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
A genome search identifies major quantitative trait loci on human chromosomes 3 and 4 that influence cholesterol concentrations in small LDL particles. (1/1292)
Small, dense LDL particles are associated with increased risk of cardiovascular disease. To identify the genes that influence LDL size variation, we performed a genome-wide screen for cholesterol concentrations in 4 LDL size fractions. Samples from 470 members of randomly ascertained families were typed for 331 microsatellite markers spaced at approximately 15 cM intervals. Plasma LDLs were resolved by using nondenaturing gradient gel electrophoresis into 4 fraction sizes (LDL-1, 26.4 to 29.0 nm; LDL-2, 25.5 to 26.4 nm; LDL-3, 24.2 to 25.5 nm; and LDL-4, 21.0 to 24.2 nm) and cholesterol concentrations were estimated by staining with Sudan Black B. Linkage analyses used variance component methods that exploited all of the genotypic and phenotypic information in the large extended pedigrees. In multipoint linkage analyses with quantitative trait loci for the 4 fraction sizes, only LDL-3, a fraction containing small LDL particles, gave peak multipoint log10 odds in favor of linkage (LOD) scores that exceeded 3.0, a nominal criterion for evidence of significant linkage. The highest LOD scores for LDL-3 were found on chromosomes 3 (LOD=4.1), 4 (LOD=4.1), and 6 (LOD=2.9). In oligogenic analyses, the 2-locus LOD score (for chromosomes 3 and 4) increased significantly (P=0.0012) to 6.1, but including the third locus on chromosome 6 did not significantly improve the LOD score (P=0.064). Thus, we have localized 2 major quantitative trait loci that influence variation in cholesterol concentrations of small LDL particles. The 2 quantitative trait loci on chromosomes 3 and 4 are located in regions that contain the genes for apoD and the large subunit of the microsomal triglyceride transfer protein, respectively. (+info)SAG, a novel zinc RING finger protein that protects cells from apoptosis induced by redox agents. (2/1292)
SAG (sensitive to apoptosis gene) was cloned as an inducible gene by 1,10-phenanthroline (OP), a redox-sensitive compound and an apoptosis inducer. SAG encodes a novel zinc RING finger protein that consists of 113 amino acids with a calculated molecular mass of 12.6 kDa. SAG is highly conserved during evolution, with identities of 70% between human and Caenorhabditis elegans sequences and 55% between human and yeast sequences. In human tissues, SAG is ubiquitously expressed at high levels in skeletal muscles, heart, and testis. SAG is localized in both the cytoplasm and the nucleus of cells, and its gene was mapped to chromosome 3q22-24. Bacterially expressed and purified human SAG binds to zinc and copper metal ions and prevents lipid peroxidation induced by copper or a free radical generator. When overexpressed in several human cell lines, SAG protects cells from apoptosis induced by redox agents (the metal chelator OP and zinc or copper metal ions). Mechanistically, SAG appears to inhibit and/or delay metal ion-induced cytochrome c release and caspase activation. Thus, SAG is a cellular protective molecule that appears to act as an antioxidant to inhibit apoptosis induced by metal ions and reactive oxygen species. (+info)Role of amplified genes in the production of autoantibodies. (3/1292)
A variety of previously published studies have shown the presence of autoantibodies directed against oncogenic proteins in the sera of patients with tumors. Generally the underlying genetic aberration responsible for the induction of an immune response directed against an abnormal protein is unknown. In our studies we analyzed the role of gene amplification in the production of autoantibodies in squamous cell lung carcinoma. We screened a cDNA expression library with autologous patient serum and characterized the isolated cDNA clones encoding tumor expressed antigens termed LCEA (lung carcinoma expressed antigens). As determined by sequence analysis, the 35 identified cDNA clones represent 19 different genes of both known and unknown function. The spectrum of different clones were mapped by polymerase chain reaction (PCR) and fluorescence in-situ hybridization, showing that a majority are located on chromosome 3, which is frequently affected by chromosomal abnormalities in lung cancer. Gene amplification of 14 genes was analyzed by comparative PCR. Nine genes (65% of all analyzed genes) were found to be amplified; furthermore, most of them are also overrepresented in the pool of cDNA clones, suggesting an overexpression in the corresponding tumor. These results strongly suggest that gene amplification is one possible mechanism for the expression of immunoreactive antigens in squamous cell lung carcinoma. (+info)Loss of heterozygosity at 3p14.2 in clear cell renal cell carcinoma is an early event and is highly localized to the FHIT gene locus. (4/1292)
The VHL tumor suppressor gene (TSG) at 3p25-26 is strongly implicated in the pathogenesis of clear cell renal cell carcinoma (cRCC). In addition, 3p14.2 and 3p21 are suspected of harboring additional TSGs in cRCC, with FHIT being a candidate TSG at 3p14.2. We examined 87 microdissected, histologically well-defined cRCCs classified according to tumor-node-metastasis (TNM) stage (stage 1, 23 cases; stage 2, 14 cases; stage 3, 24 cases; stage 4, 26 cases) and Fuhrman grade (grade 1, 24 cases; grade 2, 19 cases; grade 3, 19 cases; grade 4, 8 cases; sarcomatoid cRCC, 17 cases) for loss of heterozygosity (LOH) at 3p14.2 and 3p25-26 using a series of precisely mapped microsatellite probes. We found that LOH at 3p14.2 exceeded LOH at 3p25-26 in frequency (69% versus 48.3%; P < 0.03) and was highly localized to markers within the FHIT gene locus (D3S1300 and D3S4260), with the majority of chromosomal breakpoints also mapping to this region. In addition, 3p14.2 LOH (P < 0.03), but not 3p25-26 LOH (P = nonsignificant), was associated with lower tumor grades (grades 1-3). These findings suggest that 3p14.2 genomic deletions may be among the earliest events in cRCC pathogenesis, preceding genomic deletions at the VHL locus. FHIT, or an as yet undiscovered TSG mapping to the D3S4103-D3S4260 interval, could be the molecular target of the 3p14.2 deletions. (+info)Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer. (5/1292)
To study the involvement of DNA mismatch-repair genes in sporadic breast cancer, matched normal and tumoral DNA samples of 22 patients were analysed for genetic instability and loss of heterozygosity (LOH) with 42 microsatellites at or linked to hMLH1 (3p21), hMSH2 (2p16), hMSH3 (5q11-q13), hMSH6 (2p16), hPMS1 (2q32) and hPMS2 (7p22) loci. Chromosomal regions 3p21 and 5q11-q13 were found hemizygously deleted in 46% and 23% of patients respectively. Half of the patients deleted at hMLH1 were also deleted at hMSH3. The shortest regions of overlapping (SRO) deletions were delimited by markers D3S1298 and D3S1266 at 3p21 and by D5S647 and D5S418 at 5q11-q13. Currently, the genes hMLH1 (3p21) and hMSH3 (5q11-q13) are the only known candidates located within these regions. The consequence of these allelic losses is still unclear because none of the breast cancers examined displayed microsatellite instability, a hallmark of mismatch-repair defect during replication error correction. We suggest that hMLH1 and hMSH3 could be involved in breast tumorigenesis through cellular functions other than replication error correction. (+info)Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q. (6/1292)
We report on a 22 year old man with hyperpigmentation distributed along the lines of Blaschko in whom cytogenetic analysis showed mosaicism for an unusual supernumerary marker chromosome. The patient was of normal intelligence and was not dysmorphic. The marker was present in 30% of his lymphocytes and in 6% of his skin fibroblasts from a dark area, while fibroblasts from a light area showed a normal karyotype, 46,XY. We have identified the origin of the marker using fluorescence in situ hybridisation (FISH) with whole chromosome painting probes and YAC specific clones. The marker was found to consist of duplicated chromosome material from the distal part of chromosome 3q and was interpreted as inv dup(3)(qter-->q27.1::q27.1-->qter). Hence, this marker did not include any known centromeric region and no alpha satellite DNA could be detected at the site of the primary constriction. The patient was therefore tetrasomic for 3q27-q29 in the cells containing the marker chromosome. We postulate that, in our case, pigmentary anomalies may result directly from the gain of specific pigmentation genes localised on chromosome 3q. (+info)Identification of the activating and conjugating enzymes of the NEDD8 conjugation pathway. (7/1292)
NEDD8 is a ubiquitin-like molecule that can be covalently conjugated to a limited number of cellular proteins, such as Cdc53/cullin. We have previously reported that the C terminus of NEDD8 is efficiently processed to expose Gly-76, which is required for conjugation to target proteins. A combination of data base searches and polymerase chain reaction cloning was used to identify a cDNA encoding human UBA3, which is 38% identical to the yeast homologue, 22% identical to human UBA2, and 19% identical to the C-terminal region of human UBE1. The human UBA3 gene is located on chromosome 3p13 and gave rise to a 2.2-kilobase pair transcript that was detected in all tissues. Human UBA3 could be precipitated with glutathione S-transferase (GST)-NEDD8, but not with GST-ubiquitin or GST-sentrin-1. Moreover, human UBA3 could form a beta-mercaptoethanol-sensitive conjugate with NEDD8 in the presence of APP-BP1, a protein with sequence homology to the N-terminal half of ubiquitin-activating enzyme. We have also cloned human UBC12 and demonstrated that it could form a thiol ester linkage with NEDD8 in the presence of the activating enzyme complex. Identification of the activating and conjugating enzymes of the NEDD8 conjugation pathway should allow for a more detailed study of the role of NEDD8 modification in health and disease. (+info)Correlation of abnormal RB, p16ink4a, and p53 expression with 3p loss of heterozygosity, other genetic abnormalities, and clinical features in 103 primary non-small cell lung cancers. (8/1292)
This study was performed to determine the frequency of inactivation and clinical correlates in non-small cell lung cancer (NSCLC) of three known tumor suppressor genes [TSGs; RB, MTS1/CDKN2 (p16), and p53] and various regions of 3p loss of heterozygosity (LOH) as other major potential TSG sites. Paraffin sections from 103 resected NSCLCs were analyzed for expression of pRB, p16, and p53 by immunohistochemistry, whereas DNA from tumor and normal tissue were tested for LOH at 3p25-26, 3p21, and 3p14. Previously published LOH data for 5q, 11p, 17q, and 18q were also available. Loss of pRB or p16 expression and overexpression of p53 were considered abnormal. The immunohistochemical and LOH data were correlated with a variety of clinical parameters including stage, age, sex, smoking history, and survival. With respect to pRB, p16, and p53, the tumors could be grouped into four categories: normal for all three proteins (21%); abnormal for pRB or p16 and normal for p53 (30%); normal for pRB and p16 and abnormal for p53 (20%); and abnormal in both pathways (28%). Aberrant expression of pRB, p16, p53, and 3p LOH, either individually or in combination, was not associated with survival differences or any other clinical parameters, with the exception that pRB/pl6 abnormalities were more common in older patients (P = 0.0005). pRB and p16 expression showed a strong inverse correlation (P = 0.002), whereas there was no correlation between expression of pRB, p16, and p53. Abnormal expression of any of the three genes inversely correlated with K-ras codon 12 mutations (P = 0.004), but not with 3p LOH or LOH at other TSG loci. We conclude that resectable NSCLCs show distinct patterns of TSG inactivation, but that no clear clinical correlates exist either alone or in combination for pRB, p16, p53, and 3p abnormalities. (+info)
Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 similar to q22...
