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.

Insertion of excised IgH switch sequences causes overexpression of cyclin D1 in a myeloma tumor cell. (1/1049)

Oncogenes are often dysregulated in B cell tumors as a result of a reciprocal translocation involving an immunoglobulin locus. The translocations are caused by errors in two developmentally regulated DNA recombination processes: V(D)J and IgH switch recombination. Both processes share the property of joining discontinuous sequences from one chromosome and releasing intervening sequences as circles that are lost from progeny cells. Here we show that these intervening sequences may instead insert in the genome and that during productive IgH mu-epsilon switch recombination in U266 myeloma tumor cells, a portion of the excised IgH switch intervening sequences containing the 3' alpha-1 enhancer has inserted on chromosome 11q13, resulting in overexpression of the adjacent cyclin D1 oncogene.  (+info)

Multipoint oligogenic analysis of age-at-onset data with applications to Alzheimer disease pedigrees. (2/1049)

It is usually difficult to localize genes that cause diseases with late ages at onset. These diseases frequently exhibit complex modes of inheritance, and only recent generations are available to be genotyped and phenotyped. In this situation, multipoint analysis using traditional exact linkage analysis methods, with many markers and full pedigree information, is a computationally intractable problem. Fortunately, Monte Carlo Markov chain sampling provides a tool to address this issue. By treating age at onset as a right-censored quantitative trait, we expand the methods used by Heath (1997) and illustrate them using an Alzheimer disease (AD) data set. This approach estimates the number, sizes, allele frequencies, and positions of quantitative trait loci (QTLs). In this simultaneous multipoint linkage and segregation analysis method, the QTLs are assumed to be diallelic and to interact additively. In the AD data set, we were able to localize correctly, quickly, and accurately two known genes, despite the existence of substantial genetic heterogeneity, thus demonstrating the great promise of these methods for the dissection of late-onset oligogenic diseases.  (+info)

Abnormalities at 14q32.1 in T cell malignancies involve two oncogenes. (3/1049)

The TCL1 oncogene on human chromosome 14q32.1 is involved in the development of T cell leukemia in humans. Its expression in these leukemias is activated by chromosomal translocations and inversions at 14q32.1. Here we report the isolation and characterization of a new member of the TCL1 gene family, TCL1b, located approximately 16 kb centromeric of TCL1. The 1.2-kb TCL1b cDNA encodes a 14-kDa protein of 128 aa and shows 60% similarity to Tcl1. Expression profiles of TCL1 and TCL1b genes are very similar: both genes are expressed at very low levels in normal bone marrow and peripheral lymphocytes but are activated in T cell leukemia by rearrangements of the 14q32.1 region. Thus, translocations and inversions at 14q32. 1 in T cell malignancies involve two oncogenes.  (+info)

Detection of t(14;18) carrying cells in bone marrow and peripheral blood from patients affected by non-lymphoid diseases. (4/1049)

AIMS/BACKGROUND: To assess the presence of bcl-2/JH rearrangements in bone marrow and peripheral blood lymphocytes from patients affected by diseases other than malignant lymphomas. The t(14;18) (q32;q21) translocation, which juxtaposes the bcl-2 oncogene on chromosome 18 and the JH segment of the immunoglobulin heavy chain (IgH) genes on chromosome 14, is found frequently in follicular lymphomas. METHODS: A sensitive semi-nested polymerase chain reaction (PCR) was used to detect t(14;18) translocation in bone marrow aspirates and peripheral blood lymphocytes from 48 patients. In 137 additional individuals peripheral blood lymphocytes only were tested. RESULTS: Cells carrying bcl-2/JH rearrangements were detected in about a quarter of the bone marrow samples and half of the peripheral blood lymphocyte samples. In seven patients, t(14;18) positive cells were found in both the bone marrow and peripheral blood lymphocyte samples. The size of the PCR products and bcl-2/JH DNA sequence analysis showed that the same t(14;18) carrying clone was present in the bone marrow and the corresponding peripheral blood lymphocyte samples in three of these seven patients. Some patients had more than one bcl-2/JH rearrangement. There was no significant correlation between age and the translocation incidence. Cells carrying the t(14;18) translocation were present in peripheral blood lymphocyte samples with a similar incidence--between 47% and 52% in all age groups from 20 to 79 years. Patients older than 80 years had a lower (37%) but not significantly different incidence. CONCLUSIONS: These findings suggest that patients affected by non-lymphoid diseases may have several t(14;18) carrying cells and some of them undergo a clonal expansion. Whether individuals with t(14;18) positive cells are at a higher risk of lymphoid malignancies remains unanswered and further epidemiological studies are required.  (+info)

De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings. (5/1049)

A 3 year old boy with a de novo deletion (14)(q11.2q13) of paternal origin encompassing the region from D14S264 to D14S70 is described. The patient presented with severe psychomotor retardation, bilateral cleft lip/palate, bilateral colobomas of the optic nerves and retinas, agenesis of the corpus callosum, pes calcaneovarus, reduced oesophageal peristalsis, and swallowing difficulties. This is the first reported case of PAX9 hemizygosity in humans. Haploinsufficiency of the PAX9 gene might be expected to cause some of the developmental defects and the dysphagia. Another haploinsufficiency candidate gene, the bZIP transcription factor gene NRL, which is specifically expressed in neuronal cells and the eye during embryogenesis, was excluded from the deletion interval.  (+info)

Rec8p, a meiotic recombination and sister chromatid cohesion phosphoprotein of the Rad21p family conserved from fission yeast to humans. (6/1049)

Our work and that of others defined mitosis-specific (Rad21 subfamily) and meiosis-specific (Rec8 subfamily) proteins involved in sister chromatid cohesion in several eukaryotes, including humans. Mutation of the fission yeast Schizosaccharomyces pombe rec8 gene was previously shown to confer a number of meiotic phenotypes, including strong reduction of recombination frequencies in the central region of chromosome III, absence of linear element polymerization, reduced pairing of homologous chromosomes, reduced sister chromatid cohesion, aberrant chromosome segregation, defects in spore formation, and reduced spore viability. Here we extend the description of recombination reduction to the central regions of chromosomes I and II. We show at the protein level that expression of rec8 is meiosis specific and that Rec8p localizes to approximately 100 foci per prophase nucleus. Rec8p was present in an unphosphorylated form early in meiotic prophase but was phosphorylated prior to meiosis I, as demonstrated by analysis of the mei4 mutant blocked before meiosis I. Evidence for the persistence of Rec8p beyond meiosis I was obtained by analysis of the mutant mes1 blocked before meiosis II. A human gene, which we designate hrec8, showed significant primary sequence similarity to rec8 and was mapped to chromosome 14. High mRNA expression of mouse and human rec8 genes was found only in germ line cells, specifically in testes and, interestingly, in spermatids. hrec8 was also expressed at a low level in the thymus. Sequence similarity and testis-specific expression indicate evolutionarily conserved functions of Rec8p in meiosis. Possible roles of Rec8p in the integration of different meiotic events are discussed.  (+info)

Correlation of bcl-2 rearrangement with clinical characteristics and outcome in indolent follicular lymphoma. (7/1049)

The t(14;18) translocation, which involves the bcl-2 oncogene, occurs in follicular lymphomas (FL) at two common sites: the major breakpoint region (MBR) and the minor cluster region (mcr). The biological and clinical significance of these breakpoints is unknown. The bcl-2 breakpoint site was determined in 247 previously untreated patients (49% men; median age 52 years) with indolent FL (155 grade I, 83 grade II, and 8 grade III) to correlate it with pretreatment characteristics, response, and outcome. The bcl-2 breakpoint site was determined by a polymerase chain reaction method of peripheral blood (all cases), bone marrows (149 cases), and fresh lymph node biopsy specimens (68 cases). The breakpoint site occurred at MBR in 175 cases (71%) and at mcr in 27 (11%). In 45 cases (18%), no breakpoint was detected (germline). No significant relationship was found between the rearrangements and the expression of BLC-2 and BAX proteins. Patients' germline for MBR and mcr tended to present more frequently with stage IV disease and higher beta2-microglobulin (beta2M) levels, whereas mcr-rearranged patients presented more frequently with early stage and normal beta2M. The complete response rate of germline patients was significantly lower than that of MBR and mcr patients. An estimated 3-year failure-free survival (FFS) for mcr, MBR, and germline cases was 95%, 76%, and 57%, respectively (P <.001). The bcl-2 breakpoint site was independent of serum beta2M and lactate dehydrogenase in its correlation with FFS. In conclusion, the bcl-2 rearrangement site is an important prognostic factor in indolent FL, useful to identify patients who may require different treatment.  (+info)

Structural organization of the human Elk1 gene and its processed pseudogene Elk2. (8/1049)

In the ets gene family of transcription factors, ELK1 belongs to the subfamily of Ternary Complex Factors (TCFs) which bind to the Serum Response Element (SRE) in conjunction with a dimer of Serum Response Factors (SRFs). The primary structure of the human Elk1 gene was determined by genomic cloning. The gene structure of Elk1 spans 15.2 kb and consists of seven exons and six introns. The coding sequence resides on exons 3, 4, 5, 6 and 7. Sequencing of cDNA clones isolated from human hippocampus library revealed that the second exon was often skipped by an alternative splicing event. All introns commenced with nucleotides GT at the 5' boundary and ended with nucleotides AG at the 3' boundary, in agreement with the proposed consensus sequence for intron spliced donor and acceptance sites. Sequence inspection of the 5'-flanking region revealed the absence of a 'TATA' box and the presence of putative cis-acting regulatory elements such as Sp1, GATA-1, CCAAT, and c-Myb. Moreover, the sequence analysis of Elk2 locus on 14q32.3 confirmed that Elk2 gene corresponds to a processed pseudogene of Elk1 which has been reported between alpha 1 gene (IGHA1) and pseudo gamma gene (IGHGP) of immunoglobulin heavy chain. Furthermore, the results of Southern analysis using DNAs from human-mouse hybrid cell lines carrying a part of 14q32 region revealed that there is another locus hybridizing to Elk1 cDNA on 14q32.2 --> qter region in addition to Elk2 locus between IGHA1 and IGHGP loci.  (+info)

