Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice
Fig 8
TMEM98 is genetically downstream of MYRF.
(A-B) Taqman qRT-PCR analysis of RPE expressed genes important for nanophthalmos (Myrf, Best1, Mfrp, Tmem98) in Myrf+/fl, RxCre;Myrf+/fl and RxCre;Myrffl/fl eyes at P3 (A) and P22 (B). There is significantly reduced expression of Tmem98 in RxCre;Myrffl/fl compared to wild-type, but comparable levels of expression of Mfrp and Best1. (C) TMEM98 staining in embryonic (E15.5) mouse eyes showing loss of TMEM98 staining in RxCre;Myrffl/fl compared to controls. (D-E) Mouse RPE flat mounts from P7 (D) and P22 (E) eyes showing decreased TMEM98 staining (red) and altered localization in RxCre;Myrffl/fl compared to controls. DAPI (blue) is used to counterstain nuclei. ***, p < 0.001; **, p < 0.01; * p < 0.05.