NDLI: ENU mutagenesis in mice identifies candidate genes for hypogonadism

Content Provider	Springer Nature Link
Author	Weiss, Jeffrey Hurley, Lisa A. Harris, Rebecca M. Finlayson, Courtney Tong, Minghan Fisher, Lisa A. Moran, Jennifer L. Beier, David R. Mason, Christopher Jameson, J. Larry
Copyright Year	2012
Abstract	Genome-wide mutagenesis was performed in mice to identify candidate genes for male infertility, for which the predominant causes remain idiopathic. Mice were mutagenized using N-ethyl-N-nitrosourea (ENU), bred, and screened for phenotypes associated with the male urogenital system. Fifteen heritable lines were isolated and chromosomal loci were assigned using low-density genome-wide SNP arrays. Ten of the 15 lines were pursued further using higher-resolution SNP analysis to narrow the candidate gene regions. Exon sequencing of candidate genes identified mutations in mice with cystic kidneys (Bicc1), cryptorchidism (Rxfp2), restricted germ cell deficiency (Plk4), and severe germ cell deficiency (Prdm9). In two other lines with severe hypogonadism, candidate sequencing failed to identify mutations, suggesting defects in genes with previously undocumented roles in gonadal function. These genomic intervals were sequenced in their entirety and a candidate mutation was identified in SnrpE in one of the two lines. The line harboring the SnrpE variant retains substantial spermatogenesis despite small testis size, an unusual phenotype. In addition to the reproductive defects, heritable phenotypes were observed in mice with ataxia (Myo5a), tremors (Pmp22), growth retardation (unknown gene), and hydrocephalus (unknown gene). These results demonstrate that the ENU screen is an effective tool for identifying potential causes of male infertility.
Starting Page	346
Ending Page	355
Page Count	10
File Format	PDF
ISSN	09388990
Journal	Mammalian Genome
Volume Number	23
Issue Number	5-6
e-ISSN	14321777
Language	English
Publisher	Springer-Verlag
Publisher Date	2012-01-19
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Anatomy Cell Biology Zoology
Content Type	Text
Resource Type	Article
Subject	Genetics

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