Cloning and characterization of WDR17, a novel WD repeat-containing gene on chromosome 4q34

摘要: As part of our project to generate a catalogue genes with potential relevance human retinal disease, we have cloned transcript abundantly expressed in the retina and testis. Analysis deduced 1322 amino acid protein sequence demonstrates that it encodes novel WD repeat protein, termed WDR17. The N-terminal moiety WDR17 is predicted consist at least 12 conserved repeats likely adopts β-propeller-like structure. Homology searches C-terminal region revealed no similarity known or hypothetical proteins. However, putative orthologous ESTs 82–91% identity cDNA were found several mammalian species including rodents, pig cattle, suggesting represents an evolutionarily subtype proteins unique function(s) higher eukaryotes. Temporal expression analysis murine eye showed transcription begins prenatally, functional role early stages development. Human maps same chromosomal interval as locus for autosomal recessive retinitis pigmentosa (RP29) on 4q34, making candidate this disease gene. Sequencing entire coding affected patient original RP29 pedigree has not any disease-causing variations excluding gene underlying RP29.