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EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
- Source :
-
Nature genetics [Nat Genet] 2008 Nov; Vol. 40 (11), pp. 1285-7. Date of Electronic Publication: 2008 Oct 05. - Publication Year :
- 2008
-
Abstract
- Using a positional cloning approach supported by comparative genomics, we have identified a previously unreported gene, EYS, at the RP25 locus on chromosome 6q12 commonly mutated in autosomal recessive retinitis pigmentosa. Spanning over 2 Mb, this is the largest eye-specific gene identified so far. EYS is independently disrupted in four other mammalian lineages, including that of rodents, but is well conserved from Drosophila to man and is likely to have a role in the modeling of retinal architecture.
- Subjects :
- Animals
Cell Line
Chromosomes, Human, Pair 6 genetics
Eye Proteins chemistry
Eye Proteins metabolism
Gene Expression Profiling
Gene Expression Regulation
Humans
Protein Structure, Tertiary
Protein Transport
Drosophila Proteins chemistry
Drosophila melanogaster chemistry
Eye Proteins genetics
Genes, Recessive
Mutation genetics
Retinitis Pigmentosa genetics
Sequence Homology, Amino Acid
Subjects
Details
- Language :
- English
- ISSN :
- 1546-1718
- Volume :
- 40
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 18836446
- Full Text :
- https://doi.org/10.1038/ng.241