Chromosomes
Chromosome Mapping
Chromosome Banding
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.
X Chromosome
Chromosome Aberrations
Sex Chromosomes
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)
Chromosomes, Human, Pair 1
Chromosomes, Human
Chromosomes, Bacterial
Chromosomes, Human, Pair 7
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 6
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
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
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.
Chromosomes, Human, 1-3
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 20
In Situ Hybridization, Fluorescence
Chromosomes, Human, 16-18
Chromosomes, Artificial, Yeast
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.
Genetic Linkage
Chromosomes, Human, 13-15
Chromosome Breakage
Chromosomes, Human, 21-22 and Y
Molecular Sequence Data
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.
Base Sequence
Genetic Markers
Chromosome Inversion
Chromosome Positioning
Chromosomes, Human, 4-5
X Chromosome Inactivation
Centromere
Meiosis
Translocation, Genetic
Hybrid Cells
Chromosomes, Human, 19-20
Aneuploidy
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).
Metaphase
Mitosis
Recombination, Genetic
Mutation
Microsatellite Repeats
Lod Score
Pedigree
Crosses, Genetic
Cloning, Molecular
Phenotype
DNA
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).
Alleles
Amino Acid Sequence
Nucleic Acid Hybridization
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)
Models, Genetic
Sequence Analysis, DNA
Nondisjunction, Genetic
Kinetochores
Chromosomes, Artificial, Human
Telomere
Blotting, Southern
Genotype
Genes
Chromosome Walking
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.
Polymerase Chain Reaction
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.
Chromosomal Proteins, Non-Histone
Haplotypes
Repetitive Sequences, Nucleic Acid
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).
Spindle Apparatus
Chromosomal Instability
Evolution, Molecular
Chromosome Fragility
DNA Probes
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.
DNA, Satellite
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.
Drosophila melanogaster
Diploidy
Plasmids
Heterozygote
Chromatids
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)
Multigene Family
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)
DNA-Binding Proteins
Mosaicism
Polyploidy
Gene Deletion
Polymorphism, Genetic
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.
Species Specificity
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.
Sequence Homology, Nucleic Acid
Polytene Chromosomes
Escherichia coli
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.
Nuclear Proteins
Gene Dosage
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.
Prophase
Interphase
Cell Cycle Proteins
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.
Saccharomyces cerevisiae
Loss of Heterozygosity
Karyotype
Cosmids
Cytogenetic Analysis
Chromatin
Cytogenetics
Transcription, Genetic
Genome, Human
Gene Rearrangement
Polymorphism, Restriction Fragment Length
DNA Transposable Elements
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.
DNA Primers
Polymorphism, Single Nucleotide
Chromosome Fragile Sites
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.)
Genetic Predisposition to Disease
Sequence Tagged Sites
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.
Sequence Homology, Amino Acid
Spermatocytes
Monosomy
Sex Chromosome Disorders
Genes, Dominant
Genome
Sequence Alignment
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.
Cell Nucleus
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)
Azure Stains
Contig Mapping
DNA Restriction Enzymes
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.
Philadelphia Chromosome
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).
Chromosome Breakpoints
Gene Duplication
Exons
Chromosomes, Archaeal
Haploidy
Genetic Loci
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.
Hybridization, Genetic
Drosophila
Base Pairing
Gene Amplification
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.
Genomic Imprinting
Sex Chromatin
Genes, Lethal
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, Complementary
Histones
Intellectual Disability
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)
Microtubules
Transcription Factors
Pachytene Stage
Sister Chromatid Exchange
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.
Chromosomes, Artificial
RNA, Messenger
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.
Gene Library
Nucleic Acid Conformation
Introns
Quantitative Trait, Heritable
Triticum
Biological Evolution
Euchromatin
Genomic Library
Interactions between Tat and TAR and human immunodeficiency virus replication are facilitated by human cyclin T1 but not cyclins T2a or T2b. (1/852)
The transcriptional transactivator (Tat) from the human immunodeficiency virus (HIV) does not function efficiently in Chinese hamster ovary (CHO) cells. Only somatic cell hybrids between CHO and human cells and CHO cells containing human chromosome 12 (CHO12) support high levels of Tat transactivation. This restriction was mapped to interactions between Tat and TAR. Recently, human cyclin T1 was found to increase the binding of Tat to TAR and levels of Tat transactivation in rodent cells. By combining individually with CDK9, cyclin T1 or related cyclins T2a and T2b form distinct positive transcription elongation factor b (P-TEFb) complexes. In this report, we found that of these three cyclins, only cyclin T1 is encoded on human chromosome 12 and is responsible for its effects in CHO cells. Moreover, only human cyclin T1, not mouse cyclin T1 or human cyclins T2a or T2b, supported interactions between Tat and TAR in vitro. Finally, after introducing appropriate receptors and human cyclin T1 into CHO cells, they became permissive for infection by and replication of HIV. (+info)Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1-2 polymorphism and contribution to founder effect. (2/852)
Spinocerebellar ataxia type 2 is a familial spinocerebellar ataxia with autosomal dominant inheritance. The gene responsible was recently cloned and this disorder was found to be the result of a CAG expansion in its open reading frame. We analysed 13 SCA2 patients in seven unrelated families in Gunma Prefecture, Japan. In four of the seven families, we detected CCG or CCGCCG interruptions in only the expanded alleles. Cosegregation of these polymorphisms with SCA2 patients was established within each family. Together with the results of haplotype analyses, we considered that at least two founders were present in our area and that these (CCG)1-2 polymorphisms may make analysis of founder effects easier. By sequencing analysis we found that although the number of the long CAG repeat varied in each subclone of expanded alleles, these polymorphisms did not change their configuration. This finding suggests that CCG or CCGCCG sequences are stable when surrounded by the long CAG repeat and a single CAG. Moreover, the presence of these polymorphisms may lead to miscounting the repeat size by conventional estimation using a size marker such as an M13 sequencing ladder. Therefore we should consider these polymorphisms and accurately determine the repeat size by sequencing. (+info)Unique forms of human and mouse nuclear receptor corepressor SMRT. (3/852)
