally only four of the 23 chromosome pairs. The chromosome pairs were then grouped crudely ...
Humans have 23 pairs of chromosomes. This is chromosome 16, which carries between 850 and 1200 genes. Gene defects on this ... Each chromosome consists of two identical, parallel strands (chromatids, left and right), joined at an area called a centromere ... Chromosomes are a packaged form of the genetic material DNA (deoxyribonucleic acid), and form during cell replication. ... chromosome are related to diseases such as Crohns disease and thalassaemia, and may also contribute to obesity. Magnification ...
Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... See also: Category:Genes on human chromosome 17.. The following is a partial list of genes on human chromosome 17. For complete ... "Chromosome 17". Genetics Home Reference. Retrieved 2017-05-06.. *. "Chromosome 17". Human Genome Project Information Archive ... Human chromosome 17 pair after G-banding.. One is from mother, one is from father. ...
Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 ... "Chromosome 8". Genetics Home Reference. Retrieved 2017-05-06. "Chromosome 8". Human Genome Project Information Archive 1990- ... The following is a partial list of genes on human chromosome 8. For complete list, see the link in the infobox on the right. ... "Human chromosome 8: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16. "Search ...
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 16, one copy inherited from ... Chromosome 16 spans about 89 million base pairs (the building blocks of DNA) and represents almost 3 percent of the total DNA ... Chromosome 16 likely contains between 850 and 1,200 genes.. Genes on chromosome 16 are among the estimated 20,000 to 25,000 ... Scientists have identified a pair of treatments that may restore brain function to autism patients who lack a gene critical to ...
In humans, diploid cells contain 46 chromosomes (in 23 pairs).. Divergence (evolutionary)-During evolution, variations occur in ... The DNA within the complete cellular set of chromosomes (23 pairs in humans) comprises two copies of the genome, one from each ... 23 in humans). In contrast, body cells (somatic cells) are diploid, having two sets of chromosomes (46 in humans) (adapted from ... Human Genome Editing considers important questions about the human application of genome editing including: balancing potential ...
Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 9 - genetics Genes, Recessive Genetic Linkage Humans Phenotype ... Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 9 - genetics Female Finland Genetic markers Genetic ... Chromosomes, Human, Pair 9 - genetics Cohort Studies DNA Mutational Analysis De Lange Syndrome - genetics Female Humans Male ... Chromosome Mapping Chromosomes, Human, Pair 9 - genetics Comorbidity Genetic Linkage Genetic markers Genetic Predisposition to ...
Chromosomes, Human, Pair 15 (genetics) *Chromosomes, Human, Pair 16 (genetics) *Female. *Gene Amplification ... This supports a role for chromosome-specific effects in the pathogenesis of trisomy (gene dosage hypothesis). In addition, both ... including dosage-dependent over-expression of the chromosome 16-encoded ERK1 in trisomy 16. ... Trisomy in pregnancy increases risks of miscarriage, fetal anomalies, and perinatal complications, with trisomy 16 the most ...
Sex chromosomes X and Y are the 23rd pair in humans. There are two Xs in females but only a single X in males, whereas the ... Chromosomes differ in their sizes. The smallest human chromosome is chromosome 21 (50 Mb) and the largest one is chromosome 1 ( ... Despite morphological dissimilarity, human sex chromosomes pair also in male meiosis and a single obligatory recombination ... Number of chromosome pairs: humans 23; gorilla 24; cattle 30; dog 39; mouse 20; goldfish 47; tobacco plants 24; peas 7; ...
We first examined XIST expression by quantitative RT-PCR using primer pairs that detect XIST-specific splice patterns. HUES1, ... 2002) An ectopic human XIST gene can induce chromosome inactivation in postdifferentiation human HT-1080 cells. Proc Natl Acad ... X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells. Susana S. Silva, Rebecca K. Rowntree, Shila ... X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells. Susana S. Silva, Rebecca K. Rowntree, Shila ...
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 16, one copy inherited from ... Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 16. Genet Test. 1999;3(2):243-54. ... The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004 Dec 23;432(7020):988-94. (PDF) ... The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004 Dec 23;432(7020):988-94. ...
... the vast majority of it is in chromosomes in the nucleus; but a small amount is in each mitochondrio... ... base pair. multiregional. Nuclear Detonation Sensors. chromosome. antigen. cell. genome. Human Genome Project. DNA. Carolina ... There are two places in a cell where DNA is stored: the vast majority of it is in chromosomes in the nucleus; but a small ... Humans have 37 genes in their mitochondria, in a total of only 16 569 base pairs. Compare this to the genome in the chromosomes ...
1 *Chromosomes, Human, Pair 16. *1 *Gene Silencing. *1 3T3 Cells. *1 Breast Neoplasms/blood/genetics ... Human chromosome 16 suppresses metastasis but not tumorigenesis in rat prostatic tumor cells. Mashimo, T; Watabe, M; Cuthbert, ... Human acrocentric chromosomes with transcriptionally silent nucleolar organizer regions associate with nucleoli. Sullivan, GJ; ...
How many pairs of chromosomes does the human body have in its cells ... In a parent cell with two chromosomes, each chromosome replicates itself. the chromosomes line up along the centre of the cell ... 3-The effect of cloning on a humans mental and emotional development isnt known.. 4-Religious views say that cloning humans ... To produce a required substance: e.g. the gene for human insulin can be inserted into bacteria to make insulin on a large scale ...
3. A human cell contains twenty-three pairs of autosomal chromosomes. 4. A human cell contains two sex chromosomes. 5. The ... 2. Nondisjunction is the failure of chromosome pairs or sister chromatids to separate properly during cell division. An example ... Jocelyn Hochsztein 4/28/14 P.2 E.O.C Exam Study Guide 1. A chromosomal disorder is a chromosome anomaly, abnormality, or ...
He hopes to use ELG1, which naturally marks damaged regions of DNA, to zoom in on the sites on each human chromosome that are ... often affecting just one or two of the approximately three billion base pairs in the human genome. At NHGRI, Dr. Myung focuses ... But in one of the cells is a glowing green chunk- part of a chromosome. "That could be a broken piece of chromosome, a type of ... Exploring genomes - frequently human, but often mouse and yeast genomes as well - fills his day as a National Human Genome ...
This page: Six Quirks of the Human Genome by Dan Koboldt ... we typically refer to the 23 pairs of chromosomes: 1-22, X, and ... The human genome comprises 3.2 billion base pairs spread across 24 distinct chromosomes. In 1990, as the Human Genome Project ... The mitochondrial chromosome. The human mitochondrial genome is around 37,500 base pairs long and contains 37 protein-coding ... Human endogenous retroviruses, or "fossil viruses," make up about 1% of our 3.2 billion base pairs. And many of them are active ...
For instance, the largest human chromosome, chromosome number 1, is 220 million base pairs long.[17] ... The set of chromosomes in a cell makes up its genome. The human genome has approximately 3 billion base pairs of DNA arranged ... The GC base pair is therefore stronger than the AT base pair. As a result, it is both the percentage of GC base pairs and the ... and in human cells the different chromosomes even occupy separate areas in the nucleus called "chromosome territories."[105] ...
haploid being one half set of chromosomes and diploid being one whole set of chromosomes. ... Haplo-diploidy reproduction by half sets of chromosomes to form full sets by sexual reproduction. ... The chromosomes of insects, like most animals occur in pairs. (There are sixteen pairs in honey bees.) There are two types of ... In humans, each cell (somatic and germ) has a full complement of chromosome pairs; this condition is known as diploid. However ...
Each orange line represents a single mate-pair as a link between one end of a read and its mate-pair. Between the breakpoints ... The outer ring represents the chromosomes displaying tick marks every 100 bases. The green plot shows base-coverage for each ... U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line. Figure 6. Reads spanning ... This suggests an interchromosomal translocation between chromosomes 2 and 16 resulting in a loss of the genomic material ...