The human body is surrounded by a micro‐climate which results from its convective release of heat. In this study, the air temperature and flow velocity of this micro‐climate were measured in a climate chamber at various room temperatures, using a thermal manikin simulating the heat release of the human being. Different techniques (Particle Streak Tracking, thermography, anemometry, and thermistors) were used for measurement and visualization. The manikin surface temperature was adjusted to the particular indoor climate based on simulations with a thermoregulation model (UCBerkeley Thermal Comfort Model). We found that generally, the micro‐climate is thinner at the lower part of the torso, but expands going up. At the head, there is a relatively thick thermal layer, which results in an ascending plume above the head. However, the micro‐climate shape strongly depends not only on the body segment, but also on boundary conditions: the higher the temperature difference between the surface ...
Except as otherwise noted, the content of this page is licensed under the Creative Commons Attribution 4.0 License, and code samples are licensed under the Apache 2.0 License. For details, see the Google Developers Site Policies. Java is a registered trademark of Oracle and/or its affiliates.. Last updated 2021-04-22 UTC.. ...
TY - JOUR. T1 - Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. AU - Kagami, Masayo. AU - Sekita, Yoichi. AU - Nishimura, Gen. AU - Irie, Masahito. AU - Kato, Fumiko. AU - Okada, Michiyo. AU - Yamamori, Shunji. AU - Kishimoto, Hiroshi. AU - Nakayama, Masahiro. AU - Tanaka, Yukichi. AU - Matsuoka, Kentarou. AU - Takahashi, Tsutomu. AU - Noguchi, Mika. AU - Tanaka, Yoko. AU - Masumoto, Kouji. AU - Utsunomiya, Takeshi. AU - Kouzan, Hiroko. AU - Komatsu, Yumiko. AU - Ohashi, Hirofumi. AU - Kurosawa, Kenji. AU - Kosaki, Kenjiro. AU - Ferguson-Smith, Anne C.. AU - Ishino, Fumitoshi. AU - Ogata, Tsutomu. PY - 2008/2. Y1 - 2008/2. N2 - Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed genes (PEGs) such as DLK1 and RTL1 and maternally expressed genes (MEGs) such as MEG3 (also known as GTL2), RTL1as (RTL1 antisense) and MEG8 (refs. 1,2), together with the intergenic ...
浜松市城西浄化センターにおけるMBRの初期運転について (第46回下水道研究発表会講演集) (2009 ...
Definition of robertsonian translocation in the Legal Dictionary - by Free online English dictionary and encyclopedia. What is robertsonian translocation? Meaning of robertsonian translocation as a legal term. What does robertsonian translocation mean in law?
Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal ...
A Robertsonian translocation is a chromosomal abnormality that generally doesnt cause health problems. However, it can affect pregnancy, especially when it results in a fetus with a genetic condition that is incompatible with life. Well tell you what you can do if you have or suspect you have this translocation.
It is clear that, although we have learned much about the biology of MM, many questions remain. All of the available data suggest that IgH translocations are present in a majority (∼50-60%) of tumors, yet are not sufficient to exert the full malignant potential of the clone. Although early dysregulation of cyclin D1, D2, or D3 may represent a unifying event, it seems likely that two distinct pathways exist in the pathogenesis of MM. One pathway appears to involve an early IgH translocation that usually includes one of the four recurrent partners (11q13, 4p16, 16q23, 6p21), and mostly is associated with a nonhyperdiploid chromosome content. The second pathway infrequently, if ever, involves an early IgH translocation but mostly is associated with a hyperdiploid chromosome content, perhaps a reflection of intrinsic genetic instability, although we have virtually no understanding of this pathway. The timing and nature of additional genetic events that are involved in early pathogenesis is ...
It is clear that, although we have learned much about the biology of MM, many questions remain. All of the available data suggest that IgH translocations are present in a majority (∼50-60%) of tumors, yet are not sufficient to exert the full malignant potential of the clone. Although early dysregulation of cyclin D1, D2, or D3 may represent a unifying event, it seems likely that two distinct pathways exist in the pathogenesis of MM. One pathway appears to involve an early IgH translocation that usually includes one of the four recurrent partners (11q13, 4p16, 16q23, 6p21), and mostly is associated with a nonhyperdiploid chromosome content. The second pathway infrequently, if ever, involves an early IgH translocation but mostly is associated with a hyperdiploid chromosome content, perhaps a reflection of intrinsic genetic instability, although we have virtually no understanding of this pathway. The timing and nature of additional genetic events that are involved in early pathogenesis is ...
I am a 42-year-old woman struggling with infertility from a Robertsonian Translocation. My husband is 36 and we have been trying to get pregnant for two years
I am a 42-year-old woman struggling with infertility from a Robertsonian Translocation. My husband is 36 and we have been trying to get pregnant for two years
فناوری بیوراکتور غشایی (MBR) می‌تواند به عنوان فرآیندی یک مرحله‌ای برای تصفیه انواع فاضلابها به کار گرفته شود و پسابی با کیفیت نسبتاً خوب و مناسب، برای استفاده مجدد تولید نماید. در این تحقیق قابلیت کاربرد فرآیند MBR در فاضلابهای نفتی مورد بررسی قرار گرفته است. غشای مورد استفاده یک غشای میکروفیلتراسیون لوله‌ای بود که برای جداسازی و برگشت دادن بیوماس، مواد جامد سوسپانسه و مولکول‌های سنگین خروجی از بیوراکتور به کار رفت. دمای راکتور در محدوده 36-34 درجه سانتی‌گراد حفظ شد. در محدوده غلظت COD 500-2000 میلی گرم بر لیتر، راندمان حذف بین 93تا 97 درصد حاصل گردید و غلظت MLSS نیز
Enables deprecated DOS compatible mode, in this mode library checks for cylinders boundary, cases about CHS addressing and another obscure things.. ...
Hi there, I am researching chromosome 2 fusion theory. The theory that chromosome 2 and 3 was fused by a Robertsonian Translocation in two human-chimp common ancestors which mated giving us our chromosome 2 and 46 chromosomes instead of the other higher primates 48.. I was attempting to understand what the odds of this occurring were, to which end I want to know the odds that a chimp baby will be born with this mutation. I understand that 1 in 1000 human babies are born with a Robertsonian Translocation, is it the same for chimps?. ...
TY - JOUR. T1 - Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13. AU - Stetten, G.. AU - Tuck-Muller, C. M.. AU - Blakemore, Karin. AU - Wong, C.. AU - Kazazian, Haig. AU - Antonarakis, S. E.. PY - 1990. Y1 - 1990. UR - UR - M3 - Article. C2 - 2077349. AN - SCOPUS:0025670533. VL - 7. SP - 479. EP - 484. JO - Molecular Biology and Medicine. JF - Molecular Biology and Medicine. SN - 0735-1313. IS - 6. ER - ...
Background: Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. In carriers of such translocatio...
Chromosome translocations in peripheral blood lymphocytes of normal, healthy humans increase with age, but the effects of gender, race, and cigarette smoking on background translocation yields have not been examined systematically. Further, the shape of the relationship between age and translocation frequency (TF) has not been definitively determined. We collected existing data from 16 laboratorie
This Blanchland route here is a mecca for soulful, moortop, mud-in-your-eye mountain biking thats as good as anywhere in the world.
Q&A. Q:什麼是自體免疫檢查?. A:少數人的免疫系統會攻擊自己的胚胎,造成胚胎無法著床或反覆流產。. 用抽血檢查即可知道體內是否具有特殊抗體。. Q:我需要做自體免疫檢查嗎?. A:1.累計植入10顆外表漂亮之胚胎或5顆囊胚沒成. 2.不明原因不孕、高齡、卵巢早衰(老)、體質過敏者. 3.反覆流產或習慣性流產. 以上只要有任一項符合,建議您做自體免疫篩檢。. Q:什麼時候可以做檢查?. A:無月經週期限制,任何時間皆可。. 因某些自體免疫反應可能是於懷孕後才啟動,建議可於懷孕時或剛流產後檢驗. ...
हाल ही में, केंद्र सरकार ने केन्द्रीय अन्वेषण ब्यूरो (सीबीआई) निदेशक आलोक वर्मा की जगह जॉइंट डायरेक्टर एम नागेश्वर राव को अंतरिम निदेशक नियुक्त किया है। सरकार ने
崇越指出,受益於先進製程需求強勁,晶圓代工廠12吋廠產能第4季還是會持續滿載;不過關於40/65奈米等其他製程,晶圓代工廠第4季稼動率則將下修至7-8成,此部分需求將會下滑。而由於第1、第4季向來是崇越的傳統淡季,因此目前對第4季營運亦是保守看待。. 不過由於崇越1-8月累積營收已達93.78億元,未來單月營收僅要達到10億元的門檻,今年全年營收就可追平去年,因此法人也普遍看好,崇越今年營收至少可和去年持平。 惟在今年獲利表現方面,崇越則是看的較為保守,指出由於毛利率較優的石英,因晶圓廠製程進行調整,減少爐管的使用、增加自動化設備的比重,因此出貨有不小衰退。就以上半年石英的營收佔比而言,已從去年同期的1成滑落至5-6%左右,因此估計今年獲利恐會往下走。 ...
Looking for online definition of Robertsonian in the Medical Dictionary? Robertsonian explanation free. What is Robertsonian? Meaning of Robertsonian medical term. What does Robertsonian mean?
A familial lympho-epithelial thymoma with constitutional chromosomal translocation t (14;20) (q24;p13) is presented: the thymoma and its particular translocation are present in the mother and the two sons of her offspring. The small number of cases do not allow establishing any relation between thymoma and this particular translocation. Concerning genetic counseling, an annual thoracic radiography is necessary for all the other family members, carriers or not of the translocation.
IGH translocations induce up-regulation of different oncogenes order propecia 1 mg on line hair loss 6 months after giving birth, it is Learning Objectives possible that all IGH translocations involved in MM converge on a ● To understand that myeloma should no longer be considered common pathway that is essential in the pathogenesis of the disease as a single entity and cause the inhibition of differentiation and an increase in cell ● To understand that better tools for diagnosis and monitoring survival and proliferation order 5 mg propecia with visa hair loss in men quilters. Gene expression profiling (GEP) analysis treatment efficacy are being implemented has demonstrated that expression of the cyclin proteins (CCND1, ● To understand that the treatment goal is to find the best CCND2, and CCND3) is increased in almost all MM patients, possible balance among efficacy, toxicity, and cost supporting the hypothesis that there is a potential unifying event in its pathogenesis. The ...
Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T. Deletions imprinted region: implications for the development of paternal and maternal upd(14)-likeand epimutations affecting the human chromosome 14q32.2 phenotypes. Nat Genet 40: 237-242, ...
TY - JOUR. T1 - Impact of primary molecular cytogenetic abnormalities and risk of progression in smoldering multiple myeloma. AU - Rajkumar, S. V.. AU - Gupta, V.. AU - Fonseca, R.. AU - Dispenzieri, A.. AU - Gonsalves, W. I.. AU - Larson, D.. AU - Ketterling, R. P.. AU - Lust, J. A.. AU - Kyle, R. A.. AU - Kumar, S. K.. PY - 2013/8/1. Y1 - 2013/8/1. N2 - We studied 351 patients with smoldering multiple myeloma (SMM) in whom the underlying primary molecular cytogenetic subtype could be determined based on cytoplasmic immunoglobulin fluorescent in situ hybridization studies. Hundred and fifty-four patients (43.9%) had trisomies, 127 (36.2%) had immunoglobulin heavy chain (IgH) translocations, 14 (4%) both trisomies and IgH translocations, 53 (15.1%) no abnormalities detected and 3 (0.9%) had monosomy13/del(13q) in the absence of any other abnormality. Among 127 patients with IgH translocations, 57 were t(11;14), 36 t(4;14), 11 musculoaponeurotic fibrosarcoma (MAF) translocations, and 23 other or ...
Author Summary Each time a mammalian cell duplicates its genome in preparation for cell division it activates thousands of so called
Background:This study was conducted to analyze the frequency, expression patterns, and the impact of individual proteins BCL2, BCL6, and p53 on overall survival (OS) in adult, diffuse large B-cell lymphoma (DLBCL) Patients. BCL2 gene was further investigated for potential alterations at the DNA level and correlated with OS. Materials and Methods: A total of 117 adult well-characterized DLBCL cases were included. The panel of antibodies comprised CD45, CD20, CD79a, CD3, BCL2, BCL6, and p53. PCR was also employed to correlate the events at the DNA level in BCL2. Results: The mean and median ages were 47.74 and 49 with a M:F ratio of 2.07:1. The incidence of BCL2, BCL6, and p53 expression was observed in 64.10%, 37.60%, and 52.13% of cases, respectively. Amplifiable quality DNA was available from 90 cases. BCL2/IGH translocation was found in 35/90 Patients (38.88%) with 24 cases showing BCL2 (MBR)/IGH and 11 cases BCL2 (mcr)/IGH translocation. No association between BCL2 overexpression and BCL2 /IGH
The chromosomal translocation t(1;19)(q23;p13) and its variant form der(19)t(1;19) found in 3-5% of acute lymphoblastic leukemia (ALL) results in the expression of the E2A-PBX1 fusion transcript. Although strongly associated with a pre-B immunophenotype, we report the occurrence of t(1;19) in bone m …
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When a fusion sequence combines upper-case and lower-case nucleotides, this indicates the approximate location of the boundary between both partner genes ...
When a fusion sequence combines upper-case and lower-case nucleotides, this indicates the approximate location of the boundary between both partner genes ...
