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Loss‐of‐function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella
Author(s) -
Yang Yihong,
Jiang Chuan,
Zhang Xueguang,
Liu Xue,
Li Jinghong,
Qiao Xiaoyong,
Liu Hongqian,
Shen Ying
Publication year - 2020
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13815
Subject(s) - asthenozoospermia , flagellum , sperm , male infertility , biology , sperm motility , motility , mutation , infertility , blot , immunofluorescence , genetics , gene , antibody , pregnancy
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.