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两个获得的小鼠 Y 染色体连锁基因,Prssly 和 Teyorf1,对雄性生育力是可有可无的。

Two acquired mouse Y chromosome-linked genes, Prssly and Teyorf1, are dispensable for male fertility‡.

机构信息

Institute for Biogenesis Research, John A. Burns School of Medicine, University of Hawaii, Honolulu, HI, USA.

Graduate School of Agricultural and Life Sciences, University of Tokyo, Tokyo, Japan.

出版信息

Biol Reprod. 2022 Sep 12;107(3):752-764. doi: 10.1093/biolre/ioac084.

Abstract

Prssly (Protease, serine-like, Chr Y) and Teyorf1 (Testis expressed, chromosome Y open reading frame 1) are two acquired single-copy genes located on the distal tip of the non-pairing short arm of the mouse Y chromosome adjacent to telomeric sequence. Both genes lack X chromosome-linked homologues and are expressed in testicular germ cells. We first performed analysis of Prssly and Teyorf1 genomic sequences and demonstrated that previously reported Prssly sequence is erroneous and the true Prssly sequence is longer and encodes a larger protein than previously estimated. We also confirmed that both genes encode pseudogenes that are not expressed in testes. Next, using CRISPR/Cas9 genome targeting, we generated Prssly and Teyorf1 knockout (KO) mice and characterized their phenotype. To create Prssly KO mice, we targeted the conserved exon 5 encoding a trypsin domain typical for serine proteases. The targeting was successful and resulted in a frame shift mutation that introduced a premature stop codon, with the Prssly KO males retaining only residual transcript expression in testes. The Teyorf1 targeting removed the entire open reading frame of the gene, which resulted in no transcript expression in KO males. Both Prssly KO and Teyorf1 KO males were fertile and had normal testis size and normal sperm number, motility, and morphology. Our findings show that Prssly and Teyorf1 transcripts with potential to encode proteins are dispensable for male fertility.

摘要

Prssly(丝氨酸蛋白酶,Chr Y)和 Teyorf1(睾丸表达,染色体 Y 开放阅读框 1)是两个位于小鼠 Y 染色体非配对短臂末端靠近端粒序列的获得性单拷贝基因。这两个基因都缺乏与 X 染色体相连的同源物,并且在睾丸生殖细胞中表达。我们首先对 Prssly 和 Teyorf1 的基因组序列进行了分析,结果表明先前报道的 Prssly 序列是错误的,真正的 Prssly 序列比之前估计的更长,并编码一个更大的蛋白质。我们还证实,这两个基因都编码不出现在睾丸中的假基因。接下来,我们使用 CRISPR/Cas9 基因组靶向技术,生成了 Prssly 和 Teyorf1 敲除(KO)小鼠,并对其表型进行了表征。为了创建 Prssly KO 小鼠,我们针对编码丝氨酸蛋白酶典型的胰蛋白酶结构域的保守外显子 5 进行了靶向。靶向是成功的,导致移码突变,引入了一个过早的终止密码子,Prssly KO 雄性在睾丸中仅保留残留的转录表达。Teyorf1 的靶向消除了该基因的整个开放阅读框,导致 KO 雄性中没有转录表达。Prssly KO 和 Teyorf1 KO 雄性均具有生育能力,睾丸大小正常,精子数量、活力和形态正常。我们的研究结果表明,具有潜在蛋白编码能力的 Prssly 和 Teyorf1 转录本对于雄性生育力是可有可无的。

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