ArticleMammalian genome : official journal of the International Mammalian Genome Society2012
ENU mutagenesis in mice identifies candidate genes for hypogonadism.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- Reproductive genomics of the mouse: implications for human fertility and infertility.Development (Cambridge, England) · 2023Article
- Pathogenic variants of meiotic double strand break (DSB) formation genes PRDM9 and ANKRD31 in premature ovarian insufficiency.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Rat PRDM9 shapes recombination landscapes, duration of meiosis, gametogenesis, and age of fertility.BMC biology · 2021Article
- A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.PLoS genetics · 2019Article
- Histone methyltransferase PRDM9 is not essential for meiosis in male mice.Genome research · 2019Article
- Multimer Formation Explains Allelic Suppression of PRDM9 Recombination Hotspots.PLoS genetics · 2015Article
- Nuclear localization of PRDM9 and its role in meiotic chromatin modifications and homologous synapsis.Chromosoma · 2015Article
- Joint MiRNA/mRNA expression profiling reveals changes consistent with development of dysfunctional corpus luteum after weight gain.PloS one · 2015Article
- The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review.Journal of applied genetics · 2014Review
- Disorders of sex development: new genes, new concepts.Nature reviews. Endocrinology · 2013Review
- Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.American journal of human genetics · 2013Article
- Specificity factors in cytoplasmic polyadenylation.Wiley interdisciplinary reviews. RNAReview
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
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.
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