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

doi:10.1016/j.jgg.2018.09.006

Volume 46 Issue 1

Jan. 2019

Turn off MathJax

Article Contents

Article Navigation > Journal of Genetics and Genomics > 2019 > 46(1): 53-56

PDF( 708 KB)

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

doi: 10.1016/j.jgg.2018.09.006

Wangjie Liu^{a, b, c, #},
Huan Wu^{d, e, f, #},
Li Wang^{a, #},
Xiaoyu Yang^g,
Chunyu Liu^a,
Xiaojin He^{d, e, f},
Weiyu Li^a,
Jiajia Wang^{d, e, f},
Yujie Chen^{d, e, f},
Hongyan Wang^a,
Yang Gao^{d, e, f},
Shuyan Tang^a,
Shenmin Yang^h,
Li Jin^a,
Feng Zhang^{a, b, c},
Yunxia Cao^{d, e, f}

a
Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Fudan University, Shanghai, 200011, China
b
Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211116, China
c
Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, 200011, China
d
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China
e
Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, 230022, China
f
Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, 230022, China
g
Clinical Center of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China
h
Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, 215002, China

More Information

Corresponding author: E-mail address: zhangfeng@fudan.edu.cn (Feng Zhang); E-mail address: caoyunxia6@126.com (Yunxia Cao)
Received Date: 2018-05-09
Accepted Date: 2018-09-29
Rev Recd Date: 2018-09-28

Available Online: 2018-12-06

Publish Date: 2019-01-20

Abstract

These authors contributed equally to this work.

FullText(HTML)

References(20)

References

[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