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Anti-Human FHIT Antibody | Human FHIT Antibody | FHIT Antibody | Fragile Histidine Triad Protein Antibody
Anti-Human FHIT Antibody | Human FHIT Antibody | FHIT Antibody | Fragile Histidine Triad Protein Antibody
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Chromosome 16
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 16: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 16: ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 16". Genet Test. 3 (2): 243-54. ... Synesthesia Thalassemia Trisomy 16 Morquio syndrome Red hair G-banding ideograms of human chromosome 16 "Human Genome Assembly ...
Chromosome 3
Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 3: entries, gene ... type 2 Charcot-Marie-Tooth disease Chromosome 3q duplication syndrome Coproporphyria A location on human chromosome 3 is ... The following is a partial list of genes on human chromosome 3. For complete list, see the link in the infobox on the right. ... Partial list of the genes located on p-arm (short arm) of human chromosome 3: ALAS1: aminolevulinate, delta-, synthase 1 APEH: ...
Chromosome 17
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 17: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 17: ... Chromosome 17 contains the Homeobox B gene cluster. The following are some of the gene count estimates of human chromosome 17. ... "Chromosome 17". Genetics Home Reference. Archived from the original on 2007-06-30. Retrieved 2017-05-06. "Chromosome 17". Human ...
Chromosome 15
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 15: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 15: ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 15". Genet Test. 3 (3): 309-322 ... Wikimedia Commons has media related to Human chromosome 15. National Institutes of Health. "Chromosome 15". Genetics Home ...
Chromosome 14
... is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... "Chromosome 14: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19. "Human chromosome 14: ... "Chromosome 14". Genetics Home Reference. Archived from the original on 2012-02-04. Retrieved 2017-05-06. "Chromosome 14". Human ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 14". Genet Test. 3 (4): 379-91. ...
ANKRD26
Genes on human chromosome 10, All stub articles, Human chromosome 10 gene stubs). ... ANKRD26 is found on chromosome 10, at 10q21. It has 6816 base pairs in the reference sequence mRNA transcript. LOC100289548 ( ... On the positive strand of human chromosome ten, located next to the 5' end of ANKRD26 is MASTL, microtubule associated serine/ ... 2004). "The DNA sequence and comparative analysis of human chromosome 10". Nature. 429 (6990): 375-81. Bibcode:2004Natur.429.. ...
Quercus robur
It comprises 12 chromosomes pairs, about 26,000 genes and 750 million bp. This is roughly a quarter of the size of the human ... Jays were overwhelmingly the primary propagators of oaks before humans began planting them commercially (and still remain the ... The acorns are 2-2.5 cm (3⁄4-1 in) long, pedunculate (having a peduncle or acorn-stalk, 3-7 cm (1-3 in) long) with one to four ... 3. New York and Oxford - via eFloras.org, Missouri Botanical Garden, St. Louis, MO & Harvard University Herbaria, Cambridge, MA ...
LSMEM1
Aliases for LSMEM1 include C7orf53, chromosome 7 open reading frame 53, and FLJ39575. The human mRNA is 1686 base pairs long ... In humans, LSMEM1 is located on chromosome 7q31.1. LSMEM1 neighbors the gene IFRD1 in humans. ... It also shows expression in both the fetal and adult stages of life in humans. LSMEM1 is predicted to have a 615 base pair ... In humans, LSMEM1 is very highly expressed in skeletal muscle. In humans, LSMEM1 also shows high expression in nerve tissue, ...
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 ... the gene 25,500 base pairs long. It is located on the plus strand and contains 17 exons. There is only one paralog for CCDC37 ... found in humans, CCDC38. CCDC38 is located on chromosome 12. The ortholog space of CCDC37 is fairly broad including mammals, ... Coiled-coil domain-containing 37, also known as FLJ40083, is a protein that in humans is encoded by the CCDC37 gene (3q21.3). ...
PAX7
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". ...
PTCHD4
Human PTCHD4 is located on the negative strand of chromosome 6, at 6p12.3. From there, it covers 190,350 base pairs, which ... "The Human Protein Atlas". The Human Protein Atlas. Retrieved May 15, 2015. "CBS Prediction Servers". TMHMM. Retrieved May 15, ... "The Human Gene Compendium". Gene Cards. Retrieved May 15, 2015. "National Center for Biotechnology". NCBI. Retrieved May 15, ... Sequenced distant orthologs of human PTCHD4 have been found as far back in evolution as mold, which shows a conservation of 16 ...
PTPN22
Gene PTPN22 is located on the p arm of the human chromosome 1. It is nearly 58 000 base pairs long and contains 21 exons. In ... Genes on human chromosome 1, Proteins, Molecular biology, Immune system, T cells). ... "Chromosome 1: 113,813,811-113,871,759 - Region in detail - Homo sapiens - Ensembl genome browser 89". may2017.archive.ensembl. ... On its N terminus it possesses catalytic domain, which shows the highest level of conservation between human and mouse proteins ...
Ccdc109b
The unspliced version of this gene is the longest and most common variant found in human cells and is 1298 base pairs in length ... Genes on human chromosome 4, Commons category link from Wikidata). ... CCDC109B is located at 4q25 and is 128,520 base pairs in length. CCDC109B contains eight exons and is located on the positive ... Coiled-coil domain containing 109B (CCDC109B) is a potential calcium uniporter protein found in the membrane of human cells and ...
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 ...
Aldolase B
In humans, aldolase B is encoded by the ALDOB gene located on chromosome 9. The gene is 14,500 base pairs long and contains 9 ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 9, CS1: long volume value, ... 1988). "Human aldolase B gene: characterization of the genomic aldolase B gene and analysis of sequences required for multiple ... Ali M, Sebastio G, Cox TM (1994). "Identification of a novel mutation (Leu 256→Pro) in the human aldolase B gene associated ...
ANKRD24
The gene is located on chromosome 19 at p13.3 on the forward strand. The gene is 4041 base pairs in length and contains 29 ... ANKRD24 has no human paralogs. Orthologous proteins are found in other organisms. The following table represents some of the ... Ankyrin repeat domain-containing protein 24 is a protein in humans that is coded for by the ANKRD24 gene. The gene is also ... The protein's function in humans is currently unknown. ANKRD24 is in the protein family that contains ankyrin-repeat domains. ...
