De Fazio, S., Bartonicek, N., Di Giacomo, M., Abreu-Goodger, C., Sankar, A., Funaya, C., Antony, C., Moreira, P.N., Enright, A.J., O'Carroll, D., 2011. The endonuclease activity of Mili fuels piRNA amplification that silences LINE1 elements. Nature 480, 259-263.
|
Gou, L.T., Gao, Y., Kang, J.Y., Wang, X., Chen, H., Hua, M.M., Li, Z., Li, D., Fu, X.D., Shi, H.J., et al., 2021. Reply to Lack of evidence for a role of PIWIL1 variants in human male infertility. Cell 184, 1943-1944.
|
Krausz, C., Riera-Escamilla, A., 2018. Genetics of male infertility. Nat. Rev. Urol. 15, 369-384.
|
Nagirnaja, L., Moerup, N., Nielsen, J.E., Stakaitis, R., Golubickaite, I., Oud, M.S., Winge, S.B., Carvalho, F., Aston, K.I., Khani, F., et al., 2021. Variant PNLDC1, defective piRNA processing, and azoospermia. N. Engl. J. Med. 385, 707-719.
|
Pandey, R.R., Tokuzawa, Y., Yang, Z., Hayashi, E., Ichisaka, T., Kajita, S., Asano, Y., Kunieda, T., Sachidanandam, R., Chuma, S., et al., 2013. Tudor domain containing 12 (TDRD12) is essential for secondary PIWI interacting RNA biogenesis in mice. Proc. Natl. Acad. Sci. U. S. A. 110, 16492-16497.
|
Reuter, M., Chuma, S., Tanaka, T., Franz, T., Stark, A., Pillai, R.S., 2009. Loss of the Mili-interacting Tudor domain-containing protein-1 activates transposons and alters the Mili-associated small RNA profile. Nat. Struct. Mol. Biol. 16, 639-646.
|
Schopp, T., Zoch, A., Berrens, R.V., Auchynnikava, T., Kabayama, Y., Vasiliauskaite, L., Rappsilber, J., Allshire, R.C., O'Carroll, D., 2020. TEX15 is an essential executor of MIWI2-directed transposon DNA methylation and silencing. Nat. Commun. 11, 3739.
|
Shoji, M., Tanaka, T., Hosokawa, M., Reuter, M., Stark, A., Kato, Y., Kondoh, G., Okawa, K., Chujo, T., Suzuki, T., et al., 2009. The TDRD9-MIWI2 complex is essential for piRNA-mediated retrotransposon silencing in the mouse male germline. Dev. Cell 17, 775-787.
|
Tang, D., Li, K., Geng, H., Xu, C., Lv, M., Gao, Y., Wang, G., Yu, H., Shao, Z., Shen, Q., et al., 2022. Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia. Reprod. Biol. Endocrinol. 20, 63.
|
Tao, J., Wang, Q., Mendez-Dorantes, C., Burns, K.H., Chiarle, R., 2022. Frequency and mechanisms of LINE-1 retrotransposon insertions at CRISPR/Cas9 sites. Nat. Commun. 13, 3685.
|
Wang, X., Ramat, A., Simonelig, M., Liu, M.F., 2023. Emerging roles and functional mechanisms of PIWI-interacting RNAs. Nat. Rev. Mol. Cell Biol. 24, 123-141.
|
Wang, X., Tan, Y.Q., Liu, M.F., 2022. Defective piRNA processing and azoospermia. N. Engl. J. Med. 386, 1674-1675.
|
Watanabe, T., Cui, X., Yuan, Z., Qi, H., Lin, H., 2018. MIWI2 targets RNAs transcribed from piRNA-dependent regions to drive DNA methylation in mouse prospermatogonia. EMBO J. 37, e95329.
|
Wei, H., Gao, J., Lin, D.H., Geng, R., Liao, J., Huang, T.Y., Shang, G., Jing, J., Fan, Z.W., Pan, D., et al., 2024. piRNA loading triggers MIWI translocation from the intermitochondrial cement to chromatoid body during mouse spermatogenesis. Nat. Commun. 15, 2343.
|
Yang, Z., Chen, K.M., Pandey, R.R., Homolka, D., Reuter, M., Janeiro, B.K., Sachidanandam, R., Fauvarque, M.O., McCarthy, A.A., Pillai, R.S., 2016. PIWI slicing and EXD1 drive biogenesis of nuclear piRNAs from cytosolic targets of the mouse piRNA pathway. Mol. Cell 61, 138-152.
