EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
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.
Department of Molecular Genetics, Institute of Ophthalmology, London EC1V 9EL, UK.
Mai M
MM
Abd El-Aziz
Isabel
I
Barragan
Ciara A
CA
O'Driscoll
Leo
L
Goodstadt
Elena
E
Prigmore
Salud
S
Borrego
Marcela
M
Mena
Juan I
JI
Pieras
Mohamed F
MF
El-Ashry
Leen Abu
LA
Safieh
Amna
A
Shah
Michael E
ME
Cheetham
Nigel P
NP
Carter
Christina
C
Chakarova
Chris P
CP
Ponting
Shomi S
SS
Bhattacharya
Guillermo
G
Antinolo
D000818:Animals; D002460:Cell Line; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D029721:Drosophila Proteins / Q000737:chemistry*; D004331:Drosophila melanogaster / Q000737:chemistry*; D005136:Eye Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D005808:Genes, Recessive; D006801:Humans; D009154:Mutation / Q000235:genetics*; D017434:Protein Structure, Tertiary; D021381:Protein Transport; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
D029721:Drosophila Proteins; C533105:EYS protein, human; D005136:Eye Proteins; C514625:eys protein, Drosophila