Nuclear hormone receptors have been shown to repress transcription in the absence of ligand. This repression is mediated by a corepressor complex that contains the Sin3A protein and histone deacetylases (HDAC1 and 2). Studies by several groups demonstrate that this complex is recruited to nuclear receptors through the highly related corepressors SMRT (silencing mediator of retinoid acid and thyroid hormone receptor) and N-CoR (nuclear receptor corepressor). We describe here the cloning, characterization, and chromosomal mapping of forms of human and mouse SMRT that includes a 1,000-aa extension, which reveals striking homology to the amino terminus of N-CoR. Structure and function studies of wild-type and natural splicing variants suggest the presence of 3-4 amino terminal domains that repress in a cooperative as well as mechanistically distinct fashion. (+info)Structure and chromosomal assignment of the human lectin-like oxidized low-density-lipoprotein receptor-1 (LOX-1) gene. (4/852)
We have reported the cDNA cloning of a modified low-density-lipoprotein (LDL) receptor, designated lectin-like oxidized LDL receptor-1 (LOX-1), which is postulated to be involved in endothelial dysfunction and the pathogenesis of atherosclerosis. Here, we determined the organization of the human LOX-1 gene, including the 5'-regulatory region. The 5'-regulatory region contained several potential cis-regulatory elements, such as GATA-2 binding element, c-ets-1 binding element, 12-O-tetradecanoylphorbol 13-acetate-responsive element and shear-stress-responsive elements, which may mediate the endothelium-specific and inducible expression of LOX-1. The major transcription-initiation site was found to be located 29 nucleotides downstream of the TATA box and 61 nucleotides upstream from the translation-initiation codon. The minor initiation site was found to be 5 bp downstream from the major site. Most of the promoter activity of the LOX-1 gene was ascribed to the region (-150 to -90) containing the GC and CAAT boxes. The coding sequence was divided into 6 exons by 5 introns. The first 3 exons corresponded to the different functional domains of the protein (cytoplasmic, transmembrane and neck domains), and the residual 3 exons encoded the carbohydrate-recognition domain similar to the case of other C-type lectin genes. The LOX-1 gene was a single-copy gene and assigned to the p12.3-p13.2 region of chromosome 12. Since the locus for a familial hypertension has been mapped to the overlapping region, LOX-1 might be the gene responsible for the hypertension. (+info)Evaluation of trisomy 12 by fluorescence in situ hybridization in peripheral blood, bone marrow and lymph nodes of patients with B-cell chronic lymphocytic leukemia. (5/852)
BACKGROUND AND OBJECTIVE: Trisomy 12 is the most common numerical chromosomal aberration in patients with B-cell chronic lymphocytic leukemia (B-CLL). Fluorescence in situ hybridization (FISH) has improved the detection of this cytogenetic abnormality and has made detection possible in all phases of the cell cycle. The presence of the trisomy 12 positive (+12) cell population has generally been investigated in leukemic cells obtained from the peripheral blood of CLL patients. To ascertain whether trisomy 12 is expressed homogeneously in cells of different hemopoietic tissues, we applied FISH to lymph node, peripheral blood and bone marrow samples obtained simultaneously from 23 untreated B-CLL patients. DESIGN AND METHODS: Twenty-three newly diagnosed patients with B-CLL, 15 in stage B and 8 in stage C, were included in the present study. Peripheral blood smears, bone marrow aspirate smears and lymph node touch imprints were collected from each patient at diagnosis. Cytologic preparations were examined by light microscopy in order to assess the lymphocyte morphology. Immunophenotyping was performed by cytofluorimetric analysis of the peripheral blood, bone marrow and lymph node mononuclear cell suspensions. The diagnosis was supported in all cases by histologic findings in bone marrow biopsy and lymph node biopsy specimens. Fluorescence in situ hybridization was performed on smears of blood and aspirated bone-marrow and lymph node touch imprints obtained by fresh tissue apposition. RESULTS: In 6 of the 23 cases (26%) trisomy 12 was clearly present in all tissues examined. A comparative analysis of the three different hemopoietic tissues was performed. A higher percentage of leukemic CD5+CD23+ cells was detected in lymph nodes than in peripheral blood and bone marrow. A significantly higher proportion of trisomic cells was observed in lymph nodes samples than in peripheral blood or bone marrow smears of trisomy 12 positive CLL patients. INTERPRETATION AND CONCLUSIONS: Several previous reports show that only a proportion of malignant B-CLL cells carry trisomy 12 when analyzed by interphase FISH. The higher proportion of +12 cells in lymph nodes than in peripheral blood or bone marrow of CLL patients with trisomy 12 could reflect different cell distributions in different tissues, or lymph node specific tropism, or proliferative advantage in selected tissue. At present, the role of trisomy 12 in the pathogenesis of lymphoproliferative disorders is unclear. (+info)Association and linkage analysis of candidate chromosomal regions in multiple sclerosis: indication of disease genes in 12q23 and 7ptr-15. (6/852)
Four recent genome-wide screen studies in multiple sclerosis (MS) identified a number of candidate regions for susceptibility genes in addition to the HLA complex in 6p21. However, none of these regions provided formally significant evidence for genome-wide linkage. We have investigated such regions in 46 Swedish multiplex MS families, 28 singleton families, 190 sporadic MS patients and 148 normal controls by parametric and nonparametric linkage and association analysis. One microsatellite marker, in 12q23, provided evidence for association in addition to suggestive transmission distortion and slightly positive linkage. In addition, a marker in 7ptr-15 showed a significant transmission distortion as well as a highly significant score in affected pedigree member analysis, but not quite significant deviations in association analysis. One of three markers in 5p, a region implicated in all four previous studies, showed a weakly positive lod score, but no other evidence of importance. Markers in 2p23, 5q11-13, 6q25, 7q21-22, 11q21-23, 13q33-34, 16p13.2, 18p11.32-23, Xp21.3 provided little or no evidence of importance for MS. In summary, these data support the importance of genome-wide screens in the identification of new candidate loci in polygenic disorders. (+info)Structural organization and splice variants of the POLE1 gene encoding the catalytic subunit of human DNA polymerase epsilon. (7/852)
