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A Cascade of epistatic interactions regulating teratozoospermia in mice

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Abstract

Infertility in humans and subfertility in domestic animals are two major reproductive problems. Among human couples, ~15 % are diagnosed as infertile, and males are considered responsible in about 50 % of the cases. To examine male fertility, various sperm tests including analyses of sperm morphology, sperm count and sperm mobility are usually performed. Teratozoospermia, a condition characterized by the presence of morphologically abnormal sperm, is considered as a symptom of infertility. B10.MOL-TEN1 (TEN1) mice (Mus musculus) show inherited teratozoospermia at high frequencies (~50 %). In this study, the polygenic control of teratozoospermia in the TEN1 strain was analysed. A quantitative trait loci analysis indicated three statistically significant loci, Sperm-head morphology 3 (Shm3; logarithm of the odds (LOD) score, 29.25), Shm4 (LOD score, 6.80), and Shm5 (LOD score, 3.58). These three QTL peaks were mapped to 24.3 centimorgans (cM) on chromosome 1, 32.0 cM on chromosome X, and 63.8 cM on chromosome 6, respectively. Another locus that is yet to be determined was also predicted. Shm3 was found to be the major locus responsible for teratozoospermia, and a sequential cascade of interactions of the other three loci was apparent. These results are expected to help understand the mechanisms underlying reproductive problems in humans or domestic animals.

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Acknowledgments

The authors acknowledge the assistance of Mr. Heiichi Uchiyama with the experiments. We thank Dr. Shiroishi for providing the B10.MOL-TEN1 mouse strain. This work was supported by the Ministry of Agriculture, Forestry, and Fisheries, Japan.

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Authors and Affiliations

  1. Animal Genome Research Unit, Agrogenomics Research Center, National Institute of Agrobiological Sciences, 1-2 Owashi, Tsukuba, Ibaraki, 305-8634, Japan

    Keitaro Hirawatari & Hideo Gotoh

  2. Graduate School of Science and Engineering, Yamagata University, 1-4-12 Kojirakawa, Yamagata, 990-8560, Japan

    Keitaro Hirawatari & Naoto Hanzawa

  3. Technology and Development Team for Mouse Phenotype Analysis, RIKEN BioResource Center, 3-1-1 Koyadai, Tsukuba, Ibaraki, 305-0074, Japan

    Ikuo Miura & Shigeharu Wakana

Authors
  1. Keitaro Hirawatari
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  2. Naoto Hanzawa
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  3. Ikuo Miura
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  4. Shigeharu Wakana
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  5. Hideo Gotoh
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Correspondence to Hideo Gotoh.

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Hirawatari, K., Hanzawa, N., Miura, I. et al. A Cascade of epistatic interactions regulating teratozoospermia in mice. Mamm Genome 26, 248–256 (2015). https://doi.org/10.1007/s00335-015-9566-y

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  • DOI: https://doi.org/10.1007/s00335-015-9566-y

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