Chromosome Location:. 5:64491713-64494299question. Amplicon Length:. 114. Splice Variants Targeted:. ENSDART00000082952. ... human). Aliases:. Not Available. RefSeq:. NM_001082803. ...
  • The following are some of the gene count estimates of human chromosome 16. (wikipedia.org)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (wikipedia.org)
  • So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. (wikipedia.org)
  • CTCF protein binds to DNA upstream of the H19 gene on chromosome band 11p15, and maintains normal imprinting of H19 and IGF2. (nih.gov)
  • The t(16;21)(q24;q22), a rare chromosomal translocation involving chromosome 21 in de novo and therapy-related acute myeloid leukemia (AML), produces a RUNX1-CBFA2T3 fusion gene (previously AML1-MTG16) fusion gene. (biomedsearch.com)
  • Gene defects on this chromosome are related to diseases such as Crohn's disease and thalassaemia, and may also contribute to obesity. (sciencephoto.com)
  • Chromosome 17 contains the Homeobox B gene cluster. (wikipedia.org)
  • The following are some of the gene count estimates of human chromosome 17. (wikipedia.org)
  • Scientists have identified a pair of treatments that may restore brain function to autism patients who lack a gene critical to maintaining connections between neurons, according to a study from the Peter O'Donnell Jr. Brain Institute at UT Southwestern Medical Center. (news-medical.net)
  • Allele- A variant form of a gene at a particular locus on a chromosome. (nap.edu)
  • Underexpression of this gene has also been linked to disease consequences in humans. (wikipedia.org)
  • The primary transcript of this gene is 1,919 base pairs long. (wikipedia.org)
  • Using the Dotlet program, a dot plot was constructed comparing the Human gene with its Chimpanzee ortholog. (wikipedia.org)
  • This sequence similarity in the 5' UTR and 3' UTR does not extend past mammalian species, and shows almost no similarity in a Dot Plot of the Human gene with distantly related species, such as Xenopus tropicalis. (wikipedia.org)
  • Near the start of transcription site in the human C16orf13 gene, there is high conservation among the primates in which upstream data was available, specifically the human, orangutan, and rhesus monkey C16orf13 gene orthologs. (wikipedia.org)
  • The human expression profile from NCBI UniGene suggests that this gene has widespread expression in many different tissues in the body. (wikipedia.org)
  • The C16orf13 gene is located near the end of chromosome 16, potentially subject to deletion mutations. (wikipedia.org)
  • This supports a role for chromosome-specific effects in the pathogenesis of trisomy (gene dosage hypothesis). (curehunter.com)
  • Key points about meiosis: it halves the number of chromosomes per cell and it gives rise to new gene combinations (via crossing-over within the chromosomes and chromosomal re-assortment). (tripod.com)
  • Therefore, hexaploid wheat possesses three related genomes, totaling 16,000 Mb in size, composed of seven sets of six related chromosomes with similar gene orders and vast tracts of related and highly repetitive sequences. (pnas.org)
  • In this case, we had to aim at the gene called APP which is on the longest arm of chromosome 21. (genethique.org)
  • To survive, it has to get rid of the chromosome 21 on which the TKNEO gene was grafted. (genethique.org)
  • The gene for SHBG is called Shbg located on chromosome 17 [11] on the short arm between the bands 17p12→p13. (wikipedia.org)
  • Using these methods we have localized the PKD1 gene, mutated in the majority of PKD1 families, to a small (500 kb) segment of chromosome 16, band p13.3. (elsevier.com)
  • Southern analysis of DNA from hamster-human hybrids localized the human Mo1 alpha chain to chromosome 16, which has been shown to contain the gene for the alpha chain of lymphocyte function-associated antigen 1. (elsevier.com)
  • This was the case with recent research at the UK's Francis Crick Institute where the genomes of human embryos were-for the first time-edited to study the function of a gene during the first few days of development.4 The only alternative to using surplus embryos from fertility treatment is to create embryos specifically for research. (deepdyve.com)
  • The genes coding for two of these cone photoreceptors (L- and M-cones) are carried on the X-chromosome and any malformation of either gene in a female is necessarily expressed in the phenotype of a male offspring who inherits that gene. (pubmedcentralcanada.ca)
  • The HBP gene is composed of eight exons covering 19.5 kb on the short arm of chromosome 4. (embopress.org)
  • In addition, recombinant HBP expressed in S.cerevisiae was functional in histone pre‐mRNA processing, confirming that we have indeed identified the human HBP gene. (embopress.org)
  • Following the suppression of recombination, gene expression levels decline on the sex-limited chromosome, and this can lead to selection for dosage compensation in the heterogametic sex to rebalance average expression from the X or Z chromosome with average autosomal expression. (genetics.org)
  • We then use this evolutionary history to examine the relative strength of selection for sex chromosome dosage compensation vs. the cumulative effects of masculinizing selection on gene expression. (genetics.org)
  • We find that male-biased expression increases over time, indicating that selection for dosage compensation is relatively less important than masculinizing selection in shaping Z chromosome gene expression. (genetics.org)
  • At the same time, sex chromosomes experience changes in gene dose. (genetics.org)
  • Due to lack of recombination with their homologs, Y and W chromosome gene activity slowly degenerates by neutral processes ( Charlesworth 1996 ) and the buildup of nonsynonymous and nonsense mutations as well as small indels ( Zhou and Bachtrog 2012 ), where the rate of decay declines with the number of functionally constrained loci ( Bachtrog 2008 ). (genetics.org)
  • Gene expression loss shows a range of dominance ( Agrawal and Whitlock 2011 ), and for some genes, loss-of-function mutations on the W or Y chromosome will cause negative fitness effects ( Charlesworth 1978 ). (genetics.org)
  • Also removed was what is popularly termed junk DNA, including base pairs known not to encode for any particular proteins, and "jumping gene" segments known to randomly move around and introduce mutations. (newswise.com)
  • Normal human diploid cells placed in culture have a finite proliferative life-span and enter a nondividing state termed senescence, which is characterized by altered gene expression ( 1 , 2 ). (sciencemag.org)
  • Recently, an anonymous gene variant in C14ORF39/SIX6OS1 was identified that influences the recombination rate in humans. (nature.com)
  • From these observations, it is reasonable to expect that differences in gene copy number could be a significant source of genetic variation between humans. (sciencemag.org)
  • There are estimated to be over 4000 human diseases caused by single gene defects. (prezi.com)
  • Types Multiple gene disorder Depending on which type of chromosome is afected, they can be classified in Autosomal Sexual When the disease is related onto a no sexual chromosome Dominant Recesive Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. (prezi.com)
  • There is a race going on to lower the cost human gene sequencing to a level of a comprehensive battery of blood tests. (slideshare.net)
  • Gene sequencing allows scientists to map a chromosome. (slideshare.net)
  • In sexually reproducing organisms, each gene in an individual is represented by two copies, called alleles -one on each chromosome pair. (creationwiki.org)
  • Claim 16: A pair of single-stranded DNA primers for determination of a nucleotide sequence of a BRCA1 gene by a polymerase chin reaction, the sequence of said primers being derived from human chromosome 17q, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA having all or part of the sequence of the BRCA1 gene. (jdsupra.com)
  • Claim 17: The pair of primers of claim 16 wherein said BRCA1 gene has the nucleotide sequence set forth in SEQ ID NO:1. (jdsupra.com)
  • A pair of single-stranded DNA primers of at least 15 nucleotides in length for determination of the nucleotide sequence of a BRCA2 gene by a polymerase chain reaction, the sequence of said primers being isolated from human chromosome 13, wherein the use of said primers in a polymerase chain reaction results in the synthesis of DNA comprising all or at least 15 contiguous nucleotides of the BRCA2 gene. (jdsupra.com)
  • DNA methylation is a common epigenetic marker and plays important roles in the regulation of gene expression, genomic imprinting, X-chromosome inactivation, embryonic development, and cancer5. (ubc.ca)