The catalytic subunit of human DNA polymerase epsilon, an enzyme involved in nuclear DNA replication and repair, is encoded by the POLE1 gene. This gene is composed of 51 exons spanning at least 97 kb of genomic DNA. It was found to encode three alternative mRNA splice variants that differ in their 5'-terminal sequences and in the N-termini of the predicted proteins. A CpG island covers the promoter region for the major transcript in HeLa cells. This promoter is TATA-less and contains several putative binding sites for transcription factors typical of S-phase-up-regulated and serum-responsive promoters. Potential promoter regions were also identified for the two other alternative transcripts. Interestingly, no nuclear polyadenylation signal sequence was detected in the 3'-untranslated region, although a poly(A) tail was present. These results suggest a complicated regulatory machinery for the expression of the human POLE1 gene, including three alternative transcripts expressed from three promoters. (+info)Pathogenesis of testicular germ cell tumours. (8/852)
Human germ cell tumours comprise a heterogeneous group of neoplasms. In the testis, three entities are distinguished, the teratomas-yolk sac tumours of the infantile testis, the seminomas and nonseminomas of adolescents and adults, and the spermatocytic seminomas. Studies on epidemiology, histology, clinical behaviour, and chromosomal constitution of these tumours support the concept of distinct entities derived from germ cells but each with a different pathogenesis. Either the teratomas of the infantile testis show no chromosomal aberrations, or display a pattern of over- and under-representation of (parts of) chromosomes as detected in the yolk sac tumours of the infantile testis. In contrast, the seminomas and nonseminomas reveal a consistent pattern of losses and gains, that is, chromosomes 11, 13 and 18, and 7, 8 and X, respectively, that is different from that found in the infantile testis teratomas and yolk sac tumours. The most consistent structural chromosomal abnormality is an isochromosome 12p. Tumours lacking i(12p) have other structural abnormalities of 12p, among them amplification of 12p11.2-p12.1. The pathogenetically relevant genes on 12p11.2-p12.1 are probably on a fragment of about 1.7 mb. Gain of 12p sequences may be related to invasive growth. Gain of chromosome 9 is the only consistent chromosomal anomaly of spermatocytic seminomas. Infantile teratomas and spermatocytic seminomas are benign tumours. Infantile yolk sac tumour is a malignant germ cell tumour. Seminomas and nonseminomas are malignant, and the most common cancer in young Caucasian males. The cure rate of seminomas and non-seminomas with radio- and chemotherapy is over 90%, which is higher than that of any other solid cancer in adults. In addition, the precursor lesions of these tumours can be treated readily, justifying efforts to develop means for early diagnosis. Finally, the pathogenetic relationship between seminomas and nonseminomas, and the available animal models for the three groups of testicular germ cell tumours are discussed. (+info)
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Chromosome 12
Gilbert F, Kauff N (2000). "Disease genes and chromosomes: disease maps of the human genome.Chromosome 12". Genet Test. 4 (3): ... Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 12: entries, gene ... The following is a partial list of genes on human chromosome 12. For complete list, see the link in the infobox on the right. ... The following are some of the gene count estimates of human chromosome 12. Because researchers use different approaches to ...
Coiled-coil domain-containing 37 (FLJ40083)
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 ...
Bacterial artificial chromosome
"Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector ... Cosmid End-sequence profiling Fosmid Human artificial chromosome Secondary chromosome Yeast artificial chromosome O'Connor M, ... BACs can also be utilized to detect genes or large sequences of interest and then used to map them onto the human chromosome ... "Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the ...
Opisthorchis viverrini
... six pairs) of chromosomes, i.e. 2n = 12. The draft genome and transcriptomes were published in 2014. Its genome is 634.5 MB in ... In humans,O. viverrini inhabits mainly the bile ducts, and rarely, the gall bladder and pancreatic duct. Heavy infection can ... The first human specimen was described by a British parasitologist Robert Thomson Leiper in 1915, but without knowing the exact ... The first human case was discovered by Robert Thomson Leiper in 1915. O. viverrini (together with Clonorchis sinensis and ...
Quercus robur
This is roughly a quarter of the size of the human genome, which has about 3 billion base pairs. Gernika Oak Knopper gall Oak ... Jays were overwhelmingly the primary propagators of oaks before humans began planting them commercially (and still remain the ... Quercus robur is a large deciduous tree, with circumference of grand oaks from 4 metres (13 feet) to an exceptional 12 m (39 ft ... Retrieved 2018-03-12. Smith, Steve. "The National Inventory of Woodland and Trees - England" (PDF). UK: Forestry Commission. ...
CD99
"Homologous expressed genes in the human sex chromosome pairing region". Nature. 317 (6039): 739-41. Bibcode:1985Natur.317..739B ... CD99+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) Human CD99 genome location and CD99 ... a gene shared by the human X and Y chromosomes". Cold Spring Harb. Symp. Quant. Biol. 51 (1): 205-12. doi:10.1101/SQB.1986.051. ... Genes on human chromosome X, Clusters of differentiation). ... Unusually for a gene present on the X chromosome, the CD99 gene ...
C12orf40
In humans, the gene for C12orf40 is located on chromosome 12. There are 13 exons in the canonical isoform that is transcribed ... into an mRNA of 2797 base pairs. Three other isoforms have been isolated. Homologs exist as distant as the green sea turtle and ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 12, Chromosomes, Protein ... The human C12orf40 protein is 652 amino acids in length. Its molecular weight is predicted to be 74.52 kDa, and its isoelectric ...
Chimpanzee genome project
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 ...
