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Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene

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Abstract

The Nakano cataract mouse (NCT) manifests a wavy coat for their first hair as a genetic trait. In this study, we explored the molecular genetic basis of the wavy coat. We revealed by crossing experiments that the wavy coat is controlled by a major gene on chromosome 7 of NCT, homozygosity of which is a prerequisite for developing the wavy coat, and by a gene on chromosome 9 with a minor effect to reinforce the manifestation of the trait. In humans, a polymorphism of the protease, serine 53 (PRSS53) gene on the homologous chromosome is known to be associated with curly scalp hair. We then investigated the Prss53 gene and discovered that NCT has an insertion of an intracisternal A particle element in the first intron of the gene. Nevertheless, the expression of the Prss53 is not altered in the NCT skin both in transcript and protein levels. Subsequently, we created C57BL/6J-Prss53em1 knockout mice and found that these mice manifest vague wavy coats. A portion of backcross and intercross mice between the C57BL/6J-Prss53em1 and NCT manifested intense or vague wavy coats. These findings demonstrate the polygenic nature of the wavy coat of NCT and Prss53 knockout mice and highlight the similarity of the trait to the curly hair of humans associated with the PRSS53 alteration.

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Data availability

The NCT mouse is available from the Laboratory Animal Resource Bank, National Institutes of Biomedical Innovation, Health and Nutrition, Japan. The materials used and datasets analyzed in the current study are available from the corresponding author on reasonable request.

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Acknowledgements

We thank the Laboratory Animal Resource Bank, National Institute of Biomedical Innovation, Health and Nutrition, Japan, for providing the NCT mouse. This work was supported in part by Grants-in-Aid for Scientific Research (C) 19K06455 from the Ministry of Education, Culture, Sports, Science and Technology, Japan.

Funding

This work was supported in part by Grants-in-Aid for Scientific Research (C) 19K06455 from the Ministry of Education, Culture, Sports, Science and Technology, Japan.

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Authors and Affiliations

  1. Department of NeuroHealth Innovation, Institute for Biomedical Sciences, Interdisciplinary Cluster for Cutting Edge Research, Shinshu University, Matsumoto, 390-8621, Japan

    Masayuki Mori, Hiroki Miyahara, Jian Dai & Keiichi Higuchi

  2. Department of Aging Biology, Shinshu University Graduate School of Medicine, Science and Technology, Matsumoto, 390-8621, Japan

    Masayuki Mori, Chang Liu, Ying Li, Xiaojing Kang & Keiichi Higuchi

  3. Department of Aging Biology, Institute of Pathogenesis and Disease Prevention, Shinshu University Graduate School of Medicine, Matsumoto, 390-8621, Japan

    Masayuki Mori, Yuichi Igarashi, Xiaoran Cui & Keiichi Higuchi

  4. Division of Animal Research, Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, 390-8621, Japan

    Takahiro Yoshizawa

Authors
  1. Masayuki Mori
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  2. Chang Liu
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  3. Takahiro Yoshizawa
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  4. Hiroki Miyahara
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  5. Jian Dai
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  7. Xiaoran Cui
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  8. Ying Li
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  9. Xiaojing Kang
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  10. Keiichi Higuchi
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Contributions

MM: conceptualization, funding acquisition, project administration, investigation, data curation, visualization, writing-review and editing, CL: investigation, visualization, writing-review and editing, TY: investigation, resources, HM: investigation, JD: investigation, YI: investigation, XC: investigation, YL: investigation, XK: investigation, KH: supervision, writing-review and editing.

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Correspondence to Masayuki Mori.

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All experimental procedures involving mice were conducted in accordance with the Regulations for Animal Experimentation of Shinshu University and were consistent with the National Institute of Health guide for the care and use of laboratory animals. The animal protocol was approved by the Committee for Animal Experiments of Shinshu University (Approval Number 019096).

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Mori, M., Liu, C., Yoshizawa, T. et al. Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene. Mamm Genome 33, 451–464 (2022). https://doi.org/10.1007/s00335-021-09926-9

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  • DOI: https://doi.org/10.1007/s00335-021-09926-9

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