title: Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genes.
abstract: 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.
authors.affiliation: Department of Genetics, Howard Hughes Medical Institute, Harvard Medical School, 200 Longwood Avenue, Boston, MA 02115, USA.
authors.forename: S
authors.initials: S
authors.lastname: Blackshaw
authors.forename: R E
authors.initials: RE
authors.lastname: Fraioli
authors.forename: T
authors.initials: T
authors.lastname: Furukawa
authors.forename: C L
authors.initials: CL
authors.lastname: Cepko
mesh_terms: D000818:Animals; D015152:Blotting, Northern; D020224:Expressed Sequence Tags; D020869:Gene Expression Profiling / Q000379:methods*; D005786:Gene Expression Regulation; D015723:Gene Library; D018398:Homeodomain Proteins / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007031:Hypothalamus / Q000502:physiology; D017403:In Situ Hybridization; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012160:Retina / Q000166:cytology / Q000502:physiology; D012164:Retinal Diseases / Q000235:genetics*; D017948:Retinal Rod Photoreceptor Cells / Q000502:physiology*; D015534:Trans-Activators / Q000235:genetics / Q000378:metabolism
chemical_list: D018398:Homeodomain Proteins; D012333:RNA, Messenger; D015534:Trans-Activators; C109288:cone rod homeobox protein