| Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models |
| Liu, CY; Si, W; Tu, CF; Tian, SX; He, XJ; Wang, SN; Yang, XY; Yao, CC; Li, C; Kherraf, ZE; Ye, MS; Zhou, ZX; Ma, YH; Gao, Y; Li, Y; Liu, QW; Tang, SY; Wang, JX; Saiyin, HXG; Zhao, LY; Yang, LQ; Meng, LL; Chen, BB; Tang, DD; Zhou, YL; Wu, H; Lv, MR; Tan, C; Lin, G; Kong, QP; Shi, H; Su, ZX; Li, Z; Yao, YG ; Jin, L; Zheng, P; Ray, PF; Tan, YQ; Cao, YX; Zhang, F
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| 2023
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| 发表期刊 | AMERICAN JOURNAL OF HUMAN GENETICS
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| ISSN | 0002-9297
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| 卷号 | 110期号:3页码:515-530 |
| 摘要 | Primate-specific genes (PSGs) tend to be expressed in the brain and testis. This phenomenon is consistent with brain evolution in pri-mates but is seemingly contradictory to the similarity of spermatogenesis among mammals. Here, using whole-exome sequencing, we identified deleterious variants of X-linked SSX1 in six unrelated men with asthenoteratozoospermia. SSX1 is a PSG expressed predom-inantly in the testis, and the SSX family evolutionarily expanded independently in rodents and primates. As the mouse model could not be used for studying SSX1, we used a non-human primate model and tree shrews, which are phylogenetically similar to primates, to knock down (KD) Ssx1 expression in the testes. Consistent with the phenotype observed in humans, both Ssx1-KD models exhibited a reduced sperm motility and abnormal sperm morphology. Further, RNA sequencing indicated that Ssx1 deficiency influenced multiple biological processes during spermatogenesis. Collectively, our experimental observations in humans and cynomolgus monkey and tree shrew models highlight the crucial role of SSX1 in spermatogenesis. Notably, three of the five couples who underwent intra-cytoplasmic sperm injection treatment achieved a successful pregnancy. This study provides important guidance for genetic counseling and clinical diagnosis and, significantly, describes the approaches for elucidating the functions of testis-enriched PSGs in spermatogenesis. |
| 收录类别 | SCI
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| 语种 | 英语
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| 文献类型 | 期刊论文
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| 条目标识符 | http://ir.kiz.ac.cn/handle/152453/14027
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| 专题 | 科研部门_疾病机理遗传学和进化医学学科组（姚永刚）
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推荐引用方式
GB/T 7714 |
Liu, CY,Si, W,Tu, CF,et al. Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models[J]. AMERICAN JOURNAL OF HUMAN GENETICS,2023,110(3):515-530.
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| APA |
Liu, CY.,Si, W.,Tu, CF.,Tian, SX.,He, XJ.,...&Zhang, F.(2023).Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models.AMERICAN JOURNAL OF HUMAN GENETICS,110(3),515-530.
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| MLA |
Liu, CY,et al."Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models".AMERICAN JOURNAL OF HUMAN GENETICS 110.3(2023):515-530.
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