  • Two copies of the alpha-globin gene (designated alpha-2 and alpha-1) are located on each chromosome 16. (bmj.com)
  • Regulation of human alpha-globin gene expression and alpha-thalassemia. (bmj.com)
  • Evidence for a gene influencing blood pressure on chromosome 17. (semanticscholar.org)
  • Tau is a candidate gene for chromosome 17 frontotemporal dementia. (semanticscholar.org)
  • Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire. (semanticscholar.org)
  • Cannizzaro LA, Aronson MM, Thiesen HJ (1993) Human zinc finger gene ZNF 23 (KOX 16) maps to a zinc finger gene cluster on chromosome 16q22 and ZNF32 (KOX 30) to chromosome region 10q23-q24. (springer.com)
  • The second exon is transcriptionally expressed in most species, yet human mRNA reflects only exon 1 and exon 3, suggesting to earlier workers that the gene had a different structure. (mad-cow.org)
  • Multiple linkage studies have found evidence suggestive of another AMD locus on chromosome 16p12 but the gene responsible has yet to be identified. (cdc.gov)
  • Purpose: Parkin , a gene mutated in autosomal recessive juvenile Parkinsonism and mapped to the common fragile site FRA6E on human chromosome 6q25-q27, is associated with a frequent loss of heterozygosity and altered expression in breast and ovarian carcinomas. (aacrjournals.org)
  • We examined 20 paired normal and non-small cell lung cancer samples for the presence of Parkin alterations in the coding sequence and changes in gene expression. (aacrjournals.org)
  • These observations suggest that chromosome 6q25-q27 harbors a tumor suppressor gene (TSG) involved in a wide variety of human cancers. (aacrjournals.org)
  • Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. (ox.ac.uk)
  • Exploring genomes - frequently human, but often mouse and yeast genomes as well - fills his day as a National Human Genome Research Institute (NHGRI) investigator in the Genetics and Molecular Biology Branch and head of the Genome Instability Section. (genome.gov)
  • One of the best parts about working as a genetics researcher is that the human genome continues to surprise us in new and puzzling ways. (clarkesworldmagazine.com)
  • Newswise - An international team of scientists led by Jef Boeke, PhD, director of NYU Langone Medical Center's Institute for Systems Genetics, has synthesized the first functional chromosome in yeast, an important step in the emerging field of synthetic biology, designing microorganisms to produce novel medicines, raw materials for food, and biofuels. (newswise.com)
  • Respondent Myriad Genetics, Inc. (Myriad), discovered the precise location and [2111] sequence of two human genes, mutations of which can substantially increase the risks of breast and ovarian cancer. (harvard.edu)
  • Ambry Genetics was one of the first companies to announce that it would provide genetic diagnostic testing for the BRCA 1 and BRCA 2 genes on the day the U.S. Supreme Court announced its decision in AMP v. Myriad Genetics on the question of "whether human genes are patentable. (jdsupra.com)
  • Using yeast genetics and a novel scheme to selectively remove a single protein from the cell division process called meiosis, a cell biologist at The Florida State University has found that when a key molecular player known as Pds5 goes missing, chromosomes fail to segregate and pair up properly. (fsu.edu)
  • In our series, unbalanced t(1;16) chromosomal translocations were a major pathway for Chr16 loss of heterozygosity, and this LOH was correlated significantly with tumor anaplasia. (nih.gov)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 16. (medlineplus.gov)
  • People with this chromosomal abnormality are missing a sequence of about 520,000 base pairs, also written as 520 kb, at position p12.2 on chromosome 16. (medlineplus.gov)
  • The chromosomes are divided and both parents contribute to their offspring's chromosomal DNA (in those species which reproduce sexually, which is almost all). (everything2.com)
  • A chromosomal disorder is a chromosome anomaly, abnormality, or aberration is a missing, extra, or irregular portion of chromosomal DNA. (majortests.com)
  • Ring chromosome 4 is a rare disorder that is typically characterized by loss (deletion) of genetic material from both ends of the 4th chromosome and joining of the chromosomal ends to form a ring. (rarediseases.org)
  • In addition, certain features may be similar to those seen in individuals with Wolf-Hirschhorn syndrome, which is a chromosomal disorder characterized by partial deletion (monosomy) of the short arm (p) of chromosome 4 (partial monosomy 4p) or features similar to those seen in individuals with partial deletion (monosomy) of the long arm (q) of chromosome 4 (partial monosomy 4q. (rarediseases.org)
  • Molecular cloning of the alpha subunit of human and guinea pig leukocyte adhesion glycoprotein Mo1: chromosomal localization and homology to the alpha subunits of integrins. (elsevier.com)
  • The following chromosomal conditions are associated with chromosome 16. (verywellhealth.com)
  • Unfortunately, this also makes trisomy 16 the most common chromosomal cause of miscarriages as the condition is not compatible with life. (verywellhealth.com)
  • Such failures in yeast result in sterility, and in humans, related errors can result in chromosomal mutations and birth defects such as Down syndrome. (fsu.edu)
  • The study shines new light on the protein Pds5, its crucial regulatory role during meiosis, and the impact of its absence on the molecular-level genesis of human chromosomal birth defects that include Down, Edwards, Patau, Turner, Klinefelter's and XYY syndromes. (fsu.edu)
  • This finding is highly important, because failure to generate a crossover between homologs leads to chromosome missegregation and can cause human chromosomal birth defects such as Down syndrome, which affects about one in 800 newborns in the United States. (fsu.edu)
  • Yeast shares roughly a third of its 6,000 genes functional units of chromosomal DNA for encoding proteins with humans. (nanowerk.com)
  • This information promises to revolutionize the processes of finding chromosomal locations for disease-associated sequences and tracing human history. (edinformatics.com)
  • This is different from the pair of homologous chromosomes, which represents the chromosomes inherited from the father and the mother. (tripod.com)
  • Mendel's first principle, segregation , is the direct result of the separation of homologous chromosomes during anaphase I of meiosis. (tripod.com)
  • Mendel's second principle, independent assortment , occurs because each pair of homologous chromosomes line up at the metaphase plate in meiosis I independently of all other pairs of homologous chromosomes. (tripod.com)
  • During meiosis, homologous chromosomes (homologues) recognize each other and then intimately associate. (pnas.org)
  • This cbfb is highly homologous to human and mouse CBFB/Cbfb genes at both the DNA and protein level. (zfin.org)
  • Meiotic recombination generates crossovers between homologous chromosomes that are essential for genome haploidization. (nature.com)
  • Homologous chromosomes become tethered together through numerous recombination events between homologous non-sister chromatids, which are triggered by double-strand break induction. (nature.com)
  • The SC is a proteinaceous structure that holds homologous chromosome pairs in synapsis during prophase I, from zygonema to pachynema. (nature.com)
  • The term diploid describes a state in which a cell has two sets of homologous chromosomes, or two chromosomes that are the same. (creationwiki.org)
  • Hence, gametes are said to be haploid-having only a single set of homologous chromosomes. (creationwiki.org)
  • A 16p11.2 duplication is an extra copy of the same 600 kb segment of chromosome 16 that is missing in 16p11.2 deletion syndrome (described above). (medlineplus.gov)
  • Skin fibroblasts revealed a trisomy 16 karyotype in 6 of 30 cells. (nih.gov)
  • Key to connecting chromosomes to symptoms and traits is the karyotype, a size-order alignment of chromosome pairs in a chart. (the-scientist.com)
  • A child with a collection of symptoms and an abnormal karyotype could best be diagnosed as having "an anomaly of a G group chromosome. (the-scientist.com)
  • In a second experimental effort, the yeast karyotype was recently completely engineered, by systematically fusing pairs of telomeres and deleting single centromeres, thus generating an isogenic series of yeast ranging from n=16 to n=2. (nsf.gov)
  • Human karyotype Genetic diseases composed of? (prezi.com)
