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.
Abd El-Aziz
Mai M
MM
Department of Molecular Genetics, Institute of Ophthalmology, London EC1V 9EL, UK.
Barragan
Isabel
I
O'Driscoll
Ciara A
CA
Goodstadt
Leo
L
Prigmore
Elena
E
Borrego
Salud
S
Mena
Marcela
M
Pieras
Juan I
JI
El-Ashry
Mohamed F
MF
Safieh
Leen Abu
LA
Shah
Amna
A
Cheetham
Michael E
ME
Carter
Nigel P
NP
Chakarova
Christina
C
Ponting
Chris P
CP
Bhattacharya
Shomi S
SS
Antinolo
Guillermo
G
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