|
[1] | Damin Yun, Sheng Gao, Xinyao Li, Jie Shi, Lingling Wang, Tiao Bu, Xiwen Yang, Yunhao Wu, Xiaolong Wu, Fei Sun. The testis-specific gene 1700030J22Rik is essential for sperm flagellar function and male fertility in mice[J]. Journal of Genetics and Genomics, 2025, 52(7): 927-941. doi: 10.1016/j.jgg.2024.12.010 |
[2] | Qiao Wei, Wenlu Fan, Hong-Fu Li, Pei-Shan Wang, Man Xu, Hai-Lin Dong, Hao Yu, Jialan Lyu, Wen-Jiao Luo, Dian-Fu Chen, Wanzhong Ge, Zhi-Ying Wu. Biallelic variants in SREBF2 cause autosomal recessive spastic paraplegia[J]. Journal of Genetics and Genomics. doi: 10.1016/j.jgg.2025.01.004 |
[3] | Xin Chen, Ying Chen, Chenlong Li, Run Yang, Yiyuan Chen, Tianyu Zhang, Yaying Zhu, Jing Ma. Identification and functional characterization of pathogenic FOXI3 variants in craniofacial microsomia[J]. Journal of Genetics and Genomics, 2025, 52(5): 706-709. doi: 10.1016/j.jgg.2025.02.010 |
[4] | Wenbin Huang, Shiying Zhang, Jiuxiang Lin, Yi Ding, Nan Jiang, Jieni Zhang, Huaxiang Zhao, Feng Chen. Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts[J]. Journal of Genetics and Genomics, 2024, 51(2): 222-229. doi: 10.1016/j.jgg.2023.03.012 |
[5] | Dapeng Zhou, Huan Wu, Lingbo Wang, Xuemei Wang, Shuyan Tang, Yiling Zhou, Jiaxiong Wang, Bangguo Wu, Jianan Tang, Xuehai Zhou, Shixiong Tian, Shuang Liu, Mingrong Lv, Xiaojin He, Li Jin, Huijuan Shi, Feng Zhang, Yunxia Cao, Chunyu Liu. Deficiency of MFSD6L, an acrosome membrane protein, causes oligoasthenoteratozoospermia in humans and mice[J]. Journal of Genetics and Genomics, 2024, 51(10): 1007-1019. doi: 10.1016/j.jgg.2024.06.008 |
[6] | Shuxia Chen, Yunping Lei, Yajun Yang, Chennan Liu, Lele Kuang, Li Jin, Richard H. Finnell, Xueyan Yang, Hongyan Wang. A mutation in TBXT causes congenital vertebral malformations in humans and mice[J]. Journal of Genetics and Genomics, 2024, 51(4): 433-442. doi: 10.1016/j.jgg.2023.09.009 |
[7] | Xi Yang, Shuting Ren, Jialin Yang, Yuncheng Pan, Zixue Zhou, Qing Chen, Yunzheng Fang, Lingyue Shang, Feng Zhang, Xiaojin Zhang, Yanhua Wu. Rare variants in FANCJ induce premature ovarian insufficiency in humans and mice[J]. Journal of Genetics and Genomics, 2024, 51(2): 252-255. doi: 10.1016/j.jgg.2023.03.013 |
[8] | Shixiong Tian, Ziqi Wang, Liting Liu, Yiling Zhou, Yue Lv, Dongdong Tang, Jiaxiong Wang, Jing Jiang, Huan Wu, Shuyan Tang, Guanxiong Wang, Hao Geng, Fangbiao Tao, Hongbin Liu, Xiaojin He, Feng Zhang, Jinsong Li, Li Jin, Tao Huang, Chunyu Liu, Yunxia Cao. A homozygous frameshift mutation in ADAD2 causes male infertility with spermatogenic impairments[J]. Journal of Genetics and Genomics, 2023, 50(4): 284-288. doi: 10.1016/j.jgg.2022.12.004 |
[9] | Yan Zhang, Xuzhao Huang, Qiaoqiao Xu, Mei Yu, Mingxue Shu, Shiling Shan, Yun Fan, Shiqi Li, Chengzhe Tao, Ying Zhao, Juan Ji, Yufeng Qin, Chuncheng Lu, Yankai Xia, Feng Zhang. Homozygous nonsense variants of KCTD19 cause male infertility in humans and mice[J]. Journal of Genetics and Genomics, 2023, 50(8): 615-619. doi: 10.1016/j.jgg.2023.05.008 |
[10] | Jiaxin Li, Yuqian Wang, Xiaohui Zhu, Yanli Nie, Ying Kuo, Shuo Guan, Jin Huang, Ying Lian, Yangyu Zhao, Rong Li, Yuan Wei, Jie Qiao, Liying Yan. A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis[J]. Journal of Genetics and Genomics, 2020, 47(5): 281-284. doi: 10.1016/j.jgg.2020.03.007 |
[11] | Xiaoning Cheng, Jing-Jing Zhang, De-Li Shi. Loss of Rbm24a causes defective hair cell development in the zebrafish inner ear and neuromasts[J]. Journal of Genetics and Genomics, 2020, 47(7): 403-406. doi: 10.1016/j.jgg.2020.07.002 |
[12] | Dandan Bai, Jin Sun, Yanping Jia, Jiqing Yin, Yalin Zhang, Yanhe Li, Rui Gao, Xiling Du, Kunming Li, Jiaming Lin, Zhifen Tu, Yu Wang, Jiaping Pan, Shanshan Liang, Yi Guo, Jingling Ruan, Xiaochen Kou, Yanhong Zhao, Hong Wang, Cizhong Jiang, Fengchao Wang, Xiaoming Teng, Wenqiang Liu, Shaorong Gao. Genome transfer for the prevention of female infertility caused by maternal gene mutation[J]. Journal of Genetics and Genomics, 2020, 47(6): 311-319. doi: 10.1016/j.jgg.2020.06.002 |
[13] | Ruofeng Tang, Xin Wang, Junxiang Zhou, Fengxia Zhang, Shan Zhao, Qiwen Gan, Liyuan Zhao, Fengyang Wang, Qian Zhang, Jie Zhang, Guodong Wang, Chonglin Yang. Defective arginine metabolism impairs mitochondrial homeostasis in Caenorhabditis elegans[J]. Journal of Genetics and Genomics, 2020, 47(3): 145-156. doi: 10.1016/j.jgg.2020.02.007 |
[14] | Bing Song, Chunyu Liu, Yang Gao, Jordan Lee Marley, Weiyu Li, Xiaoqin Ni, Wangjie Liu, Yujie Chen, Jiajia Wang, Chao Wang, Ping Zhou, Zhaolian Wei, Xiaojin He, Feng Zhang, Yunxia Cao. Novel compound heterozygous variants in dynein axonemal heavy chain 17 cause asthenoteratospermia with sperm flagellar defects[J]. Journal of Genetics and Genomics, 2020, 47(11): 713-717. doi: 10.1016/j.jgg.2020.07.004 |
[15] | Wangjie Liu, Huan Wu, Li Wang, Xiaoyu Yang, Chunyu Liu, Xiaojin He, Weiyu Li, Jiajia Wang, Yujie Chen, Hongyan Wang, Yang Gao, Shuyan Tang, Shenmin Yang, Li Jin, Feng Zhang, Yunxia Cao. Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia[J]. Journal of Genetics and Genomics, 2019, 46(1): 53-56. doi: 10.1016/j.jgg.2018.09.006 |
[16] | Yi-Chun Huang, Henry Moreno, Sarayu Row, Dongyu Jia, Wu-Min Deng. Germline silencing of UASt depends on the piRNA pathway[J]. Journal of Genetics and Genomics, 2018, 45(5): 273-276. doi: 10.1016/j.jgg.2018.04.005 |
[17] | Purushothaman Natarajan, Madasamy Parani. First Complete Genome Sequence of a Probiotic Enterococcus faecium Strain T-110 and Its Comparative Genome Analysis with Pathogenic and Non-pathogenic Enterococcus faecium Genomes[J]. Journal of Genetics and Genomics, 2015, 42(1): 43-46. doi: 10.1016/j.jgg.2014.07.002 |
[18] | Yan Guo, Chung-I Li, Quanhu Sheng, Jeanette F. Winther, Qiuyin Cai, John D. Boice, Yu Shyr. Very Low-Level Heteroplasmy mtDNA Variations Are Inherited in Humans[J]. Journal of Genetics and Genomics, 2013, 40(12): 607-615. doi: 10.1016/j.jgg.2013.10.003 |
[19] | Zheng Li, Christopher J Haines, Yibing Han. “Micro-deletions” of the human Y chromosome and their relationship with male infertility[J]. Journal of Genetics and Genomics, 2008, 35(4): 193-199. doi: 10.1016/S1673-8527(08)60027-2 |
[20] | Yiming Sun, Tao Yang, Zhiheng Xu. The JNK Pathway and Neuronal Migration[J]. Journal of Genetics and Genomics, 2007, 34(11): 957-965. doi: 10.1016/S1673-8527(07)60108-8 |