Cited by 15Genetic Mapping and Diversity in Plants and AnimalsGenetic and phenotypic traits in livestockSperm and Testicular Function

Genome-wide association for testis weight in the diversity outbred mouse population

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Yuan, Joshua T., Gatti, Daniel M., Philip, Vivek M., Kasparek, Steven, Kreuzman, Andrew M., Mansky, Benjamin, Sharif, Kayvon, Taterra, Dominik +6 more·2018·Mammalian Genome

Abstract

Testis weight is a genetically mediated trait associated with reproductive efficiency across numerous species. We sought to evaluate the genetically diverse, highly recombinant Diversity Outbred (DO) mouse population as a tool to identify and map quantitative trait loci (QTLs) associated with testis weight. Testis weights were recorded for 502 male DO mice and the mice were genotyped on the GIGAMuga array at ~ 143,000 SNPs. We performed a genome-wide association analysis and identified one significant and two suggestive QTLs associated with testis weight. Using bioinformatic approaches, we developed a list of candidate genes and identified those with known roles in testicular size and development. Candidates of particular interest include the RNA demethylase gene Alkbh5, the cyclin-dependent kinase inhibitor gene Cdkn2c, the dynein axonemal heavy chain gene Dnah11, the phospholipase D gene Pld6, the trans-acting transcription factor gene Sp4, and the spermatogenesis-associated gene Spata6, each of which has a human ortholog. Our results demonstrate the utility of DO mice in high-resolution genetic mapping of complex traits, enabling us to identify developmentally important genes in adult mice. Understanding how genetic variation in these genes influence testis weight could aid in the understanding of mechanisms of mammalian reproductive function.

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Authors
Yuan, J. T., Gatti, D. M., Philip, V. M., Kasparek, S., Kreuzman, A. M., Mansky, B., Sharif, K., Taterra, D., Taylor, W. M., Thomas, M., Ward, J. O., Holmes, A., Chesler, E. J., & Parker, C. C.
Affiliations
  • Middlebury College (US)
  • Jackson Laboratory (US)
  • National Institutes of Health (US)
Corresponding author
Parker, Clarissa C.
Venue
Mammalian Genome
Published
2018-04-24
Volume
29
Issue
5-6
Pages
310-324
ISSN
  • 0938-8990 (ISSN-L)
  • 1432-1777
OpenAlex
W2801659070
Cited by
15
References
5
Citations by year
2026: 2 · 2024: 1 · 2023: 4 · 2022: 2 · 2021: 3 · 2020: 2 · 2019: 1
FWCI
0.92
Type
journal article
Language
en
Open access
Locations
  • Mammalian Genome (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
Funders
National Institute of General Medical Sciences (P20-GM-103449)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
  • Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
Keywords
testicular weight, Diversity Outbred mice, quantitative trait loci, genome-wide association study, candidate genes, testicular development, reproductive performance, ALKBH5, CDKN2C, DNAH11, Sp4, spermatogenesis, gene mapping
MeSH terms
Animals, Chromosome Mapping, Genetics, Population, Genotype, Genetic Linkage, Male, Organ Size, Phenotype, Testis, Genetic Variation, Computational Biology, Animals, Outbred Strains, Quantitative Trait Loci, Mice, Genome-Wide Association Study

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