A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Müllerian hormone signaling pathway.

@article{Li2016ADN,
  title={A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-M{\"u}llerian hormone signaling pathway.},
  author={Lin Li and Xueya Zhou and Xi Wang and Jing Wang and Wei Zhang and Binbin Wang and Yun-xia Cao and Kehkooi Kee},
  journal={Molecular human reproduction},
  year={2016},
  volume={22 9},
  pages={669-78}
}
STUDY QUESTION Does a heterozygous mutation in AMHR2, identified in whole-exome sequencings (WES) of patients with primary ovarian insufficiency (POI), cause a defect in anti-Müllerian hormone (AMH) signaling? SUMMARY ANSWER The I209N mutation at the adenosine triphosphate binding domain of AMHR2 exerts dominant negative defects in the AMH signaling pathway. WHAT IS KNOWN ALREADY Previous studies have demonstrated the associations of several sequence variants in AMH or AMHR2 with POI, but… CONTINUE READING