A novel approach to investigate tissue-specific trinucleotide repeat instability
نویسندگان
چکیده
منابع مشابه
Tissue specificity in DNA repair: lessons from trinucleotide repeat instability.
DNA must constantly be repaired to maintain genome stability. Although it is clear that DNA repair reactions depend on cell type and developmental stage, we know surprisingly little about the mechanisms that underlie this tissue specificity. This is due, in part, to the lack of adequate study systems. This review discusses recent progress toward understanding the mechanism leading to varying ra...
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enes harboring certain trinucleotide repeat (TNR) sequences are at risk for high-frequency mutations that expand or contract the repeat tract. The triplet sequences CNG (where N = any nucleotide) and GAA are known to cause human disease when they expand by more than a few repeats in certain key genes. One of the crucial questions in the field is the mechanism (or, more likely, mechanisms) of tr...
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Trinucleotide repeat (TNR) instability in humans is governed by unique cis-elements. One element is a threshold, or minimal repeat length, conferring frequent mutations. Since thresholds have not been directly demonstrated in model systems, their molecular nature remains uncertain. Another element is sequence specificity. Unstable TNR sequences are almost always CNG, whose hairpin-forming abili...
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CAGR1 is a recently characterised polymorphic trinucleotide repeat localised to 13q13, which has been suggested as a possible candidate gene for neurological disorders that manifest genetic anticipation. To provide evidence in support of this hypothesis, a large number of chromosomes (n = 928) from patients with a wide variety of neurological diseases were screened for evidence of repeat expans...
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Expanded CAG-CTG trinucleotide repeat tracts are associated with a number of hereditary neurodegenerative and neuromuscular diseases such as Huntington's disease, myotonic dystrophy and spinocerebellar ataxias. These diseases are characterized by the phenomenon of genetic anticipation, which is defined by a decrease in the age of onset and an increase in severity of the disease with successive ...
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ژورنال
عنوان ژورنال: BMC Systems Biology
سال: 2010
ISSN: 1752-0509
DOI: 10.1186/1752-0509-4-29