Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella

• Published in: American journal of human genetics Vol. 100; no. 6; pp. 854 - 864
• Main Authors: Tang, Shuyan, Wang, Xiong, Li, Weiyu, Yang, Xiaoyu, Li, Zheng, Liu, Wangjie, Li, Caihua, Zhu, Zijue, Wang, Lingxiang, Wang, Jiaxiong, Zhang, Ling, Sun, Xiaoling, Zhi, Erlei, Wang, Hongyan, Li, Hong, Jin, Li, Luo, Yang, Wang, Jian, Yang, Shenmin, Zhang, Feng
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.06.2017; Elsevier
• Subjects: Alleles; Animals; Base Sequence; CFAP43; CFAP44; CFAP65; CGH; cilia; Cytoskeletal Proteins - genetics; Disease Models, Animal; flagella; Humans; Infertility, Male - genetics; Male; male infertility; Mice, Inbred C57BL; motility; Mutation - genetics; Phenotype; Semen - metabolism; sequencing; sperm; Sperm Tail - pathology; Sperm Tail - ultrastructure; flagella; CGH; motility; cilia; sperm; CFAP43; CFAP65; male infertility; CFAP44; sequencing

Sperm motility is vital to human reproduction. Malformations of sperm flagella can cause male infertility. Men with multiple morphological abnormalities of the flagella (MMAF) have abnormal spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility....