留言板

尊敬的读者、作者、审稿人, 关于本刊的投稿、审稿、编辑和出版的任何问题, 您可以本页添加留言。我们将尽快给您答复。谢谢您的支持!

姓名
邮箱
手机号码
标题
留言内容
验证码

Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia

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

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
Citation: 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

doi: 10.1016/j.jgg.2018.09.006

Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia

More Information
  • These authors contributed equally to this work.
  • [1] Adzhubei, I.A., Schmidt, S., Peshkin, L. et al. A method and server for predicting damaging missense mutations Nat. Methods, 7 (2010),pp. 248-249
    [2] Ashburner, M., Ball, C.A., Blake, J.A. et al. Gene ontology: tool for the unification of biology. The Gene Ontology Consortium Nat. Genet., 25 (2000),pp. 25-29
    [3] Baccetti, B., Collodel, G., Estenoz, M. et al. Gene deletions in an infertile man with sperm fibrous sheath dysplasia Hum. Reprod., 20 (2005),pp. 2790-2794
    [4] Ben Khelifa, M., Coutton, C., Zouari, R. et al. Am. J. Hum. Genet., 94 (2014),pp. 95-104
    [5] Brown, P.R., Miki, K., Harper, D.B. et al. A-kinase anchoring protein 4 binding proteins in the fibrous sheath of the sperm flagellum Biol. Reprod., 68 (2003),pp. 2241-2248
    [6] Chemes, H.E., Brugo, S., Zanchetti, F. et al. Dysplasia of the fibrous sheath: an ultrastructural defect of human spermatozoa associated with sperm immotility and primary sterility Fertil. Steril., 48 (1987),pp. 664-669
    [7] Coutton, C., Escoffier, J., Martinez, G. et al. Teratozoospermia: spotlight on the main genetic actors in the human Hum. Reprod. Update, 21 (2015),pp. 455-485
    [8] Coutton, C., Vargas, A.S., Amiri-Yekta, A. et al. Nat. Commun., 9 (2018),p. 686
    [9] Dong, F.N., Amiri-Yekta, A., Martinez, G. et al. Absence of CFAP69 causes male infertility due to multiple morphological abnormalities of the flagella in human and mouse Am. J. Hum. Genet., 102 (2018),pp. 636-648
    [10] Eddy, E.M., Toshimori, K., O'Brien, D.A. Fibrous sheath of mammalian spermatozoa Microsc. Res. Tech., 61 (2003),pp. 103-115
    [11] Kanehisa, M., Furumichi, M., Tanabe, M. et al. KEGG: new perspectives on genomes, pathways, diseases and drugs Nucleic Acids Res., 45 (2017),pp. D353-D361
    [12] Kumar, P., Henikoff, S., Ng, P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm Nat. Protoc., 4 (2009),pp. 1073-1081
    [13] Lek, M., Karczewski, K.J., Minikel, E.V. et al. Analysis of protein-coding genetic variation in 60,706 humans Nature, 536 (2016),pp. 285-291
    [14] Li, H., Durbin, R. Fast and accurate long-read alignment with Burrows-Wheeler transform Bioinformatics, 26 (2010),pp. 589-595
    [15] Litchfield, K., Summersgill, B., Yost, S. et al. Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours Nat. Commun., 6 (2015),p. 5973
    [16] McKenna, A., Hanna, M., Banks, E. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data Genome Res., 20 (2010),pp. 1297-1303
    [17] Merveille, A.C., Davis, E.E., Becker-Heck, A. et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs Nat. Genet., 43 (2011),pp. 72-78
    [18] Schwarz, J.M., Cooper, D.N., Schuelke, M. et al. MutationTaster 2: mutation prediction for the deep-sequencing age Nat. Methods, 11 (2014),pp. 361-362
    [19] Tang, S., Wang, X., Li, W. et al. Am. J. Hum. Genet., 100 (2017),pp. 854-864
    [20] Wang, K., Li, M., Hakonarson, H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Res., 38 (2010),p. e164
  • 加载中
计量
  • 文章访问数:  111
  • HTML全文浏览量:  40
  • PDF下载量:  2
  • 被引次数: 0
出版历程
  • 收稿日期:  2018-05-09
  • 录用日期:  2018-09-29
  • 修回日期:  2018-09-28
  • 网络出版日期:  2018-12-06
  • 刊出日期:  2019-01-20

目录

    /

    返回文章
    返回