RAB7A
"NotI linking/jumping clones of human chromosome 3: mapping of the TFRC, RAB7 and HAUSP genes to regions rearranged in leukemia ... specifically on the long q arm from base pair 128,726,135 to 128,814,797. The location was found using mapping which was first ... Ras-related protein Rab-7a is a protein that in humans is encoded by the RAB7A gene. Ras-related protein Rab-7a is involved in ... Analyses in human cells, clinical specimens, and mouse models demonstrated that RAB7 is an early-induced melanoma driver whose ...
C20orf202
... (chromosome 20 open reading frame 202) is a protein that in humans is encoded by the C20orf202 gene. In humans, this ... C20orf202 is located on the plus strand of chromosome 20 at 20p13. The gene is 4,826 base pairs long. It spans from chr20: ... "C20orf202 chromosome 20 open reading frame 202 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 1 May ... "C20orf202 chromosome 20 open reading frame 202 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. "Homo sapiens ...
Human genome
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell ... The genome is organized into 22 paired chromosomes, termed autosomes, plus the 23rd pair of sex chromosomes (XX) in the female ... when the X chromosome is included, and 2 963 015 935 base pairs when the Y chromosome is substituted for the X chromosome. ... The human Y chromosome, consisting of 62,460,029 base pairs from a different cell line and found in all males, was sequenced ...
Transmembrane protein 251
The TMEM251 gene is located on human chromosome 14, at 14q32.12, on the plus strand. The gene size is 1,277 base pairs. It ... "Q8N6I4 - TM251_HUMAN". UniProt. UnitProt. Retrieved 9 May 2015. "Human BLAT Search". UCSC Genome Browser. UCSC. Retrieved 9 May ... EST Profile data shows the tissue expression of TMEM251 in humans. TMEM251 has no paralogs in humans. It does have orthologs ... In the human body, microarray-assessed tissue expression patterns show TMEM251 to be highly expressed in ascites, bladder, bone ...
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 ...
Akkermansia muciniphila
Its circular chromosome contains 2,664,102 base pairs and its proteome contains 5644 unique proteins. It colonizes the ... Akkermansia muciniphila is a human intestinal symbiont, isolated from human feces. It is a mucin-degrading bacterium belonging ... Then in 2019, the same team of Belgian researchers from the UCLouvain tested for the first time in humans the impact of an oral ... A. muciniphila is found in about 90% of healthy humans, makes up about 1% to 3% of the fecal microbiota and colonizes the gut ...
RTP3 (gene)
It spans a total of 2,974 base pairs, between bases 46497976 and 46500950 on chromosome 3.[citation needed] There is only one ... All articles with unsourced statements, Articles with unsourced statements from December 2020, Genes on human chromosome 3). ... RTP3 has several paralogs in humans, including other members of the RTP family. While there is experimental evidence RTP3 may ... human)] - Protein - NCBI". "ExPASy - Compute pI/Mw tool". Madeira F, Park YM, Lee J, Buso N, Gur T, Madhusoodanan N, Basutkar P ...
KIAA2013
CS1 maint: url-status, Genes on human chromosome 1). ... and is 6,838 base pairs long. There are two alternate splice ... The singular human KIAA2013 promoter is a 1194 bp long sequence that precedes the gene. There are hundreds of possible ... "GXP_42188(KIAA2013/human)".{{cite web}}: CS1 maint: url-status (link) "GDS3113 / 706030". www.ncbi.nlm.nih.gov. Retrieved 2021- ... The KIAA2013 gene is located on the short arm of Chromosome 1, in location 36.22 (1p36.22). It can be found on the minus strand ...
SLC66A3
The SLC66A3 is a gene consisting of 26,831 base pairs spanning from 11,155,467-11,178,856 on chromosome 2. SLC66A3 mapped to ... "AceView: Gene:PQLC3, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". www.ncbi.nlm.nih.gov ... The promoter of SLC66A3 is 1,169 base pairs long and is located 1000 base pairs upstream of the 5' UTR. Many different ... human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2021-12-19. "SLC66A3 Gene". www.genecards.org. Retrieved 2021-10-06. " ...
C12orf66
"C12orf66 chromosome 12 open reading frame 66 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-02-25 ... C12orf66 variant 1 is 36 Mbp in length spanning the base pairs 64,186,312 - 64,222,296 on chromosome 12. There are 3 total ... The human C12orf66 protein is 446 amino acids in length with a molecular weight of 50kdal . C12orf66 contains the domain of ... C12orf66 is a protein that in humans is encoded by the C12orf66 gene. The C12orf66 protein is one of four proteins in the ...
TBR1
The human TBR1 gene is located on the q arm of the positive strand of chromosome 2. It is 8,954 base pairs in length. TBR1 is ... Articles with short description, Short description is different from Wikidata, Good articles, Genes on human chromosome 2, ... "Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins". ... Orthologs of the human TBR1 gene have been identified in chimpanzee, dog, cow, rat, mouse, and zebrafish. In mice, TBR1 has ...
C18orf63
... on the long arm of chromosome 18. It is composed of 5065 base pairs spanning from 74,315,875 to 74,359,187 bp on chromosome 18 ... Chromosome 18 open reading frame 63 is a protein which in humans is encoded by the C18orf63 gene. This protein is not yet well ... "C18orf63 chromosome 18 open reading frame 63 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-19 ... CS1 errors: generic name, Articles with short description, Short description matches Wikidata, Genes on human chromosome 18, ...
Transmembrane protein 44
v t e (Genes on human chromosome 3, Transmembrane proteins, All stub articles, Human chromosome 3 gene stubs). ... mRNA sequence of the TMEM44 gene is 1483 base pairs long, with 13 exons. TMEM44 gene is located at the end of the long arm of ... Database, GeneCards Human Gene. "TMEM44 Gene - GeneCards , TMM44 Protein , TMM44 Antibody". www.genecards.org. Retrieved 2018- ... "TMEM44 transmembrane protein 44 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-02-15. "ExPASy - ...
METTL26
... is located on the short arm of chromosome 16 in humans, in the thirteenth open reading frame. There are five transcript ... The primary transcript of this gene is 1,919 base pairs long. Using the Dotlet program, a dot plot was constructed comparing ... The human expression profile from NCBI UniGene suggests that this gene has widespread expression in many different tissues in ... "Homo sapiens chromosome 16, GRCh37.p5 Primary Assembly - Nucleotide - NCBI". Ncbi.nlm.nih.gov. 2012-04-04. Retrieved 2012-05-18 ...
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, ...
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 ... 8,000 base pairs. The gene has numerous single nucleotide variants as well as other variations, some of which have been ... 2004). "The DNA sequence and comparative analysis of human chromosome 5". Nature. 431 (7006): 268-74. doi:10.1038/nature02919. ... Articles with short description, Short description matches Wikidata, Genes on human chromosome 5). ...
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
In humans, histone H2B is coded for by twenty-three different genes, none of which contain introns. All of these genes are ... It plays an important role in the biology of the nucleus where it is involved in the packaging and maintaining of chromosomes, ... DNA is then wrapped around the entire nucleosome in groups of approximately 160 base pairs of DNA. The wrapping continues until ... There are sixteen variants of histone H2B found in humans, thirteen of which are expressed in regular body cells and three of ...
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 ... "Inbreeding effects on fertility in humans: evidence for reproductive compensation". American Journal of Human Genetics. 64 (1 ... 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 ...
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. ...
Juno (protein)
"Infection and Immunity Immunophenotyping (3i) Consortium". (Genes on human chromosome 11, Animal proteins, Fertility, Mammal ... Mayer K (16 April 2014). "Sperm/Egg Fusion Depends on Pairing of His/Her Proteins". Genetic Engineering & Biotechnology News. ... Juno also known as folate receptor 4, folate receptor delta or IZUMO1R is a protein that in humans is encoded by the FOLR4 gene ... including humans. Being previously elusive, Juno was discovered nine years after its male counterpart, Izumo1. The crystal ...
Coffin-Lowry syndrome
Because RPS6KA3 is located on the X chromosome, males (who possess only one copy of the X chromosome) display more severe ... "Coffin-Lowry syndrome". European Journal of Human Genetics 18, 627-633 (2010). doi:10.1038/ejhg.2009.189 Rogers RC, Abidi FE. ... A condition is considered X-linked if the gene that causes the disorder is located on the X chromosome (one of the two sex ... This gene is located on the short arm of the X chromosome (Xp22.2). The RPS6KA3 gene makes a protein that is involved with ...
The Myth of the One Percent
Humans share a common ancestor with chimpanzees, and the rapid evolution of chimpanzees and humans, along with gorillas and ... The changes include around 35 million base-pair changes, 689 genes gained and 86 lost, the increase in brain mass, as well as ... There are also differences in the genetic networks and chromosome structure that make it difficult to quantify the relative ... Chimpanzees and humans were found to be a monophyletic clade, leading to the question of how closely related the two are. The ...
