title: Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders.
abstract: More than 100 genes causing inherited retinal diseases have been mapped to chromosomal locations, but less than half of these genes have been cloned. Mutations in many retina/pineal-specific genes are known to cause inherited retinal diseases. Examples include mutations in arrestin, rhodopsin kinase, and the cone-rod homeobox gene, CRX. To identify additional candidate genes for inherited retinal disorders, novel retina/pineal-expressed EST clusters were identified from the TIGR Human Gene Index database and mapped to specific chromosomal sites. After known human gene sequences were excluded, and repeat sequences were masked, 26 novel retina and pineal gland cDNA clusters were identified. The retinal expression of each novel EST cluster was confirmed by PCR assay of a retinal cDNA library, and each cluster was localized in the genome using the GeneBridge 4.0 radiation hybrid panel. In silico expression data from the TIGR database suggest that these EST clusters are retina/pineal-specific or predominantly expressed in these tissues. This combination of database analysis and laboratory investigation has localized several EST clusters that are potential candidates for genes causing inherited retinopathy.
authors.affiliation: School of Public Health, The University of Texas Health Science Center, Houston, Texas 77225-0334, USA.
authors.forename: M M
authors.initials: MM
authors.lastname: Sohocki
authors.forename: K A
authors.initials: KA
authors.lastname: Malone
authors.forename: L S
authors.initials: LS
authors.lastname: Sullivan
authors.forename: S P
authors.initials: SP
authors.lastname: Daiger
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D020224:Expressed Sequence Tags; D005786:Gene Expression Regulation; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D010870:Pineal Gland / Q000378:metabolism*; D012160:Retina / Q000378:metabolism*; D012164:Retinal Diseases / Q000235:genetics; D017422:Sequence Analysis, DNA; D016324:Sequence Tagged Sites
chemical_list: D018076:DNA, Complementary