Chromosomes human pair 17. Medical search

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 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.

Comparative molecular genetic profiles of anaplastic astrocytomas/glioblastomas multiforme and their subsequent recurrences. (1/1744)

Malignant glial tumors (anaplastic astrocytomas and glioblastomas multiforme) arise mostly either from the progression of low grade precursor lesions or rapidly in a de novo fashion and contain distinct genetic alterations. There is, however, a third subset of malignant gliomas in which genetic lesions remain to be identified. Following surgical resection, all gliomas appear to have an inherent tendency to recur. Comparative molecular analysis of ten primary malignant gliomas (three anaplastic astrocytomas and seven glioblastomas multiforme) with their recurrences identified two distinct subgroups of recurrent tumors. In one group, primary tumors harbored genetic aberrations frequently associated with linear progression or de novo formation pathways of glial tumorigenesis and maintained their genetic profiles upon recurrence. In the other subset with no detectable known genetic mutations at first presentation, the recurrent tumors sustained specific abnormalities associated with pathways of linear progression or de novo formation. These included loss of genes on chromosomes 17 and 10, mutations in the p53 gene, homozygous deletion of the DMBTA1 and p16 and/ or p15 genes and amplification and/or overexpression of CDK4 and alpha form of the PDGF receptor. Recurrent tumors from both groups also displayed an abnormal expression profile of the metalloproteinase, gel A, and its inhibitor, TIMP-2, consistent with their highly invasive behavior. Delineation of the molecular differences between malignant glioblastomas and their subsequent recurrences may have important implications for the development of rational clinical approaches for this neoplasm that remains refractory to existing therapeutic modalities. (+info)

Leukemia translocation protein PLZF inhibits cell growth and expression of cyclin A. (2/1744)

The PLZF gene was identified by its fusion with the RARalpha locus in a therapy resistant form of acute promyelocytic leukemia (APL) associated with the t(11;17)(q23;q21) translocation. Here we describe PLZF as a negative regulator of cell cycle progression ultimately leading to growth suppression. PLZF can bind and repress the cyclin A2 promoter while expression of cyclin A2 reverts the growth suppressed phenotype of myeloid cells expressing PLZF. In contrast RARalpha-PLZF, a fusion protein generated in t(11;17)(q23;q21)-APL activates cyclin A2 transcription and allows expression of cyclin A in anchorage-deprived NIH3T3 cells. Therefore, cyclin A2 is a candidate target gene for PLZF and inhibition of cyclin A expression may contribute to the growth suppressive properties of PLZF. Deregulation of cyclin A2 by RARalpha-PLZF may represent an oncogenic mechanism of this chimeric protein and contribute to the aggressive clinical phenotype of t(11;17)(q23;q21)-associated APL. (+info)

Multiple target sites of allelic imbalance on chromosome 17 in Barrett's oesophageal cancer. (3/1744)

Twelve Barrett's adenocarcinomas have been analysed for the occurrence of allelic imbalance (LOH) on chromosome 17 using 41 microsatellite markers. This study provides evidence for 13 minimal regions of LOH, six on 17p and seven on 17q. Four of these centre in the vicinity of the known tumour suppressor genes (TSGs) TP53 (17p13.1), NFI (17q11.2), BRCA1 (17q21.1), and a putative TSG (17p13.3). The tumours all displayed relatively small regions of LOH (1-10 cM), and in several tumours extensive regions of LOH were detected. One tumour displayed only two very small regions of LOH; 17p11.2 and 17p13.1. The frequency of allelic imbalance has been calculated based on the LOH encompassing only one minimal region, and based on all the LOH observations. By both evaluations the highest LOH frequencies were found for regions II (p53), III (17p13.1 centromeric to p53), IV (17p12), V (17p11.2) and VII (NF1, 17q11.2). Our data supports the existence of multiple TSGs on chromosome 17 and challenges the view that p53 is the sole target of LOH on 17p in Barrett's adenocarcinoma. (+info)

Correlation between the status of the p53 gene and survival in patients with stage I non-small cell lung carcinoma. (4/1744)

The association of p53 abnormalities with the prognosis of patients with non-small cell lung carcinoma (NSCLC) has been extensively investigated to date, however, this association is still controversial. Therefore, we investigated the prognostic significance of p53 mutations through exons 2 to 11 and p53 protein expression in 103 cases of stage I NSCLC. p53 mutations were detected in 49 of 103 (48%) tumors. Two separate mutations were detected in four tumors giving a total of 53 unique mutations in 49 tumors. Ten (19%) of mutations occurred outside exons 5-8. Positive immunohistochemical staining of p53 protein was detected in 41 of 103 (40%) tumors. The concordance rate between mutations and protein overexpression was only 69%. p53 mutations, but not expression, were significantly associated with a shortened survival of patients (P<0.001). Furthermore, we investigated the correlation between the types of p53 mutations and prognosis. p53 missense mutations rather than null mutations were associated with poor prognosis (P < 0.001 in missense mutations and P=0.243 in null mutations). These results indicated that p53 mutations, in particular missense mutations, rather than p53 expression could be a useful molecular marker for the prognosis of patients with surgically resected stage I NSCLC. (+info)

Retinoic acid, but not arsenic trioxide, degrades the PLZF/RARalpha fusion protein, without inducing terminal differentiation or apoptosis, in a RA-therapy resistant t(11;17)(q23;q21) APL patient. (5/1744)

Primary blasts of a t(11;17)(q23;q21) acute promyelocytic leukaemia (APL) patient were analysed with respect to retinoic acid (RA) and arsenic trioxide (As2O3) sensitivity as well as PLZF/RARalpha status. Although RA induced partial monocytic differentiation ex vivo, but not in vivo, As203 failed to induce apoptosis in culture, contrasting with t(15;17) APL and arguing against the clinical use of As203 in t(11;17)(q23;q21) APL. Prior to cell culture, PLZF/RARalpha was found to exactly co-localize with PML onto PML nuclear bodies. However upon cell culture, it quickly shifted towards microspeckles, its localization found in transfection experiments. Arsenic trioxide, known to induce aggregation of PML nuclear bodies, left the microspeckled PLZF/RARalpha localization completely unaffected. RA treatment led to PLZF/RARalpha degradation. However, this complete PLZF/RARalpha degradation was not accompanied by differentiation or apoptosis, which could suggest a contribution of the reciprocal RARalpha/PLZF fusion product in leukaemogenesis or the existence of irreversible changes induced by the chimera. (+info)

High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (6/1744)

Previously, we assigned the genes for two autosomal recessive disorders, Meckel syndrome (MKS; MIM 249000) and Mulibrey Nanism [MUL (muscle-liver-brain-eye Nanism); MIM 253250] that are enriched in the Finnish population, to overlapping genomic regions on chromosome 17q. Now, we report the construction of a bacterial clone contig over the critical region for both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping of the MKS and MUL loci using haplotype and linkage disequilibrium analysis. The localization of the MKS locus was narrowed to <1 cM between markers D17S1290 and 132-CA, within an approximately 800-kb region. The MUL locus was refined into an approximately 1400-kb interval between markers D17S1290 and 52-CA. The whole MKS region falls within the MUL region. In the common critical region, the conserved haplotypes were different in MKS and MUL patients. A trancript map was constructed by assigning expressed sequence tags (ESTs) and genes, derived from the human gene map, to the bacterial clone contig. Altogether, four genes and a total of 20 ESTs were precisely localized. These data provide the molecular tools for the final identification of the MKS and the MUL genes. (+info)

A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. (7/1744)

Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by an abnormal susceptibility to infection with a specific group of related human papillomavirus (HPV) genotypes, including the oncogenic HPV5 associated with the skin carcinomas developing in about half of EV patients. EV is usually considered as an autosomal recessive condition. Taking EV as a model to identify a locus underlying the susceptibility to HPV infections, we performed a genome-wide search for linkage with 255 microsatellite genetic markers in three consanguineous EV families comprising six patients, using the homozygosity mapping approach. Homozygosity restricted to affected individuals was observed for a marker of chromosome 17q (D17S784) in two families and a marker about 17 centiMorgan (cM) distal (D17S1807) in the third family. Ten additional microsatellite markers spanning 29 cM in this region were analyzed. Two-point lod score values greater than 3 were obtained for four markers and multipoint linkage analysis yielded a maximum lod score of 10.17 between markers D17S939 and D17S802. Recombination events observed in two families allowed a candidate region for the EV susceptibility locus to be mapped to the 1 cM region defined by these two markers. The EV locus (named EV1) is included in the 17qter region recently found to contain a dominant locus for the susceptibility to familial psoriasis. It has been shown that patients suffering from psoriasis are likely to constitute the reservoir of HPV5. It is thus tempting to speculate that distinct defects affecting the same gene may be involved in the two skin conditions. (+info)

Localization of PS6K to chromosomal region 17q23 and determination of its amplification in breast cancer. (8/1744)

The application of comparative genomic hybridization to the analysis of genetic abnormalities in breast carcinoma has consistently revealed that chromosome region 17q22-24 is a frequent site of gene amplification in this type of cancer. As part of an examination of expressed sequence tags for novel amplified genes in this region, we identified PS6K amplifications in both breast tumor tissues and cell lines. PS6K was localized to 17q23 and encodes a serine-threonine kinase whose activation is thought to regulate a wide array of cellular processes involved in the mitogenic response including protein synthesis, translation of specific mRNA species, and cell cycle progression from G1 to S phase. Northern and Western analyses revealed that amplification of this gene was accompanied by corresponding increases in mRNA and protein expression, respectively. These data represent the first determination of a gene amplification within 17q22-24 in breast cancer and suggest an oncogenic activity for PS6K. (+info)

