Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

• Published in: American journal of human genetics Vol. 104; no. 4; pp. 738 - 748
• Main Authors: Liu, Wangjie, He, Xiaojin, Yang, Shenmin, Zouari, Raoudha, Wang, Jiaxiong, Wu, Huan, Kherraf, Zine-Eddine, Liu, Chunyu, Coutton, Charles, Zhao, Rui, Tang, Dongdong, Tang, Shuyan, Lv, Mingrong, Fang, Youyan, Li, Weiyu, Li, Hong, Zhao, Jianyuan, Wang, Xue, Zhao, Shimin, Zhang, Jingjing, Arnoult, Christophe, Jin, Li, Zhang, Zhiguo, Ray, Pierre F., Cao, Yunxia, Zhang, Feng
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 04.04.2019; Elsevier
• Subjects: Alleles; Alternative Splicing; Animals; China; CRISPR; CRISPR-Cas Systems; Exome; flagella; Flagella - pathology; Homozygote; Humans; Infertility, Male - genetics; Male; male infertility; Mice; Microtubule-Associated Proteins - genetics; MMAF; Mutation; Phenotype; sequencing; sperm; Sperm Motility; Spermatozoa - abnormalities; TTC21A; Whole Exome Sequencing; China; flagella; CRISPR; MMAF; exome; TTC21A; sperm; male infertility; sequencing

Male infertility is a major concern affecting human reproductive health. Asthenoteratospermia can cause male infertility through reduced motility and abnormal morphology of spermatozoa. Several genes, including DNAH1 and some CFAP family members, are involved in multiple morphological abnormalities...