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Genetic dissection of testis weight in mice: quantitative trait locus analysis using F2 intercrosses between strains with extreme testis weight, and association study using Y-consomic strains

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Abstract

In the present study, dissection of genetic bases of testis weight in mice was performed. Autosomes and the X chromosome were searched using traditional quantitative trait locus (QTL) scans, and the Y chromosome was searched by association studies of Y-consomic strains. QTL analysis was performed in ♀DDD × ♂CBA F2 mice; the inbred mouse DDD has the heaviest testes, whereas the inbred mouse CBA has the lightest testes. Two significant testis weight QTLs were identified on chromosomes 1 and X. A DDD allele was associated with increased and decreased testis weight at the locus on chromosomes 1 and X, respectively. In the reciprocal cross ♀CBA × ♂DDD F2 mice, QTL on chromosome 1, and not on chromosome X, had a significant effect on testis weight. The DDD allele at the X-linked locus could not sustain testis weight in combination with the Y chromosome of the CBA strain. The Y chromosome per se had a significant effect on testis weight, i.e., DH-Chr YDDD had significantly heavier testes than DH-Chr YCBA. On the basis of the results of Y-chromosome-wide association studies using 17 Y-consomic strains, variations in Uty, Usp9y, and Sry were significantly associated with testis weight. Thus, testis weight is a complex quantitative phenotype controlled by multiple genes on autosomes and sex chromosomes and their interactions.

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Acknowledgments

This work was supported by Grants-in-Aid for Scientific Research from the Japan Society for the Promotion of Science (Nos. 15500305 and 19500373).

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  1. National Institute of Agrobiological Sciences, Tsukuba, Ibaraki, 305-8634, Japan

    Jun-ichi Suto

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  1. Jun-ichi Suto
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Correspondence to Jun-ichi Suto.

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Suto, Ji. Genetic dissection of testis weight in mice: quantitative trait locus analysis using F2 intercrosses between strains with extreme testis weight, and association study using Y-consomic strains. Mamm Genome 22, 648–660 (2011). https://doi.org/10.1007/s00335-011-9353-3

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  • DOI: https://doi.org/10.1007/s00335-011-9353-3

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