Gilbert F (1998). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 17". Genet Test. 2 (4): 357-81. ... Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 17: entries, gene ... The following is a partial list of genes on human chromosome 17. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 17. Because researchers use different approaches to ...

https://en.wikipedia.org/wiki/Chromosome_17

The human gene CCDC37 is found on chromosome 3 at the band 3q21.3. It extends from base pairs 90,403,731 to 90,429,231, making ... There is only one paralog for CCDC37 found in humans, CCDC38. CCDC38 is located on chromosome 12. The ortholog space of CCDC37 ... Coiled-coil domain-containing 37, also known as FLJ40083, is a protein that in humans is encoded by the CCDC37 gene (3q21.3). ... "CCDC38 coiled-coil domain containing 38 [Homo sapiens (human)] - Gene". Ncbi.nlm.nih.gov. Retrieved 2015-03-07. Dinkel, H. The ...

https://en.wikipedia.org/wiki/Coiled-coil_domain-containing_37_(FLJ40083)

In humans common polymorphisms include the following: Rs6259, also called Asp327Asn location 7633209 on Chromosome 17, results ... Rs727428 position 7634474 is in several percent of humans. (TAAAA)(n) is five base pairs that repeats a variable number of ... Genes on human chromosome 17, Protein pages needing a picture, Human gene pages with Wikidata item, Wikipedia articles needing ... Hryb DJ, Nakhla AM, Kahn SM, St George J, Levy NC, Romas NA, Rosner W (July 2002). "Sex hormone-binding globulin in the human ...

https://en.wikipedia.org/wiki/Sex_hormone-binding_globulin

Humans have a 163,255 base pair long gene coding sequence, 4703 base pair long mRNA, and 496 amino acid long protein sequence. ... TMEM104 is located on human chromosome 17 at the locus 17q25.1. TMEM104 is located between the genes NAT9 and GRIN2C. There are ... In most human tissues, TMEM104 has a modest expression level (25-50th percentile), relative to all human proteins, according to ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 17, Uncharacterized ...

https://en.wikipedia.org/wiki/TMEM104

The name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The ... Isoform 1 is encoded by a mRNA sequence that is 1920 base pairs in length. Isoform 2 derives from a mRNA sequence of 1678 base ... There are no known paralogs of this gene in humans. "C17orf78 chromosome 17 open reading frame 78 [Homo sapiens (human)] - Gene ... C17orf78 (Chromosome 17 Open Reading Frame 78) is found on the long arm cytogenetic band 17q12. The genomic sequence spans from ...

https://en.wikipedia.org/wiki/C17orf78

Schäfer BW, Mattei MG (July 1993). "The human paired domain gene PAX7 (Hup1) maps to chromosome 1p35-1p36.2". Genomics. 17 (1 ... Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene. Pax-7 plays a role in neural crest ... "PAX7 - Paired box protein Pax-7 - Homo sapiens (Human) - PAX7 gene & protein". Aloisio, Gina M.; Nakada, Yuji; Saatcioglu, ... Pilz AJ, Povey S, Gruss P, Abbott CM (March 1993). "Mapping of the human homologs of the murine paired-box-containing genes". ...

https://en.wikipedia.org/wiki/PAX7

... is a human oncogene (gene symbol PSMC3IP, alias TBPIP or Hop2) located within the BRCA1 locus at chromosome 17q21. It ... GT198 spans 5.5 kilobase pairs (Kb) and contains eight exons. GT198 is located 470 Kb proximal to BRCA1 and 2.9 megabase pairs ... GT198 is located at the long arm of human chromosome 17 (17q21). ... In human breast cancer, GT198 is a marker for mutant tumor ... The mouse, and human GT198 gene, were subsequently described. GT198 has protein isoforms as splice variants encoded by at least ...

https://en.wikipedia.org/wiki/GT198

Humans have 23 pairs of chromosomes and other great apes have 24 pairs of chromosomes. In the human evolutionary lineage, two ... Human and chimpanzee chromosomes are very alike. The primary difference is that humans have one fewer pair of chromosomes than ... Wikiversity has learning resources about Chimpanzee Genome Project Human evolutionary genetics Human chromosome 2 Human Genome ... producing human chromosome 2. There are nine other major chromosomal differences between chimpanzees and humans: chromosome ...

https://en.wikipedia.org/wiki/Chimpanzee_genome_project

Genes on human chromosome 17). ... Its mRNA sequence is 2850 base pairs in length and includes 2 ... "Human BLAT Search". genome.ucsc.edu. Retrieved 2020-12-19. (CS1 maint: url-status, All articles with dead external links, ... 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10- and 20-weeks gestational time were ... According to DNA microarray data, it is found in at least 15 tissues.[citation needed] In humans, the RNF227 gene is found on ...

https://en.wikipedia.org/wiki/RNF227

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 ... 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. ...

https://en.wikipedia.org/wiki/TMEM98

The CTNS gene is located on the p arm of human chromosome 17, at position 13.2. It spans base pairs 3,636,468 and 3,661,542, ... The most common mutation is a 57,257 base pair deletion commonly referred to as the 57 kb deletion. This was formally known as ... Human models for cystinosin are typically derived from cystinotic renal tubular cell lines. Non-human protein homologs for ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 17). ...

https://en.wikipedia.org/wiki/CTNS_(gene)

In humans, lactoferrin gene LTF is located on the third chromosome in the locus 3q21-q23. In oxen, the coding sequence consists ... insertions and mutations of stop codons affect the coding part and its length varies between 2,055 and 2,190 nucleotide pairs. ... CS1: long volume value, Articles with short description, Short description matches Wikidata, Genes on human chromosome 3, ... Human colostrum ("first milk") has the highest concentration, followed by human milk, then cow milk (150 mg/L). Lactoferrin is ...

https://en.wikipedia.org/wiki/Lactoferrin

... (chromosome 4 open reading frame 36) is a protein that in humans is encoded by the c4orf36 gene. C4orf36 (also referred ... The promoter for transcript variant 1 (GXP_263623) spans the base pairs 86892213-86893422 on chromosome 4. C4orf36 encodes a ... "C4orf36 chromosome 4 open reading frame 36 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-12-18. " ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 4). ...

https://en.wikipedia.org/wiki/C4orf36

... is located at 15q11.2 on chromosome 15 in humans and is transcribed from the reverse DNA strand. POTEB is also known as ... The POTEB gene is 47,547 base pairs in length and is composed of 11 exons. The POTEB gene can be transcribed to create four ... POTEB has 8 predicted paralogs (According to protein sequence) in humans, with most paralogs being located on different human ... "Selective POTE paralogs on chromosome 2 are expressed in human embryonic stem cells". Stem Cells and Development. 17 (2): 325- ...

https://en.wikipedia.org/wiki/POTEB

... spans 4,200 base pairs from 35,760,897 to 35,765,079. In humans, this gene encodes a protein that is 174 amino acids ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 17). ... Uncharacterized protein C17orf50 is a protein which in humans is encoded by the C17orf50 gene. The gene is located on the long ... "C17orf50 chromosome 17 open reading frame 50 [ Homo sapiens (human) ]". NCBI. US National Library of Medicine. Retrieved 25 ...

https://en.wikipedia.org/wiki/C17orf50

Genes on human chromosome, Wikipedia articles that are too technical from May 2017, All articles that are too technical, Genes ... The gene is 78,510 base pairs long with 21 exons. There are currently no aliases for FAM227A. There are two isoforms of FAM227A ... Chromosome 22 was chosen based on the results of the data collected from three clinical visits at the Framingham Heart Study. ... FAM227A is found on chromosome 22 at the location 22q13.1. It is flanked by the gene LOC105373031 on the left and CBY1 on the ...

https://en.wikipedia.org/wiki/FAM227a

Genes on human chromosome 19, Wikipedia articles incorporating text from the United States National Library of Medicine, Human ... The NDUFA13 gene is located on the p arm of chromosome 19 in position 13.2 and spans 11,995 base pairs. The gene produces a 17 ... The human NDUFA13 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ... NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 is an enzyme that in humans is encoded by the NDUFA13 gene. The ...

https://en.wikipedia.org/wiki/NDUFA13

... from base pair 119,022,962 to base pair 119,031,270 (Build GRCm38/mm10). Human homolog of M33, Chromobox homolog 2 (CBX2 ) is ... but it is enriched within the centromeric heterochromatin of metaphase chromosomes. In mice, the official symbol of M33 gene ... from base pair 79,777,188 to base pair 79,787,650(Build GRCh38.p2). This protein contains Chromo (CHRromatin Organization ... In human ortholog CBX2, synonyms CDCA6, M33, SRXY5 from orthology source HGNC. M33 was isolated by means of the structural ...

https://en.wikipedia.org/wiki/M33_(gene)

