Identification and characterization of dystrophin-locus-derived testis-specific protein: a testis-specific gene within the intronic region of the rat dystrophin gene

IF 1.9 4区生物学 Q2 AGRICULTURE, DAIRY & ANIMAL SCIENCE

Journal of Reproduction and Development Pub Date : 2024-01-19 DOI:10.1262/jrd.2023-073

Keitaro YAMANOUCHI, Shizuka KATO, Yukie TANAKA, Masanari IKEDA, Yukina OSHIMO, Takanori SHIGA, Kei HATAMOTO, James CHAMBERS, Takuya IMAMURA, Ryuji HIRAMATSU, Kazuyuki UCHIDA, Fuko MATSUDA, Takashi MATSUWAKI, Tetsuya KOHSAKA

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Abstract

The mammalian X chromosome exhibits enrichment in genes associated with germ cell development. Previously, we generated a rat model of Becker muscular dystrophy (BMD) characterized by an in-frame mutation in the dystrophin gene, situated on the X chromosome and responsible for encoding a protein crucial for muscle integrity. Male BMD rats are infertile owing to the absence of normal spermatids in the epididymis. Within the seminiferous tubules of BMD rats, elongated spermatids displayed abnormal morphology. To elucidate the cause of infertility, we identified a putative gene containing an open reading frame situated in the intronic region between exons 6 and 7 of the dystrophin gene, specifically deleted in male BMD rats. This identified gene, along with its encoded protein, exhibited specific detection within the testes, exclusively localized in round to elongated spermatids during spermiogenesis. Consequently, we designated the encoded protein as dystrophin-locus-derived testis-specific protein (DTSP). Given the absence of DTSP in the testes of BMD rats, we hypothesized that the loss of DTSP contributes to the infertility observed in male BMD rats.

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睾丸特异性蛋白的鉴定和表征：大鼠睾丸营养不良蛋白基因内含子区的睾丸特异性基因

哺乳动物的 X 染色体富含与生殖细胞发育相关的基因。在此之前，我们生成了一种贝克尔肌肉萎缩症（BMD）大鼠模型，其特征是位于X染色体上的肌营养蛋白基因发生了框架内突变，该基因负责编码一种对肌肉完整性至关重要的蛋白质。雄性 BMD 大鼠不育的原因是附睾中缺乏正常精子。在 BMD 大鼠的曲细精管内，拉长的精子显示出异常形态。为了阐明不育的原因，我们确定了一个推测基因，该基因包含一个开放阅读框，位于淀粉样蛋白基因外显子 6 和 7 之间的内含子区域，在雄性 BMD 大鼠中被特别删除。该基因及其编码的蛋白质在睾丸中表现出特异性，在精子发生过程中专门定位于圆形精子和长形精子。因此，我们将编码蛋白命名为睾丸特异性淀粉样蛋白（DTSP）。鉴于 BMD 大鼠的睾丸中缺乏 DTSP，我们假设 DTSP 的缺失是导致雄性 BMD 大鼠不育的原因之一。

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来源期刊

Journal of Reproduction and Development 生物-奶制品与动物科学

CiteScore

3.70

自引率

11.10%

发文量

审稿时长

2 months

期刊介绍： Journal of Reproduction and Development (JRD) is the official journal of the Society for Reproduction and Development, published bimonthly, and welcomes original articles. JRD provides free full-text access of all the published articles on the web. The functions of the journal are managed by Editorial Board Members, such as the Editor-in-Chief, Co-Editor-inChief, Managing Editors and Editors. All manuscripts are peer-reviewed critically by two or more reviewers. Acceptance is based on scientific content and presentation of the materials. The Editors select reviewers and correspond with authors. Final decisions about acceptance or rejection of manuscripts are made by the Editor-in-Chief and Co-Editor-in-Chief.