• We have isolated and analyzed the sequence of bacterial artificial chromosome clones from the syntenic mouse chromosome 5 region that contains Gtf2ird1 and Gtf2i as well as a neighboring gene, Ncf1. (elsevierpure.com)
  • Chromosome 5 Open Reading Frame 47, or C5ORF47, is a protein which, in humans, is encoded by the C5ORF47 gene. (wikipedia.org)
  • The full gene spans 16,911 nucleotides, and the mRNA transcript, made up of 5 exons, spans 2511 nucleotides. (wikipedia.org)
  • The mRNA sequence of C5ORF47 is 2511 nucleotides long and consists of 5 exons and 6 introns The human C5ORF47 gene has two known isoforms, the first (XP_016864517.1) encodes a protein that is 176 amino acids in length, and the second (XP_011532733.1) encodes a protein that is 150 amino acids in length. (wikipedia.org)
  • The AMACR gene is found on chromosome 5 . (medlineplus.gov)
  • The HUMARA gene contains two alleles located on the X chromosome. (globale-dermatologie.com)
  • Indeed, in a clone of cells, only one of the alleles is expressed, because the same X chromosome is inactivated by lyonisation{Allen, 1992}, in a clone, whereas in normal {Nakamura, 2001} skin (polyclonal), the inactivated HUMARA gene allele isn't always on the same X chromosome. (globale-dermatologie.com)
  • This gene is located on the X chromosome and one of the alleles is thus inactivated. (globale-dermatologie.com)
  • This gene spans the second most common chromosomal fragile site, FRA16D and as consequence is frequently affected by genomic abnormalities and chromosomal rearrangements. (mdanderson.org)
  • This information, together with the previous identification of a child with CdLS with a de novo t(5;13)(p13.1;q12.1) translocation, allowed delineation of a 1.1-Mb critical region on chromosome 5 for the gene mutated in CdLS. (nih.gov)
  • Gain of short arm of chromosome 5 (5p) is the most frequent karyotypic change in CC. Methods: To examine the role of 5p gain, we performed a combination of single nucleotide polymorphism (SNP) array, fluorescence in situ hybridization (FISH), and gene expression analyses on invasive cancer and in various stages of CC progression. (columbia.edu)
  • We integrated chromosome 5 genomic copy number and gene expression data to identify key target over expressed genes as a consequence of 5p gain. (columbia.edu)
  • When a HEG is integrated into its recognition sequence in the genome, its protein product acts to cleave its cognate site on the homologous chromosome and gene conversion or homologous recombination can result in a new copy of the HEG being inserted. (plos.org)
  • In particular, HEG gene drive could be particularly effective if activity was restricted to the male germline to target genes required for female fertility/viability or engineered to destroy the X-chromosome by cutting at multiple X-specific sites [5] , [6] . (plos.org)
  • This gene encodes a member of the 5'-3' exonuclease family. (nih.gov)
  • The plaid model [5] introduces a statistical model assuming that the expression value in a bicluster is the sum of the main effect, the gene effect, the condition effect, and the noise term, i.e. (columbiagypsy.net)
  • The higher incidence of ccRCC in male patients may partially be accounted by mono-allelic inactivation of the chromatin remodelling gene, KDM5C on the X chromosome [ 6 ]. (springer.com)
  • Development of comparative physical gene maps for cattle, sheep, goat and deer by fluorescence in situ hybridisation (FISH) using ovine bacterial artificial chromosome (BAC) clones. (edu.au)
  • Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities . (wikidoc.org)
  • The following are some of the gene count estimates of human chromosome 5. (wikidoc.org)
  • Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction ). (wikidoc.org)
  • 11 SNPs exceeded genome-wide significance with the strongest association with rs12913832 SNP on chromosome 15, mapping to HERC2 gene (p=6.94x10-14). (cdc.gov)
  • Contains the 5' end of the gene KIAA1637, an RPL13 (60S ribosomal protein L13) pseudogene, the TNFRSF5 gene for tumor necrosis factor receptor superfamily member 5, ESTs, STSs, GSSs and two CpG islands. (lu.se)
  • 2002, while the estimated number could be deletion in the CCR5 gene [ 5,6 ]. (who.int)
  • Seven different mildew resistant wheat lines derived from crosses between triticale and bread wheat were examined by molecular cytogenetics and chromosome C-banding in order to determine their chromosomal composition. (unboundmedicine.com)
  • But genomic hybridazation cannot detect chromosomial aberrations of less than 2 kilobases, the authors thus acknowledge that a small chromosomal change can be present. (globale-dermatologie.com)
  • In particular, G band analysis usually does not show the chromosomal origin of small marker chromosomes or of a small amount of extra material detected on otherwise normal chromosomes. (bmj.com)
  • Comparative genomic hybridisation (CGH) is one of several molecular approaches that can be applied to ascertain the origin of extra chromosomal material. (bmj.com)
  • Chromosomal identification of marker chromosomes and extra bands on chromosomes through molecular techniques is always of clinical interest. (bmj.com)
  • If you already know about chromosomal evolution or do not care, jump directly to information on Drosera chromosome numbers. (carnivorousplants.org)
  • The protein also plays a role in the copying (replication) of DNA in preparation for cell division and the activity (expression) of many genes by being involved in the organization of chromosomes within the nucleus. (medlineplus.gov)
  • The candidate interval was shown to exhibit an extraordinary level of alternate splicing - 19 transcripts were identified for the 5 protein coding genes, but it appears that a significant portion (14/19) of these alternate transcripts did not have an open reading frame, hence their functional role is questionable. (biomedcentral.com)
  • This whole package of DNA (genome) and protein (epigenome) in a chromosome is what controls the development and maintenance of eukaryotic organisms (protists, fungi, animals, and plants). (carnivorousplants.org)
  • Download DNA or protein sequence, view genomic context and coordinates. (yeastgenome.org)
  • You can use random sequence oligonucleotides to identify single nucleotide polymorphisms (SNPs) as well as small scale chromosome events, primarily insertions or deletions [ 5,6 ]. (idtdna.com)
  • We have used comparative genomic hybridisation to analyse 19 constitutional chromosome abnormalities detected by G band analysis, including seven deletions, five supernumerary marker chromosomes, two interstitial duplications, and five chromosomes presenting with abnormal terminal banding patterns. (bmj.com)
  • Genome analysis revealed several amplifications and deletions within the chromosomes of each iPS type. (biomedcentral.com)
  • Standard chromosome analysis by G-banding has a limited resolution, but molecular cytogenetic techniques, such as multi-subtelomeric FISH, microdeletion FISH, multicolour FISH and comparative genomic hybridisation (CGH), have played an important role for the diagnosis of MR during the past decade. (bmj.com)
  • Screening for chromosome imbalances was carried out using comparative genomic hybridisation (CGH) in 14 frozen samples of tumour from a series of 13 breast cancer patients with multiploid (n = 11) and hypertetraploid (n = 2) tumours. (bmj.com)
  • Comparative genomic hybridization (CGH) has been developed to elucidate genome-wide sequence copy number variation (CNV) between different genomes, such as the differential amplification or deletion of genetic regions between tumor DNA and normal DNA from neighboring unaffected tissue [ 7-10 ]. (idtdna.com)
  • Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. (idtdna.com)
  • High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. (idtdna.com)
  • Comparative genomic hybridisation (CGH) is a dual fluorescence in situ hybridisation protocol capable of detecting global gains and losses of genomic regions by competitive DNA hybridisation. (bmj.com)
  • The women were randomly assigned to undergo embryo selection for transfer on the basis of day-5 morphology or PGD-A using array comparative genomic hybridization (aCGH) for 24-chromosome testing before the start of treatment. (medscape.com)
  • Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF. (medscape.com)
  • PCR-based markers and cytogenetic analysis with genomic in situ hybridisation were applied to identify alien chromatin in four genetically diverse populations of wheat ( Triticum aestivum ) lines incorporating chromosome segments from Thinopyrum intermedium and Secale cereale (rye). (nature.com)
  • Constitutional chromosome studies involving conventional GTG band cytogenetic analysis, however, often show unbalanced karyotypes which cannot be fully defined because the extra material is too small to have a recognisable banding pattern. (bmj.com)
  • The possible hypoxia response element (HRE) sequences in 5' non-coding Region before ATG start codon of Sema4D were screened, followed by point mutagenesis and luciferase assay analysis. (jcancer.org)
  • As a sub-objective, since PDE10A transcript variants were reported strictly through analyses of bovine genomic sequence, we also wanted to determine the nucleotide and amino acid sequences by experimental evidence. (plos.org)
  • CGH has been widely applied to detect gains and losses of DNA sequences on specific chromosomes in the study of solid tumours, 1 but has not been extensively used to study unbalanced constitutional karyotypes. (bmj.com)
  • During investigation of the molecular mechanism of large DNA fragmentation in apoptosis, we found that one of our clones, which were derived from 30kb DNA fragments generated from heat-treated human cells, mached perfectly with many sequences in E. coli genomic DNA, E. coli cDNA, a Neiserria plasmid, and several human genomic DNAs and cDNAs. (go.jp)
  • Cytosine modifications in DNA such as 5-methylcytosine (5mC) underlie a broad range of developmental processes, maintain cellular lineage specification, and can define or stratify types of cancer and other diseases. (biomedcentral.com)
