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PMID: 7587591 Published · ppublish English Journal Article Review

Mechanisms of DNA expansion.

Chromosoma ·Vol. 104 ·No. 1 ·1995-10-00 ·Pages 2-13

McMurray CT

Abstract

Unstable transmission of repeating segments in genes is now recognized as a new class of mutations causing human disease. Genetic instability observed in disease is termed an "expansion mutation" when the mutation is an increase in the copy number of a repeated unit, commonly a di- or trinucleotide. While the expansion mutation is well characterized in disease, the mechanism by which expansion occurs is not clear. This article focuses on physical properties of expansion at repeating nucleotides that may provide clues to the mechanism. Both biochemical and genetic data indicate that DNA structure is part of the mechanism and the underlying cause for expansion.

MeSH Terms
Base Sequence DNA Replication Gene Conversion Genetic Diseases, Inborn/genetics Humans Microsatellite Repeats Molecular Sequence Data Mutation Nucleic Acid Conformation Recombination, Genetic
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
McMurray C T
Mayo Foundation and Graduate School, Department of Biochemistry and Molecular Biology, Department of Pharmacology, Molecular Neuroscience Program, 200 First Street, SW, Rochester, MN 55905, USA. mcmurray@mayo.edu
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Article Info
Journal
Chromosoma
Abbr.
Chromosoma
ISSN
0009-5915
DOI
10.1007/BF00352220
Email
mcmurray@mayo.edu
Published
1995-10-00
Pages
2-13
Language
English
Region
Austria
NLM ID
2985138R
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00352220 View journal details
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