Article
Biallelic mutations in MOS cause female infertility characterized by human early embryonic arrest and fragmentation.
EMBO molecular medicine - 7 Dec 2021
Zhang Yin-Li, Zheng Wei, Ren Peipei, Hu Huiling, Tong Xiaomei, Zhang Shuo-Ping, Li Xiang, Wang Haichao, Jiang Jun-Chao, Jin Jiamin, Yang Weijie, Cao Lanrui, He Yuanlin, Ma Yerong, Zhang Yingyi, Gu Yifan, Hu Liang, Luo Keli, Gong Fei, Lu Guang-Xiu, Lin Ge, Fan Heng-Yu, Zhang Songying
Abstract excerpt
Early embryonic arrest and fragmentation (EEAF) is a common phenomenon leading to female infertility, but the genetic determinants remain largely unknown. The Moloney sarcoma oncogene (MOS) encodes a serine/threonine kinase that activates the ERK signaling cascade during oocyte maturation in vertebrates. Here, we identified four rare variants of MOS in three infertile female individuals with EEAF that followed a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.