  • Central dogma of molecular Duplication Transcription Translation Human Karyotype Genetic Most genetic disorders are quite rare and affect one person in every several thousands or millions. (prezi.com)
  • The structure of an integrated retrovirus is somewhat distinctive, and when we finished the sequence of the human genome, we noticed thousands of them already in it. (clarkesworldmagazine.com)
  • He and his team want to use the Y chromosome sequence from an actual person's genome: mine. (wired.com)
  • The sequence of a 378-base-pair insert from one immunoreactive clone revealed a single continuous open reading frame encoding 126 amino acids including a 26-amino acid tryptic peptide isolated from the purified guinea pig alpha subunit. (elsevier.com)
  • The human clone also encoded a 126-amino acid peptide including the sequence of an additional tryptic peptide present in purified human Mo1 alpha chain. (elsevier.com)
  • Schmutz and his group finished and assembled the human sequence of chromosomes 5, 16 and 19 for the public Human Genome Project. (hudsonalpha.org)
  • He also led the quality assessment of the human genome sequence that evaluated the accuracy and completeness of the final human genome sequence. (hudsonalpha.org)
  • By discovering the particular locations and sequences of the genes, Myriad was able to determine the typical sequences of the genes most often found in humans (i.e., the "wild-type" sequence for each), as well as mutations, which depart from the two wild-type sequences. (findlaw.com)
  • However, a region clearly related to exon 2 was identified in humans from its strong sequence homology to expressed exon 2 in other species. (mad-cow.org)
  • Human exon 2 shows no sign of rapid change [loss of selective pressure]: the sequence changes orders of magnitude more slowly than [unselected] pseudogenes. (mad-cow.org)
  • As part of the ongoing Candida albicans Genome Project, we have constructed a complete sequence-tagged site contig map of chromosome 7 , using a library of 3840 clones made in fosmids to promote the stability of repeated DNA. (genetics.org)
  • The repeated sequence CARE2/Rel2 is a subtelomeric repeat on chromosome 7 and possibly on the other chromosomes as well. (genetics.org)
  • The completed human sequence can now identify their locations. (edinformatics.com)
  • We demonstrate that a family of miRNAs sharing sequence identity with miRNA-16 (miR-16) negatively regulates cellular growth and cell cycle progression. (asm.org)
  • Chromatin- The complex of DNA and proteins that forms chromosomes. (nap.edu)
  • Within the chromosomes, chromatin proteins such as histones compact and organize DNA, which helps control its interactions with other proteins and thereby control which genes are transcribed. (newworldencyclopedia.org)
  • Studies exploiting species with large chromosomes reveal that chromatin is remodeled at the onset of meiosis before this intimate association. (pnas.org)
  • Thus, chromatin remodeling at the onset of meiosis enables the chromosomes to become competent to pair and recombine efficiently. (pnas.org)
  • Meiotic studies of species with large chromosomes reveal that chromosomes undergo extensive chromatin remodeling at the onset of meiosis ( 2 , 3 ). (pnas.org)
  • However, neither these studies nor any other investigations of meiosis reveal whether chromatin remodeling is essential for chromosome pairing and recombination. (pnas.org)
  • Recently, cell biological investigations have revealed that one of the effects of a major chromosome pairing locus ( Ph1 ) on chromosome 5B in wheat is to control chromatin remodeling at the onset of meiosis. (pnas.org)
  • At the onset of meiosis, homologues undergo synchronized chromatin remodeling in the presence of Ph1 , when the telomeres cluster as a bouquet and engage in intimate pairing ( 7 ). (pnas.org)
  • A cell's nucleus contains chromosomes, which are long, coiled packaged and organized chromatin (molecules of DNA). (avroarrow.org)
  • 6. In what stage does chromatin condense down to form a chromosome? (prezi.com)
  • The point the two sister chromatids join together is called centromere, and the ends of chromosomes are called telomere. (tripod.com)
  • 2. Nondisjunction is the failure of chromosome pairs or sister chromatids to separate properly during cell division. (majortests.com)
  • This ploidy reduction is achieved through a series of meiosis-specific events, including pairing, synapsis, crossover formation between homologues, suppression of sister centromere separation during the first (reductional) division and separation of sister chromatids during the second (equational) division. (nature.com)
  • It consists of two parallel axial elements (AEs) that bind sister chromatids together, and which become known as lateral elements (LEs) upon chromosome pairing. (nature.com)
  • Pairing initiated at the ends of bent zygotene chromosomes, which displayed a complex surface structure with discernible sister chromatids. (biologists.org)
  • In addition, we found that, although sister chromatids enter meiosis in very close proximity to one another, Pds5 acts to inhibit synapsis between them, a good thing because, then, meiotic conditions support the necessary pairing of homologs. (fsu.edu)
  • The Sept. 7, 2009, Journal of Cell Biology paper ('Pds5 is required for homologue pairing and inhibits synapsis of sister chromatids during yeast meiosis') was co-authored by Hui Jin, a research technician in biology at Florida State, and Vincent Guacci, a postdoctoral assistant in the Department of Embryology at the Carnegie Institution of Washington. (fsu.edu)
  • Chromosome 16 spans about 90 million base pairs (the building material of DNA) and represents just under 3% of the total DNA in cells . (wikipedia.org)
  • Pure trisomy 16 was found in cells from the placenta. (nih.gov)
  • Researchers learned to treat cells with a hypotonic solution to swell them, spreading apart the tangle of chromosomes. (the-scientist.com)
  • Chromosome 17 spans more than 83 million base pairs (the building material of DNA ) and represents between 2.5 and 3% of the total DNA in cells . (wikipedia.org)
  • Chromosome 16 spans about 89 million base pairs (the building blocks of DNA) and represents almost 3 percent of the total DNA in cells. (news-medical.net)
  • The findings could lead to answers to questions concerning the mechanisms leading to birth defects and chromosome instability in cancer cells. (news-medical.net)
  • Blastocyst- A preimplantation embryo in placental mammals (about 5 days after fertilization in humans) of 50-150 cells. (nap.edu)
  • Haploid ( n ) number is the number of chromosomes in germ cells (23 in humans), diploid (2 n ) number is the number of chromosomes in somatic cells (46 in humans). (tripod.com)
  • With the potential to give rise to all somatic cell types, human embryonic stem cells (hESC) have generated enormous interest as agents of cell replacement therapy. (pnas.org)
  • Human embryonic stem cells (hESCs) ( 1 ) can be maintained in culture in a self-renewing state and differentiate into all three embryonic germ layers ( 2 ). (pnas.org)
  • On a grainy, gray backdrop, he points out the dark gray ovals marking the boundaries of three human cells. (genome.gov)
  • Within cells, DNA is organized into structures called chromosomes . (newworldencyclopedia.org)
  • These chromosomes are duplicated before cells divide, in a process called DNA replication. (newworldencyclopedia.org)
  • Chromosomes are found in the nucleus of all body cells. (rarediseases.org)
  • By replacing select nucleo-tides-the ACGTs of life, which are scattered throughout the chromosomes-and changing, say, a T to an A or a C to a G in a process called recoding, Church envisions being able to make cells resistant to viruses. (wired.com)
  • Church and others who are working to synthesize human DNA have created their own effort within GP-Write-the Human Genome Project-Write, or HGP-Write-and its prospects for success have biologists abuzz over the potential for treating diseases and for creating bioengineered cells and possibly even organs. (wired.com)
  • Theoretically, scientists could one day manufacture genomes, human or otherwise, almost as easily as writing code on a computer, transforming digital DNA on someone's laptop into living cells of, say, Homo sapiens . (wired.com)
  • The modal chromosome number is 57 although cells with 58 chromosomes occurred with a comparable frequency. (atcc.org)
  • Seven marker chromosomes, der(9)t(1;9)(q21;p24), der(9)t(7;9)(p11;p22), t(10q14q), der(16)t(7;16)(q11.23;q22), a small ring (about 1/2 the size of a G chromosome) and two others, were common to all cells. (atcc.org)
