Figure 3
From: NHE8 Is Essential for RPE Cell Polarity and Photoreceptor Survival
Identification of the causative gene, Slc9a8, for the r15 mutation.
(a) Linkage analysis of the r15 mutation was based on the phenotypes and genotypes of 177 meioses. The mutation was mapped to a 6 Mb region between markers D2Mit51 and D2Mit229 on mouse chromosome 2. Positions of the markers are based on the Ensembl Mouse Genome Server. (b) DNA sequencing data revealed a missense (T to A) mutation of the Slc9a8 gene, resulting in a substitution of methionine (M) by lysine (K) at the 120th amino acid of the NHE8 protein in the r15 mutation. (c) Wild-type NHE8 protein was predicted to form 11 transmembrane helices by the program TMHMM (v. 1.0) (http://www.cbs.dtu.dk/). (d) NHE8-M120K mutant protein decreased the probability of forming the 3rd transmembrane helix containing residue 120.
