Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genes

Seth Blackshaw, Rebecca E. Fraioli, Takahisa Furukawa, Constance L. Cepko

Research output: Contribution to journalArticle

245 Scopus citations


To identify the full set of genes expressed by mammalian rods, we conducted serial analysis of gene expression (SAGE) by using libraries generated from mature and developing mouse retina. We identified 264 uncharacterized genes that were specific to or highly enriched in rods. Nearly half of all cloned human retinal disease genes are selectively expressed in rod photoreceptors. In silico mapping of the human orthologs of genes identified in our screen revealed that 86 map within intervals containing uncloned retinal disease genes, representing 37 different loci. We expect these data will allow identification of many disease genes, and that this approach may be useful for cloning genes involved in classes of disease where cell type-specific expression of disease genes is observed.

Original languageEnglish (US)
Pages (from-to)579-589
Number of pages11
Issue number5
StatePublished - Nov 30 2001


ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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