• Our objectives were to determine the abundance of trinucleotide microsatellites and the rate at which they can be developed into informative markers. (usda.gov)
  • A genomic library from Chinese Spring' (CS) was screened with 5 trinucleotide probes and about 1.1% of the clones contained microsatellites. (usda.gov)
  • Short tandem repeats (STRs), or microsatellites, are 1-6 base pair (bp) motifs of repeating units of DNA. (biomedcentral.com)
  • The white shark transcriptome also contained 8,404 microsatellites (dinucleotide, trinucleotide, or tetranucleotide motifs ≥ five perfect repeats). (sharkyear.com)
  • Detailed characterization of these microsatellites showed that ORFs with trinucleotide repeats, were significantly enriched for transcription regulatory roles and that trinucleotide frequency within ORFs was lower than for a wide range of taxonomic groups including other vertebrates. (sharkyear.com)
  • Eighteen tandem repeats and 404 microsatellites are distributed unevenly throughout the S. purpurea mt genome. (springeropen.com)
  • The expansions were identified in whole-genome datasets within genomic segments that all affected family members shared. (lu.se)
  • Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. (biomedcentral.com)
  • Regions of repetitive DNA, in particular trinucleotide repeats, are common throughout the human genome and are of interest as a source of genomic instability. (brown.edu)
  • Certain segments of the genome repeat over and over again. (xcode.in)
  • In the present study, researchers evaluated the effects of LCRs, including all short tandem repeats (STRs) and homopolymer, changes in the MPXV genome. (sepoy.net)
  • We report these two new plastid genome sequences and make comparisons (within angiosperms, seed plants, or all photosynthetic lineages) to evaluate features such as the status of ycf15 and ycf68 as protein coding genes, the distribution of simple sequence repeats (SSRs) and longer dispersed repeats (SDR), and patterns of nucleotide composition. (biomedcentral.com)
  • In the majority of angiosperm chloroplast genomes two copies of a large inverted repeat (IR) of about 25 kb separate the remainder of the genome into two regions of unique DNA, the large (about 90 kb) and small (about 20 kb) single copy regions (LSC and SSC, respectively). (biomedcentral.com)
  • We assembled the complete Salix purpurea L. mt genome by screening genomic sequence reads generated by a Roche-454 pyrosequencing platform. (springeropen.com)
  • The mitochondrial (mt) genome has drawn increased attention during the genomic and now post-genomic eras owing to its maternal pattern of inheritance and unique evolutionary features, and is often used for the phylogenetic study of plants (Gualberto et al. (springeropen.com)
  • The Web site "www.artichokegenome.unito.it" hosts all the available genomic sequences, together with their structural/functional annotations and project information are presented to users via the open-source tool JBrowse, allowing the analysis of collinearity and the discovery of genomic variants, thus representing a one-stop resource for Cynara cardunculus genomics. (researchgate.net)
  • Comparative chloroplast genomics as well as detailed characterizations of individual chloroplast genomes serve as the basis for functional genomic studies [ 20 ] and can direct attempts at chloroplast transformation for genetic engineering [ 21 ]. (biomedcentral.com)
  • In broader comparisons, SSRs vary among genomes in terms of abundance and length and most contain repeat motifs based on A and T nucleotides. (biomedcentral.com)
  • SSRs occur less frequently than predicted and, although the majority of the repeat motifs do include A and T nucleotides, the A+T bias in SSRs is less than that predicted from the underlying genomic nucleotide composition. (biomedcentral.com)
  • We tested for an association between variable number of tandem repeats in the canine androgen receptor (AR) gene and personality differences in Japanese Akita Inu dogs. (akitadog.eu)
  • They have various complexity levels, such as dinucleotide, trinucleotide, or more complex palindromic repeats. (sepoy.net)
  • Dr. Flannery also describes single gene sequencing, deletion/duplication testing chromosomal microarray (CMA) testing and detection of trinucleotide repeats. (genome.gov)
  • The gene contains a 5' UTR rich in CAG trinucleotide repeats. (wikipedia.org)
