Modeling the complex etiology of holoprosencephaly in mice

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Mingi Hong, Robert S Krauss

Abstract

Holoprosencephaly (HPE) is a common developmental defect caused by failure to define the midline of the forebrain and/or midface. HPE is associated with heterozygous mutations in Nodal and Sonic hedgehog (SHH) pathway components, but clinical presentation is highly variable, and many mutation carriers are unaffected. It is therefore thought that such mutations interact with more common modifiers, genetic and/or environmental, to produce severe patterning defects. Modifiers are difficult to identify, as their effects are context-dependent and occur within the complex genetic and environmental landscapes that characterize human populations. This has made a full understanding of HPE etiology challenging. We discuss here the use of mice, a genetically tractable model sensitive to teratogens, as a system to address this challenge. Mice carrying mutations in human HPE genes often display wide variations in phenotypic penetrance and expressivity when placed on different genetic backgrounds, demonstrating the existence of silent HPE modifier genes. Studies with mouse lines carrying SHH pathway mutations on appropriate genetic backgrounds have led to identification of both genetic and environmental modifiers that synergize with the muta...Continue Reading

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Citations

Apr 18, 2019·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Yevgenya Grinblat, Robert J Lipinski
Jul 19, 2020·Development·Tyler G Beames, Robert J Lipinski
Jun 20, 2020·Brain Structure & Function·Anne Marie WellsHelen Barbas
Oct 29, 2020·Birth Defects Research·Yonit A AddissiePaul Kruszka
Oct 17, 2020·Development·Martha L Echevarría-Andino, Benjamin L Allen
May 26, 2021·PLoS Genetics·Mary E SwartzJohann K Eberhart

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