The mutational dynamics of short tandem repeats in large, multigenerational families | Genome Biology | Full Text
Perfect repeats mutate about 2 × more often than imperfect repeats. De novo STRs are significantly enriched in Alu elements. ... Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of ... A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntingtons disease chromosomes. Cell. 1993;72 ... Short tandem repeats (STRs), or microsatellites, are 1-6 base pair (bp) motifs of repeating units of DNA. These loci make up ...
NanoSTR: A Method for Detection of Target Short Tandem Repeats Based on Nanopore Sequencing Data | Research Square
Short tandem repeats (STRs) are widely present in the human genome. Studies have confirmed that STRs are associated with more ... A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntingtons disease chromosomes. The ... Short tandem repeats (STRs), also known as microsatellites, are repetitive DNA sequences consisting of 1-6-bp motifs present in ... Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing. Nat Biotechnol 2019, 37:1478- ...
Exploring diversity of different classificatory human tandem repeats
The features of tandem repeats associated with diabetes genes were compared to the counterparts of non-diabetes disease genes. ... This project aims to detect some differ-ences which may exist within the features of dif-ferent tandem repeats associated with ... Much research has been done on de-scriptions of properties of tandem repeats, such as copy-number, period, etc, and correlation ... be-tween mutations within tandem repeats and dis-ease. ... are associated with dis-ease genes, play an important role in ...
Pesquisa | Biblioteca Virtual em Saúde - BRASIL
Tandem repeat expansions are enriched in autism spectrum disorder, including CTG expansion in the DMPK gene that underlines ... CNBP, the gene containing an intronic CCTG microsatellite expansion in DM type 2 (DM2), is coordinately expressed with MBNL1 in ... Cyclic mismatch binding ligands interact with disease-associated CGG trinucleotide repeats in RNA and suppress their ... due to the instability of a non-coding microsatellite in the DMPK gene and the expression of CUG expansion (CUGexp) RNAs. ...
DNA Repeat Expansion | Profiles RNS
Tandem Repeat Sequences. *DNA Repeat Expansion. *DNA, Satellite. *Inverted Repeat Sequences. *Microsatellite Repeats ... DNA Repeat Expansion*DNA Repeat Expansion. *DNA Repeat Expansions. *Expansion, DNA Repeat ... "DNA Repeat Expansion" by people in UAMS Profiles by year, and whether "DNA Repeat Expansion" was a major or minor topic of ... DNA Repeat Expansion. *Gene Amplification. *Gene Duplication. *INDEL Mutation. *Mutagenesis, Insertional. *Nondisjunction, ...
Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in...
Chromatin changes caused by CGG repeat expansion in fmr1 gene]. Yudkin DV, Lemskaya NA, Grischenko IV, Dolskiy AA. Yudkin DV, ... Genome-wide detection of short tandem repeat expansions by long-read sequencing. Liu Q, Tong Y, Wang K. Liu Q, et al. BMC ... Microsatellite Analysis of Geographically Close Isolates of Cystoisospora suis. Joachim A, Ruttkowski B, Palmieri N. Joachim A ... Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1. Basehore MJ ...
Insights into the Loblolly Pine Genome: Characterization of BAC and Fosmid Sequences | PLOS ONE
In addition to repeats, analysis of the coding region reported 23 full-length eukaryotic orthologous proteins (KOGS) and ... and one of the most comprehensive studies of repetitive elements and genes in a gymnosperm species. A combination of homology ... long terminal repeat) retrotransposons. Through de novo approaches, 6,270 novel, full-length transposable element families and ... another 29 novel or orthologous genes. These discoveries, along with other genomic resources, will be used to annotate conifer ...
Webinar: Genomic Repeats Link Cancer and Neurodegeneration | The New York Academy of Sciences
... as well as the DNA damage response and repair pathways that modulate the pathogenesis of genome repeats. ... Apart from antimutator functions, MMR genes can act as mutators, e.g., by promoting trinucleotide repeat expansion.. Genomic ... In tandem repeats, such as triplet and tetranucleotide microsatellite RS, multiple copies of a short DNA sequence occur ... Second, failure of MMR function manifests itself as contractions or expansions of short repetitive sequences, microsatellites, ...
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased...
However, it is still possible that an unidentified gene with repeat expansion producing polyserine is the pathogenic gene of ... robust detection of tandem repeat expansions from long DNA reads. Genome Biol 20(1):58 ... caused by the expansion of trinucleotide repeats [8]. For example, nine neurodegenerative diseases, including Huntington ... Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A 108(1):260-265 ...
DeCS
DNA Repeat Expansion Entry term(s). DNA Repeat Expansions Expansion, DNA Repeat Expansions, DNA Repeat Repeat Expansion, DNA ... Trinucleotide Repeat Expansion [G05.558.220.865] Trinucleotide Repeat Expansion * Gene Amplification [G05.558.315] ... Expanded DNA Repeats. Expansion, DNA Repeat. Expansions, DNA Repeat. Repeat Expansion, DNA. Repeat Expansions, DNA. Repeat, ... Microsatellite Repeats [G02.111.570.080.708.800.500] Microsatellite Repeats * Minisatellite Repeats [G02.111.570.080.708.800. ...