  • Genomic in situ hybridisation (GISH) showed the presence of rye germplasm in all the lines and identified three substitution lines, three double substitution lines and one addition-substitution line. (unboundmedicine.com)
  • We discuss internal quality control measures, such as the mismatching of test and reference DNA in order to assess the quality of the competitive hybridisation effect on the X chromosome. (bmj.com)
  • As in somatic cells, sperm intracellular cAMP concentration is regulated by the opposite action of two enzymes: the adenylyl cyclases (AC), which synthesize cAMP from ATP, and the phosphodiesterases (PDE), which break the phosphodiester bond of cAMP to form 5'-adenosine monophosphate (AMP). (plos.org)
  • Recurring somatic whole chromosome duplications affecting Chromosome 7 (16.8%), chromosome 5 (10.9%), and chromosome 20 (9.9%) were observed among LEAT. (mdc-berlin.de)
  • The somatic NKX2-5 sequence variants were defects. (cdc.gov)
  • Despite the large chromosome fragments involved in the unbalanced translocation in this case, repeated standard G-band analysis could not reveal this rearrangement due to the similarity in the banding pattern of the chromosome fragments involved. (bmj.com)
  • Others have applied CGH to the study of constitutional chromosome abnormalities detected postnatally. (bmj.com)
  • CMA offers the highest diagnostic yield (approximately 15-20%) in individuals with unexplained DD/ID, ASD, and multiple congenital anomalies (MCAs) and is preferred to chromosome analysis (karyotyping). (arupconsult.com)
  • Ways to abrogate heterogeneity will be required to optimise the genomic classification of tumours. (springer.com)
  • Not only has knowledge of the genomic landscape helped inform the development of new drugs, this understanding also promises to improve risk stratification of tumours and to determine their sensitivity to systemic therapies. (springer.com)
  • The high resolution framework map obtained in this study has markers covering the entire chicken chromosome 5 and reveals the existence of a high number of rearrangements when compared to the human genome. (biomedcentral.com)
  • This information was used to develop markers from chicken EST sequence data orthologous to genes in these human regions, in addition to the existing markers from the chicken chromosome 5 genetic map. (biomedcentral.com)
  • In human dividing cells 46 chromosomes can be observed. (carnivorousplants.org)
  • In fact, 1147bp DNA, containing the 153bp sequence, was apparently shared between human chromosomes 12, 13, and 21 and E. coli . (go.jp)
  • 3] "Molecular cloning, functional characterization and genomic organization of four alternatively spliced isoforms of the human organic cation transporter 1 (hOCT1/SLC22A1). (tcdb.org)
  • 5] "The DNA sequence and analysis of human chromosome 6. (tcdb.org)
  • Human chromosome 5 pair after G-banding . (wikidoc.org)
  • Chromosome 5 pair in human male karyogram . (wikidoc.org)
  • The following is a partial list of genes on human chromosome 5. (wikidoc.org)
  • Furthermore, 5-ALA intensity was measured by flow cytometry on human gliomasphere lines (BT112 and BT145). (bvsalud.org)
  • Human DNA sequence from clone RP4-599F21 on chromosome 20q12-13.12. (lu.se)
  • 19- 22 Yet none of these techniques is able to offer a high resolution screening of the whole genome for chromosome imbalances. (bmj.com)
  • We use a combination of state-of-the-art genomic methods, including whole genome, RNA and Exome sequencing as well as single-cell DNA and RNA-sequencing and leukemia mouse models in our work. (lu.se)
  • Cellular 5'-3' mRNA exonuclease Xrn1 controls double-stranded RNA accumulation and anti-viral responses. (nih.gov)
  • Multiple groups have made recommendations regarding additional testing for fragile X syndrome (FXS), inborn errors of metabolism (IEMs), X-linked intellectual disability, MECP2 -related disorders, PTEN -related disorders, and/or chromosome analysis, depending on clinical findings and family history. (arupconsult.com)
  • Some insights into clinical risk factors and their genomic correlates have been made. (springer.com)
  • Adjuvant polychemotherapy (e.g. with 58% to 68%) for patients under the age of 50.1 Besides an cyclophosphamide, methotrexate and 5-fluorouracil (CMF)) or improvement in clinical outcome, these figures indicate that anthracycline-containing regimes, produce substantial reduc- a large proportion of the patients will never recur after the tion in recurrence and mortality. (lu.se)
  • 31, 32 In this report we used a cDNA micro-array and two BAC clone micro-arrays on 10 previously identified cases containing 16 cryptic chromosome aberrations, to test their performance for the detection of small imbalances. (bmj.com)
  • All chromosome imbalances were size mapped using BAC and PAC clones based on clone mapping databases ( www.ensembl.org , July 2003), except for case 9, which was size mapped using a chromosome 22 specific micro-array. (bmj.com)