Collagen, type IV, alpha 2
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 ...
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, ... 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 ...
Sex-chromosome dosage compensation
For example, in humans, females (XX) silence the transcription of one X chromosome of each pair, and transcribe all information ... Specifically, platypus X1 shares homology with the chicken Z chromosome, and both share homology with the human chromosome 9. ... of the Y chromosome during meiosis. Additionally, 10-25% of human X chromosome genes, and 3-7% of mouse X chromosome genes ... smaller W chromosome. Instead of silencing the entire chromosome as humans do, male chickens (the model ZZ organism) seem to ...
Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays
Human cancers arise by a combination of discrete mutations and chromosomal alterations. Loss of heterozygosity (LOH) of ... Chromosomes, Human, Pair 20 * Chromosomes, Human, Pair 3 * Genotype * Heterozygote * Humans * Loss of Heterozygosity* ... Human cancers arise by a combination of discrete mutations and chromosomal alterations. Loss of heterozygosity (LOH) of ... We characterize the results of LOH analyses on human small-cell lung cancer (SCLC) and control DNA samples by hybridization. We ...
Chromosome 17: MedlinePlus Genetics
... 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 ...
Aiden Eliot Shearer, M.D. | Harvard Catalyst Profiles | Harvard Catalyst
Chromosome 15 (human)
... human) Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome ... Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome ... Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 15". Genet Test 3 (3): 309-22. ... It uses material from the Wikipedia article "Chromosome_15_(human)". A list of authors is available in Wikipedia. ...
Biology (Duluth) - Research output
- [email protected]
Homoeologous chromosome pairing across the eukaryote phylogeny. Grusz, A. L., Sigel, E. M. & Witherup, C., Dec 2017, In: ... Emily, H., Hrabik, T. R., Li, Y., Lawson, Z. J., Carpenter, S. R. & Zanden, M. J. V., Jul 1 2017, In: Aquatic Sciences. 79, 3, ... Gross, B. L., Henk, A. D., Bonnart, R. & Volk, G. M., Mar 1 2017, In: Plant Cell Reports. 36, 3, p. 459-470 12 p.. Research ... Giovannelli, D., Black, B. A., Cox, A. D. & Sheik, C. S., Nov 3 2017, In: Frontiers in Earth Science. 5, 89.. Research output: ...
Fact Sheet Glossary - MPS Society
Human cells are expected to contain 46 chromosomes identified as 23 pairs; 22 pairs are autosomes and one pair are the sex ... Homologous Chromosomes: A pair of chromosomes, one from each parent, having the same gene loci in the same order. 5 ... Carrier: An individual who has a recessive, disease-causing version of a gene at a particular site on one chromosome of a pair ... Homozygote: An individual possessing a pair of identical pair of genes, either both normal, or both variant, at identical sites ...
What Are the 3 Types of Neurofibromatosis? Symptoms, Treatment
The 3 types of neurofibromatosis include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis ( ... Humans have 23 pairs of chromosomes that store genetic information: 22 pairs are called autosomal chromosomes, and one pair is ... Autosomal means that the defective gene is present on autosomal chromosomes, and dominant means that the disease will manifest ... Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome ...
The human loci DNF15S2 and D3S94 have a high degree of sequence similarity to acyl-peptide hydrolase and are located at 3p21.3<...
Chromosomes, Human, Pair 3 Medicine & Life Sciences 31% * Small Cell Lung Carcinoma Medicine & Life Sciences 26% ... The human loci DNF15S2 and D3S94 have a high degree of sequence similarity to acyl-peptide hydrolase and are located at 3p21.3. ... The human loci DNF15S2 and D3S94 have a high degree of sequence similarity to acyl-peptide hydrolase and are located at 3p21.3 ... The human loci DNF15S2 and D3S94 have a high degree of sequence similarity to acyl-peptide hydrolase and are located at 3p21.3 ...
About Genetics and Hearing Loss | A Parent's Guide to Genetics and Hearing Loss
Usually, human cells have 46 chromosomes that occur in 23 pairs. The first 22 pairs of chromosomes, called number 1 to 22, are ... In this figure, three of the 23 pairs of chromosomes are shown: pair #1 (green), pair #2 (yellow), and the sex chromosomes ( ... One chromosome of each pair is from the persons mother and the other chromosome of each pair is from the father. ... A child randomly gets one of each pair of chromosomes from the childs mother (striped) and one of each pair from the father ( ...
Genetic Disease: 4 Types and List of 39
Damage to the chromosomes; and 4. Mitochondrial genetic inheritance disorders. Examples of genetic diseases or disorders ... The human genome is made up of the 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes). These 46 ... The human genome is made up of the 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes). These 46 ... Genetic Diseases - Chromosome Abnormalities Which genetic disease with chromosome abnormalities do you or someone you know have ...
DNA Editing | Hackaday
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 ...
Usefulness of Published PCR Primers in Detecting Human Rhinovirus Infection - Volume 17, Number 2-February 2011 - Emerging...
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 ...
Chromosome
Most human cells have two pairs of 23 chromosomes, one pair from your mother and the other from your father, for a total of 46 ... Most human cells have two pairs of 23 chromosomes, one pair from your mother and the other from your father, for a total of 46 ... DNA is so tightly wound in each chromosome that the entire human genetic code of 3 billion base pairs fits in an area of just 6 ... All about Chromosome. FACTS: Chromosomes are threadlike structures inside of cells that store genetic information. They are ...
Search Results
Painting of defined chromosomal regions by in situ suppression hybridization of libraries from laser-microdissected chromosomes...
Chromosomes, Human, Pair 7 Medicine & Life Sciences 41% * Chromosomes, Human, Pair 1 Medicine & Life Sciences 39% ... After microcloning, human inserts with an average size of about 3 kb were pooled from 400 recombinant bacteriophage DNA clones ... After microcloning, human inserts with an average size of about 3 kb were pooled from 400 recombinant bacteriophage DNA clones ... After microcloning, human inserts with an average size of about 3 kb were pooled from 400 recombinant bacteriophage DNA clones ...
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. ...
Rubella Virus | Concise Medical Knowledge
The complete genetic complement contained in the DNA of a set of chromosomes in a human. The length of the human genome is ... Excinucleases recognize the base pair mismatch and cause a segment of polynucleotide chain to be excised from the daughter ... The complete genetic complement contained in the DNA of a set of chromosomes in a human. The length of the human genome is ... The complete genetic complement contained in the DNA of a set of chromosomes in a human. The length of the human genome is ...
Left cardiac sympathetic denervation in long QT syndrome patients<...
Chromosomes, Human, Pair 11 Medicine & Life Sciences 24% * Chromosomes, Human, Pair 7 Medicine & Life Sciences 24% ... The latter appears substantiated by recent advances in molecular genetics showing a linkage on chromosomes 11, 3, 7, and 4, ... The latter appears substantiated by recent advances in molecular genetics showing a linkage on chromosomes 11, 3, 7, and 4, ... The latter appears substantiated by recent advances in molecular genetics showing a linkage on chromosomes 11, 3, 7, and 4, ...
Scientists Laid Out a Technological Roadmap for What They'll Need to Write Synthetic Genomes From Scratch | Discover Magazine
In the 150 years that followed, matching pairs of chromosomes were labeled, As, Ts Cs and Gs were coupled off and, ultimately, ... By the end of the decade-long global effort known as the Human Genome Project, the genetic blueprint of life was finally ... They say the latter, which involves stitching together all the bits of DNA to construct a functioning chromosome, may be the ... "But the one area that needs the most basic development and new ways of doing things is probably [chromosome construction]." ...
Work More Efficiently In Developmental Biology With Stereo Microscopy: Fruit Flies (Drosophila Melanogaster) | Science Lab |...
Chromosomes. National Human Genome Research Institute (NHGRI), National Institute of Health (NIH), Bethesda, Maryland, USA. ... The fruit fly has only 4 pairs of chromosomes [3], many of which are large, making it easy to locate mutations [4] and ... The homology of cancer and disease related genes found in both the genomes of D. melanogaster and humans is significant [7, 8 ... Reiter LT, Potocki L, Chien S, Gribskov M, and Bier E: A Systematic Analysis of Human Disease-Associated Gene Sequences In ...
The DNA sequence, annotation and analysis of human chromosome 3<...
Chromosomes, Human, Pair 3 Medicine & Life Sciences 100% * Human Chromosomes Medicine & Life Sciences 86% ... one of the largest human chromosomes. Chromosome 3 comprises just four contigs, one of which currently represents the longest ... one of the largest human chromosomes. Chromosome 3 comprises just four contigs, one of which currently represents the longest ... one of the largest human chromosomes. Chromosome 3 comprises just four contigs, one of which currently represents the longest ...