Bioingeniería Latinoamericana junto a R&D Equipment Company presentes en CAENA 2013.
Maternal uniparental disomy (UPD) for chromosome 14 [upd(14)mat] may cause a characteristic phenotype with growth and developmental deficiency and precocious puberty. We report the case of a Japanese infant with an isochromosome 14 [i(14q)] and intrauterine growth retardation (IUGR). The infant is o …
Translocation is the exchange of chromosome segments, usually between nonhomologous chromosomes. There are two primary types of translocations: reciprocal translocations and Robertsonian translocations. A reciprocal translocation occurs when segments from nonhomologous chromosomes break off, with segment attaching to the other chromosome and vice-versa. A Robertsonian translocation occurs when two acrocentric chromosomes (chromosomes with tiny short arms, meaning the centromere is near one end) fuse at the centromere and lose their short arms.. Reciprocal translocations usually involve only two chromosomes, meaning the total chromosome number is unchanged. Reciprocal translocation are typically harmless, despite being more common in individuals so retarded that they require institutional care. There are three kinds of reciprocal translocation: alternate; adjacent-1; and adjacent-2.. Robertsonian translocations lead to a balanced karyotype with only 45 chromosomes. Because acrocentric short arms ...
A Robertsonian translocation 45,XY, t(13q; 14q) was detected in the leukocyte cultures of a phenotypically normal male. Silver staining technique for nucleolus organizer regions revealed that both acrocentrics involved in the translocation had lost their nucleolus organizers.
TY - JOUR. T1 - Mantle cell lymphoma with a novel t(11;12)(q13;p11.2). T2 - a proposed alternative mechanism of CCND1 up-regulation. AU - Menke, Joshua R.. AU - Vasmatzis, George. AU - Murphy, Stephen. AU - Yang, Lin. AU - Menke, David M.. AU - Tun, Han W. AU - King, Rebecca. AU - Smoley, Stephanie A.. AU - Ketterling, Rhett P.. AU - Sukov, William R.. PY - 2017/6/1. Y1 - 2017/6/1. N2 - Mantle cell lymphoma (MCL) is typically characterized by t(11;14), which places the [email protected] enhancer elements upstream of CCND1. This fusion results in up-regulation of CCND1 and consequently its protein product cyclin D1. Recent studies have shown that in MCL, mutations or translocations occurring within the 3′ untranslated region (UTR) of the CCND1 gene can result in a truncated mRNA transcript that is more stable and associated with more aggressive disease. We identified a case of MCL showing cyclin D1 overexpression by immunohistochemistry and a t(11;12)(q13;p11.2) by conventional cytogenetic studies. ...
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Syvanen M, Ducore J. Whole genome comparisons reveals a possible chimeric origin for a major metazoan assemblage. Journal of Biological Systems, (18) 261-75. 2010. Zunino SJ, Storms DH, Ducore JM. Novel in vivo model of inducible multi-drug resistance in acute lymphoblastic leukemia with chromosomal translocation t(4;11). Cancer Lett. 2010 Oct 1;296(1):49-54. Epub 2010 Apr 9.. Zunino SJ, Storms DH, Ducore JM. Parthenolide treatment activates stress signaling proteins in high-risk acute lymphoblastic leukemia cells with chromosomal translocation t(4;11). Int J Oncol. 2010 Nov;37(5):1307-13.. Gofman I, Ducore JM. Risk Factors for the Development of Obesity in Children Surviving ALL and NHL. Journal of Pediatric Hematologyl Oncology, 31(2): 101-107. 2008. Zunino SJ, Ducore JM, Storms DH. Parthenolide induces significant apoptosis and production of reactive oxygen species in high-risk pre-B leukemia cells. Cancer Letters, 254(1): 119-27. 2007. Winter S, Holdsworth MT, Devidas M, Raisch OW, ...
Do You Have Follicular Lymphoma? Join friendly people sharing true stories in the I Have Follicular Lymphoma group. Find forums, advice and chat with groups who share this life experience. A Follicular Lymphoma anonymous support group with informatio...
Robertsonian translocation: Two breaks occur in separate chromosomes, usually the 14th and 21st chromosomes. There is rearrangement of the genetic material so that some of the 14th chromosome is replaced by extra 21st chromosome. So while the number of chromosomes remain normal, there is a triplication of the 21st chromosome material ...
Liang X, Jones A, Giller RH, Swisshelm K, McGavran L, Meltesen L, Carstens B, McGranahan AN, Albano EA. Primary high-grade B-cell lymphoma of the breast with concurrent IGH-BCL2 and MYC-IGL translocations in an adolescent patient. Pediatr Dev Pathol. 2011 Sep-Oct; 14(5):402-6 ...
Changes in how follicular lymphoma is managed have led to substantial improvement in prognosis and over all survival for patients with the disease.
For patients with Relapsed/Refractory Follicular Lymphoma, second-line therapies are often successful in providing another remission.
New Insights into Transformed Follicular Lymphoma from the National LymphoCare Study - From the Blood Journals, News - ASH Clinical News
FDA granted approval to Bayer Healthcare Pharmaceuticals inhibitor Aliqopa (copanlisib) for the treatment of adults with relapsed follicular lymphoma.
MBR merupakan salah satu teknologi baru untuk pengolahan air limbah dengan menggabungkan teknik pemisahan membran dengan metode lumpur aktif.. Ini dapat digunakan untuk limbah kota dan pengolahan air limbah industri dan menggantikan tangki sedimentasi sekunder dalam menghilangkan partikel tersuspensi. sehingga dapat meningkatkan laju penyisihan nitrogen dan laju degradasi organik.. Sebagai sistem pengolahan air limbah fitur operasi sederhana. otomatisasi tinggi dan desain modular. itu juga ada di bawah keuntungan:. -Hemat 50% area pendudukan dibandingkan dengan sistem tradisional ...
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After a fairly normal and easy labor and delivery, Cal made his debut! He wasnt breathing well on his own and needed respiratory support. Because we knew he might be born with some abnormalities, we had lots of doctors ready to care for him right when he was born. A heart echo was one of the things they did right away, and the results came back showing quite a few defects with his little heart. At that point it was pretty clear he had the unbalanced chromosome translocation, but the microarray test results confirming this would take over a week to get back ...
Forbidden now has a big gun but who needs the Forbidden Dreadnought XT when the Druid is already billed as capable? In short... everyone. Let me explain.
This section includes notable fireplace mantels crafted in richly textured wood. Our featured mantels are traditional in form, and designed to enrich your s
All strawberry (Fragaria) species have a base haploid count of seven chromosomes; Fragaria vesca is diploid, having two pairs ... Evidence from archaeological excavations suggests that Fragaria vesca has been consumed by humans since the Stone Age. Woodland ... Mayrose, Itay; Lysak, Martin A (2020). "The Evolution of Chromosome Numbers: Mechanistic Models and Experimental Approaches". ... Renner, Susanne S.; Müller, Niels A. (2021). "Plant sex chromosomes defy evolutionary models of expanding recombination ...
"Structural basis for octameric ring formation and DNA interaction of the human homologous-pairing protein Dmc1". Mol. Cell. 14 ... "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489-95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID ... Habu T, Taki T, West A, Nishimune Y, Morita T (1996). "The mouse and human homologs of DMC1, the yeast meiosis-specific ... Sato S, Seki N, Hotta Y, Tabata S (1995). "Expression profiles of a human gene identified as a structural homologue of meiosis- ...
The gene paralog FAM71F1 and the gene LINC01000 directly neighbor FAM71F2 on chromosome 7. The gene spans 30,627 base pairs and ... FAM71F2 gene is located on chromosome 7 in humans (7q32.1), starting at 128,671,636 and ending at 128,702,262 on the positive ... The time of divergence between eight orthologs from the human FAM71F2 is shown in Figure 5. It is not found in birds or in ... Isoform a is the longest of the mRNA transcripts and spans 5,775 base pairs that translates into a 309 amino acids sequence. It ...
The leaves are arranged alternately along the stem, are up to about 9 cm long, have 2-3 pairs of leaflets, and end in branched ... Vicia bithynica is not cultivated for human or livestock consumption. The seeds contain high levels of vicine, which causes ... The flowers are arranged in pairs (although sometimes solitary) on long (5 cm) peduncles branching from the leaf axils. The ...
The TMEM251 gene is located on human chromosome 14, at 14q32.12, on the plus strand. The gene size is 1,277 base pairs. It ... The promoter region starts 500 base pairs upstream of the 5' UTR of TMEM251 mRNA transcript and contains part of this 5' UTR. ... "Q8N6I4 - TM251_HUMAN". UniProt. UnitProt. Retrieved 9 May 2015. "Human BLAT Search". UCSC Genome Browser. UCSC. Retrieved 9 May ... EST Profile data shows the tissue expression of TMEM251 in humans. TMEM251 has no paralogs in humans. It does have orthologs ...
In humans, it is encoded by the ALOX15 gene located on chromosome 17p13.3. This 11 kilobase pair gene consists of 14 exons and ... 1992) demonstrated that genes for 12-lipoxygenase and 15-lipoxygenase are located on human chromosome 17, whereas the most ... Consequently, human ALOX15 is now referred to as arachidonate-15-lipoxygenase-1, 15-lipoxygenase-1, 15-LOX-1, 15-LO-1, human 12 ... The distribution of Alox15 in sub-human primates and, in particular, rodents differs significantly from that of human ALOX15; ...
CS1 errors: missing periodical, Genes on human chromosome 1, Human proteins). ... The MORN1 gene is located on Chromosome 1 at locus 1p36.33 and contains 7 MORN repeats. It has 1641 base pairs in 14 exons in ... 2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315-21. Bibcode:2006Natur.441.. ... MORN1 containing repeat 1, also known as Morn1, is a protein that in humans is encoded by the MORN1 gene. The function of Morn1 ...
Articles with short description, Short description matches Wikidata, Genes on human chromosome 20, Genes, Human proteins). ... with the cDNA being 204,000 base pairs orientated on the plus strand. This codes for a protein of 408 amino acids with a ... The SLX4IP gene is located on the short arm (p) of chromosome 20 at position 12.2 (20p12.2). The human SLX4IP gene contains 14 ... Orthologs for the human SLX4IP gene have also been identified in 283 other organisms. The SLX4IP protein is expressed at its ...
Chromosome 18 open reading frame 63 is a protein which in humans is encoded by the C18orf63 gene. This protein is not yet well ... This gene is located at band 22, sub-band 3, on the long arm of chromosome 18. It is composed of 5065 base pairs spanning from ... "C18orf63 chromosome 18 open reading frame 63 [Homo sapiens (human)] - Gene - NCBI". Retrieved 2018-02-19 ... CS1 errors: generic name, Articles with short description, Short description matches Wikidata, Genes on human chromosome 18, ...
Articles with short description, Short description matches Wikidata, Genes on human chromosome X). ... The first ninety base pairs compose the five prime untranslated region and the last 1913 base pairs compose the three prime ... The isoelectric point of EFHC2 is estimated to be 7.13 in humans. Relative to other proteins expressed in humans, EFHC2 has ... EFHC2 is located on the negative strand (sense strand) of the X chromosome at p11.3. EFHC2 is one of a few, select number of ...
"MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice". ... Genes on human chromosome 1, Webarchive template wayback links). ... MutS protein homolog 4 is a protein that in humans is encoded ... indicating that it is not needed for establishing the preceding stages of pairing and synapsis of homologous chromosomes. In an ... Yi W, Wu X, Lee TH, Doggett NA, Her C (Jul 2005). "Two variants of MutS homolog hMSH5: prevalence in humans and effects on ...
This gene is found on the plus strand of chromosome 17 at locus 17q11.2. It spans from base pairs 31,254,928 to 31,272,124. ... CS1 errors: missing periodical, Genes on human chromosome 17). ... This missing region corresponds to 85 base pairs near the end ... "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome ... Transmembrane protein 98 is a single-pass membrane protein that in humans is encoded by the TMEM98 gene. The function of this ...
Uncharacterized protein C14orf80 is a protein which in humans is encoded by the chromosome 14 open reading frame 80, C14orf80, ... Of the mRNA variants that have been found experimentally, the longest is 1,719 base pairs and produces a protein with 426 amino ... C14orf80 is 9,393 base pairs long and contains 11 exons that can be alternatively spliced to form different mRNA variants. ... Behrends C, Sowa ME, Gygi SP, Harper JW (July 2010). "Network organization of the human autophagy system". Nature. 466 (7302): ...