C11orf86
Chromosome 11 open reading frame 86, also known as C11orf86, is a protein-coding gene in humans. It encodes for a protein known ... C11orf86 is located on the long arm of chromosome 11 at 11q13.2. It consists of 1732 base pairs, and is found on the plus ... "C11orf86 chromosome 11 open reading frame 86 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2016-05-09 ... The transcript used for this article is made up of two exons, amounting to 1185 base pairs, and has the reference number NM_ ...
DBX2
v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 12, Wikipedia articles ... Homeobox protein DBX2, also known as developing brain homeobox protein 2, is a protein that in humans is encoded by the DBX2 ... incorporating text from the United States National Library of Medicine, All stub articles, Human chromosome 12 gene stubs). ... DBX2 is located on chromosome 12 and is approximately 36,000 base pairs long. DBX2 is predicted to enable DNA-binding ...
Dystrobrevin
The human β-dystrobrevin gene was localized to the short arm of chromosome 2. Pair-wise comparison between α- and β- ... Genes on human chromosome 18, Genes on human chromosome 2). ... The human α-dystrobrevin gene is localized to chromosome 18 and ... In human, the Duchenne muscular dystrophy is a well-known muscle disease which highlights the importance of dystrophin/ ... In humans, there are at least two isoforms of dystrobrevin, dystrobrevin alpha and dystrobrevin beta. Dystrobrevins are members ...
ERBB3
The human ERBB3 gene is located on the long arm of chromosome 12 (12q13). It is encoded by 23,651 base pairs and translates ... During human development, ERBB3 is expressed in skin, bone, muscle, nervous system, heart, lungs, and intestinal epithelium. ... Receptor tyrosine-protein kinase erbB-3, also known as HER3 (human epidermal growth factor receptor 3), is a membrane bound ... ERBB3 is expressed in normal adult human gastrointestinal tract, reproductive system, skin, nervous system, urinary tract, and ...
FAM71F2
The gene paralog FAM71F1 and the gene LINC01000 directly neighbor FAM71F2 on chromosome 7. The gene spans 30,627 base pairs and ... FAM71F2 gene is located on chromosome 7 in humans (7q32.1), starting at 128,671,636 and ending at 128,702,262 on the positive ... The time of divergence between eight orthologs from the human FAM71F2 is shown in Figure 5. It is not found in birds or in ... Isoform a is the longest of the mRNA transcripts and spans 5,775 base pairs that translates into a 309 amino acids sequence. It ...
Duffy antigen system
Genes on human chromosome 1, All articles with unsourced statements, Articles with unsourced statements from January 2021, ... The mouse gene has two exons (100 and 1064 nucleotides in length), separated by a 461 base pair intron. In the mouse DARC is ... is located on the long arm of chromosome 1 (1.q22-1.q23) and was cloned in 1993. The gene was first localised to chromosome 1 ... DARC+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH) Duffy at BGMUT Blood Group Antigen ...
CTNS (gene)
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, ... 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). ... The most common mutation is a 57,257 base pair deletion commonly referred to as the 57 kb deletion. This was formally known as ...
Dopamine receptor D4
The 48-base pair VNTR has been the subject of much speculation about its evolution and role in human behaviors cross-culturally ... The human protein is coded by the DRD4 on chromosome 11 located in 11p15.5. There are slight variations (mutations/ ... polymorphisms) in the human gene: A 48-base pair VNTR in exon 3 C-521T in the promoter 13-base pair deletion of bases 235 to ... Genes on human chromosome 11, Wikipedia articles needing clarification from December 2018, Wikipedia articles incorporating ...
C12orf66
... variant 1 is 36 Mbp in length spanning the base pairs 64,186,312 - 64,222,296 on chromosome 12. There are 3 total ... The human C12orf66 protein is 446 amino acids in length with a molecular weight of 50kdal . C12orf66 contains the domain of ... C12orf66 is a protein that in humans is encoded by the C12orf66 gene. The C12orf66 protein is one of four proteins in the ... "C12orf66 chromosome 12 open reading frame 66 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-02-25 ...
Monosomy
Partial monosomy occurs when a portion of one chromosome in a pair is missing. Human conditions due to monosomy: Turner ... Monosomy is a form of aneuploidy with the presence of only one chromosome from a pair. ... People with Turner syndrome typically have one X chromosome instead of the usual two X chromosomes. Turner syndrome is the only ... a partial monosomy caused by a deletion of the end of the short arm of chromosome 5 1p36 deletion syndrome - a partial monosomy ...
SMCO3
Genes on human chromosome 12, Proteins). ... The mRNA transcript of SMCO3 is 2,104 base pair long. There are ... The promoter region of SMCO3 is 1,100 base pairs long and begins 961 base pairs upstream of the 5' UTR with the end of the ... Single-pass membrane and coiled-coil domain-containing protein 3 is a protein that is encoded in humans by the SMCO3 gene. ... The amino acid sequence of SMCO3 is highly conserved compared to other human proteins. There is dramatically lower levels of ...
UPF0602
... is a protein in humans that is encoded by the chromosome 4 open reading frame 47 (c4orf47) gene. The c4orf47 gene is ... positioned at 4q35.1 on the plus strand and spans 44,602 base pairs in length (185,405,227...185,449,828). The gene is made up ... Retrieved 4 October 2021.{{cite web}}: CS1 maint: url-status (link) "C4orf47 chromosome 4 open reading frame 47 [Homo sapiens ( ... 2 July 2021.{{cite journal}}: CS1 maint: url-status (link) "Homo sapiens chromosome 4 open reading frame 47 (C4orf47), ...
Daphnia pulex
Parthenogenesis appears to involve initial meiotic chromosome pairing. During both cyclic and obligate parthenogenesis a polar ... Its genome contains 31,000 genes - 8,000 more than are present in the human genome - as a result of extensive gene duplication ... It bears the mouthparts, and two pairs of antennae, the second pair of which is enlarged into powerful organs used for swimming ... It can only be recognised by its appendages (only ever one pair per segment), and by studying its internal anatomy. The head is ...
