|Programm||"Degeneration und Regeneration– Grundlagen, Diagnostik und Therapie"|
Analysis of Mutation Spectrum and Phylogenetic Deviation in the NYX Gene and Non-human Orthologs Helps to Establish Sequence-to-function Relationship
Jacobi F.1, Pusch C. M.2
Purpose: Mutations in the NYX gene are responsible for the complete form of X-linked congenital stationary night blindness (CSNB1), a rare retinal disorder with electroretinographic features that indicate an inner retinal transmission defect. The NYX gene product, nyctalopin, is a new member of the heterogeneous protein family of small leucine-rich proteoglycans (SLRP) whose structural motif is a tandem array of a degenerate sequence pattern with nine amino acid residues, mostly leucines, in conserved positions (LRR). While knowledge on the putative protein function is scarce, sequence information from mutation and phylogenetic analyses can help to establish a sequence-to-function relationship.