If two given DNA markers are far apart on the initial chromosome, then it is likely that they will appear in distinct fragments ... First of all, desired chromosomes are broken into several segments with X-rays, after which they are implanted in rodent cells ... Radiation hybrid mapping (also known as RH mapping) is a technique for mapping mammalian chromosomes. Radiation hybrid mapping ... v t e (Articles needing additional references from November 2017, All articles needing additional references, Chromosomes, All ...
It is located on the human chromosome 4 at 4q35.1. The function of the protein encoded by this gene is not well understood, but ... The total span of the gene, including 5' and 3' UTR, is 3149 base pairs. The gene is flanked on the left by NUDT13 (nudix ... Overall in the human body, this gene is expressed at levels slightly below the average human gene expression level. The protein ... A Systematic Exploration of the Human Interactome. Cell, 162(2), 425-440. doi:10.1016/j.cell.2015.06.043 "ABHD8_HUMAN". UniProt ...
Genes on human chromosome X, Pages using multiple image with auto scaled images, Human proteins). ... Including 5' and 3' untranslated regions, isoform 1 is 18,515 base pairs long, spanning chromosome X at 40,626,921 - 40,647,554 ... Chromosome X Open Reading Frame 38 (CXorf38) is a protein which, in humans, is encoded by the CXorf38 gene. CXorf38 appears in ... UCSC entry on CXorf38 variant 1 "CXorf38 chromosome X open reading frame 38 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm ...
The SLC66A3 is a gene consisting of 26,831 base pairs spanning from 11,155,467-11,178,856 on chromosome 2. SLC66A3 mapped to ... Solute carrier family 66 member 3 is a gene in humans that encodes the protein SLC66A3. The function of the SLC66A3 protein is ... The promoter of SLC66A3 is 1,169 base pairs long and is located 1000 base pairs upstream of the 5' UTR. Many different ... "AceView: Gene:PQLC3, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". ...
The SLC2A1 gene is located on the p arm of chromosome 1 in position 34.2 and has 10 exons spanning 33,802 base pairs. The gene ... Genes on human chromosome, All articles with unsourced statements, Articles with unsourced statements from November 2015, ... GLUT 1 of humans and mice have 98% identity at the amino acid level. GLUT 1 is encoded by the SLC2 gene and is one of a family ... S2CID 18128118.*Lay summary in: "How Humans Make Up For An 'Inborn' Vitamin C Deficiency". ScienceDaily. March 21, 2008. Uldry ...
Genes on human chromosome 14, Wikipedia articles incorporating text from the United States National Library of Medicine, Human ... is 5,687 base pairs long. The NDUFB1 protein weighs 7 kDa and is composed of 58 amino acids. NDUFB1 is a subunit of the enzyme ... The human NDUFB1 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ... NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1 is an enzyme that in humans is encoded by the NDUFB1 gene. NADH ...
In humans, CHST14 is positioned on the long arm (q) of chromosome 15 at position 15.1, from base pair 40,470,961 to base pair ... v t e (Genes on human chromosome 15, All stub articles, Human chromosome 15 gene stubs). ... Human CHST14 genome location and CHST14 gene details page in the UCSC Genome Browser. Otsuki T, Ota T, Nishikawa T, Hayashi K, ... August 2010). "Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome". Human Mutation. 31 (8): 966-74. ...
... in the SLC39A9 gene can occur due to genetic deletion of the q24.1-24.3 band of base pairs within the human chromosome 14. This ... CS1 errors: requires URL, Articles with short description, Short description matches Wikidata, Genes on human chromosome 14, G ... ZIP9 influxes zinc ions into the cytosol and its gene is expressed almost in every tissue of human body. The sub-cellular ... Role of human ZIP9 in testosterone-induced prostate and breast cancer cell apoptosis". Endocrinology. 155 (11): 4250-65. doi: ...
The CCDC47 gene itself is located on the minus strand of human chromosome 17 and contains 13 exon splice sites and 14 distinct ... In regards to the mRNA, translation begins at base pair 337 and ends at 1728. There is a strong stem loop located in the 5' UTR ... Coiled-coil domain 47 (CCDC47) is a gene located on human chromosome 17, specifically locus 17q23.3 which encodes for the ... Human CCDC47 genome location and CCDC47 gene details page in the UCSC Genome Browser. (All articles with dead external links, ...
v t e (Genes on human chromosome 7, All stub articles, Human chromosome 7 gene stubs). ... a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the ... "Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers". Proceedings of the National ... Stromal antigen 3 is a protein that in humans is encoded by the STAG3 gene. STAG3 protein is a component of a cohesin complex ...
Genes on human chromosome, Genes on human chromosome 1, Human proteins, Genetics). ... HSPB7 and its gene pair SRARP are located 5 kb apart on the opposite strands of chromosome 1p36.13. HSPB7 is widely expressed ... in humans is a protein encoded by a gene of the same name with four exons that is located on chromosome 1p36.13.,. HSPB7 ... human)]". The National Center for Biotechnology Information.{{cite web}}: CS1 maint: url-status (link) "HSPB7_HUMAN". UniProt ...
Covering a total of 45,038 base pairs (bp) along the chromosome, the TMEM229B gene has a total of 3 exons in its primary ... Genes on human chromosome, All articles with links needing disambiguation, Articles with links needing disambiguation from ... Transmembrane protein 229b is a protein that in humans is encoded by the TMEM229b gene. The TMEM229B gene is also known as ... "Human Gene TMEM229B (uc001xjk.2) Description and Page Index". UCSC Genome Browser. Retrieved 2011-04-19. "Gene: TMEM229B ( ...
Paired box gene 9, also known as PAX9, is a protein which in humans is encoded by the PAX9 gene. It is also found in other ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 14, Wikipedia articles ... In humans, a frameshift mutation in the paired domain of PAX9 was discovered in those affected with oligodontia. Multiple ... "A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia". Human Genetics. 114 (3): 242-9. doi: ...
It contains approximately 1 Gbp (giga base pairs) or 109 base pairs. This genome size is close to the average observed for ... Jha, A. N.; Hutchinson, T. H.; Mackay, J. M.; Elliott, B. M.; Pascoe, P. L.; Dixon, D. R. (1995). "The chromosomes Of ... 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, ...
For example, diploid human cells contain 23 pairs of chromosomes including 1 pair of sex chromosomes (46 total), half of ... Recombination among the 23 pairs of human chromosomes is responsible for redistributing not just the actual chromosomes, but ... The paired and replicated chromosomes are called bivalents (two chromosomes) or tetrads (four chromatids), with one chromosome ... The paired chromosomes are called bivalent or tetrad chromosomes. The pachytene stage (/ˈpækɪtiːn/ PAK-i-teen), also known as ...
Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene. This gene is a member of the paired box (PAX ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 20, Wikipedia articles ... 1989). "Conservation of the paired domain in metazoans and its structure in three isolated human genes". EMBO J. 8 (4): 1183-90 ... 2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865-71. Bibcode:2001Natur.414.. ...
Humans have one pair fewer chromosomes than the great apes. Human chromosome 2 appears to have resulted from the fusion of two ... The typical human karyotypes contain 22 pairs of autosomal chromosomes and one pair of sex chromosomes (allosomes). The ... The karyotype of humans includes only 46 chromosomes. The other great apes have 48 chromosomes. Human chromosome 2 is now known ... In primates, the great apes have 24x2 chromosomes whereas humans have 23x2. Human chromosome 2 was formed by a merger of ...
... known interacting protein pairs) and a negative set (non-interacting protein pairs) is needed for the development of a ... The Conserved Neighborhood method is based on the hypothesis that if genes encoding two proteins are neighbors on a chromosome ... Prediction databases include many PPIs that are predicted using several techniques (main article). Examples: Human Protein- ... and humans.[44] In such studies, numerous mutations defective in the same gene were often isolated and mapped in a linear order ...
UniProt employs an "organism mnemonic" of not more than five alphanumeric characters, e.g., HUMAN for H. sapiens.[115] ... Reproductive isolation is threatened by hybridisation, but this can be selected against once a pair of populations have ... sets of chromosomes) and allozymes (enzyme variants).[46] ... using regions of about 10,000 base pairs. With enough data from ... Conserving Biodiversity in Human-Dominated Landscapes. Washington: Island Press. pp. 150-163. Archived from the original on 7 ...
Other designs may include a line along the bridge of the nose, or a single pair of small symmetical dots on the cheeks. ... Jared Diamond, 'Guns, Germs, and Steel: The Fates of Human Societies' (1997) Chapter 19 ... "Y-Chromosome Variation Among Sudanese: Restricted Gene Flow, Concordance With Language, Geography, and History" Archived 2016- ... 14] Equatorial Guinea,[29] Gabon, Senegal and the Gambia. ...
Therman, Eeva (১৯৮০)। Human Chromosomes: Structure, Behavior, Effects। Springer US। পৃষ্ঠা 112-24। আইএসবিএন 978-1-4684-0109-7। ... Machin, GA (জানুয়ারি ১৯৯৬)। "Some causes of genotypic and phenotypic discordance in monozygotic twin pairs"। American Journal ... "Human Anatomy"। Inner Body। সংগ্রহের তারিখ ৬ জানুয়ারি ২০১৩।. *↑ Parker-Pope, Tara (অক্টোবর ২৭, ২০০৯)। "The Human Body Is Built ... "The Science Behind the Human Genome Project"। Human Genome Project। US Department of Energy। ২ জানুয়ারি ২০১৩ তারিখে মূল থেকে ...
Empathy allows humans to experience love and to build bonds. The moral that humans gain from empathy allow them to repair and ... Throughout much of the life course, it serves mate choice, courtship, sex, and pair-bonding functions. It is a suite of ... Evolution of human music through sexual selection by G. F. Miller in N. L. Wallin, B. Merker, & S. Brown (Eds.), The origins of ... The Mating Mind: How Sexual Choice Shaped the Evolution of Human Nature Archived 15 May 2007 at the Wayback Machine by Geoffrey ...
"Human Molecular Genetics. 10 (16): 1665-71. doi:10.1093/hmg/10.16.1665. PMID 11487570.. ... One sensitive method is ELISA which is an immunosorbent assay which utilizes a pair of antibodies that recognize amyloid beta.[ ... The gene for the amyloid precursor protein is located on chromosome 21, and accordingly people with Down syndrome have a very ... To date, human testing has been avoided due to concern that it might interfere with signaling via Notch proteins and other cell ...
"List Of All Transcription Factors In Human". *^ Gill G (2001). "Regulation of the initiation of eukaryotic ... Transcription factors (like all proteins) are transcribed from a gene on a chromosome into RNA, and then the RNA is translated ... Pairs of transcription factors and other proteins can play antagonistic roles (activator versus repressor) in the regulation of ... There are up to 1600 TFs in the human genome.[3] Transcription factors are members of the proteome as well as regulome. ...
Anatomy of the Human Body. Chap. IX: Neurology. 22th Edition (en anglès). Lea & Febiger, Philadelphia, 1918 [Consulta: 3 ... Bordoni B, Zanier E «Cranial nerves XIII and XIV: nerves in the shadows» (en anglès). J Multidiscip Healthc, 2013 Mar; 6, pp: ... Ambros IM, Zellner A, Roald B, Amann G, et al «Role of ploidy, chromosome 1p, and Schwann cells in the maturation of ... Trochet, D; Bourdeaut, F; Janoueix-Lerosey, I; Deville, A; et al «Germline Mutations of the Paired-Like Homeobox 2B (PHOX2B) ...
Males ordinarily have a ZZ pair of sex-determining chromosomes, and females a ZW pair. However, the Colombian Rainbow boa ( ... Interactions with humans. Most common symptoms of any kind of snake bite envenomation.[109][110] Furthermore, there is vast ... Some species retain a pelvic girdle with a pair of vestigial claws on either side of the cloaca. Lizards have evolved elongate ... In some snakes, most notably boas and pythons, there are vestiges of the hindlimbs in the form of a pair of pelvic spurs. These ...
"American Journal of Human Genetics. 74 (5): 1043-50. doi:10.1086/386293. PMC 1181967. PMID 15042511.. ... Heterozygous mutations in PAX9 (paired box gene 9) could arrest tooth morphogenesis as it plays a role of transcription the ... "A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1". American Journal of ... "Journal of Human Genetics. 51 (3): 262-6. doi:10.1007/s10038-005-0353-6. PMID 16432638.. ...