GeDi: applying suffix arrays to increase the repertoire of detectable SNVs in tumour genomes | BMC Bioinformatics | Full Text
... we analysed two real paired tumour-blood targeted deep sequencing datasets targeting loci on chromosome 17 and chromosome 22 ... 2d). To achieve this for a given consensus pair, the control consensus sequence is mapped to the human reference genome using ... Once redundant variant blocks are removed, for each remaining variant block GeDi now constructs a (T,C)-pair Fig. (2c); a pair ... False positives are removed by consensus pair filtering. d Finally, SNVs are called using control consensus pairs as proxies to ...
Alexander Lorenz - Research output
- The University of Aberdeen Research Portal
Chromosome pairing does not contribute to nuclear architecture in vegetative yeast cells. Lorenz, A., Fuchs, J., Loidl, J. & ... What do we know about the biology of the emerging fungal pathogen of humans Candida auris? Bravo Ruiz, G. & Lorenz, A., Jan ... Roles of Hop1 and Mek1 in meiotic chromosome pairing and recombination partner choice in Schizosaccharomyces pombe. Latypov, V. ... Brown, S. D., Audoynaud, C. & Lorenz, A., Jun 2020, In: Chromosome Research. 28, p. 195-207 13 p.. Research output: ...
DeepVariant: Highly Accurate Genomes With Deep Neural Networks - Google AI Blog
A: a true SNP on one chromosome pair, B: a deletion on one chromosome, C: a deletion on both chromosomes, D: a false variant ... From Sanger sequencing, which made it possible to sequence the human genome, to the microarray technologies that enabled the ... A key question is how to use the reads to determine whether there is a variant on both chromosomes, on just one chromosome, or ... organized into 23 pairs of chromosomes. Instead, these instruments generate ~1 billion short sequences, known as reads. Each ...
RCSB PDB - 4E59: Crystal structure of GCCGCCGC duplex
... one of two expected C-C pairs is eliminated from the duplex. Each of the three observed C-C pairs interacts differently, ... CCG repeats are highly over-represented in exons of the human genome. Usually they are located in the 5 UTR but are also ... myotonic dystrophy type 1 and chromosome X-linked mental retardation (FRAXE). In this study, we present two crystal structures ... CCG repeats are highly over-represented in exons of the human genome. Usually they are located in the 5 UTR but are also ...
anti-C1orf43 Antikörper (AA 11-100) (Alexa Fluor 350) | Produkt Nr. ABIN1693353
The gene encoding C1orf43 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and ... anti-Chromosome 1 Open Reading Frame 43 (C1orf43) (AA 11-100) antibody (Cy5) C1orf43 Reaktivität: Human IF (cc), IF (p) Wirt: ... anti-Chromosome 1 Open Reading Frame 43 (C1orf43) (AA 179-228) antibody C1orf43 Reaktivität: Human, Affe WB Wirt: Kaninchen ... anti-Chromosome 1 Open Reading Frame 43 (C1orf43) (Middle Region) antibody C1orf43 Reaktivität: Human WB Wirt: Kaninchen ...
heredity and evolution online test
The number of pair (s) of sex chromosomes in the zygote of humans is. Questions are framed as per the trend of CBSE boards. ... How many pairs of chromosomes are present in humans? Chapter 9 - Heredity and Evolution - Test. Here is a compilation of Free ... The number of sex chromosomes in the zygote of humans is one pair. Start Test. 110 Avon Street, Charlottesville, VA 22902, USA ... Pair ( s ) of sex chromosomes in the new Exam Pattern, MCQ Questions for Class 10 Science Carries... Terms of Evolution end of ...
GeneSets of chromosomesAutosomal chromosomesDiploidRepeated sequencesRegion of chromosomeTotal of 46Fluorescent in situ hybriEnds of chromosomesGenes and chromosomesProteinsDeletionBillion base pairs2022NucleotideGenetics23rd pairAbnormalitiesCellsCopy of chromosomeOrganismsStructuresKaryotypeTumorExtra chromosomeAberrationsTelomeresStrandsComprising the human genomeCopiesMutationsComprisesChromosomal changeDisordersDuplicationRecombinantGenomicLocusFemalesMammalianMutationAllelesRecombinationTranslocationSperm fertilizesGenome sequenceBacteriaCytosineGenotypeBaseNucleusTightlyUnwindMalesGenomesConsistsSpeciesPerson'sDeterminesActive genesFetalSequenceSpecimens20,000CircularMitochondrial
Gene38
- This translocation, written as t(15;17), fuses part of the PML gene from chromosome 15 with part of the RARA gene from chromosome 17. (medlineplus.gov)
- Angelman syndrome results from a loss of gene activity in a specific part of chromosome 15, the 15q11-q13 region. (bionity.com)
- This chromosomal change deletes the region of chromosome 15 that includes the UBE3A gene. (bionity.com)
- Because the copy of the UBE3A gene inherited from a person's father (the paternal copy) is normally inactive in the brain, a deletion in the maternal chromosome 15 results in no active copies of the UBE3A gene in the brain. (bionity.com)
- People with paternal UPD for chromosome 15 have two copies of the UBE3A gene, but they are both inherited from the father and are therefore inactive in the brain. (bionity.com)
- About 10% of Angelman syndrome cases are caused by a mutation in the UBE3A gene, and another 3% result from a defect in the DNA region that controls the activation of the UBE3A gene and other genes on the maternal copy of chromosome 15. (bionity.com)
- A pattern of inheritance in which a nondominant (recessive) gene on a non-sex determining chromosome (autosome) results in a person either being a carrier of a trait or being affected. (mpssociety.org)
- An individual who has a recessive, disease-causing version of a gene at a particular site on one chromosome of a pair and a normal version of a gene at that locus on the other chromosome. (mpssociety.org)
- Autosomal means that the defective gene is present on autosomal chromosomes, and dominant means that the disease will manifest even if a single defective gene is present. (medicinenet.com)
- Genetic disorders can range from a defect in a single base mutation in the DNA of one gene to chromosomal abnormalities that involve deletion or addition of entire chromosomes or sets of chromosomes. (emedicinehealth.com)
- X-linked disorders refer to diseases for which the defective gene is present on the female (X) chromosome. (emedicinehealth.com)
- Genetic conditions can be described by the chromosome that contains the gene or DNA change. (cdc.gov)
- If the gene is part of one of the first 22 pairs of chromosomes, called autosomes, the genetic condition is called an "autosomal" condition. (cdc.gov)
- If the gene or DNA change is part of the X chromosome, the condition is called "X-linked" or "sex-linked. (cdc.gov)
- It also includes a chemokine receptor gene cluster as well as numerous loci involved in multiple human cancers such as the gene encoding FHIT, which contains the most common constitutive fragile site in the genome, FRA3B 3 . (elsevier.com)
- Practice thousands of multiple choice questions created by CBSE Class X Science experts & teachers, You can get instant results and also download certificate for passing CBSE Class 10 Science Heredity And Evolution Online Test Set A. a.Vegetative propagation b.Contraception c.Different combination of genetic material, gene mutation d.Fertility 3. (mercinewyork.com)
- DYT1 are caused by a 3-base pair in-frame deletion within the coding region of the TOR1A (torsinA) gene located on chromosome 9q34. (medscape.com)
- To limit the query to a specific position, type a chromosome name, e.g. chrX , or a chromosome coordinate range, such as chrX:100000-200000, or a gene name or other id in the text box. (ucsc.edu)
- The sex of human and other mammal babies is decided by a male-determining gene on the Y chromosome. (oniscience.com)
- But the human Y chromosome is degenerating and may disappear in a few million years, leading to our extinction unless we evolve a new sex gene. (oniscience.com)
- But the Y chromosome packs a punch because it contains an all-important gene that kick-starts male development in the embryo. (oniscience.com)
- It works by triggering a genetic pathway starting with a gene called SOX9 which is key for male determination in all vertebrates, although it does not lie on sex chromosomes. (oniscience.com)
- What they discovered was a tiny difference near the key sex gene SOX9, on chromosome 3 of the spiny rat. (oniscience.com)
- The new finding supports an alternative possibility - that humans can evolve a new sex determining gene. (oniscience.com)
- The two transgenic lambs entered the world armed with a human gene that gives them the ability to produce human serum albumin, a protein that is often used in surgeries and is essential to the treatment of burn victims. (wired.com)
- Human gene targeting has been successful to a degree in mice, but the birth of Cupid and Diana represents the first time the technique has succeeded in large animals, said Dr. Eric Overstrom, associate professor in the School of Veterinary Medicine at Tufts University. (wired.com)
- The PPL scientists introduced a gene in the chromosomes of livestock cells in culture. (wired.com)
- It was also previously impossible to choose an exact site on the chromosome to add a gene. (wired.com)
- Here, they�ve used gene targeting to replace a sheep gene with the corresponding human gene and they have much more control of the genetic modifications,' said Overstrom. (wired.com)
- PPL staff are particularly interested in the inactivation of a specific gene that could lead to pig organs being more readily accepted by the human immune system when human organs are unavailable for transplant. (wired.com)
- Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia. (cdc.gov)