  • Organisms have a way to make identical copies of their chromosomes and put them in newly formed cells - but how? (prezi.com)
  • 64 chromosomes in each of its body cells. (prezi.com)
  • How many chromosomes would be in the two cells after cell division takes place? (prezi.com)
  • Sometimes there may be three copies of chromosome 16, but not in all cells of the body (some have the normal two copies). (verywellhealth.com)
  • Over the last five years, scientists have built bacterial chromosomes and viral DNA, but this is the first report of an entire eukaryotic chromosome, the threadlike structure that carries genes in the nucleus of all plant and animal cells, built from scratch. (newswise.com)
  • We have shown that yeast cells carrying this synthetic chromosome are remarkably normal. (newswise.com)
  • Yeast chromosome III was selected for synthesis because it is among the smallest of the 16 yeast chromosomes and controls how yeast cells mate and undergo genetic change. (newswise.com)
  • Normal human cells undergo a finite number of cell divisions and ultimately enter a nondividing state called replicative senescence. (sciencemag.org)
  • To test this hypothesis, two telomerase-negative normal human cell types, retinal pigment epithelial cells and foreskin fibroblasts, were transfected with vectors encoding the human telomerase catalytic subunit. (sciencemag.org)
  • The ability to maintain normal human cells in a phenotypically youthful state could have important applications in research and medicine. (sciencemag.org)
  • Telomerase is active in germline cells and, in humans, telomeres in these cells are maintained at about 15 kilobase pairs (kbp). (sciencemag.org)
  • The telomere hypothesis of cellular aging ( 16 ) proposes that cells become senescent when progressive telomere shortening during each division produces a threshold telomere length. (sciencemag.org)
  • We recently demonstrated that telomerase activity can be reconstituted by transient expression of hTRT in normal human diploid cells, which express low levels of the template RNA component of telomerase (hTR) but do not express hTRT ( 18 ). (sciencemag.org)
  • Normal human reproductive cells have 23 chromosomes. (neowin.net)
  • Chromosome 8 spans about 145 million base pairs (the building material of DNA ) and represents between 4.5 and 5.0% of the total DNA in cells . (wikidoc.org)
  • To duplicate all this information stored in the chromosomes and to make it usefull cells use a process we call central dogma. (prezi.com)
  • The maturation of germ line stem cells into gametes requires that the diploid number of each chromosome be reduced by half. (creationwiki.org)
  • Treatment of normal cells with γ-radiation caused a dissociation of the γ- from the X-chromosome. (ubc.ca)
  • Huebner K, Druck T, Croce CM, Thiesen HJ (1991) Twenty seven non overlapping zinc finger cDNAs from human T cells map to nine different chromosomes with apparent clustering. (springer.com)
  • Biologically speaking, human life begins when a cell with 23 pairs of chromosomes capable of dividing into all the separate and distinct cells that make up a human organism is created. (atlassociety.org)
  • The biological basis for human life is contained in the genetic code present in human cells. (atlassociety.org)
  • Every time a blastocyst-a human embryo of about 100 cells before it implants in the uterine lining-is harvested for its stem cells, it is destroyed. (atlassociety.org)
  • Here we have explored the use of microarray profiling and functional screening to identify targets and biological processes triggered by the transfection of human cells with miRNAs. (asm.org)
  • miR-16-down-regulated transcripts were enriched with genes whose silencing by small interfering RNAs causes an accumulation of cells in G 0 /G 1 . (asm.org)
  • The American biologist and entrepreneur Craig Venter and his company Celera Genomics entered the frame in 1998 and with private funding set up a competing human genome sequencing project in direct competition with the public project. (theconversation.com)
  • A small amount of missing genetic material on the p arm of chromosome 16 causes a condition called 16p12.2 microdeletion, which is associated with physical and developmental abnormalities in some affected individuals. (medlineplus.gov)
  • Since then, the field of cytogenetics-linking chromosome abnormalities with syndromes-has proceeded more or less in fits and starts, with key developments in chromosome preparation explaining more and more once mysterious medical conditions. (the-scientist.com)
  • the most tolerable of an intolerable condition (trisomies are the most common chromosome abnormalities in spontaneous abortions). (tripod.com)
  • Some infants with ring chromosome 4 may have multiple characteristic features, such as a low birth weight, feeding difficulties, failure to grow and gain weight at the expected rate (failure to thrive), developmental delays, malformations of the skull and facial (craniofacial) region, heart defects, and/or other physical abnormalities. (rarediseases.org)
  • Definition A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. (prezi.com)
  • People normally have two copies of this chromosome. (wikipedia.org)
  • Two copies of chromosome 16, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
  • This deletion affects one of the two copies of chromosome 16 in each cell. (medlineplus.gov)
  • The DNA within the complete cellular set of chromosomes (23 pairs in humans) comprises two copies of the genome, one from each parent. (nap.edu)
  • Organisms exhibiting sexual reproduction carry two copies (homologues) of each chromosome. (pnas.org)
  • Changes in the structure or number of copies of a chromosome can cause problems with health and development. (verywellhealth.com)
  • In trisomy 16, instead of the normal pair, there are three copies of chromosome 16. (verywellhealth.com)
  • The scientists report that bread wheat contains an estimated 16 billion base pairs of DNA and six copies of seven chromosomes. (rssl.com)
  • They compare this to the human genome which is about five times smaller, with about three billion base pairs and two copies of 23 chromosomes. (rssl.com)
  • The following structural rearrangements were observed in 30 metaphases: an acentric fragment in 2/30 metaphases, a minute in 3/30, a chromosome break in 3/30, a chromatid break in 5/30, a ring chromosome in 1/30, and double minutes in 11/30 (1-5 copies). (atcc.org)
  • According to the Johns Hopkins scientists, bread wheat has one of the most complex genomes known to science, containing an estimated 16 billion base pairs of DNA and six copies of seven chromosomes. (yubanet.com)
  • By comparison, the human genome is about five times smaller, with about 3 billion base pairs and two copies of 23 chromosomes. (yubanet.com)
  • The chromosomes usually reside in the nucleus of a cell, except during cell division when the nuclear membrane breaks down and the chromosomes become condensed and can be visualized as discrete entities. (nap.edu)
  • Chromosomes are usually (in the interphase) dispersed throughout the nucleus but become compacted during metaphase of cell division. (tripod.com)
  • At the start of meiosis, each chromosome must recognize its homologue from among all of the chromosomes present in the nucleus. (pnas.org)
  • DNA is always present in the cell nucleus in the form of the 46 chromosomes. (physicsforums.com)
  • The outer ring represents the chromosomes displaying tick marks every 100 bases. (plos.org)
  • X-linked dominant disorders are caused by mutations in genes on the X chromosome. (prezi.com)
  • Exceptions to this finding are extremely rare cases in which boys with Klinefelter syndrome (47,XXY) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity RECEssIVE X-linked recessive conditions are also caused by mutations in genes on the X chromosome. (prezi.com)
  • Y linked Y-linked disorders are caused by mutations on the Y chromosome. (prezi.com)
  • DeLisi had come to the Department of Energy from the National Institutes of Health (NIH) and had the view that understanding human susceptibility to environmental energy emissions could benefit from knowledge of the genome and genetic mutations linked to such susceptibility. (theconversation.com)
  • Physical (kbp, Mbp) distance is the number of base pairs between two loci but genomic distance (cM) is the recombination fraction between two loci. (tripod.com)
  • We report a liveborn infant with trisomy 16 mosaicism first diagnosed by amniocentesis at 20 weeks gestation. (nih.gov)
  • Fibroblasts may be the tissue of choice for detection of low-level trisomy 16 mosaicism. (nih.gov)