Articles with short description, Short description matches Wikidata, Genes on human chromosome). ... "Genetic variations in the receptor-ligand pair CCR5 and CCL3L1 are important determinants of susceptibility to Kawasaki disease ... "Nucleotide sequence of the third cytokine LD78 gene and mapping of all three LD78 gene loci to human chromosome 17". DNA ... "Nucleotide sequence of the third cytokine LD78 gene and mapping of all three LD78 gene loci to human chromosome 17". DNA ...

https://en.wikipedia.org/wiki/CCL3L1

Human gene pages with Wikidata item, All stub articles, Human chromosome 17 gene stubs, Proteins). ... The gene has a size of 5961 base pairs and contains five exons. PRR29 is located on the long arm of chromosome 17 (17q23.3), ... "C21orf58 chromosome 21 open reading frame 58 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-04-28 ... PRR29 (proline-rich protein 29) is a protein encoded by the PRR29 gene located in humans on chromosome 17 at 17q23. Its ...

https://en.wikipedia.org/wiki/PRR29

Some sources claim its true size is around 3.5 billion base pairs (slightly larger than the human genome). The plant was first ... The sunflower genome is diploid with a base chromosome number of 17 and an estimated genome size of 2,871-3,189 million base ... "Parastichy pair(13:21) of CYCAS REVOLUTA (male) florets_WebCite". Archived from the original on October 3, 2009. Vogel, H. ( ... 17 November 2012. "Production of sunflower seeds in 2020, Crops/Regions/World list/Production Quantity (pick lists)". UN Food ...

https://en.wikipedia.org/wiki/Common_sunflower

... gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 17, All stub articles, ... "The gene encoding the immunoregulatory signaling molecule CMRF-35A localized to human chromosome 17 in close proximity to other ... CMRF35-like molecule 6 (CLM-6) also known as CD300 antigen-like family member C (CD300c) is a protein that in humans is encoded ...

https://en.wikipedia.org/wiki/CD300C

... gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 17, Wikipedia articles ... CD300A+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) CD300a, Bernholtz - The Possible ... Alvarez Y, Tang X, Coligan JE, Borrego F (2007). "The CD300a (IRp60) inhibitory receptor is rapidly up-regulated on human ...

https://en.wikipedia.org/wiki/CD300A

The SDHD gene is located on chromosome 11 at locus 11q23 and it spans 8,978 base pairs. There are pseudogenes for this gene on ... Genes on human chromosome 11, Wikipedia articles incorporating text from the United States National Library of Medicine, Tumor ... "A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter". Human ... GeneCards Human Gene Database. Retrieved 30 July 2018. Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, ...

https://en.wikipedia.org/wiki/SDHD

The COX5A gene, located on the q arm of chromosome 15 in position 24.1, is made up of 5 exons and is 17,880 base pairs in ... Genes on human chromosome 15, Wikipedia articles incorporating text from the United States National Library of Medicine, ... Cytochrome c oxidase subunit 5a is a protein that in humans is encoded by the COX5A gene. Cytochrome c oxidase 5A is a subunit ... Human COX5A genome location and COX5A gene details page in the UCSC Genome Browser. Mass spectrometry characterization of COX5A ...

https://en.wikipedia.org/wiki/COX5A

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, ...

https://en.wikipedia.org/wiki/CCDC47

from base pair 8,120,590 to 8,126,032. In mice, HES7 is located on chromosome 11. HES7 has 62 known orthologues. The HES7 gene ... The gene that encodes the human HES7 protein is 5kb long and is found on chromosome 17, on the short arm at position 13.1. ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 17, Transcription factors). ... Both the human and the mouse protein have been shown to contain 225 amino acids and feature an orange domain as well as a ...

https://en.wikipedia.org/wiki/HES7_gene

"Sex chromosome transformation and the origin of a male-specific X chromosome in the creeping vole". Science. 372 (6542): 592- ... A mating pair can produce a hundred more voles in a year. Voles outwardly resemble several other small animals. Moles, gophers ... This type of empathetic behavior has previously been thought to occur only in animals with advanced cognition such as humans, ... Physiologically, pair-bonding behavior has been shown to be connected to vasopressin, dopamine, and oxytocin levels, with the ...

https://en.wikipedia.org/wiki/Vole

Genes on human chromosome 17, Wikipedia articles incorporating text from the United States National Library of Medicine, Solute ... The SLC25A10 gene is located on the q arm of chromosome 17 in position 25.3 and spans 8,781 base pairs. The gene has 11 exons ... Pannone E, Fiermonte G, Dolce V, Rocchi M, Palmieri F (Mar 1999). "Assignment of the human dicarboxylate carrier gene (DIC) to ... The mitochondrial dicarboxylate carrier (DIC) is an integral membrane protein encoded by the SLC25A10 gene in humans that ...

https://en.wikipedia.org/wiki/Mitochondrial_dicarboxylate_carrier

... is a protein that in humans is encoded by the KRBA1 gene. It is located on the plus strand of chromosome 7 from ... The domain of function is the KRBA box which is predicted to start at base pair 7 and end at base pair 47. For motifs there was ... In humans, this gene is ubiquitously expressed at a fairly low level, approximately 0.6 times the expression of the average ... "KRBA1 protein (human) - STRING interaction network". version11.string-db.org. Retrieved 2020-05-02. Li Z, Wang D, Na X, Schoen ...

https://en.wikipedia.org/wiki/KRBA1

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 ...

https://en.wikipedia.org/wiki/Uridine_monophosphate_synthase

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). ...

https://en.wikipedia.org/wiki/TENM3

number of base pairs = mass in pg × 9.78 × 10 8 {\displaystyle {\text{number of base pairs}}={\text{mass in pg}}\times 9.78\ ... These species have become a considerable threat to human health, as they are often capable of evading human immune systems and ... I. DNA-content and chromosome sets in various species of Cyprinidae". Humangenetik. 7 (3): 240-244. doi:10.1007/BF00273173. ... or as the total number of nucleotide base pairs, usually in megabases (millions of base pairs, abbreviated Mb or Mbp). One ...

https://en.wikipedia.org/wiki/Genome_size

"Gene promoters show chromosome-specificity and reveal chromosome territories in humans". BMC Genomics. 14 (278): 278. doi: ... These pairs of promoters can be positioned in divergent, tandem, and convergent directions. They can also be regulated by ... Furthermore, in humans, promoters show certain structural features characteristic for each chromosome. In bacteria, the ... "Prevalence of the initiator over the TATA box in human and yeast genes and identification of DNA motifs enriched in human TATA- ...

https://en.wikipedia.org/wiki/Promoter_(genetics)

This sequencing revealed that the human mtDNA includes 16,569 base pairs and encodes 13 proteins. Since animal mtDNA evolves ... Medusozoa and calcarea clades however have species with linear mitochondrial chromosomes. In terms of base pairs, the anemone ... HVR1, for example, consists of about 440 base pairs. These 440 base pairs are compared to the same regions of other individuals ... Human mitochondrial DNA was the first significant part of the human genome to be sequenced. ...

https://en.wikipedia.org/wiki/Mitochondrial_DNA

"The SON gene encodes a conserved DNA binding protein mapping to human chromosome 21". Annals of Human Genetics. 58 (1): 25-34. ... Many individuals with ZTTK syndrome have identified heterozygosity for a de novo 4-base pair deletion, de novo mutation in exon ... and CRF2-4 genes cluster on human Chromosome 21 and mouse Chromosome 16". Mammalian Genome. 4 (6): 338-342. doi:10.1007/ ... Human embryonic stem cells (hESCs) are able to undergo lineage-specific differentiation into specific types of cells, known as ...

https://en.wikipedia.org/wiki/ZTTK_syndrome

During the process of mitosis the pairs of chromosomes condense and attach to microtubules that pull the sister chromatids to ... Many human cancers possess the hyper-activated Cdk 4/6 activities. Given the observations of cyclin D-Cdk 4/6 functions, ... Cell Cycle, Chromosomes and Cancer. Vol. 15. Miami Beach, FL: University of Miami School of Medicine. Alter O, Golub GH ( ... In this checkpoint, the cell checks to ensure that the spindle has formed and that all of the chromosomes are aligned at the ...

https://en.wikipedia.org/wiki/Cell_cycle

For this sample, a better estimate would be that 95% of the base pairs are exactly shared between chimpanzee and human DNA." ... April 2015). "A recent bottleneck of Y chromosome diversity coincides with a global change in culture". Genome Research. 25 (4 ... Evolutionary biology portal Evolution of human intelligence Graphical timeline of the universe Human evolution Recent human ... The timeline of human evolution outlines the major events in the evolutionary lineage of the modern human species, Homo sapiens ...

https://en.wikipedia.org/wiki/Timeline_of_human_evolution

The paper examined the global distribution of SINEs in mouse and human chromosomes and determined that this distribution was ... SINEs have 50-500 base pair internal regions which contain a tRNA-derived segment with A and B boxes that serve as an internal ... often leading to disease phenotypes in humans and other animals. Insertion of Alu elements in the human genome is associated ... There are >50 human diseases associated with SINEs. When inserted near or within the exon, SINEs can cause improper splicing, ...

https://en.wikipedia.org/wiki/Short_interspersed_nuclear_element

... is a protein that in humans is encoded by the KRT16 gene. Keratin 16 is a type I cytokeratin. It is paired with ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 17, Keratins, All stub ... "A group of type I keratin genes on human chromosome 17: characterization and expression". Mol. Cell. Biol. 8 (2): 722-36. doi: ... "Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12". Cytogenet. Cell Genet. 57 (1): 33- ...