Darwin, Charles (1859). "XIV". On The Origin of Species. പുറം. 503. ISBN 0-8014-1319-2. .. ... Zhang Z, Gerstein M (2004). "Large-scale analysis of pseudogenes in the human genome". Curr. Opin. Genet. Dev. 14 (4): 328-35. ... Radding C (1982). "Homologous pairing and strand exchange in genetic recombination". Annu. Rev. Genet. 16 (1): 405-37. doi: ... "Genome fragment of Wolbachia endosymbiont transferred to X chromosome of host insect". Proc. Natl. Acad. Sci. U.S.A. 99 (22): ...
A 2007 study flow sorted camel chromosomes, building on the fact that camels have 37 pairs of chromosomes (2n=74), and found ... 2007). "Cross-species chromosome painting among camel, cattle, pig and human: further insights into the putative ... When humans first domesticated camels is disputed. Dromedaries may have first been domesticated by humans in Somalia or South ... The Y is a small metacentric chromosome, while the X is a large metacentric chromosome.[52] ...
An additional pair was released to increase genetic diversity in 2016.[62][63] As part of a scientific study, a pair of ... The difference in chromosome count makes interspecific breeding unlikely in areas where the two species' ranges overlap.[3] ... The Eurasian beaver is recovering from near extinction, after depredation by humans for its fur and for castoreum, a secretion ... On 19 November 2011, a pair of beaver sisters was released into a 2.5-acre (1 ha) enclosure at Blaeneinion,[97] A colony of ...
Number of chromosomes. 24 pairs. Year of completion. 2011. Orangutans have 48 chromosomes.[23] The Sumatran orangutan genome ... This remains the only known case, but raises the question of why the known human cure for Streptococcus was ineffective in this ... They are extremely large animals, weighing between 50 and 90 kilograms, roughly the weight of a fully grown human. They have a ... The orangutan genome also has fewer rearrangements than the chimpanzee/human lineage.[24] ...
... s that reflect the full range of visible light are generally perceived as white by a human observer. An important feature ... they are often paired with an external vector.[94] ... two copies of each chromosome) cell.[78] ... Humans observers will perceive this as degrees of saturation (the amount of white in the color). ... History shows that flowers have been used by humans for thousands of years, to serve a variety of purposes. An early example of ...
The haploid genome is about three billion base pairs long (3,000 Mb distributed over 19 autosomal chromosomes plus 1 ... Mice differ from humans in several immune properties: mice are more resistant to some toxins than humans; have a lower total ... Southwick CH, Clark LH (1966). "Aggressive behaviour and exploratory activity in fourteen mouse strains". Am. Zool. 6: 559.. ... respectively 2 sex chromosomes), therefore equal to the size of the human genome.[citation needed] Estimating the number of ...
When the chromosome is replicated, this gives rise to one daughter chromosome that is heavily methylated downstream of the ... In MMEJ repair of a double-strand break, an homology of 5-25 complementary base pairs between both paired strands is sufficient ... In human cells, and eukaryotic cells in general, DNA is found in two cellular locations - inside the nucleus and inside the ... In human cells, oxidative DNA damage occurs about 10,000 times a day and DNA double-strand breaks occur about 10 to 50 times a ...
Stewart, Dugald (1792). Elements of the philosophy of the human mind (1 ed.). p. 80. Retrieved 14 April 2022.. ... These conditions are mediated by the OPN1SW gene on Chromosome 7. Other genetic causes[edit]. Several inherited diseases are ... Confusion colors are pairs or groups of colors that will often be mistaken by the colorblind. Confusion colors for red-green ... "Human Vision and Color Perception". Florida State University. Archived from the original on 27 August 2007. Retrieved 5 April ...
For example, in the Homininae, two chromosomes fused to produce human chromosome 2; this fusion did not occur in the lineage of ... HIV resistance: a specific 32 base pair deletion in human CCR5 (CCR5-Δ32) confers HIV resistance to homozygotes and delays AIDS ... In humans, the mutation rate is about 50-90 de novo mutations per genome per generation, that is, each human accumulates about ... Ségurel L, Bon C (August 2017). "On the Evolution of Lactase Persistence in Humans". Annual Review of Genomics and Human ...
Svendsen G. E. (1989). "Pair formation, duration of pair-bonds, and mate replacement in a population of beavers (Castor ... Relationship with humans[edit]. As introduced non-native species[edit]. See also: Beaver eradication in Tierra del Fuego ... North American beavers have 40 chromosomes, while European beavers have 48. Also, more than 27 attempts were made in Russia to ... Although the fur enterprise failed, 25 mating pairs of beavers were released into the wild. Having no natural predators in ...
... are found on chromosomes 22 and 2 in humans. One of these domains is called the variable domain, which is present in each heavy ... whose flexibility allows antibodies to bind to pairs of epitopes at various distances, to form complexes (dimers, trimers, etc ... In humans and most mammals, an antibody unit consists of four polypeptide chains; two identical heavy chains and two identical ... Rhoades RA, Pflanzer RG (2002). Human Physiology (5th ed.). Thomson Learning. p. 584. ISBN 978-0-534-42174-8. .. ...
V. faba has a diploid (2n) chromosome number of 12 (six homologous pairs). Five pairs are acrocentric chromosomes and one pair ... In much of the English-speaking world, the name "broad bean" is used for the large-seeded cultivars grown for human food, while ... It is widely cultivated as a crop for human consumption, and also as a cover crop. Varieties with smaller, harder seeds that ... Beans generally contain phytohaemagglutinin, a lectin that occurs naturally in plants, animals, and humans.[18] Most of the ...
"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. ... "Human Biology Open Access Pre-Prints. 85 (6).. *^ Eva Fernández; Alejandro Pérez-Pérez; Cristina Gamba; Eva Prats; Pedro Cuesta ... "The American Journal of Human Genetics. 83 (6): 725-736. doi:10.1016/j.ajhg.2008.11.007. PMC 2668061. PMID 19061982.. ...
"The terminal deoxynucleotidyltransferase gene is located on human chromosome 10 (10q23----q24) and on mouse chromosome 19". ... This occurs optimally with a one base-pair break between strands and less so with an increasing gap. This is facilitated by a ... "Chromosome localization of the gene for human terminal deoxynucleotidyltransferase to region 10q23-q25". Proceedings of the ... In humans, terminal transferase is encoded by the DNTT gene.[5][6] As a member of the X family of DNA polymerase enzymes, it ...
The International System for Human Cytogenomic Nomenclature (ISCN) is an international standard for human chromosome ... It shows 22 homologous autosomal chromosome pairs as well as both the female (XX) and male (XY) versions of the two sex ... symbols and abbreviated terms used in the description of human chromosome and chromosome abnormalities. Abbreviations include a ... Human karyotype with annotated bands and sub-bands as used for the nomenclature of chromosome abnormalities. It shows dark and ...
... hae 64 chromosomes.[35] The horse genome wis sequenced in 2007. It conteens 2.7 billion DNA base pairs,[36] that is ... Horse are nae ruminants, thay hae anerly oane painch, lik humans, but unlik humans, thay can utilize cellulose, a major ... The exterior huif waw an horn o the sole is made o keratin, the same material as a human fingernail.[60] The end result is that ... Unlik humans, horse dae nae sleep in a solit, unbroken period o time, but tak mony short periods o rest. Horse spend fower tae ...
The pair of derivative inverted conditional opinions is denoted (. ω. A. ,. ~. B. S. ,. ω. A. ,. ~. ¬. B. S. ). {\displaystyle ... Allen, Richard (1999). David Hartley on Human Nature. SUNY Press. pp. 243-4. ISBN 978-0-7914-9451-6. . Retrieved 16 June 2013. ... located on the q arm of chromosome 7.[30] ... denotes a pair of binomial conditional opinions given by source ... 14] Bayes's major work "An Essay towards solving a Problem in the Doctrine of Chances" (1763), which appeared in Philosophical ...
In humans, the gene that codes for this enzyme is located on the long arm of chromosome 3 (3q13). This bifunctional enzyme has ... In Salmonella typhimurium, a new pair of antiparallel β-sheets is created and five new interatomic contacts are formed in the ... Portal: Biology (Genes on human chromosome 3, EC 4.1.1, EC 2.4.2). ... "Localization of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization". Genomics ...
... is caused by mutations in both copies of the CENPF gene, located on the long arm of chromosome 1. CENPF codes ... They are made by the centrosome, which contains a pair of cylindrical centrioles at right-angles to each other. Before division ... Badano JL, Mitsuma N, Beales PL, Katsanis N (1 September 2006). "The ciliopathies: an emerging class of human genetic disorders ... Filges I, Stromme P (January 2020). "CUGC for Stromme syndrome and CENPF-related disorders". European Journal of Human Genetics ...
Odz1 to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-3. doi:10.1006/geno.1999.5798. PMID ... Levine A, Bashan-Ahrend A, Budai-Hadrian O, Gartenberg D, Menasherow S, Wides R (May 1994). "odd Oz: A novel Drosophila pair ... Odz1to Mouse Chromosome 11; and ODZ3 to Human Chromosome Xq25". Genomics. 58 (1): 102-103. doi:10.1006/geno.1999.5798. PMID ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 4). ...
... base pairs) and represents about 3.5 percent of the total DNA in cells. Learn about health implications of genetic changes. ... Chromosome 14 spans more than 107 million DNA building blocks ( ... Current status of human chromosome 14. J Med Genet. 2002 Feb;39 ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 14, one copy inherited from ... Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 14. Genet Test. 1999;3(4):379-91. doi: ...
... reveals that ERbeta is located at human chromosome 14, region q23-24.1, where the aberration of DNA copy number in the bone ... Chromosomal mapping of the human estrogen receptor beta (ERbeta) gene by fluorescence in situ hybridization (FISH) ... Chromosome Mapping * Chromosomes, Human, Pair 14 * DNA Primers * Estrogen Receptor beta * Female ... reveals that ERbeta is located at human chromosome 14, region q23-24.1, where the aberration of DNA copy number in the bone ...
... cassette was used to circularize two linear YACs containing genomic DNA from human chromosome 21. The circularized YACs were ... cassette was used to circularize two linear YACs containing genomic DNA from human chromosome 21. The circularized YACs were ... cassette was used to circularize two linear YACs containing genomic DNA from human chromosome 21. The circularized YACs were ... cassette was used to circularize two linear YACs containing genomic DNA from human chromosome 21. The circularized YACs were ...
Chromosomes, Human, Pair 6 Medicine & Life Sciences 17% * Multigene Family Medicine & Life Sciences 14% ... Human homeo box-containing genes located at chromosome regions 2q31→2q37 and 12q12→12q13. In: American Journal of Human ... The human homeo box-containing cluster of genes at chromosome region 17q21 is the human cognate of the mouse homeo box- ... The human homeo box-containing cluster of genes at chromosome region 17q21 is the human cognate of the mouse homeo box- ...
Chromosomes, Human, Pair 8 15% * Ribosomal Proteins 14% * Genetic Translocation 14% * Terminator Codon 13% ...
Human, Pair 19" by people in this website by year, and whether "Chromosomes, Human, Pair 19" was a major or minor topic of ... A specific pair of GROUP F CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 19" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 19" by people in Profiles. ...
Human, Pair 7" by people in this website by year, and whether "Chromosomes, Human, Pair 7" was a major or minor topic of these ... A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 7" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 7" by people in Profiles. ...
Chromosomes, Human, Pair 14 Medicine & Life Sciences 100% * Fragile X Syndrome Medicine & Life Sciences 95% ... Zebrafish Chromosome 14 Gene Differential Expression in the fmr1hu2787 Model of Fragile X Syndrome. In: Frontiers in Genetics. ... Zebrafish Chromosome 14 Gene Differential Expression in the fmr1hu2787 Model of Fragile X Syndrome. / Barthelson, Karissa; Baer ... Zebrafish Chromosome 14 Gene Differential Expression in the fmr1hu2787 Model of Fragile X Syndrome. Frontiers in Genetics. 2021 ...
