Triplet repeat DNA structures and human genetic disease: dynamic mutations from dynamic DNA
نویسندگان
چکیده
منابع مشابه
Expandable DNA Repeat and Human Hereditary Disorders
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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Research on ancient DNA (aDNA) has the potential to enable molecular biologists and archeologists to decipher certain aspects of history by direct looking into the past. However, several major problems in this field limit the applicability of aDNA studies, most importantly contamination with modern DNA and postmortem DNA degradation. In this study we extracted and analyzed aDNA obtained from ~3...
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DNA repeat domains can form ensembles of canonical and noncanonical states, including stable and metastable DNA secondary structures. Such sequence-induced structural diversity creates complex conformational landscapes for DNA processing pathways, including those triplet expansion events that accompany replication, recombination, and/or repair. Here we demonstrate further levels of conformation...
متن کاملDNA structures, repeat expansions and human hereditary disorders.
Expansions of simple DNA repeats are responsible for more than two dozen hereditary disorders in humans, including fragile X syndrome, myotonic dystrophy, Huntington's disease, various spinocerebellar ataxias, Friedreich's ataxia and others. During the past decade, it became clear that unusual structural features of expandable repeats greatly contribute to their instability and could lead to th...
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Mitochondria contain their own DNA (mtDNA), which codes for 13 proteins (all subunits of the respiratory chain complexes), 22 tRNAs and 2 rRNAs. Several mtDNA point mutations as well as deletions have been shown to be causative in well-defined mitochondrial disorders. A mixture of mutated and wild type mtDNA (heteroplasmy) is found in most of these disorders. Inheritance of mtDNA is maternal, a...
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ژورنال
عنوان ژورنال: Journal of Biosciences
سال: 2002
ISSN: 0250-5991,0973-7138
DOI: 10.1007/bf02703683