C15orf52
Chromosome 15 open reading frame 52 is a human protein encoded by the C15orf52 gene, its function is poorly understood. ... The linear mRNA is 5344 base pairs long. The mRNA contains a short 5' untranslated region of 15 base pairs and a long 3' ... C15orf52 is a gene located on the reverse strand of chromosome 15 in the species Homo sapiens at locus 15q15.1. The gene is ... Glycine and Arginine were found at higher frequencies than other proteins in humans. The isoelectric point of the protein is ...
Phosphate carrier protein, mitochondrial
Source attribution, Articles with imported freely licensed text, Genes on human chromosome 12, Wikipedia articles incorporating ... The SLC25A3 gene is located on the q arm of chromosome 12 in position 23.1 and spans 8,376 base pairs. The gene has 9 exons and ... Phosphate carrier protein, mitochondrial is a protein that in humans is encoded by the SLC25A3 gene. The encoded protein is a ... Huizing M, Ruitenbeek W, van den Heuvel LP, Dolce V, Iacobazzi V, Smeitink JA, Palmieri F, Trijbels JM (June 1998). "Human ...
C1orf159
... is a protein that in human is encoded by the C1orf159 gene located on chromosome 1. This gene is also found to be an ... The gene is 34,247 base pairs in length, located at Chromosome 1 position 1,081,818 to 1,116,089 on the reverse strand. The ... Articles with short description, Short description is different from Wikidata, Genes on human chromosome 1, All articles with ... The isoelectric point of the human C1orf159 protein is 10.07, which is more basic than the average human proteomic protein pI ...
ALDH2
Aldehyde dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH2 gene located on chromosome 12. This ... Portal: Biology (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 12, ... ALDH2 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH) Human ALDH2 genome location and ... "The structural gene for the mitochondrial aldehyde dehydrogenase maps to human chromosome 12". Hum. Genet. 73 (4): 365-7. doi: ...
Haplogroup O-M175
... genetic genealogy Haplogroup Haplotype Human Y-chromosome DNA haplogroup molecular phylogeny Paragroup Subclade Y-chromosome ... Cox MP, Mirazón Lahr M (January 2006). "Y-chromosome diversity is inversely associated with language affiliation in paired ... Haplogroup O, also known as O-M175, is a human Y-chromosome DNA haplogroup. It is primarily found among populations in ... "Y-Chromosome Evidence for a Northward Migration of Modern Humans into Eastern Asia during the Last Ice Age". The American ...
H2AFJ
v t e (Articles with short description, Short description is different from Wikidata, Genes on human chromosome 12, All stub ... Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core ... Histone H2A.J is a protein that in humans is encoded by the H2AFJ gene. Histones are basic nuclear proteins that are ... This gene is located on chromosome 12 and encodes a variant H2A histone. The protein is divergent at the C-terminus compared to ...
List of organisms by chromosome count
Animals Plants Other Eukaryotes Karyotype of a human being. It shows 22 homologous autosomal chromosome pairs, both the female ... Stebbins GL (1950). "Chapter XII: The Karyotype". Variation and evolution in plants. Columbia University Press. King RC, ... As other non-human extant hominidae have 48 chromosomes it is believed that the human chromosome 2 is the result of the merging ... "Evidence for an ancestral alphoid domain on the long arm of human chromosome 2". Human Genetics. 89 (2): 247-9. doi:10.1007/ ...
BHLHE41
... was mapped to human chromosome 12: 26,120,026-26-125-127 reverse strand and has a total length of 5,101 base pairs. The ... BHLHE41-001 contains 5 coding exons, has a transcript length of 3,837 base pairs, and encodes the 482 amino acid BHLHE41 ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 12, Wikipedia articles ... Human BHLHE41 genome location and BHLHE41 gene details page in the UCSC Genome Browser. This article incorporates text from the ...
PRR29
Genes on human chromosome 17, Protein pages needing a picture, Human gene pages with Wikidata item, All stub articles, Human ... 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 ...
Uridine monophosphate synthase
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 ...
Strømme syndrome
... is caused by mutations in both copies of the CENPF gene, located on the long arm of chromosome 1. CENPF codes ... They are made by the centrosome, which contains a pair of cylindrical centrioles at right-angles to each other. Before division ... Badano JL, Mitsuma N, Beales PL, Katsanis N (1 September 2006). "The ciliopathies: an emerging class of human genetic disorders ... Filges I, Stromme P (January 2020). "CUGC for Stromme syndrome and CENPF-related disorders". European Journal of Human Genetics ...
TENM3
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). ...
Sex determination in Silene
Biologists have found that sex chromosomes in plants originated from pairs of autosomes. As these chromosomes diverge from ... The system for determining sex in Silene latifolia is close to that found in humans because in both cases the Y chromosome ... In the case of Silene, the pair of automsomal chromosomes are transformed into heteromorphic sex-determining chromosomes ... pair during female meiosis. Contrastingly, recombination is suppressed across most of the Y chromosomes during pairing in male ...
Genome size
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 ...
Iris songarica
It has 2 pairs of petals, 3 large sepals (outer petals), known as the 'falls' and 3 inner, smaller petals (or tepals, known as ... It has a chromosome count: 2n=20. It was also counted as 2n=22, 44 by (Zahareva and Makeushenko 1968) and (Fedorov 1969). It is ... Some of these compounds had some antioxidant activity in certain cells and some effected yeast cells expressing human estrogen ... As most irises are diploid, having two sets of chromosomes. This can be used to identify hybrids and classification of ...
Promoter (genetics)
"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- ...
Tetratricopeptide repeat protein 39B
Genes on human chromosome 9). ... It has a length of 750 base pairs. The transcription start site ... The promoter for TTC39B starts at base pair 15,307,109 and ends at base pair 15,307,858. ... The gene for TTC39B is located on the short arm of the ninth chromosome at 9p22.3. The genomic DNA is 136,517 bases long, ... On a locus on chromosome 9p22 found to be associated with high-density lipoprotein (HDL-C), TTC39B was the only one of several ...
