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PMID: 12857955 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Huntington disease expansion mutations in humans can occur before meiosis is completed.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 100 ·No. 15 ·2003-07-22 ·Pages 8834-8

Yoon SR, Dubeau L, de Young M, Wexler NS, Arnheim N

Abstract

Single-molecule DNA analysis of testicular germ cells isolated by laser capture microdissection from two Huntington disease patients showed that trinucleotide repeat expansion mutations were present before the end of the first meiotic division, and some mutations were present even before meiosis began. Most of the larger Huntington disease mutations were found in the postmeiotic cell population, suggesting that expansions may continue to occur during meiosis and/or after meiosis is complete. Defining the germ-line cell compartments where the trinucleotide repeat expansions occur could help to elucidate the underlying mechanisms of instability.

MeSH Terms
Adult Alleles Germ-Line Mutation Humans Huntington Disease/genetics,pathology Male Meiosis/genetics Middle Aged Minisatellite Repeats Spermatogonia/metabolism,pathology Trinucleotide Repeats
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Yoon Song-Ro
Molecular and Computational Biology Program, University of Southern California, Los Angeles, CA 90089-1340, USA.
Dubeau Louis
de Young Margot
Wexler Nancy S
Arnheim Norman
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.1331390100
Published
2003-07-22
Epub
2003-00-11
Pages
8834-8
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC166399
Subset
IM
External Links
PubMed source DOI: 10.1073/pnas.1331390100 PMC Full Text View journal details
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