期刊
NATURE GENETICS
卷 40, 期 11, 页码 1285-1287出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.241
关键词
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资金
- Fondo de Investigacion Sanitaria, Spain [PI050857]
- Consejeria de Salud [PI-0334/2007]
- Junta de Andalucia, Spain
- British Retinitis Pigmentosa Society [GR556]
- Foresight, Dubai
- Foundation Fighting Blindness (USA)
- National Institute of Health Research Biomedical Research Centre for Ophthalmology
- Special Trustees of Moorfields Eye Hospital London
- UK Medical Research Council
- EU-Neurotrain [MEST-CT-2005020235]
- EU-GENORET [LSHG-CT-2005-512036]
- Wellcome Trust
- Medical Research Council [MC_U137761446] Funding Source: researchfish
- MRC [MC_U137761446] Funding Source: UKRI
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.
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