Document Detail

Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats.
MedLine Citation:
PMID:  9132496     Owner:  NLM     Status:  MEDLINE    
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is a neurodegenerative disorder which is associated with a CAG repeat expansion in the MJD1 gene on chromosome 14q32.1. A recent study reported an excess of transmission of disease chromosomes relative to normal chromosomes from affected fathers, while this phenomenon was not observed in female meioses. These data were compatible with meiotic drive. We investigated the transmission of alleles with larger versus smaller CAG repeat numbers in the MJD1 gene in normal heterozygotes from the 40 CEPH families. Our data suggest that there was no segregation distortion in male meioses, while the smaller CAG allele was inherited in 57% of female meioses (p < 0.016). The pattern of inheritance of smaller versus larger CAG alleles at this locus was significantly different when male and female meioses were compared (p = 0.0139). While previous data suggest that meiotic drive may be a feature of certain human diseases, including the trinucleotide diseases MJD, myotonic dystrophy, and dentatorubral-pallidoluysian atrophy, these data are compatible with meiotic drive also occurring among non-disease associated CAG sizes.
D C Rubinsztein; J Leggo
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  34     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1997 Mar 
Date Detail:
Created Date:  1997-04-30     Completed Date:  1997-04-30     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  234-6     Citation Subset:  IM    
East Anglian Medical Genetics Service, Molecular Genetics Laboratory, Addenbrooke's Hospital, Cambridge, UK.
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MeSH Terms
Gene Frequency
Machado-Joseph Disease / genetics*
Meiosis / genetics
Nerve Tissue Proteins / genetics*
Nuclear Proteins
Repressor Proteins
Trinucleotide Repeats / genetics*
Reg. No./Substance:
0/Nerve Tissue Proteins; 0/Nuclear Proteins; 0/Repressor Proteins; EC 3.4.22.-/ATXN3 protein, human

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