Preimplantation genetic screening (PGS) determines the chromosomal status of an embryo by screening all 23 chromosome pairs ... Gene editing on humans. Chinese scientists are embarking on what appear to be the first human trials with the Crispr gene ... It appears that around a third of embryos with the correct number of chromosomes still fail to lead to a successful pregnancy. ... Nature - Chinese scientists to pioneer first human CRISPR trial. Chinese scientists are on the verge of being first in the ...
Chromosomes, Human, Pair 19 24% * Fluorescence In Situ Hybridization 17% * Clone Cells 14% ... Assignment of the mouse homologue of a human MEN1 candidate gene, phospholipase C-β3 (Plcb3), to chromosome region 19B by FISH ... Dive into the research topics of Assignment of the mouse homologue of a human MEN1 candidate gene, phospholipase C-β3 (Plcb3 ... to chromosome region 19B by FISH. Together they form a unique fingerprint. ...
Yep, its a gene, name of KL, located on the long arm of chromosome 13, from base pair 33,016,062 to base pair 33,066,144. What ... Human nature is grounded in part on cold biology. You dont have to like that, but you do have to accept it as a fact in the ... 100 million this past fourteen years. Hillary charges $200,000 and up for a speech. And try listening to one of her speeches. I ... 07 - Human Nature 101. We live in a peculiar age, a span of history in which the most obvious and commonplace observations ...
Recognition of human gastrointestinal cancer neoantigens by circulating PD-1+ lymphocytes. J. Clin. Invest. 2019, 129, 4992- ... BRCA2 is located on chromosome 13q12-13 and is 3418 amino acids long. BRCA2 is characterized by a very large exon 11 containing ... a 1 base pair insertion, a premature stop codon, an 11 bp deletion, a missense mutation, and a putative regulatory mutation [1 ... First-in-human study of AZD5153, a small molecule inhibitor of bromodomain protein 4 (BRD4), in patients (pts) with relapsed/ ...
Chromosomes, Human, Pair 13 26% * Plasma Phosphorylated-tau181 Is a Predictor of Post-stroke Cognitive Impairment: A ... 879-892 14 p.. 研究成果: 雜誌貢獻 › 文章 › 同行評審 ... 14, 889101.. 研究成果: 雜誌貢獻 › 文
Chromosomes, Human, Pair 10 35% * Quantitative Trait Loci 34% 7 Scopus citations ... Methamphetamine use alters human plasma extracellular vesicles and their microRNA cargo: An exploratory study. Sandau, U. S., ... Genetic polymorphisms affect mouse and human trace amine-associated receptor 1 function. Shi, X., Walter, N. A. R., Harkness, J ... Rigid adenine nucleoside derivatives as novel modulators of the human sodium symporters for dopamine and norepinephrine. ...
Chromosomes, Human, Pair 11 100% * African Continental Ancestry Group 76% * European Continental Ancestry Group 43% ... Linkage of left ventricular contractility to chromosome 11 in humans: The hyperGEN study. Arnett, D. K., Devereux, R. B., ... Keats, B. J. B., Morton, N. E. & Rao, D. C., Jan 1977, In: Human genetics. 39, 2, p. 157-159 3 p.. Research output: ... Rao, D. C. & Morton, N. E., 1973, In: American journal of human genetics. 25, 6, p. 594-597 4 p.. Research output: Contribution ...
Chromosomes Medicine & Life Sciences 29% * Chromosomes, Human, Pair 13 Medicine & Life Sciences 24% ... N2 - Roughly 5% of all patients with retinoblastoma carry a constitutional chromosome deletion on the long arm of chromosome 13 ... AB - Roughly 5% of all patients with retinoblastoma carry a constitutional chromosome deletion on the long arm of chromosome 13 ... Roughly 5% of all patients with retinoblastoma carry a constitutional chromosome deletion on the long arm of chromosome 13, ...
Chromosomes, Human, Pair 6 Medicine & Life Sciences 17% * Multigene Family Medicine & Life Sciences 14% ... Human homeo box-containing genes located at chromosome regions 2q31→2q37 and 12q12→12q13. In: American Journal of Human ... The human homeo box-containing cluster of genes at chromosome region 17q21 is the human cognate of the mouse homeo box- ... The human homeo box-containing cluster of genes at chromosome region 17q21 is the human cognate of the mouse homeo box- ...
Chromosomes, Human, Pair 9 Medicine & Life Sciences 14% * Chromosomes, Human, Pair 11 Medicine & Life Sciences 13% ... notably on chromosomes 9, 11, 12, and 14, suggesting their involvement in tumorigenesis and metastasis of MM. These genes were ... notably on chromosomes 9, 11, 12, and 14, suggesting their involvement in tumorigenesis and metastasis of MM. These genes were ... notably on chromosomes 9, 11, 12, and 14, suggesting their involvement in tumorigenesis and metastasis of MM. These genes were ...
Abortion, Spontaneous; Azoospermia; Chromosome Breakpoints; Chromosomes, Human, Pair 4; Female; Genetic counseling; ... Adult; Aged; Aged, 80 and over; Asians; China; Chromosome aberrations; Chromosomes, Human; Female; Humans; Karyotyping; ... Cesarean section; Chromosomes, Human, Pair 14; Cytogenetic Analysis; Female; Humans; Infant, Newborn; Intensive Care Units, ... Azoospermia; Chromosome aberrations; Cytogenetic Analysis; Genetic counseling; Heterozygote; Humans; Live Birth; male; ...
Chromosomes, Human, Pair 14 33% * Axon Guidance 31% * Human Chromosomes 28% * Oligodendroglia 27% ...
Chromosomes, Human, Pair 18 20% * Chromosomes, Human, Pair 14 20% * Metaphase 16% ...
Chromosomes, Human, Pair 4 12% * Chromosomes, Human, Pair 10 12% * Trisomy 11% ...
Her main point was that 99.9% of the 3 billion nucleotide pairs in the human genome are identical in all humans - but that the ... an excellent explanation of how the Y-chromosome (for males) and mitochondrial DNA (for males and females) can be used in ... Neanderthals shared 99.5% of the human genome, Chimpanzees and Bonobos share 98.4%, and dogs share 95%. I, and you, share 50% ... Time permitting, she will update you on DNA applications in other areas: medicine, ancestral human migration, and what DNA ...
... and metaphase chromosome analysis of human lymphocytes) and in one in vivo test (micronucleus test by oral route in mice). ... Clopidogrel was found to have no effect on fertility of male and female rats treated prior to pairing and throughout gestation ... Human data The available data from published case reports over two decades of postmarketing use have not identified an ... When a drug is present in animal milk, it is likely that the drug will be present in human milk. The developmental and health ...
Chromosomes, Human, Pair 10 Medicine & Life Sciences 14% * Tensins Medicine & Life Sciences 14% ... and total phosphatase and tensin homolog deleted on chromosome 10 (PTEN) expressions in patients undergoing adjuvant ... and total phosphatase and tensin homolog deleted on chromosome 10 (PTEN) expressions in patients undergoing adjuvant ... and total phosphatase and tensin homolog deleted on chromosome 10 (PTEN) expressions in patients undergoing adjuvant ...
... weassigned the human THEG gene (THEG) to human chromosome 19ptel p13 byfluorescence in situ hybridization. Moreover, we ... Database searchesidentified two genomic clones on chromosome 19 harboring the human THEGgene, which is approximately 14 kb ... pairs in size, contains eight exons,and comparison of the two cDNA sequences with the genomic sequenceindicated that the ... Both human and mouse THEG are specifically expressed in the nucleus of haploid male germ cells and are involved in the ...
  • Identifying genes on each chromosome is an active area of genetic research. (
  • Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (
  • Chromosome 14 likely contains 800 to 900 genes that provide instructions for making proteins. (
  • The region of chromosome 14 that is deleted includes the FOXG1 gene as well as several neighboring genes. (
  • Researchers believe that several critical genes near the end of the long (q) arm of chromosome 14 are lost when the ring chromosome forms. (
  • The loss of these genes is likely responsible for several of the major features of ring chromosome 14 syndrome, including intellectual disability and delayed development. (
  • Seizures may occur because certain genes on the ring chromosome 14 are less active than those on the normal chromosome 14. (
  • Terminal deletion 14 syndrome is caused by the loss of several genes at the end (terminus) of the long (q) arm of chromosome 14. (
  • A second cDNA clone, c1, which is 87% homologous to Hox-2.2 at the nucleotide level but is distinct from Hox-2.1 and Hox-2.2, also maps to this region of human chromosome 17 and is probably another member of the Hox-2 cluster of homeo box-containing genes. (
  • The human homeo box-containing cluster of genes at chromosome region 17q21 is the human cognate of the mouse homeo box-containing gene cluster on mouse chromosome 11. (
  • Other mouse homeo box-containing genes of the Antennapedia class (class I) map to mouse chromosomes 6 (Hox-1, proximal to the IgK locus) and 15 (Hox-3). (
  • Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19. (
  • The majority of the differentially expressed genes are located, like fmr1, on Chromosome 14. (
  • Enrichment testing of the "leading edge" differentially expressed genes from Chromosome 14 revealed that their co-location on this chromosome may be associated with roles in brain development and function. (
  • The differential expression of functionally related genes due to mutation of fmr1, and located on the same chromosome as fmr1, is consistent with R.A. Fisher's assertion that the selective advantage of co-segregation of particular combinations of alleles of genes will favour, during evolution, chromosomal rearrangements that place them in linkage disequilibrium on the same chromosome. (
  • However, we cannot exclude that the apparent differential expression of genes on Chromosome 14 genes was, (if only in part), caused by differences between the expression of alleles of genes unrelated to the effects of the fmr1 hu2787 mutation and made manifest due to the limited, but non-zero, allelic diversity between the genotypes compared. (
  • Using next-generation sequencing (NGS) technology, we detected asymmetrical expression of genes among the three cell lines, notably on chromosomes 9, 11, 12, and 14, suggesting their involvement in tumorigenesis and metastasis of MM. These genes were clustered into 41 categories based on their expression patterns, and their biological functions were analyzed using Ingenuity Pathway Analysis. (
  • Figure 2B shows the signal distribution along the long arm of chromosome 19 and a zoomin to an enriched region containing several ZNF repeat genes. (
  • Figure 3 shows the peak distribution on the long arm of chromosome 19 as well as a zoomin to a region enriched in ZNF repeat genes, and in a genomic regions surrounding the MEG3 imprinted control gene on chromosome 14 (figure 3A and B, respectively). (
  • Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH). (
  • Pax: A murine multigene family of paired box-containing genes. (
  • Modern research has discovered the location of certain genes for very specific functions, for example the ABO blood group antigenes have been found on number 9 chromosome. (
  • This provided an unprecedented opportunity to examine somatic mutational patterns by sequencing multiple cancer-associated genes, by sequencing all coding regions of the human genome (i.e., usually referred to as whole-exome sequencing), or even by interrogating the complete sequence of a cancer genome (i.e., an approach known as whole-genome sequencing). (
  • Analysis of 14 candidate genes for diabetic nephropathy on chromosome 3q in European populations: strongest evidence for association with a variant in the promoter region of the adiponectin gene. (
  • We studied 14 plausible candidate genes in the linkage region because of their potential role in vascular complications. (
  • The assembled fox genomic DNA revealed 21,418 protein coding genes and that 84% of the sequencing scaffolds map to one dog chromosome, 15% to two or more, and 1% could not be assigned. (
  • The human genome encodes more than 500 tRNA genes but their individual contribution to the cellular tRNA pool is unclear. (
  • The interaction of genes with each other and with environmental factors underlies many aspects of human health and disease. (
  • These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. (
  • Here the genetic factors can influence the development of a variety of neurologic disorders that are typically inherited from parents through genes and chromosomes. (
  • Changes in chromosomes, whether in number or in structure, have large effects on characteristics because they contain large numbers of genes. (
  • This result in a loss of genes from a chromosome. (
  • Inside our prior studies we discovered serious deregulation of microRNAs in papillary thyroid carcinoma with miR-146a-5p and miR-146b-5p getting together with the set of up-regulated genes [14,15]. (
  • Each chromosome has a set of genes. (
