Yu Changping, Diao Runjie, Khan Ranjha, Deng Cheng, Ma Hui, Chang Zhijie, Jiang Xiaohua, Shi Qinghua
First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, China.
Jiangsu Key Laboratory for Biodiversity and Biotechnology, College of Life Sciences, Nanjing Normal University, Nanjing, China.
Front Genet. 2021 Jun 25;12:689902. doi: 10.3389/fgene.2021.689902. eCollection 2021.
X-derived retrogenes contribute to genetic diversity in evolution and are usually specifically expressed in testis and perform important functions during spermatogenesis. is an autosomal retrogene with testis-specific expression derived from , an X-linked housekeeping gene. In the current study, we performed phylogenetic analysis and revealed that and are subject to purifying selection and may have conserved functions in evolution. was knocked out in mice using CRISPR/Cas9 genome editing technology and interestingly, we found no alterations in reproductive parameters of male mice. To get insights into whether could compensate the absence of , we further obtained mice that lack both and , and the double knockout (dKO) mice also displayed normal spermatogenesis, showing that and are both dispensable for spermatogenesis. Thus, through the study of UBL4A and UBL4B, we provided a direct evidence for the first time that some X chromosome-derived autosomal retrogenes can be unfunctional in spermatogenesis, which represents an additional evolutionary type of X-derived retrogenes.
X 衍生的反转录基因有助于进化中的遗传多样性,通常在睾丸中特异性表达,并在精子发生过程中发挥重要作用。UBL4B 是一个常染色体反转录基因,具有源自 X 连锁管家基因 UBL4A 的睾丸特异性表达。在本研究中,我们进行了系统发育分析,发现 UBL4A 和 UBL4B 受到纯化选择,并且在进化中可能具有保守功能。我们使用 CRISPR/Cas9 基因组编辑技术在小鼠中敲除了 UBL4B,有趣的是,我们发现 UBL4B 雄性小鼠的生殖参数没有改变。为了深入了解 UBL4A 是否可以补偿 UBL4B 的缺失,我们进一步获得了同时缺乏 UBL4A 和 UBL4B 的双敲除(dKO)小鼠,并且双敲除小鼠也表现出正常的精子发生,表明 UBL4A 和 UBL4B 对精子发生都是可有可无的。因此,通过对 UBL4A 和 UBL4B 的研究,我们首次提供了直接证据,证明一些 X 染色体衍生的常染色体反转录基因在精子发生中可能是无功能的,这代表了 X 衍生反转录基因的另一种进化类型。