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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.

Authors :
Abd El-Aziz MM
Barragan I
O'Driscoll CA
Goodstadt L
Prigmore E
Borrego S
Mena M
Pieras JI
El-Ashry MF
Safieh LA
Shah A
Cheetham ME
Carter NP
Chakarova C
Ponting CP
Bhattacharya SS
Antinolo G
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.

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