Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility.

Chunyu LiuMingrong LvXiao-Jin HeYong ZhuAmir Amiri-YektaWeiyu LiHuan WuZine-Eddine KherrafWangjie LiuJingjing ZhangQing TanShuyan TangYong-Jun ZhuYading ZhongCaihua LiShixiong TianZhiguo ZhangLi JinPierre RayFeng ZhangYunxia Cao

Published in: Journal of medical genetics (2019)

We identified SPEF2 as a novel gene for human MMAF across the populations. Functional analyses suggested that the deficiency of SPEF2 in the mutated subjects could alter the localisation of other axonemal proteins.

Keyphrases

endothelial cells
induced pluripotent stem cells
copy number
pluripotent stem cells
polycystic ovary syndrome
genome wide identification
genetic diversity
transcription factor
metabolic syndrome
wild type