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PMID: 21952828 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Haploinsufficiency in mouse models of DNA repair deficiency: modifiers of penetrance.

Cellular and molecular life sciences : CMLS ·Vol. 69 ·No. 5 ·2012-03-00 ·Pages 727-40

Cabelof DC

Abstract

Mouse models of DNA repair deficiency are useful tools for determining susceptibility to disease. Cancer predisposition and premature aging are commonly impacted by deficiencies in DNA repair, presumably as a function of reduced genomic fitness. In this review, a comprehensive analysis of all DNA repair mutant mouse models has been completed in order to assess the importance of haploinsufficiency for these genes. This analysis brings to light a clear role for haploinsufficiency in disease predisposition. Unfortunately, much of the data on heterozygous models are buried or underinvestigated. In light of a better understanding that the role of DNA repair haploinsufficiency may play in penetrance of other oncogenic or disease causing factors, it may be in the interest of human health and disease prevention to further investigate the phenotypes in many of these mouse models.

MeSH Terms
Animals DNA Repair/genetics DNA Repair-Deficiency Disorders/genetics,metabolism,pathology Genetic Predisposition to Disease Haploinsufficiency Humans Models, Animal Penetrance
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Cabelof Diane C
Department of Nutrition and Food Science, Wayne State University, Detroit, MI 48201, USA. [email protected]
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Article Info
Journal
Cellular and molecular life sciences : CMLS
Abbr.
Cell Mol Life Sci
ISSN
1420-9071
DOI
10.1007/s00018-011-0839-7
Email
[email protected]
Published
2012-03-00
Epub
2011-00-28
Pages
727-40
Language
English
Region
Switzerland
NLM ID
9705402
Subset
IM
External Links
PubMed source DOI: 10.1007/s00018-011-0839-7 View journal details
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