Characteristic amino acid residues in the growth hormone receptor gene on Mus minutoides underlying dwarfism

Sumito Matsuya; Kaoru Fujino; Hiroyuki Imai; Ken Takeshi Kusakabe; Kiyoshi Kano

doi:10.17912/micropub.biology.000955

Characteristic amino acid residues in the growth hormone receptor gene on Mus minutoides underlying dwarfism

MicroPubl Biol. 2023 Sep 11:2023:10.17912/micropub.biology.000955. doi: 10.17912/micropub.biology.000955. eCollection 2023.

Authors

Sumito Matsuya^{1

2}, Kaoru Fujino³, Hiroyuki Imai⁴, Ken Takeshi Kusakabe⁴, Kiyoshi Kano³

Affiliations

¹ Laboratory of Developmental Genetics, The United Graduate School of Veterinary Science, Yamaguchi University, Yamaguchi, Yamaguchi, Japan.
² Laboratory of Veterinary Anatomy, Joint Faculty of Veterinary Medicine , Kagoshima University, Kagoshima, Kagoshima, Japan.
³ Laboratory of Developmental Genetics, Joint Faculty of Veterinary Medicine, Yamaguchi University, Yamaguchi, Yamaguchi, Japan.
⁴ Laboratory of Veterinary Anatomy, Joint Faculty of Veterinary Medicine, Yamaguchi University, Yamaguchi, Yamaguchi, Japan.

Abstract

The African pygmy mouse ( Mus minutoides ) displays a dwarfism phenotype distinctive from closely related species. This study aimed to investigate the growth hormone receptor (Ghr) gene sequence in M. minutoides . We identified several amino acid variations, including the P469L mutation. Our findings suggest that this mutation affects Ghr protein functionality, decreasing Igf1 expression and contributing to the dwarfism observed in M. minutoides . Further studies utilizing genome editing technology are necessary to elucidate the mechanisms involved in mammalian body size determination.

Grants and funding

This study was supported by JSPS KAKENHI Grant Number 21580344. This work was also supported by a grant from the Foundation for Growth Science.