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

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

SUBMITTER: Sun Z 

PROVIDER: S-EPMC6143536 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature