1. 职称：研究员
2. 学历：博士
3. 研究方向：不育症与罕见病的遗传学机制研究
4. 邮件：shenying01@scu.edu.cn
5. 个人简介
四川大学华西第二医院重大疾病遗传因素研究实验室PI，博士生导师，国家高层次青年人才、四川大学“双百人才”。长期从事特发性不育症及罕见病的致病基因鉴定及其生物学功能研究，针对疾病的遗传病因及其发病机制等关键科学问题，从临床出发，通过构建动物模型，结合高通量测序技术，揭示了新致病基因及其导致重大遗传病的分子机制，为临床诊治提供了新的科学依据。近5年，以通讯作者在PNAS、Science Advances、Nature Communications、Nucleic Acids Research、Advanced Science、Cell Death and Differentiation、Human Reproduction等杂志发表SCI论文57篇。主持多项国家自然科学基金和四川省科技厅重点研发项目。申请国家发明专利5项，编写指南和专家共识4篇，荣获全国妇幼健康科学技术奖等奖项。
6. 学术任职
中华医学会男科学分会青年委员
《中华男科学杂志》编委
中国非公立医疗机构协会男性生殖与性医学专委会常委
中国优生优育协会孕育与生殖专委会委员
中国康复医学会生殖健康专委会委员
四川省干细胞技术与细胞治疗协会儿科分会副会长
四川省性学会男性生殖医学专业委员会副主任委员
四川省胚胎与生殖遗传学会常务理事
7. 代表性论文
1) Zhao S, Shen G, Ruan T, et al. and Shen Y*. ASB9 promotes ubiquitin-mediated degradation of TNP2 to facilitate histone-to-protamine transition in humans and mice. PNAS, 2026, 123 (14): e2522270123.
2) Zhang X, Zheng R, Liang C, et al. and Shen Y*. Loss-of-function mutations in CEP78 cause male infertility in humans and mice. Science Advances, 2022, 8(40): eabn0968.
3) Shen Y, Zhang F, Li F, et al. Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella. Nature Communications, 2019, 10(1): 433.
4) Zhang X, Wang L, Ma Y, et al. and Shen Y*. CEP128 is involved in spermatogenesis in humans and mice. Nature Communications, 2022, 13(1): 1395.
5) Ruan T, Ma J, Shen G, et al. and Shen Y*. A novel dual histone mark reader ZCWPW2 regulates meiotic recombination through lactylation and transcriptional regulation in humans and mice. Nucleic Acids Research, 2026, 54(3): gkag049.
6) Liu M, Wang L, Li Y, et al. and Shen Y*. HSF5 deficiency causes male infertility involving spermatogenic arrest at meiotic prophase I in humans and mice. Advanced Science, 2024, 11(33):e2402412.
7) Zhang G, Jiang C, Yang Y, et al. and Shen Y*. Deficiency of cancer/testis antigen gene CT55 causes male infertility in humans and mice. Cell Death and Differentiation, 2023, 30(2): 500-514.
8) Zhang X, Yang Y, Zhang H, et al. and Shen Y*. A rare complex rearrangement in the β-globin gene cluster causing a novel homozygous G γ (A γδβ) 0-thalassemia. American Journal of Hematology, 2021, 96(6): E189-E193.
9) Yang X, Li D, Yang Y, et al. and Shen Y*. Biallelic DNAH11 Variations Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagellum in Humans. MedComm, 2025, 6(5): e70210.
10) Ruan T, Wang X, Zhang X, et al. and Shen Y*. Furin‐Mediated Cleavage of Zona Pellucida Proteins Is Essential for Oocyte Development. MedComm, 2025, 6(12): e70542.
11) Ruan T, Lin T, Wang L, et al. and Shen Y*. Sequencing the CCDC146 gene in a large cohort of infertile Chinese men reveals novel mutations in patients with asthenoteratozoospermia. Chinese Medical Journal, 2026: 10.1097.
12) Ruan T, Zhou R, Yang Y, et al. and Shen Y*. Deficiency of IQCH causes male infertility in humans and mice. eLife, 2024, 12:RP88905.
13) Jin H J, Ruan T, Dai S, et al. and Shen Y*, Chen S*. Identification of CFAP52 as a novel diagnostic target of male infertility with defects of sperm head-tail connection and flagella development. eLife, 2023, 12:RP92769.
14) Wang X, Shen G, Yang Y, et al. and Shen Y*. DNAH3 deficiency causes flagellar inner dynein arm loss and male infertility in humans and mice. eLife, 2024, 13:RP96755.
15) Wang X, Shen G, Li J, et al. and Shen Y*. DNAH14 deficiency disrupts sperm annulus positioning and compromises offspring postnatal development. Human Reproduction, 2026, 13: deag014.
16) Li Y, Wang Y, Wen Y, et al. and Shen Y*. Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects. Human Reproduction, 2022, 37(1): 152-177.
17) Shen Y, Guo J, Zhang X, et al. Identification of a heterozygous variant of ZP2 as a novel cause of empty follicle syndrome in humans and mice. Human Reproduction, 2022, 37(4): 859-872.
18) Hu T, Tang X, Ruan T, et al. and Shen Y*, Lin T*. IQUB mutation induces radial spoke 1 deficiency causing asthenozoospermia with normal sperm morphology in humans and mice. Cell Communication and Signaling, 2025, 23(1):41.