- Human DNA gene sequencing has long been known for Chromosome 8, commonly known as the God Gene for its specific effect on Human Behaviors (see definition in next section). (ethealing.com)
- The PCR test template (gene sequence) for the "lab test" also is the same as that found on Chromosome 8, and it has also been found in Swabs used to collect nasal cell samples. (ethealing.com)
- FANCB is the one exception to FA being autosomal recessive , as this gene is on the X chromosome. (wikipedia.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)
- The first step in dna splicing is to locate a specific gene of interest on a chromosome. (web.app)
- Chromosome and gene. (nsmalondon.com)
- 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)
Sets of chromosomes2
- In reality every cell has two sets of chromosomes, so nearly every human cell has 1.5GB of data shoved inside. (hackaday.com)
- There are two sets of chromosomes. (medscape.com)
Autosomal chromosomes5
- Humans have 23 pairs of chromosomes that store genetic information: 22 pairs are called autosomal chromosomes, and one pair is called sex chromosomes. (medicinenet.com)
- The human genome is made up of the 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes). (emedicinehealth.com)
- The average human karyotype contains 22 pairs of autosomal chromosomes and one pair of sex chromosomes. (medscape.com)
- Humans have 46 chromosomes in each cell of their body and 23 pairs of autosomal chromosomes, and one pair of sex chromosomes, either X or Y, that are found in the nucleus of every cell (23 + 1 = 46). (howtodiscuss.com)
- We have 23 pairs of autosomal chromosomes, two sex chromosomes, and one pair of gender-determining chromosomes. (howtodiscuss.com)
Diploid4
- For researchers who wish to convert T/S ratio to base pairs (bp), the formula is (3,274 + 2,413 * (T/S)). The conversion from T/S ratio to bp is calculated based on comparison of telomeric restriction fragment (TRF) length from Southern blot analysis and T/S ratios using DNA samples from the human diploid fibroblast cell line IMR90 at different population doublings. (cdc.gov)
- Diploid organisms, such as humans, have chromosomes that come in homologous pairs (except for the sex chromosomes), with each parent contributing one chromosome per homologous pair. (maplesoft.com)
- As for diploid or polyploid organisms, we generally assemble one set of chromosomes. (cd-genomics.com)
- HG consists of 23 pairs of chromosomes existing in all diploid cells of human beings, where DNA is found and all genetic features of an individual is stored 6 . (bvsalud.org)
Repeated sequences1
- This chromosome segment is surrounded by short, repeated sequences of DNA that make it prone to rearrangement during cell division. (medlineplus.gov)
Region of chromosome3
- It is the same region of chromosome 17 that is abnormally copied (duplicated) in people with a 17q12 duplication (described below). (medlineplus.gov)
- It is the same region of chromosome 17 that is deleted in people with 17q12 deletion syndrome (described above). (medlineplus.gov)
- Loss of the distal portion and duplication of the proximal region of chromosome 4 were observed in the primary tumor cell cultures. (cdc.gov)
Total of 462
- Most human cells have two pairs of 23 chromosomes, one pair from your mother and the other from your father, for a total of 46 chromosomes. (giantmicrobes.com)
- Humans have 23 pairs of chromosomes, for a total of 46. (howtodiscuss.com)
Fluorescent in situ hybri2
- Cosmid cA476 (DNF15S2) has been mapped, by fluorescent in situ hybridization, to chromosome 3p21.3. (elsevier.com)
- Investigations of the minimal region of alteration of chromosome 4 by fluorescent in situ hybridization (FISH) and BAC array demonstrated the deletion of a 3 centimorgan region in the middle portion of the chromosome. (cdc.gov)
Ends of chromosomes1
- The ends of chromosomes are marked with DNA sequences called telomeres. (giantmicrobes.com)
Genes and chromosomes2
- The word was coined from genes and chromosomes. (earthfiles.com)
- Here the genetic factors can influence the development of a variety of neurologic disorders that are typically inherited from parents through genes and chromosomes. (nanavatimaxhospital.org)
Proteins8
- Chromosome 17 likely contains 1,100 to 1,200 genes that provide instructions for making proteins. (medlineplus.gov)
- The main reason for the smaller number of genes than expected is that human genes are capable of multi-tasking the production of proteins. (earthfiles.com)
- Scientists have long been puzzled by the fact that 97% of the DNA in human cells does not code for proteins and appears to consist of meaningless and repeating sequences. (earthfiles.com)
- They are hoping that their new technique could mean significant strides in the production of human proteins in livestock. (wired.com)
- This strongly suggests functional reasons for the amino acid sequences of human and ape proteins, and shows their similarities can be explained as being due to functional requirements. (evolutionnews.org)
- 12]. MicroRNAs (miRNAs, miRs) are brief, non-coding RNAs that work as detrimental regulators of appearance of protein-encoding genes by annealing to complementary sequences in 3 untranslated locations (3UTRs) of mRNAs and inhibiting additional steps of proteins synthesis [13]. (euromed2016.com)
- Polymerase allows the DNA strands to unwind from paired chain and the insertion new proteins encoded in the DNA which remains for future mRNA synthesis from the template strand. (ethealing.com)
- Previous reports suggest that electrical forces on cell structure proteins interfered with the chromosome separation during mitosis and induced apoptosis. (nature.com)
Deletion5
- 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)
- In most cases (about 70%), people with Angelman syndrome have a deletion in the maternal copy of chromosome 15. (bionity.com)
- Therefore, a person with a deletion in the paternal chromosome 15 will have no active genes in this region. (bionity.com)
- A: a true SNP on one chromosome pair, B: a deletion on one chromosome, C: a deletion on both chromosomes, D: a false variant caused by errors. (googleblog.com)
Billion base pairs6
- These 46 chromosomes together contain over 3 billion base pairs of DNA that contain about 20,500 protein-coding genes. (emedicinehealth.com)
- The human genome, with 3 billion base pairs can store up to 750MB of data. (hackaday.com)
- DNA is so tightly wound in each chromosome that the entire human genetic code of 3 billion base pairs fits in an area of just 6 microns, 10 times smaller than the diameter of hair! (giantmicrobes.com)
- In the 150 years that followed, matching pairs of chromosomes were labeled, As, Ts Cs and Gs were coupled off and, ultimately, 3 billion base pairs were sequenced in the correct order. (discovermagazine.com)
- On one hand is the Human Genome Project (HGP), a worldwide consortium of governments and their supported researchers who are mapping the 23 pairs of human chromosomes and are determining the complete nucleotide sequence, involving 3 billion base pairs of DNA. (psychiatrictimes.com)
- There are, after all, some 3 billion "base pairs," or letters, in the human genome -- the sum total of the genetic material in the chromosomes of an average person. (mit.edu)
20221
- 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)
Nucleotide3
- We have earlier reported the extent of DNA level diversity and its possible role due to somatic single nucleotide variations in normal human brain 1 . (nature.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)
- Beginning in 1990 and finishing in 2003, the Human Genome Project was an international research initiative that aimed to write the entire sequence of nucleotide base pairs that make up the human genome, including the mapping of all its genes that determine our physical and functional attributes. (soci.org)
Genetics7
- American journal of human genetics , 50 (4), 826-833. (elsevier.com)
- The latter appears substantiated by recent advances in molecular genetics showing a linkage on chromosomes 11, 3, 7, and 4, with identification of the genes for chromosomes 3 and 7. (elsevier.com)
- I could not find any Google listing for Prof. Sam Chang, so I decided to get a reality check on the truth from John McPherson, Ph.D. Dr. McPherson is currently Associate Professor in the Dept. of Human and Molecular Genetics at Baylor College of Medicine in Houston, Texas. (earthfiles.com)
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005 Feb 22 (1): 10-3. (cdc.gov)
- Present address: Medical Research Council (MRC) Human Genetics Unit, Edinburgh EH4 2XU, UK. (bioseek.eu)
- Despite of the extraordinary importance that all new knowledge on human genetics will have in dental clinics, little efforts have been made to prepare undergraduates in relation to this new information and technology. (bvsalud.org)
- Topics include: Darwinian evolution, genetics, a survey of the five kingdoms of life, principles of ecology, and human ecology. (lasell.edu)
23rd pair3
- The 23rd pair is called the sex chromosomes. (cdc.gov)
- The remaining 23rd pair, called the sex chromosome, determines whether you're a male or female. (howtodiscuss.com)
- The 23rd pair in gonadal cell called sex chromosome which is not always a perfect pair. (solutionsclass.com)
Abnormalities1
- Chromosome abnormalities usually result from a problem with cell division and arise because of duplications or absences of entire chromosomes or pieces of chromosomes. (emedicinehealth.com)
Cells22
- The human body has nearly 1013 cells. (cdc.gov)