  • One region of the AFF2 gene contains a particular DNA segment known as a CCG trinucleotide repeat, so called because this segment of three DNA building blocks (nucleotides) is repeated multiple times within the gene. (medlineplus.gov)
  • Nearly all cases are caused by a mutation called a CCG trinucleotide repeat expansion, in which the CCG trinucleotide is abnormally repeated more than 200 times, which makes this region of the gene unstable. (medlineplus.gov)
  • We modified BAC vectors carrying the whole FXN genomic DNA locus by inserting the luciferase gene in exon 5a of the FXN gene (pBAC-FXN-Luc) and replacing the six GAA repeats present in the vector with an ∼310 GAA repeat expansion (pBAC-FXN-GAA-Luc). (ox.ac.uk)
  • We demonstrate that the presence of expanded GAA repeats recapitulates the epigenetic modifications and repression of gene expression seen in FRDA. (ox.ac.uk)
  • These results suggest the potential use of genomic reporter cell models for the study of FRDA and the identification of novel therapies, combining physiologically relevant expression with the advantages of quantitative reporter gene expression. (ox.ac.uk)
  • Histone post-translational modifications near the expanded repeats are consistent with heterochromatin formation and consequent FXN gene silencing. (frontiersin.org)
  • TTC triplet repeat expansion in an intron of the nuclear FXN gene, which encodes the essential mitochondrial protein frataxin ( 1 ). (frontiersin.org)
  • The polymorphic trinucleotide (CAG) repeat region coding for glutamine in exon 1 of the AR gene was genotyped using genomic DNA obtained from 171 dogs. (akitadog.eu)
  • Characterization of the Wilson disease gene encoding a P-type copper transposting ATPase: genomic organization, alternative splicing, and structure/function predictions. (scielo.br)
  • Huntington disease is caused by an expanded CAG trinucleotide repeat in the gene that encodes the protein huntingtin. (medscape.com)
  • In copy number variations, certain genetic features are repeated again and again as in multiple copies are present. (xcode.in)
  • 23andme's technology is not designed to analyze repeated, inserted, inverted, translocated, or deleted segments of DNA, in most cases 23andme cannot provide information about copy number or other genetic features that are related to the number or order of base pairs present. (xcode.in)
  • Several genetic epidemiologic studies mapping complex disease-causing genes have been designed to take advantage of the population genetic characteristics of contemporary African populations for fine mapping of informative genomic regions. (biomedcentral.com)
  • Starting in June 2015 , thirteen live webinars were produced by volunteer experts in genetic and genomic medicine and testing. (genome.gov)
  • Dr. Solomon provides an overview of genetic/genomic testing, then describes a series of cases with associated pedigrees for each. (genome.gov)
  • This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. (fulgentgenetics.com)
  • In a recent study posted to the bioRxiv * server, researchers performed a genomic study of confirmed Monkeypox virus (MPXV) cases diagnosed in Spain between 18 May and 14 July 2022. (sepoy.net)
  • however, these studies have failed to resolve genomic regions with many repeats, especially the low-complexity regions (LCRs). (sepoy.net)
  • trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). (fulgentgenetics.com)
  • There is an urgent need to study these genomic features in the context of MPXV's evolutionary adaptation. (sepoy.net)
  • A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds. (ox.ac.uk)
  • Understanding such mechanism is essential for the identification of novel therapies for FRDA and this can be accelerated by the development of cell models which recapitulate the genomic context of the FXN locus and allow direct comparison of normal and expanded FXN loci with rapid detection of frataxin levels. (ox.ac.uk)
  • Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. (medlineplus.gov)
  • Here, we report the discovery of exonic GGC trinucleotide repeat expansions, encoding poly-glycine, in zinc finger homeobox 3 (ZFHX3) in these families. (lu.se)
  • We also found ZFHX3 repeat expansions in three additional families, all from the region of Skåne in southern Sweden. (lu.se)
  • Our findings demonstrate that SCA4 is caused by repeat expansions in ZFHX3. (lu.se)
  • This analysis also includes an examination of C9orf72 repeat expansions by repeat-primed PCR (rpPCR) but does not include C9orf72 methylation studies. (tesiscolorado.com)