https://en.wikipedia.org/wiki/Keratin_16

By pairing chromosomes of similar genomes, the chance for these recessive alleles to pair and become homozygous greatly ... By analogy, the term is used in human reproduction, but more commonly refers to the genetic disorders and other consequences ... Thus, the likelihood of deleterious recessive alleles to pair is significantly higher in a small inbreeding population than in ... ISBN 978-3-540-37654-5. Ober C, Hyslop T, Hauck WW (January 1999). "Inbreeding effects on fertility in humans: evidence for ...

https://en.wikipedia.org/wiki/Inbreeding

Genes on human chromosome 2, Protein pages needing a picture, Genes on human chromosome 15, Genes on human chromosome 20, Genes ... The lone pair of electrons moves down kicking off the lone pairs that were making the double bond. This lone pair of electrons ... Mtb ICDH-1 is most structurally similar to the R132H mutant human ICDH found in glioblastomas. Similar to human R132H ICDH, Mtb ... In humans, IDH exists in three isoforms: IDH3 catalyzes the third step of the citric acid cycle while converting NAD+ to NADH ...

https://en.wikipedia.org/wiki/Isocitrate_dehydrogenase

The two pairs of membranous wings are held together by small hooks and the forewings are larger than the hind ones; in some ... Males, called drones, have a haploid (n) number of chromosomes and develop from an unfertilized egg. Wasps store sperm inside ... the existing workers search for sugary foods and are more likely to come into contact with humans. Wasp nests made in or near ... Females are diploid, meaning that they have 2n chromosomes and develop from fertilized eggs. ...

https://en.wikipedia.org/wiki/Wasp

This breakthrough helped further relate OCD in humans to CCD in canines. Canine chromosome 7 is expressed in the hippocampus of ... Rats became significantly more tolerant to morphine when they had been exposed to a paired administration than those rats that ... A chromosome has been located in dogs that confers a high risk of susceptibility to OCD. Canine chromosome 7 has been found to ... It can be difficult to attribute human conditions to non-human animals. Obsessive-compulsive behavior in animals, often called ...

https://en.wikipedia.org/wiki/Animal_psychopathology

v t e (Genes on human chromosome 13, Collagens, All stub articles, Human chromosome 13 gene stubs). ... this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common ... Collagen alpha-2(IV) chain is a protein that in humans is encoded by the COL4A2 gene. This gene encodes one of the six subunits ... Pöschl E, Pollner R, Kühn K (1988). "The genes for the alpha 1(IV) and alpha 2(IV) chains of human basement membrane collagen ...

https://en.wikipedia.org/wiki/Collagen,_type_IV,_alpha_2

Weak identity between chromosomes results in meiotic pairing that yields only two possible genotypes of sperm, X1X2X3X4X5 or ... This similarity to primates and humans allows it to see distant objects clearly. Unlike placental mammals, including humans, ... for humans. This part of the brain in humans is thought to be used for planning and analytical behaviour, leading to debate as ... in which males have four Y chromosomes and five X chromosomes. Males appear to be X1Y1X2Y2X3Y3X4Y4X5 (figure), while females ...

https://en.wikipedia.org/wiki/Short-beaked_echidna

For example, in humans, females (XX) silence the transcription of one X chromosome of each pair, and transcribe all information ... of the Y chromosome during meiosis. Additionally, 10-25% of human X chromosome genes, and 3-7% of mouse X chromosome genes ... Specifically, platypus X1 shares homology with the chicken Z chromosome, and both share homology with the human chromosome 9. ... smaller W chromosome. Instead of silencing the entire chromosome as humans do, male chickens (the model ZZ organism) seem to ...

https://en.wikipedia.org/wiki/Sex-chromosome_dosage_compensation

Since each centrosome has a K fiber connecting to each pair of chromosomes, the chromosomes become tethered in the middle of ... "The Human Protein Atlas". www.proteinatlas.org. Archived from the original on 2017-05-01. Retrieved 2017-04-27. Hirokawa N, ... As the K fibers shorten the pair chromosomes are pulled apart right before cytokinesis. Previously, some researchers believed ... For example, +TIPs have been observed to participate in the interactions of microtubules with chromosomes during mitosis. The ...

https://en.wikipedia.org/wiki/Microtubule

For instance, human and chimpanzee chromosomes are very similar and FISH can demonstrate that two chimpanzee chromosomes fused ... Each probe for the detection of mRNA and lncRNA is composed of ~20-50 oligonucleotide pairs, each pair covering a space of 40- ... so each human chromosome can be identified by a characteristic color using whole-chromosome probe mixtures and a variety of ... have similar chromosomes but with increasing distance chromosomes tend to break and fuse and thus result in mosaic chromosomes ...

https://en.wikipedia.org/wiki/Fluorescence_in_situ_hybridization

Genes on human chromosome 17, Wikipedia articles incorporating text from the United States National Library of Medicine, All ... which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational ... Yang X, Yin J, Yu J, Xiang Q, Liu Y, Tang S, Liao D, Zhu B, Zu X, Tang H, Lei X (January 2012). "miRNA-195 sensitizes human ... MicroRNA 195 is a protein that in humans is encoded by the MIR195 gene. microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs ...

https://en.wikipedia.org/wiki/MIR195

For example, individuals with TT allele pair at SNP rs10993994 were reported to be at 1.6 times higher risk than those with the ... 37] reported that it caused reduction in the formation of 5-HETE in human leucocytes when used. MS can thus be considered a ... Loss of cancer suppressor genes, early in prostatic carcinogenesis, have been localized to chromosomes 8p, 10q, 13q, and 16q. ... Alimirah F, Chen J, Basrawala Z, Xin H, Choubey D (April 2006). "DU-145 and PC-3 human prostate cancer cell lines express ...

https://en.wikipedia.org/wiki/Prostate_cancer

The DNA repair transcriptomes of the liver of humans, naked mole-rats and mice were compared. The maximum lifespans of humans, ... Mouse cells deficient for maturation of prelamin A show increased DNA damage and chromosome aberrations and are more sensitive ... However, in vertebrates there are CpG islands, about 300 to 3,000 base pairs long, with interspersed DNA sequences that deviate ... In human and mouse DNA, cytosine followed by guanine (CpG) is the least frequent dinucleotide, making up less than 1% of all ...

https://en.wikipedia.org/wiki/DNA_damage_theory_of_aging

The gene that encodes the cereblon protein is found on the human chromosome 3, on the short arm at position p26.3 from base ... pair 3,190,676 to base pair 3,221,394. CRBN orthologs are highly conserved from plants to humans. Cereblon forms an E3 ... CRBN protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) Overview of all the structural ... 2000). "A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter". Neurology. 55 (3): 335-40. doi:10.1212/wnl. ...

https://en.wikipedia.org/wiki/Cereblon

The chromosome number is 66 (diploid) with a fundamental number of 70. The autosomes include 31 pairs of sub-graded ... With the increase in human populations in North America, their habitat selection has adapted: Gray foxes that live near human ... The larger predators of the gray fox, like coyotes and bobcats, tend to avoid human-use areas and paved roads, making this ... These foxes apparently were transported by humans to the islands and from island to island, and are descended from a minimum of ...

https://en.wikipedia.org/wiki/Gray_fox

... is located on the X chromosome at Xq13.1. It is 3912 base pairs long and the gene sequence has 6 exons. CXorf49 has one ... "CXorf49 chromosome X open reading frame 49 [Homo sapiens (human)] - Gene - NCBI". Ncbi.nlm.nih.gov. Retrieved 2016-04-28. "Gene ... CXorf49 is a protein, which in humans is encoded by the gene chromosome X open reading frame 49(CXorf49). The CXorf49 gene has ... CXorf49 has developed from aardvarks, to the human protein over 105.0 million years. "Homo sapiens chromosome X open reading ...

https://en.wikipedia.org/wiki/CXorf49

... are located on different chromosomes. The human TERT gene (hTERT) is translated into a protein of 1132 amino acids. TERT ... Cells may reduce their telomere length by only 50-252 base pairs per cell division, which can lead to a long lag phase. A ... Telomeres protect the end of the chromosome from DNA damage or from fusion with neighbouring chromosomes. The fruit fly ... This treatment involves manipulating a human's immune system to destroy cancerous cells. Humans have two major antigen ...

https://en.wikipedia.org/wiki/Telomerase

As women have two X chromosomes and no Y chromosome, Longoria did not inherit her father's Y-DNA, but she did inherit her ... In terms of food-related promotions, in 2012 and 2013, Longoria paired with Iron Chef Michael Symon for a promotion for ... After a computer compared the DNA results of Gates's dozen guests, tests showed that she is anciently related by human ... November 17, 2010. "Tony Parker Files for Divorce In Texas". TMZ. November 19, 2010. "Tony Parker Texas Two-Steps to Divorce ...

https://en.wikipedia.org/wiki/Eva_Longoria

... such as monotremes possessing 5 pairs of sex chromosomes and that one of the X chromosomes resembles the Z chromosome of birds ... Power, Michael L.; Schulkin, Jay (2012). The Evolution of the Human Placenta. Johns Hopkins University Press. pp. 68ff. ISBN ... June 2008). "Bird-like sex chromosomes of platypus imply recent origin of mammal sex chromosomes". Genome Res. 18 (6): 965-973 ... Additional reconstruction through shared genes in sex chromosomes supports this hypothesis of independent evolution. This ...

