Loss-of-function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella.
Yihong YangChuan JiangXueguang ZhangXue LiuJinghong LiXiaoyong QiaoHongqian LiuYing ShenPublished in: Clinical genetics (2020)
Asthenozoospermia is a common cause of male infertility associated with the reduced motility and/or abnormal morphology of spermatozoa, although its etiology remains incompletely understood. Multiple morphological abnormalities of the sperm flagella (MMAF) is one of the main causes of asthenozoospermia. However, the MMAF-associated genes identified to date cannot explain all the human MMAF cases. Herein, a loss-of-function mutation of DNAH8 was identified in an asthenozoospermia patient with MMAF. Moreover, the negative effect of this mutation on DNAH8 expression was confirmed by immunofluorescence staining and western blotting. Remarkably, it is the first time that DNAH8 is suggested to be associated with human MMAF. Our findings provide strong evidence that a loss-of-function mutation in DNAH8 can cause male infertility with MMAF and that DNAH8 is essential for sperm flagellar formation.
Keyphrases
- endothelial cells
- poor prognosis
- induced pluripotent stem cells
- pluripotent stem cells
- metabolic syndrome
- south africa
- polycystic ovary syndrome
- adipose tissue
- skeletal muscle
- genome wide
- transcription factor
- pseudomonas aeruginosa
- staphylococcus aureus
- long non coding rna
- genome wide identification
- bioinformatics analysis
- type iii