Mitochondrial DNA
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. ...
ZTTK syndrome
"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 ...
Cell cycle
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 ...
CD96
Articles with short description, Short description matches Wikidata, Genes on human chromosome 3, All articles with unsourced ... Martinet L, Smyth MJ (April 2015). "Balancing natural killer cell activation through paired receptors". Nature Reviews. ... Human chromosome 3 gene stubs, Wikipedia articles incorporating text from the United States National Library of Medicine). ... CD96 (Cluster of Differentiation 96) or Tactile (T cell activation, increased late expression) is a protein that in humans is ...
Timeline of human evolution
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 ...
Short interspersed nuclear element
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, ...
C17orf78
There are no known paralogs of this gene in humans. "C17orf78 chromosome 17 open reading frame 78 [Homo sapiens (human)] - Gene ... 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 ... The name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The ... C17orf78 (Chromosome 17 Open Reading Frame 78) is found on the long arm cytogenetic band 17q12. The genomic sequence spans from ...
LECT2
The human LECT2 gene, LECT2, is located on the long, i.e, "q", arm of chromosome 5 at position q31.1 (notated as 5q31.1). This ... Human LECT2 is composed of 4 exons, 3 introns, and ~8,000 base pairs. The gene has numerous single nucleotide variants as well ... 2004). "The DNA sequence and comparative analysis of human chromosome 5". Nature. 431 (7006): 268-74. doi:10.1038/nature02919. ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 5). ...
Parascaris univalens
... univalens has one pair of chromosomes and P. equorum has two pairs. However, new genomic research suggests that both Parascaris ... These worms are host-specific to equines and cannot infect humans or other animals. P. univalens is a model organism for ... The species are distinguished by the number of chromosomes. Karyotyping is the only way to differentiate between the two: P. ... Both species are model organisms for chromosome organization and cell division. The species is yellow-white in color, with ...
Histone H2B
All of these genes are located in histone cluster 1 on chromosome 6 and cluster 2 and cluster 3 on chromosome 1. In each gene ... There are sixteen variants of histone H2B found in humans, thirteen of which are expressed in regular body cells and three of ... DNA is then wrapped around the entire nucleosome in groups of approximately 160 base pairs of DNA. The wrapping continues until ... It plays an important role in the biology of the nucleus where it is involved in the packaging and maintaining of chromosomes, ...
Keratin 16
Genes on human chromosome 17, Keratins, All stub articles, Human chromosome 17 gene stubs). ... Keratin 16 is a protein that in humans is encoded by the KRT16 gene. Keratin 16 is a type I cytokeratin. It is paired with ... "A group of type I keratin genes on human chromosome 17: characterization and expression". Mol. Cell. Biol. 8 (2): 722-36. doi: ... "Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12". Cytogenet. Cell Genet. 57 (1): 33- ...
Inbreeding
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 ...
Isocitrate dehydrogenase
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 ...
Wasp
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. ...
C3orf62
Genes on human chromosome 3, Protein pages needing a picture, Human gene pages with Wikidata item). ... C3orf62 starts at 49,268,597 base pairs from the terminus of the short arm (pter) and ending at 49,277,909 base pairs pter. ... Chromosome 3 Open Reading Frame 62 (C3orf62), is a protein that in humans is encoded by the C3orf62 gene. C3orf62 is a glycine ... C3orf62 human protein (Q6ZUJ4) is 267 amino acids long, and has a molecular mass of 30,194 Daltons. The isoelectric point of ...
Animal psychopathology
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 ...
HLA A1-B8-DR3-DQ2
... is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6 (not to be ... 1 million base pairs centromeric from DQ2.5 may also be associated with Type 1 diabetes. In addition the BAT1 and MICB variant ... CS1 French-language sources (fr), CS1 German-language sources (de), Human MHC haplogroups, Human MHC mediated diseases, Human ... These unique chromosomes are produced by recombination of each unique chromosome passed by each grandparent to each parent. ...
Classical genetics
These paired genes that control the same trait is classified as an allele. In an individual, the allelic genes that are ... Genes are a fundamental part of DNA that is aligned linearly on a eukaryotic chromosome. Chemical information that is ... human genetics, medical genetics, and much more. Thus, reinforcing Mendel's nickname as the father of modern genetics. In other ... Many pairs of alleles have differing effects that are portrayed in an offspring's phenotype and genotype. The phenotype is a ...
Multiplex ligation-dependent probe amplification
For example, probes may be designed to target various regions of chromosome 21 of a human cell. The signal strengths of the ... Pairs of probes are hybridized to the sample DNA, with each probe pair designed to query for the presence of a particular DNA ... to give the PCR product a unique length when compared to other probe pairs in the MLPA assay. Each complete probe pair must ... Although dosage quotients may be calculated for any pair of amplicons, it is usually the case that one of the pair is an ...
Short-beaked echidna
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, ... Memoirs of the Australian Museum 6: i-xii, 1-122 "ADW: Tachyglossus: Classification". Animaldiversity.ummz.umich.edu. Retrieved ... for humans. This part of the brain in humans is thought to be used for planning and analytical behaviour, leading to debate as ...
Sex-chromosome dosage compensation
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 ...
Microtubule
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 ...
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
Chromosomes, Human, Pair 12 / genetics * Consanguinity * Cytoskeletal Proteins * Exons / genetics * Homozygote * Humans ... 1 Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands. [email protected] ...
Chromosome 12: MedlinePlus Genetics
... base pairs) and represents between 4 and 4.5 percent of the total DNA in cells. Learn about health implications of genetic ... Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 12, one copy inherited from ... Gilbert F, Kauff N. Disease genes and chromosomes: disease maps of the human genome.Chromosome 12. Genet Test. 2000;4(3):319-33 ... Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a ...