  • The resolution of radiation hybrid (RH) maps is intermediate between that of the genetic and BAC (Bacterial Artificial Chromosome) contig maps. (biomedcentral.com)
  • These high-risk pathogens have developed mainly by acquiring different mobile genetic elements (MGEs), including plasmids and genomic islands (GIs) encoding an array of virulence and antibiotic resistance factors[ 2 ]. (biorxiv.org)
  • In spite of our lack of attention to chromosomes and chromosome numbers in formally defining species, it is the chromosomes and the genetic material they contain that define true species and control the evolution of new species. (carnivorousplants.org)
  • The more similar the chromosomes (the genome and epigenome as well as chromosome number) the more likely hybrids will form and reproduce but also the more likely the net result will only be the introgression of genetic material from one species to the other. (carnivorousplants.org)
  • These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. (who.int)
  • Some genetic diseases, such as haemophilia, are carried on the X-chromosome (these X-linked disorders occur mainly in men). (who.int)
  • ii) quan- genetic factors together can influence genomic stability. (cdc.gov)
  • Biotech Europe GmbH, Freiburg, Germa- cation of the virus in cells heterozygous for ny) was used to extract genomic DNA the mutation proceeded at an intermediate from white blood cells following the lysis rate [ 5 ]. (who.int)
  • In Chile, although a sustained increase in CR- Kp infections has been observed, few strains have been described at the genomic level, lacking molecular details of their resistance and virulence determinants and the mobile elements mediating their dissemination. (biorxiv.org)
  • 92% were tropic HIV-1 strains into target cells [ 5-7 ]. (who.int)
  • Genomic characterization and prognostication applied to a Brazilian cohort of patients with myelofibrosis. (cdc.gov)
  • Hematol Oncol Clin North Am . 1995 Oct. 9(5):1077-88. (medscape.com)
  • The 10 cases contained altogether 16 aberrations, with sizes ranging from 1.3 to 20.5 Mb, and they were located on 15 different chromosome arms. (bmj.com)
  • We carried out genome-wide linkage exclusion analysis in 12 families with CdLS and identified four candidate regions, of which chromosome 5p13.1 gave the highest multipoint lod score of 2.7. (nih.gov)
  • In this paper, we perform a genome-wide association study using a 22K SNP potato array to identify for the first time genomic regions associated with starch granule morphology and to increase number of known genome loci associated with potato starch yield. (peerj.com)
  • 5 × 10 −8 ) has been used for genome-wide association studies (GWAS). (springer.com)
  • Eight SNPs are situated close to each other on the chromosome 1 and 19 SNPs-on the chromosome 2, forming two DNA regions-potential QTLs, regulating aspect ratio and roundness of the starch granules. (peerj.com)
  • The preparative yield of tuber starch is a polygenic trait that is associated with a number of SNPs from various regions and chromosomes in the potato genome. (peerj.com)
  • We focused on SNPs within or near TACR1/LOC105374811 (chromosome 2) and CTNNA3/DNAJC12 (chromosome 10). (cdc.gov)
  • Chromosome 5 spans about 181 million base pairs (the building blocks of DNA ) and represents almost 6% of the total DNA in cells . (wikidoc.org)
  • U.S. Patent No. 8,795,959 titled "Isolated glucokinase genomic polynucleotide fragments from chromosome 7" was issued August 5, 2014. (generalpatent.com)
  • The helix-loop-helix repeats of Gtf2ird1 and Gtf2i are encoded separately on adjacent exons and were generated by independent genomic rearrangements. (elsevierpure.com)
  • Although the structural chromosome abnormalities in these cases were too small to identify the origin of the extra genomic material based on banding pattern, none of the abnormalities described by these authors can be considered to be subtle or cryptic. (bmj.com)
  • Ghaffari et al 5 used CGH to detect cryptic translocations in families with extensive histories of mental retardation. (bmj.com)
  • 3- 16 However, these probes only reveal chromosome rearrangements located in the subtelomeric region. (bmj.com)
  • Routine chromosome analysis (450-500 bands) had failed to detect the rearrangements in all cases. (bmj.com)
  • The resistance profile closely resembled that of the widespread CTX-M-65‒producing Salmonella Infantis clone ( 5 ). (cdc.gov)
  • The role of the rye chromosomes in the mildew resistance, the utilisation of the inverted 1R and the significance of the lines in wheat breeding are discussed. (unboundmedicine.com)
  • An increasing incidence of Salmonella Infantis infections has been reported in the United States ( 3 ), accompanied by emergence and spread of an extended-spectrum β-lactamase CTX-M-65‒producing Salmonella Infantis clone in humans, food animals, and retail chicken ( 4 , 5 ). (cdc.gov)
  • Chromosome 5 is one of the 23 pairs of chromosomes in humans . (wikidoc.org)