DNA Repair and DNA Triplet Repeat Expansion: The Impact of Abasic Lesions on Triplet Repeat DNA Energetics
نویسندگان
چکیده
منابع مشابه
Conformational energetics of stable and metastable states formed by DNA triplet repeat oligonucleotides: implications for triplet expansion diseases.
We have embedded the hexameric triplet repeats (CAG)(6) and (CTG)(6) between two (GC)(3) domains to produce two 30-mer hairpins with the sequences d[(GC)(3)(CAG)(6)(GC)(3)] and d[(GC)(3)(CTG)(6)(GC)(3)]. This construct reduces the conformational space available to these repetitive DNA sequences. We find that the (CAG)(6) and (CTG)(6) repeats form stable, ordered, single-stranded structures. The...
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The human genome contains many simple tandem repeats that are widely dispersed and highly polymorphic. At least one group of simple tandem repeats, the DNA trinucleotide repeats, can dramaticallyexpand in size during transmission from one generation to the next to cause disease by a process known as dynamic mutation. We investigated the ability of trinucleotide repeats AAT and CAG to expand in ...
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Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia. One the most frequently occurring types of mutation is trinucleotide repeat expansion. The present study was conducted with the aim of investigating the cause...
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3 Type 1: The CAG/Polyglutamine Repeat Diseases 9 3.1 Spinal and Bulbar Muscular Atrophy 9 3.2 Huntington’s Disease 12 3.3 Dentatorubral Pallidoluysian Atrophy 15 3.4 Spinocerebellar Ataxia Type 1 16 3.5 Spinocerebellar Ataxia Type 2 18 3.6 Spinocerebellar Ataxia Type 3/Machado–Joseph Disease 19 3.7 Spinocerebellar Ataxia Type 6 21 3.8 Spinocerebellar Ataxia Type 7 22 3.9 Spinocerebellar Ataxia...
متن کاملTriplet repeat expansion mutations: the example of fragile X syndrome.
Mental retardation represents a deficiency in intelligence, as measured by IQ, with limited adaptive behavior that is normally reflected in maturation, learn ing, or social adjustment (American Psychiatric Association 1987). Approxi mately 1 to 3% of the population, depending upon definitions of adaptive behavior, is mentally retarded (Popper 1988). The etiologies and determinants of mental r...
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ژورنال
عنوان ژورنال: Journal of the American Chemical Society
سال: 2009
ISSN: 0002-7863,1520-5126
DOI: 10.1021/ja902161e