Document Detail


Length of uninterrupted CGG repeats determines instability in the FMR1 gene.
MedLine Citation:
PMID:  7987398     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Analysis of 84 human X chromosomes for the presence of interrupting AGG trinucleotides within the CGG repeat tract of the FMR1 gene revealed that most alleles possess two interspersed AGGs and that the longest tract of uninterrupted CGG repeats is usually found at the 3' end. Variation in the length of the repeat appears polar. Alleles containing between 34 and 55 repeats, with documented unstable transmissions, were shown to have lost one or both AGG interruptions. These comparisons define an instability threshold of 34-38 uninterrupted CGG repeats. Analysis of premutation alleles in Fragile X syndrome carriers reveals that 70% of these alleles contain a single AGG interruption. These data suggest that the loss of an AGG is an important mutational event in the generation of unstable alleles predisposed to the Fragile X syndrome.
Authors:
E E Eichler; J J Holden; B W Popovich; A L Reiss; K Snow; S N Thibodeau; C S Richards; P A Ward; D L Nelson
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  8     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1994 Sep 
Date Detail:
Created Date:  1995-01-06     Completed Date:  1995-01-06     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  88-94     Citation Subset:  IM    
Affiliation:
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/S74494
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
DNA
Fragile X Mental Retardation Protein
Humans
Male
Models, Genetic
Molecular Sequence Data
Mutation
Nerve Tissue Proteins / genetics*
RNA-Binding Proteins*
Repetitive Sequences, Nucleic Acid
X Chromosome*
Grant Support
ID/Acronym/Agency:
HD29256/HD/NICHD NIH HHS; MH01142/MH/NIMH NIH HHS; MH50047/MH/NIMH NIH HHS
Chemical
Reg. No./Substance:
0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/Okazaki fragments; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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