Document Detail

Expansion of GAA trinucleotide repeats in mammals.
MedLine Citation:
PMID:  16316739     Owner:  NLM     Status:  MEDLINE    
We have previously shown that GAA trinucleotide repeats have undergone significant expansion in the human genome. Here we present the analysis of the length distribution of all 10 nonredundant trinucleotide repeat motifs in 20 complete eukaryotic genomes (6 mammalian, 2 nonmammalian vertebrates, 4 arthropods, 4 fungi, and 1 each of nematode, amoebozoa, alveolate, and plant), which showed that the abundance of large expansions of GAA trinucleotide repeats is specific to mammals. Analysis of human-chimpanzee-gorilla orthologs revealed that loci with large expansions are species-specific and have occurred after divergence from the common ancestor. PCR analysis of human controls revealed large expansions at multiple human (GAA)(30+) loci; nine loci showed expanded alleles containing >65 triplets, analogous to disease-causing expansions in Friedreich ataxia, including two that are in introns of genes of unknown function. The abundance of long GAA trinucleotide repeat tracts in mammalian genomes represents a significant mutation potential and source of interindividual variability.
Rhonda M Clark; Sanjeev S Bhaskar; Masaki Miyahara; Gillian L Dalgliesh; Sanjay I Bidichandani
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.     Date:  2005-11-28
Journal Detail:
Title:  Genomics     Volume:  87     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  2006 Jan 
Date Detail:
Created Date:  2006-01-02     Completed Date:  2006-03-24     Revised Date:  2014-04-01    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  57-67     Citation Subset:  IM    
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MeSH Terms
Friedreich Ataxia / genetics
Genetic Variation*
Genome, Human / genetics*
Introns / genetics*
Sequence Analysis, DNA
Species Specificity
Trinucleotide Repeat Expansion / genetics*
Grant Support

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