  • The development of linkage disequilibrium (LD) maps is very important for understanding the nature of non-linear association between phenotypes and genes, as LD can be defined as the non-random segregation of a pair of alleles at polymorphic sites. (
  • 2) Genes implicated in neuropsychiatric disorders are active in human fetal brain, yet difficult to study in a longitudinal fashion. (
  • Chromosomal mapping of the human estrogen receptor beta (ERbeta) gene by fluorescence in situ hybridization (FISH) reveals that ERbeta is located at human chromosome 14, region q23-24.1, where the aberration of DNA copy number in the bone disorders is frequently involved. (
  • Four human homeo box-containing cDNAs isolated from mRNA of an SV40-transformed human fibroblast cell line have been regionally localized on the human gene map. (
  • A mouse gene, En-1, with an engrailed-like homeo box (class II) and flanking region maps to mouse chromosome 1 (near the dominant hemimelia gene). (
  • Human ornithine decarboxylase-encoding loci: nucleotide sequence of the expressed gene and characterization of a pseudogene. (
  • Alternative splicing, chromosome assignment and subcellular localizationof the testicular haploid expressed gene (THEG). (
  • The IP'd DNA was analysed by QPCR with optimized PCR primer pairs for the promoter and coding region of the active GAPDH gene, for the coding region of the ZNF510 gene and for the Sat2 satellite repeat (figure 2A). (
  • Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. (
  • No known mechanism of mutation, either at the gene level or the chromosome level has been discovered which will produce evolutionary advancement. (
  • Here we applied the robust Gene Identification Signature Paired End diTag (GIS-PET) approach to investigate the melanoma transcriptome and characterize the global pathway aberrations. (
  • We applied the robust Gene Identification Signature Paired-End diTag technology (GIS-PET) to reveal the global pathway aberrations in melanoma by using the murine melanoma cell line B16F1 as a model system. (
  • Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia. (
  • OBM Geriatrics is an Open Access journal published quarterly online by LIDSEN Publishing Inc. The journal takes the premise that innovative approaches - including gene therapy, cell therapy, and epigenetic modulation - will result in clinical interventions that alter the fundamental pathology and the clinical course of age-related human diseases. (
  • Precedence will be given to papers describing fundamental interventions, including interventions that affect cell senescence, patterns of gene expression, telomere biology, stem cell biology, and other innovative, 21st century interventions, especially if the focus is on clinical applications, ongoing clinical trials, or animal trials preparatory to phase 1 human clinical trials. (
  • Although the genome-wide specificities of CRISPR-Cas9 systems remain to be fully defined, the capabilities of these systems to perform targeted, highly efficient alterations of genome sequence and gene expression will undoubtedly transform biological research and spur the development of novel molecular therapeutics for human disease. (
  • FANCB is the one exception to FA being autosomal recessive , as this gene is on the X chromosome. (
  • The structural chromosome alterations may arise at the chromosome level (e.g., translocations and gains or losses of large portions of chromosomes) or at the nucleotide level, which influence gene structure or expression such as mutations, insertions, deletions, gene amplifications, and gene silencing by epigenetic effects ( Jefford and Irminger-Finger, 2006 ). (
  • Chromosome and gene. (
  • In support of this idea are the linea that the colorectal tumor suppressor protein DCC has some structural homology to LAR438 and that the LAR gene maps to a linds on chromosome 1p32-33 that is thought e contain a breast cancer tumor sup- pressor gene. (
  • Seven polymorphic sites in the beta-globin gene cluster were analyzed on a sample of 96 chromosomes of Venezuelan sickle cell patients from the State of Aragua. (
  • The gene defect is located on chromosome 8, characterized as the intestinal zinc transporter gene ( ZIP4 ), or SLC39A4 gene, at locus 8q24.3. (
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 14. (
  • Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14 or r(14). (
  • A new test called Comprehensive Chromosomal Screening (CCS) is allowing fertility specialists to determine with much greater accuracy which embryos in IVF have the normal number of chromosomes and are the most likely to result in a successful pregnancy. (
  • In addition, the chromosomal loci associated with invasion are amplified in both mouse and human lung cancer. (
  • Many FA patients (about 30%) do not have any of the classic physical findings, but diepoxybutane chromosome fragility assay showing increased chromosomal breaks can make the diagnosis. (
  • The researchers applied a method called 'Hi-C' (High-throughput Chromosome Conformation Capture) to samples from patients with developmental disorders suspected to be caused by chromosomal rearrangements. (
  • The classical analysis of chromosomal defects is done by a karyogram, which is a microscopic view of stained chromosomes. (
  • As a major form of genomic instability, chromosomal instability comprises aberrant chromosome numbers (i.e., aneuploidy or polyploidy) and structural changes in chromosomes. (
  • A plasmid containing YAC vector sequences and a complementary ' 1/2 -neo-lox' cassette was used to circularize two linear YACs containing genomic DNA from human chromosome 21. (
  • Database searchesidentified two genomic clones on chromosome 19 harboring the human THEGgene, which is approximately 14 kb pairs in size, contains eight exons,and comparison of the two cDNA sequences with the genomic sequenceindicated that the smaller transcript lacks exon 3. (
  • As powerful tools to detect molecular changes associated with primary and invasive mouse lung adenocarcinoma cells, we used Spectral Karyotyping, mapping with fluorescently labeled genomic clones and comparative genomic hybridization on a BAC array to analyze 15 primary adenocarcinoma and 9 pairs of high and low invasive tumor cell cultures. (
  • The study involved genomic DNA sequence comparisons of farm-bred foxes (which, while not still wild continue to exhibit fear or aggression towards humans) and two subsets of such foxes conditioned in diametrically opposed fashion for positive response to humans or aggression towards humans. (
  • This study provides genomic DNA assembly and annotation for the three types of foxes having three types of responses to humans. (
  • In combination with culture-based approaches, we established a genomic catalog and a paired 16-member in vitro washed-rind cheese system. (
  • Investigations of the minimal region of alteration of chromosome 4 by fluorescent in situ hybridization (FISH) and BAC array demonstrated the deletion of a 3 centimorgan region in the middle portion of the chromosome. (
  • Roughly 5% of all patients with retinoblastoma carry a constitutional chromosome deletion on the long arm of chromosome 13, which confers a prezygotic predisposition to tumour development. (
  • A deletion of genetic material from part of the long (q) arm of chromosome 14 can cause FOXG1 syndrome, which is a rare disorder characterized by impaired development and structural brain abnormalities. (
  • The third cDNA clone, c8, in which the homeo box is ~84% homologous to the mouse Hox-1.1 homeo box region on mouse chromosome 6, maps to chromosome region 12q12→12q13, a region that is involved in chromosome abnormalities in human seminomas and teratomas. (
  • Wehave isolated the cDNAs of human THEG major and THEG minor, containing thecomplete open reading frames, which encode putative nuclear proteins of379 amino acids and 355 amino acids, respectively. (
  • Previous reports suggest that electrical forces on cell structure proteins interfered with the chromosome separation during mitosis and induced apoptosis. (
  • the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. (
  • Chromosome 14 spans more than 107 million DNA building blocks (base pairs) and represents about 3.5 percent of the total DNA in cells. (
  • The genome of the isolate consists of 2,264,319 base pairs. (
  • Today, the 3.4 billion base pairs of the 46 human chromosomes can be read relatively cost-effectively in just a few days. (
  • In humans, mitochondrial DNA spans about 16,500 DNA building blocks (base pairs), representing a small fraction of the total DNA in cells. (
  • The Human Genome Project (HGP) was an international scientific effort to sequence the entire human genome, that is, to produce a map of the base pairs of DNA in the human chromosomes, most of which do not vary among individuals. (
  • Sep 22, 2022 Telomere vesicles retained the Rad51 recombination factor that enabled telomere fusion with T-cell chromosome ends lengthening them by an average of 3,000 base pairs. (
  • B) In humans, the 23rd pair, the sex chromosomes, determines whether the person is female (XX) or male (XY). (
  • The 23rd pair in gonadal cell called sex chromosome which is not always a perfect pair. (
  • Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. (
  • A rearrangement (translocation) that moves genetic material from one of several other chromosomes to a region of chromosome 14 called 14q32 occurs in 20 to 60 percent of cases of multiple myeloma, which is a cancer arising from plasma cells, a type of white blood cell. (
  • In addition, some people with terminal deletion 14 syndrome have a loss or gain of genetic material from another chromosome. (
  • Translocation breakpoints of chromosome 4 in male carriers: clinical features and implications for genetic counseling. (
  • In the genetic material, inside the nucleus of a single cell, there are the complete instructions to create a human being and it's amazing to think that all that information is packaged inside your little bit of DNA which weighs about seven picograms. (
  • Well, out of our 23 pairs of chromosomes, 22 pairs are normal chromosomes containing genetic information. (
  • The genetic map around the tail kinks (tk) locus on mouse chromosome 9. (
  • A chromosome-scale assembly was generated based on the high-density genetic map, covering 86% of the azuki bean genome. (
  • Some genetic diseases, such as haemophilia, are carried on the X-chromosome (these X-linked disorders occur mainly in men). (
  • Down syndrome (DS) is the most common an important study variable and major international genetic disorder, resulting from an extra health agencies recommend the monitoring of chromosome in pair 21. (
  • A team of researchers at the Max Planck Institute for Molecular Genetics and Charité - Universitätsmedizin Berlin led by human geneticists Malte Spielmann and Stefan Mundlos analyzed clinical samples from patients with genetic developmental disorders with the Hi-C method. (
  • Achievement of final adult height consistent with a child's genetic potential remains the primary therapeutic endpoint for recombinanat human growth hormone (rhGH) therapy in the pediatric population. (
  • Analysis of protein-coding genetic variation in 60,706 humans. (
  • Formed in 1994, ACT grew from a small agricultural cloning research facility located in Worcester, Massachusetts, into a multi-locational corporation involved in using both human embryonic stem cells (hESC) and human adult stem cells as well as animal cells for therapeutic innovations. (
  • The DNA in the chromosomes is incredibly complex, yet it can be subject to accidental alterations or mutations. (
  • Mapping of the mod-1 locus on mouse chromosome-9. (
  • Her main point was that 99.9% of the 3 billion nucleotide pairs in the human genome are identical in all humans - but that the variations between persons is the other 0.1%, or 3 million SNPs (single nucleotide polymorphisms). (
  • Alternately, seizures might result from instability of the ring chromosome in some cells. (
  • A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. (
  • Bacterial DNA is usually organized into a single circular chromosome. (
  • A rare condition known as terminal deletion 14 syndrome causes signs and symptoms similar to those of ring chromosome 14 syndrome. (
  • The chromosomes of a patient with unilateral retinoblastoma, previously supposed to have a normal karyotype, were re-examined after the discovery that his red blood cells contained reduced activities of esterase D. A small sub-band deletion was found in chromosome region 13q14. (
  • ATR deletion causes chromosome axis fragmentation and germ cell elimination at mid pachynema. (
  • Different species have different numbers of chromosomes. (
  • Although this species was recently sequenced, the draft assembly covered ~70% of the genome and only half of it was anchored onto pseudomolecules 14 . (
