Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9. [PDF]
Mol Cell, 2017 SummaryTranscription of expanded microsatellite repeats is associated with multiple human diseases, including myotonic dystrophy, Fuchs’ endothelial corneal dystrophy, andC9orf72-ALS/FTD. Eliminating or reducing production of RNA and proteins arising from these expanded loci holds therapeutic benefit.
Pinto BS +10 more
europepmc +10 more sources
Discrepancy variation of dinucleotide microsatellite repeats in eukaryotic genomes [PDF]
Biological Research, 2009 To address whether there are differences of variation among repeat motif types and among taxonomic groups, we present here an analysis of variation and correlation of dinucleotide microsatellite repeats in eukaryotic genomes.
HUAN GAO +4 more
doaj +5 more sources
Repeat expansions confer WRN dependence in microsatellite-unstable cancers [PDF]
Nature, 2020 The RecQ DNA helicase WRN is a synthetic lethal target for cancer cells with microsatellite instability (MSI), a form of genetic hypermutability that arises from impaired mismatch repair1-4. Depletion of WRN induces widespread DNA double-strand breaks in MSI cells, leading to cell cycle arrest and/or apoptosis.
Niek van Wietmarschen +32 more
semanticscholar +7 more sources
Epigenome editing of microsatellite repeats defines tumor-specific enhancer functions and dependencies. [PDF]
Genes Dev, 2018 Boulay et al. find that a subset of microsatellite repeats is transcriptionally active in Ewing sarcoma and that silencing individual repeats abolishes local nascent transcription and leads to markedly reduced expression of putative target genes.
Boulay G +6 more
europepmc +2 more sources
Genome-wide functional perturbation of human microsatellite repeats using engineered zinc finger transcription factors [PDF]
Cell Genomics, 2022 Summary: Repeat elements can be dysregulated at a genome-wide scale in human diseases. For example, in Ewing sarcoma, hundreds of inert GGAA repeats can be converted into active enhancers when bound by EWS-FLI1.
Y. Esther Tak +16 more
doaj +2 more sources
RNA Helicases in Microsatellite Repeat Expansion Disorders and Neurodegeneration [PDF]
Frontiers in Genetics, 2022 Short repeated sequences of 3−6 nucleotides are causing a growing number of over 50 microsatellite expansion disorders, which mainly present with neurodegenerative features. Although considered rare diseases in relation to the relatively low number of cases, these primarily adult-onset conditions, often debilitating and fatal in absence of a cure ...
Lydia M. Castelli +4 more
openalex +5 more sources
Functional and immunological relevance of Anaplasma marginale major surface protein 1a sequence and structural analysis. [PDF]
PLoS ONE, 2013 Bovine anaplasmosis is caused by cattle infection with the tick-borne bacterium, Anaplasma marginale. The major surface protein 1a (MSP1a) has been used as a genetic marker for identifying A.
Alejandro Cabezas-Cruz +14 more
doaj +8 more sources
Compound microsatellite repeats: practical and theoretical features. [PDF]
Genome Research, 1999 Most linkage and population genetic studies that use microsatellites assume that the polymorphism observed at these loci is due simply to variation in the number of units of a single repeat.
L. Bull +2 more
semanticscholar +3 more sources
Rapid isolation of DNA sequences flanking microsatellite repeats.
Nucleic Acids Research, 1994 P. Rowe, F. Francis, J. Goulding
semanticscholar +6 more sources
BMC Genomics, 2021 Background Microsatellite repeats are ubiquitous in organism genomes and play an important role in the chromatin organization, regulation of gene activity, recombination and DNA replication. Although microsatellite distribution patterns have been studied
Yi Lei +3 more
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