Document Detail


Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice.
MedLine Citation:
PMID:  12376097     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Fragile X syndrome results from the massive expansion of a CGG repeat in the 5' untranslated region of the gene FMR1. Data suggest that the hyperexpansion properties of FMR1 CGG repeats may depend on flanking cis-acting elements. We have therefore used homologous recombination in yeast to introduce an in situ CGG expansion corresponding to a premutation-sized allele into a human YAC carrying the FMR1 locus. Several transgenic lines were generated that carried repeats of varying lengths and amounts of flanking sequence. Length-dependent instability in the form of small expansions and contractions was observed in both male and female transmissions over five generations. No parent-of-origin effect or somatic instability was observed. Alterations in tract length were found to occur exclusively in the 3' uninterrupted CGG tract. Large expansion events indicative of a transition from a premutation to a full mutation were not observed. Overall, our results indicate both similarities and differences between the behavior of a premutation-sized repeat in mouse and that in human.
Authors:
Andrea M Peier; David L Nelson
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  80     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  2002 Oct 
Date Detail:
Created Date:  2002-10-11     Completed Date:  2003-04-22     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  423-32     Citation Subset:  IM    
Affiliation:
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
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MeSH Terms
Descriptor/Qualifier:
Animals
Chromosomes, Artificial, Yeast*
Disease Models, Animal
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome / genetics*
Male
Mice
Mice, Transgenic
Nerve Tissue Proteins / genetics*
Pedigree
RNA-Binding Proteins*
Trinucleotide Repeats*
Grant Support
ID/Acronym/Agency:
GM52982/GM/NIGMS NIH HHS; HD24064/HD/NICHD NIH HHS; HD29256/HD/NICHD NIH HHS; HD38038/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/Fmr1 protein, mouse; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein

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


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