https://en.wikipedia.org/wiki/Monotreme

Genes on human chromosome 11, All stub articles, Human chromosome 11 gene stubs, Wikipedia articles incorporating text from the ... which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational ... MicroRNA 210 is a protein that in humans is encoded by the MIR210 gene. MicroRNAs (miRNAs) are short (20-24 nt) non-coding RNAs ... Bostjancic E, Zidar N, Glavac D (2009). "MicroRNA microarray expression profiling in human myocardial infarction". Dis. Markers ...

https://en.wikipedia.org/wiki/MicroRNA_210

Chromosome Mapping * Chromosomes, Human, Pair 17 / genetics* * Female * Gene Frequency / genetics * Haplotypes / genetics ... One additional family, which had histologically proved fibrofolliculomas, did not show evidence of linkage to chromosome 17p, ... Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome ... localized the gene locus to the pericentromeric region of chromosome 17p, with a LOD score of 4.98 at D17S740 (recombination ...

https://pubmed.ncbi.nlm.nih.gov/11533913/

... base pairs) and represents between 2.5 and 3 percent of the total DNA in cells. Learn about health implications of genetic ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 17, one copy inherited from ... Ensembl Human Map View. *Gilbert F. Disease genes and chromosomes: disease maps of the human genome. Chromosome 17. Genet Test ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...

https://medlineplus.gov/genetics/chromosome/17/

Categories: Chromosomes, Human, Pair 17 Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...

https://phil.cdc.gov/AdvancedSearchResults.aspx?Search=Chromosomes,+Human,+Pair+17&parentid=6426&catid=6394

Chromosomes, Human, Pair 11. 1. 2009. 423. 0.080. Why? Receptors, G-Protein-Coupled. 1. 2015. 1185. 0.080. Why? ...

https://connects.catalyst.harvard.edu/Profiles/display/person/181289/network/researchareas/details

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- ...

https://moh-it.pure.elsevier.com/en/publications/human-homeo-box-containing-genes-located-at-chromosome-regions-2q

Chromosomes, Human, Pair 17 100% * Frontotemporal Dementia 98% * Siblings 72% * Mutation 44% ... Large-scale genomics unveil polygenic architecture of human cortical surface area. Chen, C. H., Peng, Q., Schork, A. J., Lo, M ... Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated ... 17, 12, p. 1976-1987 12 p.. Research output: Contribution to journal › Article › peer-review ...

https://mayoclinic.pure.elsevier.com/en/persons/clifford-r-jr-jack/publications/?page=10&ordering=title&descending=true

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. ...

https://profiles.jefferson.edu/display/8550

The workflow requires an input of: a chromosome name or number; a QTL start base pair position; QTL end base pair position. ... This workflow searches for genes which reside in a QTL (Quantitative Trait Loci) region in Human, Homo sapiens. The workflow ... The workflow requires an input of: a chromosome name or number; a QTL start base pair position; QTL end base pair position. ... The workflow requires an input of: a chromosome name or number; a QTL start base pair position; QTL end base pair position. ...

https://www.myexperiment.org/workflows?filter=TYPE_ID%28%222%22%29+AND+TAG_ID%28%22144%22%29+AND+WSDL_ENDPOINT%28%22http%3A%2F%2Fsoap.genome.jp%2FKEGG.wsdl%22%29

Chromosomes, Human, Pair 17 18% * Frontotemporal Dementia 18% * Parkinsonian Disorders 16% * Molecular Weight 12% ...

https://experts.umn.edu/en/publications/accumulation-of-pathological-tau-species-and-memory-loss-in-a-con/fingerprints/

This meta-analysis has led to identification of a novel region on chromosome 17 linked to type 2 diabetes; this region has not ... The analysis provided evidence for linkage of type 2 diabetes to six regions, with the strongest evidence on chromosome 17p11.2 ... Chromosomes, Human, Pair 17, Humans, Diabetes Mellitus, Type 2, Chromosome Mapping, Lod Score, Genome, Human, Europe ... This meta-analysis has led to identification of a novel region on chromosome 17 linked to type 2 diabetes; this region has not ...

https://www.bdi.ox.ac.uk/publications/23425?d36fe7e8-71d6-11ed-856d-061b866677b4

... we isolated a human brain 5.3-kilobase cDNA containing a 486-base pair region with complete identity to a previously reported ... gene sequence on human chromosome 17. The brain cDNA encoded a 98-kDa protein (ABR) resembling BCR (68% identity), containing ... Crystal structure of human Intersectin 2 C2 domain. 3ksy. Crystal structure of the Histone domain, DH-PH unit, and catalytic ... The human active breakpoint cluster region-related gene encodes a brain protein with homology to guanine nucleotide exchange ...

https://smart.embl.de/smart/do_annotation.pl?DOMAIN=RhoGEF&START=1285&END=1455&E_VALUE=3.6e-56&TYPE=SMART&BLAST=IMAELLQTEKAYVRDLHECLETYLWEMTSGVEEIPPGILNKEHIIFGNIQEIYDFHNNIFLKELEKYEQLPEDVGHCFVTWADKFQMYVTYCKNKPDSNQLILEHAGTFFDEIQQRHGLANSISSYLIKPVQRVTKYQLLLKELLTCCEEGKGELKDGLEVMLSVPKKAND

We all have 23 pairs of chromosomes that identify us as human, and within those chromosomes are small variations that make each ... Arnold Schwarzenegger at his peak is widely recognized as the pinnacle of human achievement for physical prowess and ...

https://www.bodybuilding.com/content/stop-letting-your-genetic-ceiling-sabotage-your-goals.html

We noted in both populations that primer pair 1 sometimes amplified a region of human genomic DNA from chromosome 6 (GQ497714 ... followed by pair 7 (n = 40), pair 5 (n = 36), and pair 8 (n = 31). Most notably, primer pair 7 performed better than it had in ... Distribution of human rhinovirus (HRV) and human enterovirus (HEV) sequences used for primer pair studies. The HRV and HEV ... Distribution of human rhinovirus (HRV) and human enterovirus (HEV) sequences used for primer pair studies. The HRV and HEV ...

https://wwwnc.cdc.gov/eid/article/17/2/10-1123

Chromosomes, Human, Pair 17 Medicine & Life Sciences 100% * Chromosomes, Human, Pair 1 Medicine & Life Sciences 96% ... Diagnostic clinical application of two-color fluorescence in situ hybridization that detects chromosome 1 and 17 alterations to ... Diagnostic clinical application of two-color fluorescence in situ hybridization that detects chromosome 1 and 17 alterations to ... Diagnostic clinical application of two-color fluorescence in situ hybridization that detects chromosome 1 and 17 alterations to ...

https://keio.pure.elsevier.com/en/publications/diagnostic-clinical-application-of-two-color-fluorescence-in-situ

Wang, X., Wu, Q. & Yoon, S., 2019, In: Child Psychiatry & Human Development. 50, 4. Research output: Contribution to journal › ... Pets and Human Diversity: Toward Culturally Competent, Culturally Humble Psychotherapy. Smith, Y., Jan 1 2019, Clinicians ... Liang, C., Mickey, M. C., Receno, C. N., Atalay, M. & DeRuisseau, K. C., Jan 17 2019, In: Journal of Applied Physiology. 126, 4 ... DeRuisseau, L. R., Receno, C. N., Heffernan, K. S. & Cunningham, C. M., Sep 1 2019, In: Physiological reports. 7, 17, e14205.. ...

https://experts.syr.edu/en/organisations/david-b-falk-college-of-sport-human-dynamics/publications/?page=12

Chromosomes, Human, Pair 4 24% * Folic Acid Antagonists 100% * Genotype 52% * Haplotypes 17% ...

https://asu.pure.elsevier.com/en/publications/antifolate-resistance-in-plasmodium-falciparum-multiple-origins-a/fingerprints/?sortBy=alphabetically

In 6 of 7 MCC-SCCIS pairs there was highly significant mutational overlap including shared TP53 and/or RB1 mutations. In some ... In summary, MCC-SCCIS pairs demonstrate clonal relatedness. The shift to neuroendocrine phenotype is associated with loss of Rb ... To better understand the relationship between these distinct tumor cell populations, we evaluated 7 pairs of MCC-SCCIS for ... A diagnostic algorithm to identify paired tumors with clonal origin. Genes Chromosomes Cancer 52, 1007-1016 (2013). ...

https://www.nature.com/articles/s41379-021-00928-1?error=cookies_not_supported&code=60a0479a-e5af-42d3-a893-046dfcc1c697

... a finding that provides valuable new insight into the condition in humans ... identified specific regions of chromosome 21 which cause memory & decision-making problems in mice with Down syndrome, ... Most people have 46 chromosomes in each cell, divided into 23 pairs: people with Down syndrome (DS) have an extra copy of ... Novel insight into chromosome 21 and its effect on Down syndrome. Novel insight into chromosome 21 and its effect on Down ...

https://www.ucl.ac.uk/ion/news/2020/jan/novel-insight-chromosome-21-and-its-effect-down-syndrome

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. ...

https://research.uaeu.ac.ae/en/publications/assignment-of-the-mouse-homologue-of-a-human-men1-candidate-gene-/fingerprints/