- Each cell (except for red blood cells) contains a nucleus that houses these chromosomes. (cdc.gov)
- 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)
- Chromosome 15 spans about 106 million base pairs (the building material of DNA ) and represents between 3% and 3.5% of the total DNA in cells . (bionity.com)
- Usually, human cells have 46 chromosomes that occur in 23 pairs. (cdc.gov)
- Chromosomes are threadlike structures inside of cells that store genetic information. (giantmicrobes.com)
- 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)
- The authors identified four main areas of technology development needed to fully realize that potential: genome design, DNA synthesis, genome editing and creating synthetic chromosomes that can be introduced into cells. (discovermagazine.com)
- For example, yeast has 12, watermelon has 20, and salmon has 24 pairs of chromosomes in its cells. (howtodiscuss.com)
- There are 23 chromosome pairs in human cells. (howtodiscuss.com)
- There are 23 pairs of chromosomes in human cells, with one member of each team inherited from your mother and one from your father. (howtodiscuss.com)
- We identified 1305 non-redundant fusion events from 388 transcriptomes representing 59 human cortices and 329 single cells. (nature.com)
- January 18, 2007 Houston, Texas - The human body has about 100 trillion cells. (earthfiles.com)
- Inside each of those cells is the nucleus that contains the genome-46 human chromosomes which have the blueprint for building a human body. (earthfiles.com)
- Every one of the 100 trillion cells in the human body has a blueprint about how to build that body. (earthfiles.com)
- As powerful tools to detect molecular changes associated with primary and invasive mouse lung adenocarcinoma cells, we used Spectral Karyotyping, mapping with fluorescently labeled genomic clones and comparative genomic hybridization on a BAC array to analyze 15 primary adenocarcinoma and 9 pairs of high and low invasive tumor cell cultures. (cdc.gov)
- The duplication of chromosome 1 and 15 were associated with the ability of cells to invade a gel matrix. (cdc.gov)
- This developmental program requires a delicate level of regulation to ensure that the correct number of cells reaches their final destination [ 3 - 5 ]. (plos.org)
- Recently published research papers are now demonstrating how Human cells can rewrite RNA sequences into DNA Chromosomes. (ethealing.com)
- Cells that help the human body reproduce. (flashcardmachine.com)
- Number of chromosomes found in human body cells and sex cells. (flashcardmachine.com)
- Formed in 1994, ACT grew from a small agricultural cloning research facility located in Worcester, Massachusetts, into a multi-locational corporation involved in using both human embryonic stem cells (hESC) and human adult stem cells as well as animal cells for therapeutic innovations. (asu.edu)
Copy of chromosome1
- Down syndrome is caused by an extra copy of chromosome 21. (howtodiscuss.com)
Organisms2
- Other organisms have a wide variety of numbers of chromosomes. (howtodiscuss.com)
- There exist shared "nonfunctional" pseudogenes between humans and chimps and other organisms. (evolutionnews.org)
Structures1
- Telomeres are small structures that protect the ends of your chromosomes. (hilfenetzwerk-cic.de)
Karyotype4
- As Lo viewed the Harry Potter H through 3D glasses, he was suddenly reminded of the male human karyotype. (medscape.com)
- The karyotype is the number of chromosomes a human has. (howtodiscuss.com)
- The karyotype for humans is 46. (howtodiscuss.com)
- The human karyotype is 46. (howtodiscuss.com)
Tumor4
- Possible applications include the definition of marker chromosomes in clinical and tumor cytogenetics and studies of chromosomal evolution, as well as studies of nuclear chromosome topography in animal and plant species. (elsevier.com)
- Loss of entire copies of chromosomes 7, 8, and 14 were significant in the primary tumor cell cultures. (cdc.gov)
- 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)
- nanomonsv is a software for detecting somatic structural variations from paired (tumor and matched control) cancer genome sequence data. (pypi.org)
Extra chromosome2
- Testing is most often used to look for chromosomal disorders that are caused by the presence of an extra chromosome, like in trisomy 21 in the case of Down syndrome or extra or missing copies of the X and Y chromosomes in other disorders. (medscape.com)
- Down syndrome (DS) is the most common genetic disorder, resulting from an extra chromosome in pair 21. (bvsalud.org)
Aberrations1
- Relevant of mutagenicity and clastogenici- angiosarcomas of the liver, which carcinogens discussed in this chap- ty, including the induction of sister are rare tumours, were identified in ter do not include pharmaceutical chromatid exchange (SCE), chro- humans, rats, and mice exposed to drugs classified in Group 1, which mosomal aberrations (CA), and mi- vinyl chloride. (who.int)
Telomeres2
Strands4
- Both duplexes form A-helices but with strands slipped in the 5' (native structure) or the 3' direction (LNA-containing structure). (rcsb.org)
- Each chromosome is made up of two strands of DNA. (howtodiscuss.com)
- In humans, most of the DNA is in the form of tightly coiled strands called chromosomes, found inside the cell nucleus. (dnacenter.com)
- Another enzyme, DNA polymerase, adds the four molecules A, T, C, and G to each strand based on the strands sequences: A is added to a T on the strand, and C is paired with a G. (dnacenter.com)
Comprising the human genome1
- After the completion of a draft human genome sequence 1 , the International Human Genome Sequencing Consortium has proceeded to finish 2 and annotate each of the 24 chromosomes comprising the human genome. (elsevier.com)
Copies10
- Two copies of chromosome 17, one copy inherited from each parent, form one of the pairs. (medlineplus.gov)
- The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 17. (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)
- People normally have two copies of this chromosome. (bionity.com)
- The following conditions are caused by changes in the structure or number of copies of chromosome 15. (bionity.com)
- In 3% to 7% of cases, Angelman syndrome occurs when a person has two copies of the paternal chromosome 15 instead of one copy from each parent. (bionity.com)
- People normally have two copies of this chromosome in each cell, one copy from each parent. (bionity.com)
- the two copies of chromosome #1 swap DNA with each other and then duplicate, creating two new chromosomes from one original. (howtodiscuss.com)
- People with Down syndrome usually have three copies of this chromosome instead of two. (howtodiscuss.com)
- Everyone has two copies of the human genome: One inherited from their biological mother and one from the biological father. (cnn.com)
Mutations2
- Human cancers arise by a combination of discrete mutations and chromosomal alterations. (nih.gov)
- Because since the creation of atomic bombs in the 1940s, scientists have tried to understand what radiation does to human bodies and what mutations it causes in human DNA. (earthfiles.com)
Comprises3
- Chromosome 3 comprises just four contigs, one of which currently represents the longest unbroken stretch of finished DNA sequence known so far. (elsevier.com)
- 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)
- Suppose you are digesting a plasmid that comprises 3 kb of vector and 2 kb of insert. (web.app)
Chromosomal change1
- 17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied abnormally in each cell. (medlineplus.gov)
Disorders2
- Some genetic diseases, such as haemophilia, are carried on the X-chromosome (these X-linked disorders occur mainly in men). (who.int)
- As in previous lectures, I will illustrate some of the basic human genetic phenomena through case studies, in this case ranging from calico cats to the human genetic disorders of Angelman and Prader-Willi syndromes. (coursera.org)
Duplication4
- The chromosome is remarkable in having the lowest rate of segmental duplication in the genome. (elsevier.com)
- In addition, FISH demonstrated a 20 centimorgan duplication on chromosome 4. (cdc.gov)
- Mapping with FISH and CGH array further narrowed the region of duplication of chromosome 1 to five centimorgans. (cdc.gov)
- A small duplication (only 17,000 base pairs out of more than 3 billion) was present in all males and no females. (oniscience.com)
Recombinant2
- After microcloning, human inserts with an average size of about 3 kb were pooled from 400 recombinant bacteriophage DNA clones and used as a complex probe set in CISS-hybridization experiments. (elsevier.com)
- The commercial introduction of recombinant human growth hormone (rhGH) in 1985 dramatically changed the field of therapy for growth hormone (GH). (medscape.com)
Genomic3
- To detect SNVs in paired tumour-control NGS datasets, SNV calling pipelines must compare reads of the tumour dataset against reads of the control dataset that derive from the same genomic location. (biomedcentral.com)
- The importance of this problem, for biomedical applications in particular, has motivated efforts such as the Genome in a Bottle Consortium (GIAB), which produces high confidence human reference genomes that can be used for validation and benchmarking, as well as the precisionFDA community challenges, which are designed to foster innovation that will improve the quality and accuracy of HTS-based genomic tests. (googleblog.com)
- You can select multiple genomic regions by clicking the 'define regions' button and entering up to 1,000 regions in a 3- or 4-field BED file format. (ucsc.edu)