Lifestyle Matters
We have 23 pairs of chromosomes for a total of 46 chromosomes; we inherit half of them from each parent. Even though all humans ... There are at least twelve organelles in our cell. Lets look at some of them. Every human cell has a cellular membrane ... I hope that soon well be able to translate animal data to humans; still, a human is not a mouse. ... At the end of each chromosome is a telomere, that is the protective DNA protein. A cell can divide only about forty to sixty ...
Akhilesh Pandey - Research output - Mayo Clinic
Chromosome-centric human proteome project (C-HPP): Chromosome 12. Chaiyarit, S., Singhto, N., Chen, Y. J., Cheng, C. Y., ... Human Protein Reference Database and Human Proteinpedia as resources for phosphoproteome analysis. Goel, R., Harsha, H. C., ... Human protein reference database and human proteinpedia as discovery resources for molecular biotechnology. Goel, R., Muthusamy ... Unraveling the human interactome: Lessons from the yeast. Navarro, J. D. & Pandey, A., Apr 2004, In: Drug Discovery Today: ...
Human homeo box-containing genes located at chromosome regions 2q31→2q37 and 12q12→12q13<...
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- ...
Whole Chromosome Instability induces senescence and promotes SASP | Scientific Reports
To determine the consequences of whole chromosome instability (W-CIN) we down-regulated the spindle assembly checkpoint ... Age-related accumulation of ploidy changes is associated with decreased expression of genes controlling chromosome segregation ... for human chromosome 9 and RP11-51C9 (12p12) and RP11-35G5 (12q14) for human chromosome 12. After overnight hybridization of ... The combined use of two pairs of probes specific for chromosome 9 (yellow and green signals in Fig. 3a) and chromosome 12 (blue ...
Chromosomes, Human, Pair 19 | Profiles RNS
Human, Pair 19" by people in this website by year, and whether "Chromosomes, Human, Pair 19" was a major or minor topic of ... A specific pair of GROUP F CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 19" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 19" by people in Profiles. ...
Chromosomes, Human, Pair 4 | Profiles RNS
Human, Pair 4" by people in this website by year, and whether "Chromosomes, Human, Pair 4" was a major or minor topic of these ... A specific pair of GROUP B CHROMOSOMES of the human chromosome classification. ... "Chromosomes, Human, Pair 4" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Below are the most recent publications written about "Chromosomes, Human, Pair 4" by people in Profiles. ...
Atypical Scrapie Prions from Sheep and Lack of Disease in Transgenic Mice Overexpressing Human Prion Protein - Volume 19,...
... by using 84 FVB-specific PCR microsatellite markers covering 19 chromosomes at ≈20-cM intervals, to select breeding pairs ... Selected congenic pairs were interbred to remove the endogenous murine PrP gene and to establish homozygosity of the human PrP ... Collinge J, Whitfield J, McKintosh E, Beck J, Mead S, Thomas DJ, Kuru in the 21st century-an acquired human prion disease with ... Wadsworth JD, Powell C, Beck JA, Joiner S, Linehan JM, Brandner S, Molecular diagnosis of human prion disease. Methods Mol Biol ...
Meet Pat Cipollone, former Trump counsel testifying before the Jan. 6 committee : NPR
Frontiers | COVID-19 Mechanisms in the Human Body-What We Know So Far
viral properties, tissue-tropism and organ-specific pathogenesis, involvement of physiological systems, and the human immune ... and the human immune response against the infection. The vastly accumulated scientific knowledge on all aspects of COVID-19 has ... human tissue organoids, and animal models, targeted to various aspects of the disease, viz., viral properties, tissue tropism ... we narrate the progress made since the commencement of the pandemic regarding the knowledge on COVID-19 mechanisms in the human ...
myExperiment - Workflows - NCBI Gi to Kegg Pathways (Paul Fisher) [Taverna 1 Workflow]
Chromosomes, Human, Pair 7 | Profiles RNS
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. ...
Genetic Contribution to Initial and Progressive Alcohol Intake Among Recombinant Inbred Strains of Mice<...
Chromosomes, Human, Pair 8 Medicine & Life Sciences 8% * Chromosomes, Human, Pair 4 Medicine & Life Sciences 8% ... Multiple suggestive QTLs for alcohol intake on chromosomes (Chrs) 2, 6, and 12 were identified for the first 4 h exposure. ... Multiple suggestive QTLs for alcohol intake on chromosomes (Chrs) 2, 6, and 12 were identified for the first 4 h exposure. ... Multiple suggestive QTLs for alcohol intake on chromosomes (Chrs) 2, 6, and 12 were identified for the first 4 h exposure. ...
EvC Forum: DNA similarity between Chimpanzee and Human 70%
1) Referenced (subject) chromosome is Human chromosome. 2) It takes 500 subsequences from Chimp chromosome each 300 bases long ... each 300 base pairs long. After dropping any slices that contained unknown sequence (i.e. Ns), I had 471 test sequences. I ... It just says how many 300 (or more) bases long similar subsequences of Chimp chromosome was found in Human chromosome.. ... But I know that human Y chromosome is most diverse. So I will wait for results of other chromosomes.. ...
Human immune interferon gene is located on chromosome 12. | Journal of Experimental Medicine | Rockefeller University Press
... was used to chromosomally map the IFN-gamma gene by detecting human IFN-gamma ... A cDNA clone for human immune interferon (IFN-gamma) gene sequences, plasmid p69, ... IFN-gamma gene by correlating the human chromosomes present in these hybrids with the human specific 8.8 and 2.0 kilobase pair ... Human immune interferon gene is located on chromosome 12. S L Naylor, S L Naylor ...
Accumulation of pathological tau species and memory loss in a conditional model of tauopathy - Fingerprint
- Experts...
DeepVariant: Highly Accurate Genomes With Deep Neural Networks - Google AI Blog
... for humans this is 3 billion paired bases (guanine, cytosine, adenine and thymine) organized into 23 pairs of chromosomes. ... A: a true SNP on one chromosome pair, B: a deletion on one chromosome, C: a deletion on both chromosomes, D: a false variant ... A key question is how to use the reads to determine whether there is a variant on both chromosomes, on just one chromosome, or ... This paired set of releases provides a smooth ramp for users to explore and evaluate the capabilities of DeepVariant in their ...