  • We applied the GAA-expanded reporter model to the screening of a library of novel small molecules and identified one molecule which up-regulates FXN expression in FRDA patient primary cells and restores normal histone acetylation around the GAA repeats. (ox.ac.uk)
  • TTC repeats ( 6 , 7 , 15 ), as well as with reduced histone acetylation and increased histone trimethylation at the FXN promoter ( 6 , 8 ), and in intron 1 adjacent to the repeats ( 5 - 7 ). (frontiersin.org)
  • Whole exome sequencing is not suitable for detecting polynucleotide repeat disorders or large insertion/deletions. (medlink.com)
  • Perfect repeats mutate about 2 × more often than imperfect repeats. (biomedcentral.com)
  • scolymus) has been used to catalog the genome's content of simple sequence repeat (SSR) markers. (researchgate.net)
  • The Global Repeat Map (GRM) algorithm is a convenient computational tool to determine consensus repeat units and their exact size within a given genomic sequence, both of monomeric and higher-order (HOR) type. (srce.hr)
  • Alpha satellites are tandemly repeated sequences found in all human centromeres. (srce.hr)
  • Among clade IIb, B1 strains consistently showed 16 repeats. (sepoy.net)
  • The white shark heart transcriptome represents a valuable resource for future elasmobranch functional and comparative genomic studies, as well as for population and other biological studies vital for effective conservation of this globally vulnerable species. (sharkyear.com)
  • The SSRs were categorized for the numbers of repeats present, their overall length and were allocated to their linkage group. (researchgate.net)
  • Glucose- or phosphate-limited growth produced frequent genomic amplifications, rearrangements and novel retrotransposition. (uchicago.edu)
  • The 23andMe genotyping platform is not capable of detecting trinucleotide repeats and therefore 23andMe reports do not include any condition on trinucleotide repeat disorders. (xcode.in)
  • Nor is there relevant data related to trinucleotide repeat disorders in the raw data. (xcode.in)
  • The most common SCA are characterized by expanded CAG trinucleotide that repeats the encode glutamine amino acid, the so-called polyglutamine diseases. (scielo.br)
  • Previous studies have shown that genomic accordions are a rapid path for adapting poxviruses during serial passaging. (sepoy.net)
  • Since the current study results showed a limited relation between SNP changes and virus epidemiology, a potential convergence effect has likely occurred for this class of viruses, which asks for a change of focus in their genomic epidemiology studies. (sepoy.net)
  • Only two genomic samples, 353R and 349R, produced high-quality viral reads for an allele frequency comparison in most LCR areas. (sepoy.net)
  • Preliminary results indicate that high quality trinucleotide microsatellite markers can be developed in wheat. (usda.gov)
  • In some cases, genomic features may be deleted or new features inserted (in comparison to reference genomes). (xcode.in)
  • Glunčić M, Rosandić M, Jelovina D, Dekanić K, Vlahović I, Paar V. Global Repeat Map Method for Higher Order Repeat Alpha Satellites in Human and Chimpanzee Genomes (Build 37.2 Assembly). (srce.hr)
  • two genes preferentially expressed in differentiating xylem of loblolly pine (pinus taeda l.) were cloned from cdna and genomic libraries and designated ptx3h6 and ptx14a9. (liverpool.ac.uk)
  • Individuals with expanded repeats developed balance and gait disturbances at 15 to 60. (lu.se)
  • Individuals with expanded repeats developed balance and gait disturbances at 15 to 60 years of age and had sensory neuropathy and slow saccades. (lu.se)
  • TTC repeats, whereas affected individuals have from approximately 70 to more than 1,000 triplets. (frontiersin.org)
  • Despite this, surprisingly little is known about the biology of white sharks, and genomic resources are unavailable. (sharkyear.com)
  • The decision to rescreen a patient should be undertaken only with the guidance of a genetics professional who can best assess the incremental benefit of repeat testing for additional mutations. (acog.org)
  • Genomic changes in Mycoplasma pneumoniae caused by adaptation to environmental or ecologic pressures are poorly understood. (cdc.gov)
  • We also compare the codon-like trinucleotide (CLT) extensions of human and chimpanzee chromosome 4. (srce.hr)
  • One important type of genomic variation is Copy Number Variations (CNVs) . (xcode.in)
  • This type of repeating can lead to diseases such as Huntington's Disease and Fragile X syndrome . (xcode.in)