TMCO1 is essential for ovarian follicle development by regulating ER Ca2+ store of granulosa cells

Cell Death Differ. 2018 Sep;25(9):1686-1701. doi: 10.1038/s41418-018-0067-x. Epub 2018 Feb 21.

Abstract

TMCO1 (transmembrane and coiled-coil domains 1) is an endoplasmic reticulum (ER) transmembrane protein that actively prevents Ca2+ stores from overfilling. To characterize its physiological function(s), we generated Tmco1-/- knockout (KO) mice. In addition to the main clinical features of human cerebrofaciothoracic (CFT) dysplasia spectrum, Tmco1-/- females manifest gradual loss of ovarian follicles, impaired ovarian follicle development, and subfertility with a phenotype analogous to the premature ovarian failure (POF) in women. In line with the role of TMCO1 as a Ca2+ load-activated Ca2+ channel, we have detected a supernormal Ca2+ signaling in Tmco1-/- granulosa cells (GCs). Interestingly, although spontaneous Ca2+ oscillation pattern was altered, ER Ca2+ stores of germinal vesicle (GV) stage oocytes and metaphase II (MII) arrested eggs were normal upon Tmco1 ablation. Combined with RNA-sequencing analysis, we also detected increased ER stress-mediated apoptosis and enhanced reactive oxygen species (ROS) level in Tmco1-/- GCs, indicating the dysfunctions of GCs upon TMCO1 deficiency. Taken together, these results reveal that TMCO1 is essential for ovarian follicle development and female fertility by maintaining ER Ca2+ homeostasis of GCs, disruption of which causes ER stress-mediated apoptosis and increased cellular ROS level in GCs and thus leads to impaired ovarian follicle development.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoptosis
  • Calcium / metabolism*
  • Calcium Channels / deficiency
  • Calcium Channels / genetics
  • Calcium Channels / metabolism*
  • Endoplasmic Reticulum / metabolism*
  • Endoplasmic Reticulum Stress
  • Female
  • Granulosa Cells / cytology
  • Granulosa Cells / metabolism
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Oocytes / metabolism
  • Ovarian Follicle / cytology
  • Ovarian Follicle / growth & development*
  • Ovarian Follicle / pathology
  • Primary Ovarian Insufficiency / etiology
  • Primary Ovarian Insufficiency / metabolism
  • Primary Ovarian Insufficiency / veterinary
  • Reactive Oxygen Species / metabolism

Substances

  • Calcium Channels
  • Reactive Oxygen Species
  • TMCO1 protein, mouse
  • Calcium