  • There is also an increased risk of premature birth for infants with trisomy 16 mosaicism. (verywellhealth.com)
  • The yeast genome contains just over 12 million base pairs of DNA packaged within 16 chromosomes. (genome.gov)
  • The potato genome has 12 chromosomes with 840 million base pairs, about a quarter the size of the human genome. (ecnmag.com)
  • In 2000, Grimwood was a senior scientist at the Stanford Human Genome Center where she and her group were responsible for finishing and performing quality analysis on the 320 million base pairs of human chromosomes 5, 16 and 19, comprising more than 10 percent of the human genome. (hudsonalpha.org)
  • Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
  • It can be caused by a deletion of genetic material on chromosome 16 in a region known as 16q24.1. (medlineplus.gov)
  • the strands of human genetic material tend to bunch together maddeningly, overlapping and intertwining like so much spaghetti. (the-scientist.com)
  • Chromosomes are a packaged form of the genetic material DNA (deoxyribonucleic acid), and form during cell replication. (sciencephoto.com)
  • Research led by investigators in veterinary and human medicine has identified genetic pathways that exacerbate severity of canine compulsive disorder in Doberman pinschers, a discovery that could lead to better therapies for obsessive compulsive disorder in people. (news-medical.net)
  • In this form, eggs produced by females are diploid (they carry the full complement of chromosomes) and develop into females that are genetic clones of their mothers. (dave-cushman.net)
  • In most affected individuals, ring chromosome 4 appears to result from loss (deletion) of genetic material from both ends of the 4th chromosome and a joining of the ends to form a ring. (rarediseases.org)
  • The computer program allowed researchers to more easily pool results of their work on chromosome segments to create a full genetic map. (ecnmag.com)
  • Unfortunately, many genetic conditions are related to problems with the genes on chromosome 16. (verywellhealth.com)
  • Dr. Boeke and his team made more than 500 alterations to its genetic base, removing repeating sections of some 47,841 DNA base pairs, deemed unnecessary to chromosome reproduction and growth. (newswise.com)
  • It is known from mouse mutants and through human genetic analysis of families with non-obstructive azoospermia and premature ovarian failure, that alterations in these genes (that is, meiosis-specific cohesin subunit STAG3, and SYCE1) can result in meiotic arrest and human infertility 12 , 13 . (nature.com)
  • The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. (sciencemag.org)
  • Many of the genetic differences between humans and other primates are a result of large duplications and deletions ( 1 - 3 ). (sciencemag.org)
  • However, because of previous limitations in the power to determine DNA copy number at high resolution throughout the genome, the extent to which copy number polymorphisms (CNPs) contribute to human genetic diversity is unknown. (sciencemag.org)
  • In our previous studies of human cancer with the use of representational oligonucleotide microarray analysis (ROMA), we have detected many genomic amplifications and deletions in tumor genomes when analyzed in comparison to an unrelated normal genome ( 5 ), but some of these genetic differences could be due to germline CNPs. (sciencemag.org)
  • METTL26 is located on the short arm of chromosome 16 in humans, in the thirteenth open reading frame. (wikipedia.org)
  • It is known to have human paralogs, TVP23B and TVP23C, as well as orthologs in many different species, notably yeast, mice, and chickens. (wikipedia.org)
  • Although genome-wide investigation and characterization of Nat catalytic subunits (CS) and auxiliary subunits (AS) have been conducted in yeast and humans they remain unexplored in plants. (mdpi.com)
  • Based on phylogenetic analysis, poplar Nat CS were assigned to six subgroups, which corresponded well to the Nat CS types (CS of Nat A-F), being consistent with previous reports in humans and yeast. (mdpi.com)
  • Currently, six types of Nats (NatA-F) complexes conserved from yeast to humans are responsible for these Nα-acetylation events: each of the three major Nats, NatA, NatB and NatC contain a catalytic subunit, and one or two auxiliary subunits, whereas NatD, NatE and NatF are composed of only one catalytic subunit [ 8 , 9 ]. (mdpi.com)
  • However, another form of tormenting the genome-by switching human for yeast DNA packaging machinery-does lead to observable outcomes. (nsf.gov)
  • In this week's issue of Science online March 27, the team reports how, using computer-aided design, they built a fully functioning chromosome, which they call synIII, and successfully incorporated it into brewer's yeast, known scientifically as Saccharomyces cerevisiae. (newswise.com)
  • The seven-year effort to construct synIII tied together some 273, 871 base pairs of DNA, shorter than its native yeast counterpart, which has 316,667 base pairs. (newswise.com)
  • We have made over 50,000 changes to the DNA code in the chromosome and our yeast still live. (newswise.com)
  • It shows that our synthetic chromosome is hardy, and it endows the yeast with new properties. (newswise.com)
  • Now, we are investigating the other factors that interact with Pds5 during meiosis to regulate chromosome segregation and homolog synapsis,' he said. (fsu.edu)
  • Strategies to identify genes for complex disorders: a focus on bipolar disorder and chromosome 16p. (rush.edu)
  • More research needs to be done on all of the disorders of chromosome 16 to better understand their full implications for the individuals affected by them. (verywellhealth.com)
  • Telomeres have important functions such as preventing end-to-end fusion of chromosomes, assisting with chromosome pairing in meiosis, and ensuring complete replication of chromosome extremities. (tripod.com)
  • During meiosis, two successive rounds of chromosome segregation occur following a single round of replication, resulting in the formation of haploid gametes from diploid progenitors 1 . (nature.com)
  • In particular, studies indicate that individuals with a 16p12.2 microdeletion who have neurological or behavioral problems often have an additional, larger deletion or duplication affecting another chromosome. (medlineplus.gov)
  • Due to the locations of these three genes, and their identities to each other, it is probable that ancestral TVP23 underwent duplication and translocation, giving rise to TVP23A on chromosome 16 and TVP23B/C on chromosome 17, which then underwent a second duplication to form TVP23B and TVP23C. (wikipedia.org)
  • We document that the expansion of Nat CS genes occurs as duplicated blocks distributed across 10 of the 19 poplar chromosomes, likely only as a result of segmental duplication events. (mdpi.com)
  • Overexpression of each human transcript in zebrafish embryos identified KCTD13 as the sole message capable of inducing the microcephaly phenotype associated with the 16p11.2 duplication 2, 3, 4, 5 , whereas suppression of the same locus yielded the macrocephalic phenotype associated with the 16p11.2 deletion 5, 6 , capturing the mirror phenotypes of humans. (zfin.org)
  • In Muntiacus muntjac (a small SE Asian deer), the number of chromosomes differs between species: the Chinese subspecies has a haploid number of 23 (like humans) but the Assam subspecies has only 3 pairs of chromosomes. (tripod.com)
  • There are hundreds of different species of viruses that infect humans. (clarkesworldmagazine.com)
  • Human species has in total 46 chromosomes, which are grouped into 23 pairs, each pair consisting of one chromosome from our mother and one from our father. (prezi.com)
  • Alternative splicing, resulting in exon 123 or exon 13 splice products, has been demonstrated for hamster, mouse, rat, cow, and sheep -- in all species studied except human, which so far only shows exon 13 splicing. (mad-cow.org)
  • http://www.ncbi.nlm.nih.gov/pubmed/9415132?tool=bestpractice.com Normal human haemoglobin consists of a tetramer of 2 pairs of globin polypeptide chains, 1 pair of alpha-like chains and 1 pair of non-alpha chains, each of which contains a haem group. (bmj.com)
  • Now, tiny inversions (reversals in the banding pattern), duplications, deficiencies, and translocations (chromosomes that swap parts) could be noted by trained eyes. (the-scientist.com)
  • There are many other combinations of deletions or duplications of parts of chromosome 16. (verywellhealth.com)
  • A print is developed, and the individual chromosomes are cut out and arranged in pairs by size order into a chart. (the-scientist.com)
