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

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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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This work is supported by a grant from the Ellison Medical Foundation [DCC].

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  1. Department of Nutrition and Food Science, Wayne State University, Detroit, MI, 48201, USA

    Diane C. Cabelof

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Cabelof, D.C. Haploinsufficiency in mouse models of DNA repair deficiency: modifiers of penetrance. Cell. Mol. Life Sci. 69, 727–740 (2012). https://doi.org/10.1007/s00018-011-0839-7

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  • DOI: https://doi.org/10.1007/s00018-011-0839-7

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