Haploinsufficiency in mouse models of DNA repair deficiency: modifiers of penetrance |
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Authors: | Email author" target="_blank">Diane?C?CabelofEmail author |
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Institution: | (1) Department of Nutrition and Food Science, Wayne State University, Detroit, MI 48201, USA |
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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. |
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Keywords: | |
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