He has 23 pairs of chromosomes, a wife, and two children.. Read More ... George Annas is the author or editor of seventeen books on health law and bioethics and is cofounder of Global Lawyers and ... He is the Edward R. Utley Professor and Chair of the Department of Health Law, Bioethics & Human Rights of Boston University ... Physicians, an organization that promotes human rights and health. ...

https://www.worldsciencefestival.com/participants/mia_barron/page/8/

Chromosomes, Human, Pair 15 54% * Chromosomes, Human, Pair 17 50% * Retinoic Acid Receptor alpha 29% ... Troxell, M. L. & Drachenberg, C., Aug 1 2016, In: Human Pathology. 54, p. 127-133 7 p.. Research output: Contribution to ...

https://ohsu.pure.elsevier.com/en/organisations/pathology/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle&ordering=type&descending=false

Chromosomes, Human, Pair 4 100% * Tobacco Use Disorder 91% * GABA Receptors 90% ... Genetic linkage to chromosome 22q12 for a heavy-smoking quantitative trait in two independent samples. Saccone, S. F., Pergadia ... Genes identified in rodent studies of alcohol intake are enriched for heritability of human substance use. Huggett, S. B., ... Further evidence for an association between the gamma-aminobutyric acid receptor A, subunit 4 genes on chromosome 4 and ...

https://profiles.wustl.edu/en/persons/arpana-agrawal/publications/?type=%2Fdk%2Fatira%2Fpure%2Fresearchoutput%2Fresearchoutputtypes%2Fcontributiontojournal%2Farticle&page=2&ordering=type&descending=false

Chromosomes, Human, Pair 1 17% 9 Scopus citations * The effect of N-acetylcysteine or bupropion on methamphetamine self- ... 543-559 17 p.. Research output: Contribution to journal › Article › peer-review ... 468-484 17 p.. Research output: Contribution to journal › Article › peer-review ...

https://experts.nebraska.edu/en/persons/rick-a-bevins/publications/

https://einstein.pure.elsevier.com/en/publications/human-homeo-box-containing-genes-located-at-chromosome-regions-2q-2

... the sequence of said primers being derived from human chromosome 17q, wherein the use of said primers in a polymerase chain ... Claim 16: A pair of single-stranded DNA primers for determination of a nucleotide sequence of a BRCA1 gene by a polymerase chin ... These tests encompass over 200 human genes, including the human BRCA 1 and BRCA 2 as well as the MUTYH genes that are the ... the sequence of said primers being isolated from human chromosome 13, wherein the use of said primers in a polymerase chain ...

https://www.patentdocs.org/2013/11/index.html

A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.. ... A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. ... Chromosomes, Human, Pair 17 - Preferred Concept UI. M0004425. Scope note. ... Chromosomes, Human, Pair 16 [A11.284.187.520.300.415.420] Chromosomes, Human, Pair 16 ...

https://decs.bvsalud.org/en/ths/resource/?id=19119

... derived from human chromosome 17q," but also "functions" differently from how that "sequence" operates in native environment. ... A pair of single-stranded DNA primers for determination of a nucleotide sequence of a BRCA1 gene by a polymerase chain reaction ... the sequence of said primers being derived from human chromosome 17q, wherein the use of said primers in a polymerase chain ... The big question is whether those "pair of single-stranded DNA primers " are not only chemical different from the "sequence of ...

https://ipwatchdog.com/2013/06/16/amp-v-myriad-getting-beyond-the-hype-and-hyperbole/id=41833/

1 Chromosomes, Human, Pair 17. *1 Humans. *1 Hyperkalemia --diagnosis. *1 Hypokalemia --diagnosis ...

https://imsear.searo.who.int/handle/123456789/1/simple-search?query=&sort_by=score&order=desc&rpp=10&filter_field_1=dateIssued&filter_type_1=equals&filter_value_1=%5B1990+TO+1999%5D&filter_field_2=author&filter_type_2=equals&filter_value_2=Gupta%2C+S&filter_field_3=dateIssued&filter_type_3=equals&filter_value_3=1993&etal=0&filtername=subject&filterquery=Alleles&filtertype=equals

Chromosomes, Human, Pair 17 34% * Human Chromosomes 30% * Electrophysiology 30% * HEK293 Cells 29% ... Dive into the research topics of Cloning and characterization of α1H from human heart, a member of the T-type Ca2+ channel ... Cloning and characterization of α1H from human heart, a member of the T-type Ca2+ channel gene family. ...

https://scholars.uky.edu/en/publications/cloning-and-characterization-of-%CE%B11h-from-human-heart-a-member-of-/fingerprints/

Chromosomes, Human, Pair 17 ...

http://digital.library.musc.edu/cdm/search/searchterm/proximity

Identifying genes on each chromosome is an active area of genetic research. (medlineplus.gov)
Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. (medlineplus.gov)
Chromosome 17 likely contains 1,100 to 1,200 genes that provide instructions for making proteins. (medlineplus.gov)
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. (elsevier.com)
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. (elsevier.com)
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). (elsevier.com)
This workflow searches for genes which reside in a QTL (Quantitative Trait Loci) region in Human, Homo sapiens. (myexperiment.org)
Most people have 46 chromosomes in each cell, divided into 23 pairs: people with Down syndrome (DS) have an extra copy of chromosome 21, which carries over 200 genes. (ucl.ac.uk)
Chromosome 21 and its genes are also found in mice, although the genes have dispersed onto three smaller regions on three different mouse chromosomes. (ucl.ac.uk)
These are mouse chromosomes 16, 10 and 17 containing 148 genes, 62 genes and 19 genes respectively. (ucl.ac.uk)
The researchers looked at the effect of the genes in each of these three different mouse regions (chromosomes) on learning and memory. (ucl.ac.uk)
Again, let's not get lost in the mistaken (and misrepresentative) hype and hyperbole of the media and the ACLU, i.e., the "patenting of human genes has been blocked by the Supreme Court" which the Myriad case was never about in the first place. (ipwatchdog.com)
Loss of chromosome 11 and 13, including the Trp53 and Ptch1 loci, respectively, occurred frequently in BCCs, suggesting tissue-specific selection for genes or pathways that collaborate with Ptch deficiency in tumorigenesis. (nyu.edu)
[16] [17] Other types of mutation occasionally create new genes from previously noncoding DNA . (wikipedia.org)
The interaction of genes with each other and with environmental factors underlies many aspects of human health and disease. (who.int)
These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. (who.int)
2) Genes implicated in neuropsychiatric disorders are active in human fetal brain, yet difficult to study in a longitudinal fashion. (jcbose.ac.in)
Genes involucrados en la amelogénesis imperfecta. (bvsalud.org)
involucrados en la AI no sindrómica, las proteínas codificas por estos genes y sus funciones, de acuerdo amelogénesis a la evidencia científica actual. (bvsalud.org)
Las futuras investigaciones abordadas desde la visión translacional ayudarán estética dental, a identificar nuevas mutaciones o nuevos genes, lo cual contribuirá a la evolución en la manera de clasificar, genes. (bvsalud.org)

The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 17. (medlineplus.gov)
17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied abnormally in each cell. (medlineplus.gov)
The most common recurrent chromosomal abnormality was t(8;21) (8.8 %, 238/2717), but t(15;17) showed an almost same number (8.6 %,235/2717). (elsevier.com)
About 67.1 % of the secondary AML cases were associated with chromosomal aberrations, and chromosome 7 abnormalities (n = 45, 15.9 %) were most common. (elsevier.com)
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. (mpg.de)
The classical analysis of chromosomal defects is done by a karyogram, which is a microscopic view of stained chromosomes. (mpg.de)
Down Syndrome (DS), defined as the trisomy of chromosome 21, is the most frequent chromosomal abnormality that causes intellectual disability 1 . (bvsalud.org)
As a major form of genomic instability, chromosomal instability comprises aberrant chromosome numbers (i.e., aneuploidy or polyploidy) and structural changes in chromosomes. (frontiersin.org)
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. (wikipedia.org)
Table 1 provides a summary outline of the gene symbols, chromosomal locations, radiation sensitivity characteristics, immunodeficiencies, chromosome breakage characteristics, and major cancer risk for each of these disorders. (medscape.com)

We performed two-color fluorescence in situ hybridization (FISH) on direct touch smears and liquid-based thin-layer (ThinPrep) cytological preparations of endometrial tumors to detect alterations of chromosome 1 and 17 that present with high incidence in endometrial cancers. (elsevier.com)

Numerical or structural alterations of chromosome 1 and/or 17 were detected in 95% (19 of 20 cases) of the direct touch smears obtained from endometrial cancer, while these alterations were also detected in 93% (12 of 13 cases) of samples obtained from grade 1 endometrioid adenocarcinoma cases, including three cases that could not be diagnosed as positive by conventional Papanicolaou cytopathologic staining. (elsevier.com)
Thousands of genomic structural variants (SVs) segregate in the human population and can impact phenotypic traits and diseases. (bvsalud.org)
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 ). (frontiersin.org)
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. (qrforex.com)
nanomonsv is a software for detecting somatic structural variations from paired (tumor and matched control) cancer genome sequence data. (pypi.org)
Precise characterization of somatic structural variations and mobile element insertions from paired long-read sequencing data with nanomonsv, Shiraishi et al. (pypi.org)
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. (jcbose.ac.in)
Analyses were performed to understand how chromatin organization and/or epigenome affects origin of structural variations in human genome. (jcbose.ac.in)