  • The staining pattern of each chromosome is unique and helps to identify individual chromosomes (along with the size). (tripod.com)
  • Aubry M, Marineau C, Zhang FR, Zahed L, Figlewicz D, Delattre O, Thomas G, Jong P de, Julien JP, Rouleau GA (1992) Cloning of six new genes with zinc fingers motifs mapping to short and long arms of human acrocentric chromosomes 22 (p and q11.2). (springer.com)
  • This naming is due to the capacity of chromosomes to take up histological stains more effectively than other cell structures. (tripod.com)
  • Remarkably, the 3D structures of synthetic and native chromosomes are very similar. (nsf.gov)
  • Chromosomes are the structures that hold your genes, which provide instructions that guide the body's development and functioning. (verywellhealth.com)
  • All DNA is stored in each cell in structures we call chromosomes. (prezi.com)
  • Chromosome 16 likely contains 800 to 900 genes that provide instructions for making proteins. (medlineplus.gov)
  • These genes produce proteins which in turn carry out a large variety of often complex functions in the human body. (slideshare.net)
  • The human genome contains roughly 23,000 pairs of proteins that code or produce proteins. (slideshare.net)
  • Bray P, Lichter P, Thiesen HJ, Ward D, Dawid IB (1991) Characterization and mapping of human genes encoding zinc finger proteins. (springer.com)
  • Humans though have on average three times as many kinds of proteins as the fly or worm because of mRNA transcript "alternative splicing" and chemical modifications to the proteins. (edinformatics.com)
  • In C.elegans (a nematode), the sexes differ in their chromosome numbers: the male is haploid for the sex chromosome (X,O) and the female is diploid (X,X) resulting in a total of 11 diploid chromosomes in males and 12 in females. (tripod.com)
  • This reduction is accomplished through a process called meiosis , where one chromosome in a diploid pair is sent to each daughter gamete. (creationwiki.org)
  • The haploid human genome occupies a total of just over 3 billion DNA base pairs that means 6 billion base pairs per diploid cell. (edinformatics.com)
  • But still, the chromosome pairs could not be distinguished very well, and researchers had to rely on such large-scale and subjective clues as chromosome size and position of the J centromere, a characteristically located constriction in each chromosome. (the-scientist.com)
  • Each chromosome consists of two identical, parallel strands (chromatids, left and right), joined at an area called a centromere (centre). (sciencephoto.com)
  • FISH probes revealed that in all cases, save the Hulk, the γ-chromosome was associated with the centromere of the X-chromosome. (ubc.ca)
  • Mice lacking SIX6OS1 are defective in chromosome synapsis at meiotic prophase I, which provokes an arrest at the pachytene-like stage and results in infertility. (nature.com)
  • Light optical serial sections of premeiotic and meiotic nuclei obtained by confocal laser scanning microscopy revealed that premeiotic chromosomes 3 are separate from each other and occupy variably shaped territories, which are sectored in distinct 3 p- and q-arm domains. (biologists.org)
  • Three-dimensional reconstructions of the painted chromosome domains by a Voronoi tessellation approach showed that mean chromosome volumes did not differ significantly among the premeiotic and meiotic stages investigated. (biologists.org)
  • In the meiotic malfunction that followed, the identical sister chromosomes began to synapse instead. (fsu.edu)
  • Yu said the landmark study has significantly extended previous observations of the role of Pds5 in the formation of meiotic chromosome structure. (fsu.edu)
  • The designation for each member of the seventeenth largest human autosomal chromosome pair. (semanticscholar.org)
  • 22 of these are autosomal chromosome pairs, while the remaining pair is sex-determining. (edinformatics.com)
  • Nine KOX zinc finger genes were localized on four human chromosomes by in situ hybridization of cDNA probes to metaphase chromosomes. (springer.com)
  • On entry into meiosis just before chromosome pairing, the subtelomeric heterochromatin knobs visualized on Lilium, rye, and maize chromosomes "disappear" as a result of these conformational changes ( 3 ⇓ ⇓ - 6 ). (pnas.org)
  • The Ph1 locus ensures that only true homologues pair at meiosis from among the six related chromosomes ( 11 ). (pnas.org)
  • During normal meiosis, the process of division that halves the number of chromosomes per cell, my colleagues and I discovered that Pds5 regulates the pairing and synapsis (joining together) of 'mom and dad' homologs. (fsu.edu)
  • A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. (gu.se)
  • This suggests an interchromosomal translocation between chromosomes 2 and 16 resulting in a loss of the genomic material between the translocation breakpoints. (plos.org)
  • the locus on chromosome 7 is at JAZF1, a transcriptional repressor that is fused by chromosome translocation to SUZ12 in endometrial cancer. (elsevier.com)
  • These features prompted us to select for HBP‐encoding human cDNAs by RNA‐mediated three‐hybrid selection in Saccharomyces cerevesiae . (embopress.org)
  • There are two Xs in females but only a single X in males, whereas the autosomal chromosomes are present in duplicate in both sexes. (tripod.com)
  • The presence of a single autosome (a monosomy) is invariably an embryonic lethal event but monosomy for the X chromosome is viable because of dosage compensation, which assures equality of expression of most X-linked genes in females and males. (tripod.com)
  • Females have two similar chromosomes called X chromosomes (designated as XX), whereas males have an X chromosome and a smaller Y chromosome (XY). (dave-cushman.net)
  • In insects, however, the males generally have just one sex chromosome instead of a pair, this condition is referred to as XO. (dave-cushman.net)
  • The only people who have a Y chromosome are males. (artvoice.com)
  • Pairs of human chromosomes are numbered from 1 through 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females. (rarediseases.org)
  • At the same time, due to their unequal pattern of inheritance in males and females, the sex chromosomes are subject to unbalanced sex-specific selection, which contributes to a nonrandom distribution of sex-biased genes compared to the remainder of the genome. (genetics.org)
  • The Gallus gallus Z chromosome provides a useful opportunity to study the importance and trade-offs between sex-specific selection and dosage compensation in shaping the evolution of the genome as it shows incomplete dosage compensation and is also present twice as often in males than females, and therefore predicted to be enriched for male-biased genes. (genetics.org)
  • We have 22 pairs of chromosomes called autosomes, they are equal between males and females and 2 sex chromosomes (X and Y), so in total there are 46 chromosomes. (physicsforums.com)
  • Because males inherit a Y chromosome from their fathers, every son of an affected father will be affected. (prezi.com)
  • Ultraviolet radiation inflicts fairly minor changes to DNA, often affecting just one or two of the approximately three billion base pairs in the human genome. (genome.gov)
  • The human genome comprises 3.2 billion base pairs spread across 24 distinct chromosomes. (clarkesworldmagazine.com)
  • Human endogenous retroviruses, or "fossil viruses," make up about 1% of our 3.2 billion base pairs. (clarkesworldmagazine.com)
  • While welcomed by some in the science community, there was considerable debate following this recommendation about whether the available technology for sequencing was either fast enough, or cheap enough for the ambitious goals of sequencing the three billion base pairs that make up the human genome. (theconversation.com)
  • The newly assembled bread wheat genome, which cost $300,000 for the sequencing alone, took a year for the Johns Hopkins researchers to assemble 1.5 trillion bases of raw data into a final assembly of 15.34 billion base pairs. (yubanet.com)
  • Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
  • It is only during cell division that the chromosomes condense and become detectable, like a long piece of wire suddenly coiling into a spring. (the-scientist.com)
  • A derivative of the autumn crocus plant, called colchicine, was found to arrest cell division when the chromosomes are at their most striking. (the-scientist.com)
  • A cell with all of the chromosomes untangled is located under the light microscope, and a photograph is taken. (the-scientist.com)
  • Aneuploidy- The presence of an abnormal number of chromosomes in a cell. (nap.edu)
