Biochemical and Biophysical Research Communications, Vol.293, No.1, 356-365, 2002
Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14
We have identified a novel human gene. chromosome 6 open readingframe 37 (C6or 37). that is expressed in the retina and maps to human chromosome 6q14. a genomic region that harbors multiple retinal disease loci. The cDNA sequence contains an open reading frame of 1314 bp that encodes a 437-amino acid protein with a predicted molecular mass of 49.2 kDa. Northern blot analysis indicates that this gene is widely expressed, with preferential expression observed in the retina compared to other ocular tissues. The C6orf`37 protein shares homology with putative proteins in R. norvegicus. M. musculus, D. melanogaster. and C. elegans. suggesting evolutionary conservation of function. Additional sequence analysis predicts that the C6orf37 gene product is a soluble, globular cytoplasmic protein containing several conserved phosphorylation sites. Furthermore. we have defined the genomic structure of this gene. which will enable its analysis as a candidate gene for chromosome 6q-associated inherited retinal disorders. (C) 2002 Elsevier Science (USA). All rights reserved.
Keywords:chromosome 6q14;retinal degeneration;retinal gene;fovea;developmental regulation;conserved gene;fetal tissue;brain transcript