  • Additionally, related Corynebacterium species have been found in granulomatous lobular mastitis in humans [6]. (
  • The 14 strains were found to be 100% similar, indicating genealogical homogeneity of the species [4]. (
  • each species has a pair of sex-determining chromosomes and the fox has an additional 0-8 supernumerary ('B') chromosomes. (
  • 11) Which of the following is true of a species that has a chromosome number of 2n = 16? (
  • A) The species is diploid with 32 chromosomes per cell. (
  • B) The species has 16 sets of chromosomes per cell. (
  • E) A gamete from this species has 4 chromosomes. (
  • The study of microbial communities from environment- and human-derived samples through Next Generation Sequencing (NGS) methods has revealed a vast complexity in those ecological niches where hundreds or thousands of microbial species co-inhabit and functionally interact. (
  • Although the set of species present in the human oral biofilm is almost fully depicted, new efforts have to be conducted to establish microbial agonistic or antagonistic associations, to distinguish actively-growing bacteria from inactive or transient species, as well as to outline the role of individual species during biofilm formation on tooth surfaces. (
  • The co-aggregation detected to occur between streptococci and Actinomyces species has been proposed to be a major promoter of human oral biofilm formation [ 8 ]. (
  • 9) At which stage of mitosis are chromosomes usually photographed in the preparation of a karyotype? (
  • These structural differences have made it difficult to compare fox and dog chromosomes histologically. (
  • During this talk, I will tell two such stories: 1) Structural variations in the human genome originate from different mechanisms related to DNA repair, replication, and retro-transposition. (
  • Analyses were performed to understand how chromatin organization and/or epigenome affects origin of structural variations in human genome. (
  • The use of the technique of nuclear transfer for reproduction of human beings is surrounded by strong ethical concerns and controversies and is considered a threat to human dignity. (
  • 2. Over the years, the international community has tried without success to build a consensus on an international convention against the reproductive cloning of human beings. (
  • 3. Creating awareness among ministries of health in the African Region will provide them with critical and relevant information on the reproductive cloning of human beings and its implications to the health status of the general population. (
  • 7. The WHO Regional Committee for Africa is invited to review this document for information and guidance concerning reproductive cloning of human beings. (
  • 3. Media reports on nuclear transfer are usually about one form, reproductive nuclear transfer, also known as reproductive cloning of human beings . (
  • In human beings there are 23 pairs of DNA (or 46 chromosomes). (
  • There are no unique human beings: each of us is a copy of someone who lived before right back to 250,000 years ago. (
  • Back in 1955, experts and textbooks told you that human beings have 24 pairs of chromosomes, even though there were always 23 pairs. (
  • Out of these, 22 pairs do not take part in sex-determination in human beings. (
  • For example, the rice genome project 1 took 14 years and cost several hundred million dollars. (
  • Portrayed as the Manhattan Project of the late 20th century, the Human Genome Project, or HGP, not only undertook the science of sequencing the human genome but also the ethics of it. (
  • Human molecular genetics , 9 (12), 1745-1751. (
  • American Journal of Human Genetics , 41 (1), 1-15. (
  • American journal of human genetics 2009 Jan 84 (1): 14-20. (
  • As the team led by human geneticists Stefan Mundlos and Malte Spielmann describe in the current issue of The American Journal of Human Genetics , a method from basic research could improve clinical diagnostics considerably at some point in the future. (
  • TEs play a particularly vital role in genome evolution 9 and recurringly generate adaptive phenotypes 10,11,12,13 primarily through (retro-)transposition 14 , and secondarily through ectopic recombination and aberrant transposition 15 . (
  • ATR also regulates loading of recombinases RAD51 and DMC1 to DSBs and recombination focus dynamics on synapsed and asynapsed chromosomes. (
  • Objectives: To evaluate the prognostic significance of phosphorylated Akt (p-Akt), phosphorylated mammalian target of rapamycin (p-mTOR), and total phosphatase and tensin homolog deleted on chromosome 10 (PTEN) expressions in patients undergoing adjuvant chemoradiotherapy (CRT) for proximal extrahepatic bile duct (EHBD) cancer. (
  • Human pheromones: integrating neuroendocrinology and ethology JV Kohl, M Atzmueller, B Fink… - Neuroendocrinology Letters, 2001 - The effect of sensory input on hormones is essential to any explanation of mammalian behavior, including aspects of physical attraction. (
  • The development of the human blood-CSF-brain barrier. (
  • Memory games should be paired with a healthy diet and other forms of physical exercise as well to optimize a healthy brain . (
  • Processing of Body Odor Signals by the Human Brain and the citation to Kanwisher et al (1997) The fusiform face area: a module in human extrastriate cortex specialized for face perception , which is Cited by 3165 . (
  • People with ring chromosome 14 syndrome have one copy of this abnormal chromosome in some or all of their cells. (
  • 5. In 2001, France and Germany requested the United Nations General Assembly to develop international conventions on human reproductive cloning, therapeutic cloning and research on stem cells. (
  • A human being is made up of an enormous number of cells, and inside every single cell, there's the nucleus. (
  • Additionally, the subcellular localization of mouse THEG wasconfirmed by a green fluorescent protein (GFP) fusion protein of mouseTHEG which was found mainly in the nucleus of transfected NIH3T3 cells.These data suggest that both human and mouse THEG are specificallyexpressed in the nucleus of haploid male germ cells and are involved inthe regulation of nuclear functions. (
  • The duplication of chromosome 1 and 15 were associated with the ability of cells to invade a gel matrix. (
  • ChIP assays were performed using human HeLa cells, the Diagenode antibody against H4K20me3 (Cat. (
  • In an adult human being, if the number of cells is round about 10 13 , then the total length of DNA would extend from the earth to the sun 100 times. (
  • Organoids from human pluripotent cells can be used to model cerebral cortical development. (
  • Two copies of chromosome 14, one copy inherited from each parent, form one of the pairs. (
  • Loss of entire copies of chromosomes 7, 8, and 14 were significant in the primary tumor cell cultures. (
  • While all DNA is stained blue, a specific sequence stained pink appears duplicated in one of the two copies of chromosome 17, but not the other. (
  • Loss of the distal portion and duplication of the proximal region of chromosome 4 were observed in the primary tumor cell cultures. (
  • Smoking dysregulates the human airway basal cell transcriptome at COPD risk locus 19q13.2. (
  • Thus we have the source domain of SYMBOL LIFE and thought that may get a mathematical-physics mapping to the destination range of physical biology with human proper nouns, human activities, etc on the geography surface of EARTH. (
  • Mapping with FISH and CGH array further narrowed the region of duplication of chromosome 1 to five centimorgans. (
  • Linkage studies have mapped loci for diabetic nephropathy and associated phenotypes on chromosome 3q. (
  • Analysis of somatic mutational patterns is a powerful tool for understanding the etiology of human cancers [ 1 ]. (
  • Melanomas are among the most common cancers in human and their incidences continue to rise at a pace faster than any other malignancy [ 10 ]. (
  • Epilepsy is a common feature of ring chromosome syndromes, including ring chromosome 14. (
  • These same linkage groups are altered in human lung cancer. (
  • The alteration of the same linkage groups in mouse and human indicates that the mouse is a valid model for human lung adenocarcinoma. (
  • 1996), Karyotyping Human Chromosomes by Combinatorial Multi-fluor FISH, Nature Genet. (
  • Relevant of mutagenicity and clastogenici- angiosarcomas of the liver, which carcinogens discussed in this chap- ty, including the induction of sister are rare tumours, were identified in ter do not include pharmaceutical chromatid exchange (SCE), chro- humans, rats, and mice exposed to drugs classified in Group 1, which mosomal aberrations (CA), and mi- vinyl chloride. (
  • We analyzed prevalence and mortality of tracheobronchitis in patients with CAPA.Methods: We conducted a retrospective, single-centre study at the 14-bed intensive care unit (ICU) of the Department I of Internal Medicine of the University Hospital of Cologne, Germany from March 2020 to February 2021. (
  • To reconstruct pseudomolecules of chromosomes, the assembled contigs/scaffolds have to be assigned according to the order of the marker loci. (
  • Chromosomes stained with fluorescence dyes under the microscope. (
  • A) In humans, each of the 22 maternal autosomes has a homologous paternal chromosome. (
  • These analyses are fundamental in the design of control specimens present C-heterochromatic blocks in most of campaigns because their results will help determine the their 22 chromosomes, whereas non-Andean specimens have only 4-7 autosomes with C-banding. (
  • pairs of autosomes and 1 pair of sex chromosomes (XY in Institut de Recherche pour le Développement, Montpellier, males, XX in females) (8). (
  • The fourth cDNA clone, c13, whose homeo box is ~73% homologous to the Hox-2.2 homeo box sequence, is located at chromosome region 2q31→q37. (
  • CCG repeats are highly over-represented in exons of the human genome. (
  • icologic and metabolic data that explain the nasal and major differences are 4- to 10-fold more ring-oxidation lung differences and their relevance for human risk and phenylacetaldehyde pathways in mice compared assessment. (
  • been reported to cause disease mainly among eels and Biotype 1 strains (n = 82) consisted of 39 isolates from rarely infect humans (9). (
  • A study from the University of Oxford, which was recently presented at the annual meeting of the European Society of Human Reproduction and Embryology in Helsinki, suggested that screening embryos for their levels of mitochondrial DNA could help doctors select those that are most likely to result in a healthy pregnancy. (
  • She gave a really interesting presentation with excellent graphics slides showing elements of DNA, an excellent explanation of how the Y-chromosome (for males) and mitochondrial DNA (for males and females) can be used in genealogy and anthropology research. (
  • Do all humans have the same mitochondrial DNA? (
  • Additionally, we found two alternativelyspliced transcripts (THEG major and THEG minor) for THEG by using reversetranscription-polymerase chain reaction on human testicular RNA. (
  • To take one example, haemoglobin (that's a molecule found in blood) has over 300 known mutants, yet not one has turned out to be helpful for human survival. (
  • While mitochondria is having only one chromosome and mitochondria is not found in sperm. (
  • One of these complex communities is that found in the human oral dental plaque (hereinafter, human oral biofilm). (
  • It has adapted rather well to the increasing human population, and is often found around well-wooded suburbs and even large city parks. (
  • In fact, all studies investigating the processing of natural complex human chemosignals found neuronal networks involved , which are specialized for the processing of social rather than olfactory information. (
  • We describe a near-complete human skeleton with an intact cranium and preserved DNA found with extinct fauna in a submerged cave on Mexico's Yucatan Peninsula. (
  • To check this hypothesis, we evaluated the appearance of aswell as miR-146a-5p and miR-146b-5p in 48 PTC tumor/regular tissues pairs by Taqman assay to reveal which the appearance of was 3.28-fold reduced, and miR-146b-5p was 28.9-fold improved in PTC tumors. (
  • PDF file related to telomere lengthening in humans, and natural product telomerase activators, written by Phillip A Micans, MS, PharmB 44-208-123-2106 Menu . (
  • or each of these agents, carcinogenicity in rats and/or mice, els, differences in exposure con- there was sufficient evidence of car- for example for the liver (aflatoxins, ditions between studies in animals cinogenicity from studies in rats and/ trichloroethylene [TCE], and vinyl and in humans, or limitations in Part 1 · Chapter 1. (
  • Chromosomes, Human, Pair 19" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (