EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa
| Autor: | Shom Shanker Bhattacharya, Leo Goodstadt, Leen Abu Safieh, Mai M. Abd El-Aziz, Amna Z. Shah, Michael E. Cheetham, Marcela Mena, M. F. El-Ashry, Elena Prigmore, C. O'Driscoll, Juan Ignacio Pieras, Salud Borrego, Nigel P. Carter, Christina Chakarova, Isabel Barragan, Guillermo Antiñolo, Chris P. Ponting |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Photoreceptors
Positional cloning Genes Recessive Locus (genetics) Retinal architecture Biology Article Cell Line EYS Drosophilidae Retinitis pigmentosa Genetics medicine Animals Drosophila Proteins Humans Eye-specific gene Eye Proteins Comparative genomics Autosome Sequence Homology Amino Acid Gene Expression Profiling medicine.disease biology.organism_classification eye diseases Protein Structure Tertiary Protein Transport Drosophila melanogaster Gene Expression Regulation Mutation Chromosomes Human Pair 6 Drosophila Protein |
| Zdroj: | Digital.CSIC. Repositorio Institucional del CSIC instname |
| Popis: | 3 pages, 2 figures, 1 table.-- PMID: 18836446 [PubMed].-- Supporting information (Suppl. Methods, Suppl. Note, Suppl. Figs 1–4, Suppl. Table 1) available at: http://www.nature.com/ng/journal/v40/n11/suppinfo/ng.241_S1.html 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. This study was funded by Fondo de Investigación Sanitaria (PI050857), Spain; Consejería de Salud (PI-0334/2007), Junta de Andalucía, Spain; British Retinitis Pigmentosa Society (grant ref. GR556); Foresight, Dubai; Foundation Fighting Blindness (USA); National Institute of Health Research Biomedical Research Centre for Ophthalmology, The Special Trustees of Moorfields Eye Hospital London; the UK Medical Research Council and EU-Neurotrain (grant ref. MEST-CT-2005-020235); EU-GENORET (grant ref. LSHG-CT-2005-512036). The Centro de Investigación Biomédica en Red de Enfermedades Raras is an initiative of the Instituto de Salud Carlos III. N.P.C. and E.P. were supported by the Wellcome Trust. |
| Databáze: | OpenAIRE |
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