Locus3
- Smoking dysregulates the human airway basal cell transcriptome at COPD risk locus 19q13.2. (ouhsc.edu)
- Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19. (ouhsc.edu)
- This is the first example of a transcriptional activator that accumulates transiently and reversibly on a chromosome-specific heterochromatic locus. (rupress.org)
Females7
- The first 22 pairs of chromosomes, called number 1 to 22, are the same in males and females. (cdc.gov)
- In females, it is perfect with two X-chromosomes. (mercinewyork.com)
- The male chromosome is called an X, and the female is a Y. Females have two X chromosomes (XX), while males have one X and one Y chromosome (XY). (howtodiscuss.com)
- Males have one X chromosome, but females have two X chromosomes. (howtodiscuss.com)
- Females need two X chromosomes for normal functioning. (howtodiscuss.com)
- She gave a really interesting presentation with excellent graphics slides showing elements of DNA, an excellent explanation of how the Y-chromosome (for males) and mitochondrial DNA (for males and females) can be used in genealogy and anthropology research. (geneamusings.com)
- pairs of autosomes and 1 pair of sex chromosomes (XY in Institut de Recherche pour le Développement, Montpellier, males, XX in females) (8). (cdc.gov)
Mammalian1
- Human pheromones: integrating neuroendocrinology and ethology JV Kohl, M Atzmueller, B Fink… - Neuroendocrinology Letters, 2001 - The effect of sensory input on hormones is essential to any explanation of mammalian behavior, including aspects of physical attraction. (rna-mediated.com)
Mutation1
- The most frequent mutation inside the pathway may be the BRAF V600E, taking place in around 44C60% of PTC tumors [2,3]. (euromed2016.com)
Alleles3
- It states that in a pair of alleles only one pair is dominant over the other. (ziyyara.in)
- Each chromosome in a given homologous pair represents the same genes, but with different expressions (called alleles ) of those genes. (maplesoft.com)
- It is hard to tell which alleles belong to which set of chromosomes in heterozygous regions. (cd-genomics.com)
Recombination2
- Major sequence differences among the four specimens sequenced in this study were in the 5′ and 3′ ends of chromosome 6 and the gp60 region, largely the result of genetic recombination. (cdc.gov)
- The sequence similarity among specimens of the two dominant outbreak subtypes and genetic recombination in chromosome 6, especially around the putative virulence determinant gp60 region, suggest that genetic recombination plays a potential role in the emergence of hyper-transmissible C. hominis subtypes. (cdc.gov)
Translocation4
- 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)
- Fragments from the long arms of 130 translocation chromosomes were microdissected. (elsevier.com)
- This resulted in painting of the translocation chromosome along the region 7q35 to 1p31. (elsevier.com)
Sperm fertilizes1
- 1) the ovum contributes one chromosome of each pair to the fertilized cell (2) When a human sperm fertilizes a human ovum , a single cell is created with the potential to grow into a human person. (english-kannada.com)
Genome sequence2
- However, the output of HTS instruments is not the genome sequence for the individual being analyzed - for humans this is 3 billion paired bases (guanine, cytosine, adenine and thymine) organized into 23 pairs of chromosomes. (googleblog.com)
- Deploying the Whole Genome Sequence In Medicine and Public Health, One Base Pair At A Time. (cdc.gov)
Bacteria2
- Although the set of species present in the human oral biofilm is almost fully depicted, new efforts have to be conducted to establish microbial agonistic or antagonistic associations, to distinguish actively-growing bacteria from inactive or transient species, as well as to outline the role of individual species during biofilm formation on tooth surfaces. (biomedcentral.com)
- Bacteria human relationship with distillery and animals. (veganismblog.tk)
Cytosine2
- Chromosomes have the four "letters" of genetic code: A, C, G, T (adenine, thymine, cytosine and guanine) which pair off in nucleotides. (earthfiles.com)
- The two sides are composed of the four bases: adenine (A), thymine (T), guanine (G), and cytosine (C), and the rungs of the ladder represent hydrogen bonds that connect specific pairs of these molecules together: A-T and G-C. (dnacenter.com)
Genotype1
- 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)
Base7
- The chromosome pairs average about 1.1 million base pairs or nearly 6 feet long. (howtodiscuss.com)
- They can even range from as small as 600,000 base pairs (2 feet) to over 2 million base pairs in some individuals! (howtodiscuss.com)
- The genome consists of 30-million base pairs Describe the size and content of the genome. (kenyon.edu)
- Base pair estimates are only comparable for T/S ratio data produced with the same reference standard and the same lab procedures. (cdc.gov)
- While comparisons across studies of telomere length in base pairs are commonly done, it is not highly accurate. (cdc.gov)
- The publicly funded $3bn project was able to map 99% of the human genome with 99.99% accuracy, which included its 3.2bn Mega-base pairs, 20,000 genes and 23 chromosome pairs, and has led to advancements in bioinformatics, personalised medicine and a deeper understanding of human evolution. (soci.org)
- The Human Genome Project (HGP) was an international scientific effort to sequence the entire human genome, that is, to produce a map of the base pairs of DNA in the human chromosomes, most of which do not vary among individuals. (asu.edu)
Nucleus1
- The chromosomes may be seen, and the nucleus is rather massive. (risingacademy.org)
Tightly1
- Each chromosome is one long string of DNA that is tightly coiled in a compact bundle. (earthfiles.com)
Unwind1
- If you unwind each chromosome and place them end-to-end, you will have a long, double-stranded helix that is about 3 meters in length-all from one microscopic human cell. (dnacenter.com)
Males1
- Males only need one X chromosome to function. (howtodiscuss.com)
Genomes3
- The homology of cancer and disease related genes found in both the genomes of D. melanogaster and humans is significant [7, 8]. (leica-microsystems.com)
- There, he was the lead scientist in that university's efforts to map the human genome, as well as mouse and chicken genomes. (earthfiles.com)
- In what ways can human genomes differ? (coursera.org)
Consists1
- c) The male consists of XY pair of sex chromosome. (ziyyara.in)
Species7
- The panel included representatives of the 3 HRV species ( Figure ), human enteroviruses (HEVs), and extracts negative for picornaviruses. (cdc.gov)
- The mole voles of eastern Europe and the spiny rats of Japan each boast some species in which the Y chromosome, and SRY, have completely disappeared. (oniscience.com)
- Scientists have found a way to modify animals using human genes that could one day lead to transplants between species. (wired.com)
- Cryptosporidium hominis is a dominant species for human cryptosporidiosis. (cdc.gov)
- These effects should be even stronger in inbreeding species 3 and taxa with generally low Ne such as social insects 4 . (wurmlab.com)
- The study of microbial communities from environment- and human-derived samples through Next Generation Sequencing (NGS) methods has revealed a vast complexity in those ecological niches where hundreds or thousands of microbial species co-inhabit and functionally interact. (biomedcentral.com)
- The co-aggregation detected to occur between streptococci and Actinomyces species has been proposed to be a major promoter of human oral biofilm formation [ 8 ]. (biomedcentral.com)
Person's2
Determines1
- Of these 23 pairs, 22 are autosomal, and one team determines sex. (howtodiscuss.com)
Active genes2
- Prader-Willi syndrome is caused by the loss of active genes in a specific part of chromosome 15, the 15q11-q13 region. (bionity.com)
- In turn, this must mean the Y chromosome has lost 900-55 active genes over the 166 million years that humans and platypus have been evolving separately. (oniscience.com)
Fetal1
- We were detecting fetal Y chromosomes in women. (medscape.com)
Sequence2
- From Sanger sequencing , which made it possible to sequence the human genome, to the microarray technologies that enabled the first large-scale genome-wide experiments, new instruments and tools have allowed us to look ever more deeply into the genome and apply the results broadly to health , agriculture and ecology . (googleblog.com)
- This protein has the identical amino acid coding (sequence) found in Human DNA-Chromosome 8. (ethealing.com)
Specimens3
- We used 10 different HRV primer pairs and also retested specimens by using the original primer pair with our standard reagents and equipment ( 5 ). (cdc.gov)
- These analyses are fundamental in the design of control specimens present C-heterochromatic blocks in most of campaigns because their results will help determine the their 22 chromosomes, whereas non-Andean specimens have only 4-7 autosomes with C-banding. (cdc.gov)
- Mall had a collection of over 800 human embryo specimens and was at the point of wanting to do more than just collect. (asu.edu)
20,0001
- Genes on chromosome 15 are among the estimated 20,000 to 25,000 total genes in the human genome. (azolifesciences.com)
Circular1
- Bacterial DNA is usually organized into a single circular chromosome. (si.edu)
Mitochondrial1
- Some researchers include mitochondrial DNA as part of the human genome. (emedicinehealth.com)