  • For example, their tendency to gain chromosomes 12, 17, and X likens hESC to various germ cell tumors ( 3 , 4 ). (pnas.org)
  • How many pairs of chromosomes are present in a human cell? (brainscape.com)
  • This is a hypotriploid human cell line. (atcc.org)
  • Intermediate filament and cross-linked envelope expression in human lung tumor cell lines. (atcc.org)
  • 3 How does the chromosome number change between the parent (original) and daughter (new) cell? (prezi.com)
  • MITOSIS , how many chromosomes will a daughter (newly made) cell have? (prezi.com)
  • While everyone should have 46 chromosomes in every cell of the body, chromosomes can be missing or duplicated, resulting in missing or extra genes. (verywellhealth.com)
  • This is the deletion of a segment of the short arm of the chromosome of about 25 genes, affecting one of the pair of chromosome 16 in each cell. (verywellhealth.com)
  • To produce a genetically balanced gamete (sperm and egg), the cell must contend with two sets of chromosome pairs, homologs and sisters,' he said. (fsu.edu)
  • sisters are exactly identical pairs that are produced like photocopies as part of normal cell division. (fsu.edu)
  • Embryonic stem cell research destroys human life. (atlassociety.org)
  • The question then arises, is human exon 2 cryptic [present but spliced out of mRNA] or is it only expressed in certain rare cell types or tissues or stages of development or at undetectable levels? (mad-cow.org)
  • More likely, human exon 2 will turn out like hamster: preferentially expressed in some cell types under certain conditons and possibly at low -- but important -- levels in other cell types. (mad-cow.org)
  • This is a hyper-triploid human cell line with a modal chromosome number of 75. (atcc.org)
  • Thus, miR-16 coordinately regulates targets that may act in concert to control cell cycle progression. (asm.org)
  • Human life begins at fertilization, the process during which a male gamete or sperm (spermatozoon) unites with a female gamete or oocyte (ovum) to form a single cell called a zygote. (liveaction.org)
  • 16p11.2 deletion syndrome is caused by a deletion of about 600,000 base pairs, also written as 600 kilobases (kb), at position 11.2 on the short (p) arm of chromosome 16. (medlineplus.gov)
  • The promoter for TVP23A is GXP_91266, spanning 1403 base pairs located on the negative strand of chromosome 16. (wikipedia.org)
  • The longest cDNA transcript (transcript variant 1) contains 854 base pairs. (wikipedia.org)
  • Humans have 37 genes in their mitochondria, in a total of only 16 569 base pair s. (everything2.com)
  • Between the breakpoints on each chromosome (chr2:56792000-56953300 and chr16:8826200-8826700), base coverage drops to about half of what it is on the other side of the event, from two to one copy. (plos.org)
  • How many base pairs are contained within each nucleosome? (brainscape.com)
  • A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. (mpg.de)
  • TAAAA)(n) is five base pairs that repeats a variable number of times on the opposite DNA strand. (wikipedia.org)
  • Other sets of base pairs were added or altered to enable researchers to tag DNA as synthetic or native, and to delete or move genes on synIII. (newswise.com)
  • The students pieced together short snippets of the synthetic DNA into stretches of 750 to 1,000 base pairs or more, an effort led by Srinivasan Chandrasegaran, PhD, a professor at Johns Hopkins. (newswise.com)
  • DNA comprises four letter-designated base macromolecules strung together in matching sets, or base pairs, in a pattern of repeating letters. (newswise.com)
  • When stacked, these base pairs form a helical structure of DNA resembling a twisted ladder. (newswise.com)
  • Here a nice image which depicts the two strands of the chromosome (sugar phosphate backbone) and the base pairing of the ACGT between the strands. (physicsforums.com)
  • The nucleotides on the DNA strand pair naturally with their counterparts, with the exception that RNA uses the nucleotide base uracil (U) instead of thymine (T). Transcription results in a single strand RNA molecule, known as pre-RNA, whose nucleotides form an inverse image of the DNA strand from which it was created. (harvard.edu)
  • The 1.2% chimp-human distinction, for example, involves a measurement of only substitutions in the base building blocks of those genes that chimpanzees and humans share. (wikiversity.org)
  • Your students use primers for a 300 base pair Alu insertion in chromosome 16 (PV92) to determine their own genotype! (philipharris.co.uk)
  • Scientists have identified about 1.4 million locations where single-base DNA differences (SNPs) occur in humans. (edinformatics.com)
  • miRNA target recognition involves complementary base pairing of the target with the 5′ end (positions 1 to 8) of the miRNA guide strand seed region. (asm.org)
  • As its name implies, high throughput sequencing generates massive amounts of DNA base pairs very quickly and cheaply, although the fragments are very short-just 150 base pairs long for this project. (yubanet.com)
  • The technology enables scientists to read up to 20,000 base pairs at a time by measuring changes in the flow of the current as a strand of DNA passes through the pore. (yubanet.com)
  • At least 45 distinct derivative chromosomes were detected in most metaphases, including two large metacentric markers which are approximately 1.5 times longer than a normal A group chromosome. (atcc.org)
  • This results in a brand new set of mixture of paternal and maternal origin chromosomes each one of which may have undergone rearrangement. (tripod.com)
  • Every chromosome pair had a least one rearrangement. (atcc.org)
  • Genes on chromosome 16 are among the estimated 20,000 to 25,000 total genes in the human genome. (news-medical.net)
  • The group is still debating how far to go in synthesizing human DNA, but Church-standing in his office in a rumpled sport coat, behind the slender lectern he uses as a desk-says his lab has already made its own decision on the matter: "We want to synthesize modified versions of all the genes in the human genome in the next few years. (wired.com)
  • What Genes in the Human Genome cause Celiac Disease? (edinformatics.com)
  • Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases. (rush.edu)
  • Another pattern is as follows: Chromosomes are packaged into transcriptionally silent heterochromatin and transcriptionally active euchromatin . (tripod.com)
  • Acute myeloid leukemia with t(16;21)(q24;q22) and eosinophilia: case report and review of the literature. (biomedsearch.com)
  • As with the deletion syndrome, they can pass the abnormal chromosome to their children who may show more severe effects. (verywellhealth.com)
  • Chromosomes, Human, Pair 16" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (rush.edu)
  • Consistent with this observation, the subtelomeric regions have been shown to be important for pairing and recombination in wheat ( 10 ). (pnas.org)
  • The synaptonemal complex is a 'zipper'-like protein assembly that synapses homologue pairs together and provides the structural framework for processing recombination sites into crossovers. (nature.com)
  • In accordance with its role as a modifier of the human recombination rate, SIX6OS1 is essential for the appropriate processing of intermediate recombination nodules before crossover formation. (nature.com)
  • Because females inherit an X chromosome from their fathers, female offspring of affected fathers are never affected. (prezi.com)
  • His plan is to design and build long chains of human DNA, not solely by cutting and pasting small fixes-a now-routine practice, thanks to recent technologies like Crispr that let scientists edit DNA cheaply and easily-but by rewriting critical stretches of chromosomes that can then be stitched together with a naturally occurring genome. (wired.com)
  • The draft of the potato genome released last week represents the work of more than 50 scientists from 16 institutions and will provide a starting point for other researchers to develop sturdier, more nutritious potatoes. (ecnmag.com)
  • At present, in the UK and in many other jurisdictions, the only permitted clinical applications of human genome editing are somatic-they involve changes to the genome that will not be inherited by the next generation. (deepdyve.com)
  • In contrast, telomerase is not expressed in most human somatic tissues ( 13 , 14 ), and telomere length is significantly shorter ( 15 ). (sciencemag.org)
  • Although miRNAs may silence their targets via translational blocking ( 16 ), they also regulate target transcript levels. (asm.org)