Aaron Janowsky - Publications
- Oregon Health & Science University
Chromosomes, Human, Pair 10 35% * Quantitative Trait Loci 34% 7 Scopus citations ... Methamphetamine use alters human plasma extracellular vesicles and their microRNA cargo: An exploratory study. Sandau, U. S., ... Genetic polymorphisms affect mouse and human trace amine-associated receptor 1 function. Shi, X., Walter, N. A. R., Harkness, J ... Rigid adenine nucleoside derivatives as novel modulators of the human sodium symporters for dopamine and norepinephrine. ...
DNA and Chromosomes
Recombinant human DNA polymerase η (hpol η) can replicate oligonucleotide templates containing 1,N6-ϵdA. In steady-state ... When copying DNA, DNA polymerases not only select the base of the incoming dNTP to form a Watson-Crick pair with the template ... The majority of human DNA polymerases have been reported to misinsert ribonucleotides into genomes. However, only PrimPol, DNA ... The abundant DNA adduct N7-methyl deoxyguanosine contributes to miscoding during replication by human DNA polymerase η. Journal ...
Psych 111 Practice Test 2 - ProProfs Quiz
How many pairs of chromosomes are in a normal human?. *. A. 23 ... According to the Human Genome Project, how many genes do humans ... The male has two X chromosomes and the Female has an X and Y chromosome. ... Cystic Fibrosis has a disease concordance of 100%. In a pair of monozygotic twins, if one twin has cystic fibrosis, the other ...
Dynamic Distribution of SeqA Protein across the Chromosome of Escherichia coli K-12<...
Chromosomes, Human, Pair 12 Medicine & Life Sciences 35% View full fingerprint Cite this. * APA ... Dynamic Distribution of SeqA Protein across the Chromosome of Escherichia coli K-12. In: mBio. 2010 ; Vol. 1, No. 1. pp. e00012 ... Dynamic Distribution of SeqA Protein across the Chromosome of Escherichia coli K-12. mBio. 2010 May 18;1(1):e00012-10-e00012-10 ... Dynamic Distribution of SeqA Protein across the Chromosome of Escherichia coli K-12. / Sanchez-Romero, MA; Busby, Stephen; Dyer ...
Publication : USDA ARS
Interpretive Summary: We report a detailed high-resolution map of a 5.5 million base pair region on pig chromosome 6q1.2, which ... Comparative mapping of the porcine BAC/PAC contig with respect to the gene-rich region on the human chromosome 19q13.1 map ... Title: GENERATION OF A 5.5 MB BAC/PAC CONTIG OF PIG CHROMOSOME 6Q1.2 AND ITS INTEGRATION WITH EXISTING RH, GENERTIC AND ... Three major differences in DNA content between human and pig are found in two large intergenic regions and in one region of a ...
DeCS
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.. ... A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. ... Chromosomes, Human, Pair 12 - Preferred Concept UI. M0004420. Scope note. ... Chromosomes, Human, Pair 9 [A11.284.187.520.300.325.345] Chromosomes, Human, Pair 9 ...
The neuronal transporter gene SLC6A15 confers risk to major depression. - Nuffield Department of Population Health
Our convergent data from human genetics, expression studies, brain imaging, and animal models suggest a pathophysiological ... Risk allele carrier status in humans and chronic stress in mice were associated with a downregulation of the expression of this ... Adult, Amino Acid Transport Systems, Neutral, Analysis of Variance, Animals, Aspartic Acid, Chromosomes, Human, Pair 12, ... Risk allele carrier status in humans and chronic stress in mice were associated with a downregulation of the expression of this ...
Human homeo box-containing genes located at chromosome regions 2q31→2q37 and 12q12→12q13<...
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- ...
Genetics, Inheritance and the Human Genome
Inside the nucleus of all your body cells are 23 pairs of chromosomes. Each chromosome carries hundreds to thousands of genes ... Inheritance of Traits (Humans) - Matching. Inheritance of Traits in Humans - Critical Thinking. Punnetts Square Activity - ... These scientists recognized that the sequence of the human genome belonged to every human being and placed all of the sequence ... The decoding of the 3 billion DNA letters of the human genome is the result of one of the most ambitious scientific projects of ...
Science is the belief in the ignorance of experts - Daniel Lemire's blog
... experts and textbooks told you that human beings have 24 pairs of chromosomes, even though there were always 23 pairs. ... If someone tells you that there are 24 pairs of chromosomes, you have a duty to ask "how do they know?", "how would I find out ... To use one of your examples, in 1955 it was not easy to "see with a microscope that there were 23 pairs" of chromosomes. Tjio ... I think the Martian canals are analogous to the 48/46 chromosome problem. It was hard to count the number of chromosomes, and ...
Publications | Max Planck Institute
The method involves assessing the genetic similarity of many sibling pairs along the lengths of all their chromosomes and ... Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12-q11. Human Molecular Genetics, 12(24 ... and an MLS of 2.53 in all 87 affected sib-pair families. An area on chromosome 16p near the telomere was the next most ... in affected-sib-pair analysis of our schizophrenia dataset (241 sibling pairs), we found linkage to schizophrenia for paternal ...
Localization of a hereditary neuroblastoma predisposition gene to 16p12-p13<...
keywords = "Chromosome, human, pair 16, Genes, suppressor, tumor, Genetics, Linkage, Neuroblastoma",. author = "Weiss, {Matthew ... A single genomic interval at chromosome bands 16p12-p13 was consistent with linkage (lod = 3.46), and identification of ... A single genomic interval at chromosome bands 16p12-p13 was consistent with linkage (lod = 3.46), and identification of ... A single genomic interval at chromosome bands 16p12-p13 was consistent with linkage (lod = 3.46), and identification of ...