The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification.

ABSTRACT: The precise control of eye size is essential for normal vision. TMEM98 is a highly conserved and widely expressed gene which appears to be involved in eye size regulation. Mutations in human TMEM98 are found in patients with nanophthalmos (very small eyes) and variants near the gene are associated in population studies with myopia and increased eye size. As complete loss of function mutations in mouse Tmem98 result in perinatal lethality, we produced mice deficient for Tmem98 in the retinal pigment epithelium (RPE), where Tmem98 is highly expressed. These mice have greatly enlarged eyes that are very fragile with very thin retinas, compressed choroid and thin sclera. To gain insight into the mechanism of action we used a proximity labelling approach to discover interacting proteins and ide

SUBMITTER: Cross SH 

PROVIDER: S-EPMC7153906 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature