Programm                 "Degeneration und Regeneration– Grundlagen, Diagnostik und Therapie"

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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
1Zentrum für Augenheilkunde Gießen; 2Institut für Anthropologie und Humangenetik Tübingen

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.
Method: We compared sequence information from mutational analysis in CSNB1 cases with data from phylogenetic analysis of several non-human NYX gene orthologs. Polymerase chain reaction and direct genomic sequencing techniques were used to detect mutations in the 3 NYX exons (DEL) in two unrelated families with CSNB1. Further mutational data were drawn from previously published CSNB1 analyses. Using the same techniques NYX homology analysis was performed using samples from several primate, domestic and rodent species. Statistical and computational analyses were done on DNA and amin

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