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. (elsevier.com)

the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. (utsouthwestern.edu)
Previous reports suggest that electrical forces on cell structure proteins interfered with the chromosome separation during mitosis and induced apoptosis. (nature.com)

The AMPK/mTOR pathway is involved in D-dopachrome tautomerase gene transcription in adipocytes differentiated from SGBS cells, a human preadipocyte cell line, Cytokine, Vol.96, 195-202, 2017. (tokushima-u.ac.jp)

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. (elsevier.com)
Human ornithine decarboxylase-encoding loci: nucleotide sequence of the expressed gene and characterization of a pseudogene. (jefferson.edu)
[22] For example, more than a million copies of the Alu sequence are present in the human genome , and these sequences have now been recruited to perform functions such as regulating gene expression . (wikipedia.org)
Detailed knowledge of how diversity in the sequence of the human genome affects phenotypic diversity depends on a comprehensive and reliable characterization of both sequences and phenotypic variation. (bvsalud.org)
Although many associations between sequence variants and human traits have been discovered through genome-wide associations, the impact of parental origin has largely been ignored. (ox.ac.uk)
Beowulf Genomics funded a pilot scheme to sequence chromosome Ia of T. brucei as a collaboration with Professor Keith Gull (University of Oxford) and Dr. Sara Melville (University of Cambridge) within the framework of the World Health Organisation T. brucei Genome Project. (sanger.ac.uk)
In April 2000, the Wellcome Trust, via its Beowulf Genomics Initiative, awarded more funding to the T.brucei genome project at the Sanger Institute to sequence chromosomes IX (3.5 Mb), X (4.4 Mb) and XI (5.2 Mb) in collaboration with Dr. Sara Melville and the WHO/TDR supported T. brucei Genome Network. (sanger.ac.uk)
At around the same time, NIAID funded TIGR to sequence chromosomes II to VIII in collaboration with Drs. John Donelson (University of Iowa), Sara Melville (University of Cambridge) and Elisabetta Ullu (Yale University). (sanger.ac.uk)
Using recently available sequence for chromosome 19q13.4 and novel polymorphic markers for this sequence we performed haplotype analysis of the CX02 family. (bmj.com)
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. (mpg.de)
Belted mice have sequence variants in the Adamts20 gene encoding a secreted metalloprotease [ 16 ], which was shown to be required for melanoblast survival [ 17 ]. (plos.org)

In addition, a maximum lod score of 2.00 was observed with marker D22S283 on chromosome 22q12, which showed evidence of an imprinting effect, whereby an excess sharing of maternal, but not paternal, alleles was present. (unab.cl)

American Journal of Human Genetics , 41 (1), 1-15. (elsevier.com)
As I know, and many others far more knowledgeable in the field of molecular biology might know, the Myriad opinion essentially addresses only that 2% of the human genome that follows the pre-ENCODE approach to genetics. (ipwatchdog.com)
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. (mpg.de)
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. (mpg.de)
The Office was formed in 1997 to assess the impact of advances in human genetics and the Human Genome Project on public health and disease prevention. (cdc.gov)

The original descriptions of primer pairs 7 and 10 ( Table A1 ) lacked T M information, and after in-house calculations, we used T M s of 50°C and 58°C, respectively. (cdc.gov)

To better understand the relationship between these distinct tumor cell populations, we evaluated 7 pairs of MCC-SCCIS for overlapping genomic alterations by cancer profiling panel. (nature.com)
Highly recurrent but different copy number changes were associated with the two tumor types and included losses of chromosomes 4 and 10 in all BCCs and gain of chromosome 10 in 80% of RMSs. (nyu.edu)
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. (euromed2016.com)

The analysis provided evidence for linkage of type 2 diabetes to six regions, with the strongest evidence on chromosome 17p11.2-q22 (P=0.0016), followed by 2p22.1-p13.2 (P=0.027), 1p13.1-q22 (P=0.028), 12q21.1-q24.12 (P=0.029), 6q21-q24.1 (P=0.033) and 16p12.3-q11.2 (P=0.033). (ox.ac.uk)
A set of 56 SNP locus/phenotype associations was identified and the genomic regions harboring these loci were distributed over nine of the 12 eggplant chromosomes. (biomedcentral.com)

Genetic refinement and physical mapping of a biparental complete hydatidiform mole locus on chromosome 19q13.4. (bmj.com)
Homozygosity mapping has previously positioned the BiCHM gene to a 12.4 cM region of chromosome 19q13.4 in four unrelated families. (bmj.com)

December 17, 2020 - New research from the University of Oxford shows that plant mutation rates accelerate with increasing environmental temperatures. (cshlpress.org)

Two copies of chromosome 17, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
This chromosome segment is prone to rearrangement during cell division, which can lead to extra or missing copies of DNA at 17q12. (medlineplus.gov)
Everyone has two copies of the human genome: One inherited from their biological mother and one from the biological father. (cnn.com)

The human genome (the genetic code in each human cell) contains 23 DNA molecules (called chromosomes), each containing from 500,000 to 2.5 million nucleotide pairs. (scitechcare.com)
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). (geneamusings.com)

Because primer pair 1 had a published history of detecting types from all HRV species, we chose it to genotype HRV-positive samples by sequencing the amplified products. (cdc.gov)

We performed a genomewide scan in one large kindred with BHD and, by linkage analysis, localized the gene locus to the pericentromeric region of chromosome 17p, with a LOD score of 4.98 at D17S740 (recombination fraction 0). (nih.gov)

It is the same region of chromosome 17 that is abnormally copied (duplicated) in people with a 17q12 duplication (described below). (medlineplus.gov)
The T. brucei genome contains a ~0.5Mb segmental duplication affecting chromosomes 4 and 8, which is responsible for some 75 gene duplicates unique to this species. (sanger.ac.uk)
The chromosome on the right acquired an additional piece by duplication of a section of DNA, which is apparent by the additional band (arrow). (mpg.de)
In this variant, a 16-base pair frame shift duplication occurs at exon 15 of the HPS1 gene. (medscape.com)

Chromosome 17 spans about 83 million DNA building blocks (base pairs) and represents between 2.5 and 3 percent of the total DNA in cells. (medlineplus.gov)
We report that components of the BAP1 and the COMPASS-like complexes, including KMT2C/D, KDM6A, BAP1 and ASXL1/2 ("EpiDrivers"), cooperate with PIK3CAH1047R to transform mouse and human breast epithelial cells. (salk.edu)
This inactivation of one of the two X chromosomes in the cells of females is still called 'Lyonisation', and the discovery had profound implications for understanding the genetic basis of X-linked diseases such as Duchenne Muscular Dystrophy. (ed.ac.uk)
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. (who.int)
[ 6 ] Cells deficient in the HPS5 protein maintain early-stage melanosome formation and Pmel-17 trafficking. (medscape.com)
In the majority of cases, people affected by DS present free or simple trisomy 21, in which all cells in the body have a third chromosome of pair 21 3,4 . (bvsalud.org)
Cells that help the human body reproduce. (flashcardmachine.com)
Number of chromosomes found in human body cells and sex cells. (flashcardmachine.com)
Organoids from human pluripotent cells can be used to model cerebral cortical development. (jcbose.ac.in)

It is the same region of chromosome 17 that is deleted in people with 17q12 deletion syndrome (described above). (medlineplus.gov)
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). (elsevier.com)
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. (jefferson.edu)
The highest lod scores occurred on chromosome 10p15-p13 (peak lod score of 3.60 at marker D10S189) and the centromeric region of chromosome 2 (peak lod score of 2.99 at marker D2S139). (unab.cl)
The Hmt region of chromosome 17 lies between a recombinational breakpoint distal to Tla and another proximal to Tpx-1, thus including Pgk-2. (elsevier.com)
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. (who.int)

One additional family, which had histologically proved fibrofolliculomas, did not show evidence of linkage to chromosome 17p, suggesting genetic heterogeneity for BHD. (nih.gov)
A type of blood cancer known as acute promyelocytic leukemia is caused by a rearrangement (translocation) of genetic material between chromosomes 15 and 17. (medlineplus.gov)
The t(15;17) translocation is called a balanced reciprocal translocation because the pieces of chromosome are exchanged with each other (reciprocal) and no genetic material is gained or lost (balanced). (medlineplus.gov)
With technology that's being used for genetic sequencing these days, it's not possible to say which variants on the chromosome you inherited from which parent. (cnn.com)
Some genetic diseases, such as haemophilia, are carried on the X-chromosome (these X-linked disorders occur mainly in men). (who.int)
Understanding Genetic and Environmental Causes of Human Disease A recent article in the Archives of General Psychiatry by Hallmayer et al. (cdc.gov)
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. (medscape.com)

Chromosomes, Human, Pair 7" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (jefferson.edu)

This chromosome segment is surrounded by short, repeated sequences of DNA that make it prone to rearrangement during cell division. (medlineplus.gov)

17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. (medlineplus.gov)
Most people with 17q12 deletion syndrome are missing about 1.4 million DNA building blocks (base pairs), also written as 1.4 megabases (Mb), on the long (q) arm of the chromosome at a position designated q12. (medlineplus.gov)

Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 22. (antikoerper-online.de)

Telomeres are small structures that protect the ends of your chromosomes. (hilfenetzwerk-cic.de)

In 6 of 7 MCC-SCCIS pairs there was highly significant mutational overlap including shared TP53 and/or RB1 mutations. (nature.com)
Changes in chromosome number may involve even larger mutations, where segments of the DNA within chromosomes break and then rearrange. (wikipedia.org)
EpiDrivers mutations are found in ~39% of human breast cancers and ~50% of ductal-carcinoma-in-situ express casein suggesting that lineage infidelity and alveogenic mimicry may significantly contribute to early steps of breast cancer etiology. (salk.edu)

The intermediate and mini-chromosome will be sequenced as a collaboration between Dr Sara Melville (University of Cambridge) and Dr Bill Wickstead/Professor Keith Gull (University of Oxford). (sanger.ac.uk)

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. (medlineplus.gov)
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. (elsevier.com)
Born in 1925 in Norwich, Mary was best known for her X-chromosome inactivation hypothesis, which proposed that one of the two X chromosomes in every cell of female mammals is inactivated. (ed.ac.uk)
Mary's work pioneered the use of the mouse as a model organism for advances in cell and developmental biology as well as molecular medicine, and laid the foundations for comprehending the human genome. (ed.ac.uk)
There are 23 pairs of chromosomes in the cell of human body. (solutionsclass.com)
The 23rd pair in gonadal cell called sex chromosome which is not always a perfect pair. (solutionsclass.com)
A cell with one of every kind of chromosome. (flashcardmachine.com)
EXPERIMENTAL DESIGN: Using proliferation and apoptosis assays, we studied the factorial effects of trametinib and ganitumab (AMG 479), a monoclonal antibody with specificity for human and murine IGF1R, in a panel of RAS-mutant FN RMS cell lines. (bvsalud.org)
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. (hilfenetzwerk-cic.de)

Fig. 2: Genomic relatedness in MCC-SCCIS pairs. (nature.com)

Chromosomes I to VIII are complete and the Sanger Institute is actively continuing to finish chromosomes IX, X and XI in order to remove the few remaining gaps. (sanger.ac.uk)

We all have 23 pairs of chromosomes that identify us as human, and within those chromosomes are small variations that make each person unique. (bodybuilding.com)

Over the next six decades, Mary also made important studies of Chromosome 17 and 'the t-complex', which had significant bearings on the understanding of non-Mendelian inheritance (a departure from the expected one-to-one ratio due to the abnormal segregation of chromosome pairs). (ed.ac.uk)

We mapped the causative variant to a 37 kb segment on bovine chromosome 3. (plos.org)

The domain is named after the mammalian major centromere autoantigen B or centromere protein B (CENP-B), which is a fundamental centromere component of chromosomes. (embl.de)
contains a zinc finger,XV" YOL091W 1 15 16 YOL091W "involved in sporulation,XV" YOL103W-B 1 15 17 YOL103W-B "TyB Gag-Pol protein. (davidson.edu)

To do this three different mouse strains (groups of mice), were genetically modified to carry an extra copy of one of the gene groups on mouse chromosomes 16, 10 or 17. (ucl.ac.uk)
Study note: Mouse strains Dp1Tyb, Dp10Yey and Dp17Yey were genetically modified to carry an extra copy of one of the gene groups on mouse chromosomes 16, 10 and 17 respectively. (ucl.ac.uk)
This must mean that the female possessed one, inactivated, mutant gene on one X-chromosome, but a normal gene on the other chromosome, which was activated - therefore a female mouse needs only one X chromosome for normal development. (ed.ac.uk)
Grahame Bulfield, later director of the Roslin Institute, first positioned the mouse muscular dystrophy mutant on the X-chromosome using Mary's stock of mouse X-chromosome mutants. (ed.ac.uk)
Hier sind URI1 Antikörper für eine Vielzahl von Species wie anti-Human URI1, anti-Mouse URI1, anti-Rat URI1 zu finden. (antikoerper-online.de)

This study also indicated a potential beneficial role of repetitive elements in the human genome. (jcbose.ac.in)

FANCB is the one exception to FA being autosomal recessive , as this gene is on the X chromosome. (wikipedia.org)

Method: In a genome-wide scan of 382 sibling pairs with a diagnosis of schizophrenia or schizoaffective disorder, 396 highly polymorphic markers spaced approximately 10 centimorgans apart throughout the genome were genotyped in all individuals. (unab.cl)
The ISHIKAWA cultures each had up to 60 chromosomes with 4-6 markers, but only a missing X in common. (cdc.gov)

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. (cdc.gov)

Researchers, journalists, and inquiring minds want to know more about telomeres, which seem to hold clues to human aging and age-related diseases. (cdc.gov)

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. (jefferson.edu)

About 2% of FA cases are X-linked recessive, which means that if the mother carries one mutated Fanconi anemia allele on one X chromosome , a 50% chance exists that male offspring will present with Fanconi anemia. (wikipedia.org)

We conducted a preliminary comparison of the relative sensitivity of a cross-section of published human rhinovirus (HRV)-specific PCR primer pairs, varying the oligonucleotides and annealing temperature. (cdc.gov)

We conducted a preliminary comparison of the relative sensitivity of a cross-section of published HRV-specific PCR primer pairs (most of which were first published before HRV-C was reported), independent of most variables described above, by testing a panel of 57 clinical specimen nucleic acid extracts from combined nose and throat swabs from preschool children with colds and influenza-like illnesses in Melbourne, Australia. (cdc.gov)
We used 10 different HRV primer pairs and We conducted a preliminary comparison of the relative also retested specimens by using the original primer pair sensitivity of a cross-section of published human rhinovirus with our standard reagents and equipment ( 5 ). (cdc.gov)

Anatomy66

Organisms8

Diseases26

Chemicals and Drugs29

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

Psychiatry and Psychology1

Phenomena and Processes174

Disciplines and Occupations2

Technology, Industry, Agriculture2

Information Science4

Health Care1

Comparative molecular genetic profiles of anaplastic astrocytomas/glioblastomas multiforme and their subsequent recurrences. (1/1744)

Leukemia translocation protein PLZF inhibits cell growth and expression of cyclin A. (2/1744)

Multiple target sites of allelic imbalance on chromosome 17 in Barrett's oesophageal cancer. (3/1744)

Correlation between the status of the p53 gene and survival in patients with stage I non-small cell lung carcinoma. (4/1744)

Retinoic acid, but not arsenic trioxide, degrades the PLZF/RARalpha fusion protein, without inducing terminal differentiation or apoptosis, in a RA-therapy resistant t(11;17)(q23;q21) APL patient. (5/1744)

High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (6/1744)

A susceptibility locus for epidermodysplasia verruciformis, an abnormal predisposition to infection with the oncogenic human papillomavirus type 5, maps to chromosome 17qter in a region containing a psoriasis locus. (7/1744)

Localization of PS6K to chromosomal region 17q23 and determination of its amplification in breast cancer. (8/1744)

Chromosomes

Chromosome Mapping

Chromosome Banding

X Chromosome

Chromosome Aberrations

Sex Chromosomes

Chromosomes, Human, Pair 1

Chromosomes, Human

Chromosomes, Bacterial

Chromosome Segregation

Chromosomes, Human, Pair 7

Chromosomes, Human, Pair 11

Chromosomes, Human, Pair 17

Chromosomes, Human, Pair 6

Chromosome Deletion

Chromosomes, Human, Pair 9

Chromosomes, Human, Pair 21

Chromosomes, Plant

Chromosomes, Fungal

Chromosomes, Human, 6-12 and X

Chromosomes, Human, Pair 2

Chromosomes, Human, Pair 16

Chromosomes, Human, Pair 22

Chromosome Pairing

Chromosomes, Human, Pair 13

Chromosomes, Mammalian

Chromosomes, Human, Pair 4

Chromosomes, Human, Pair 10

Chromosomes, Human, Pair 19

Chromosomes, Human, Pair 8

Chromosomes, Human, Y

Chromosome Disorders

Chromosomes, Artificial, Bacterial

Chromosomes, Human, Pair 12

Chromosomes, Human, Pair 5

Chromosomes, Human, X

Chromosome Painting

Chromosomes, Human, 1-3

Chromosomes, Human, Pair 15

Karyotyping

Chromosomes, Human, Pair 14

Chromosomes, Human, Pair 18

Chromosomes, Human, Pair 20

In Situ Hybridization, Fluorescence

Chromosomes, Human, 16-18

Chromosomes, Artificial, Yeast

Genetic Linkage

Chromosomes, Human, 13-15

Chromosome Breakage

Chromosomes, Human, 21-22 and Y

Molecular Sequence Data

Base Sequence

Ring Chromosomes

Genetic Markers

Chromosome Inversion

Chromosome Positioning

Chromosomes, Human, 4-5

X Chromosome Inactivation

Centromere

Meiosis

Chromosomes, Insect

Translocation, Genetic

Hybrid Cells

Chromosome Structures

Chromosomes, Human, 19-20

Aneuploidy

Metaphase

Mitosis

Recombination, Genetic

Mutation

Microsatellite Repeats

Lod Score

Pedigree

Crosses, Genetic

Cloning, Molecular

Phenotype

DNA

Alleles

Amino Acid Sequence

Nucleic Acid Hybridization