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Título

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

AutorAbd El-Aziz, Mai M.; Barragán, Isabel; O'Driscoll, Ciara A.; Goodstadt, Leo; Prigmore, Elena; Borrego, Salud ; Mena, Marcela; Pieras, Juan Ignacio; El-Ashry, Mohamed F.; Abu Safieh, Leen; Shah, Amna; Cheetham, Michael E.; Carter, Nigel P.; Chakarova, Christina; Ponting, Chris P.; Bhattacharya, Shom Shanker ; Antiñolo, Guillermo
Palabras claveRetinitis pigmentosa
EYS
Eye-specific gene
Photoreceptors
Retinal architecture
Fecha de publicación5-oct-2008
EditorNature Publishing Group
CitaciónNature Genetics 40: 1285-1287 (2008)
ResumenUsing 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.
Descripción3 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
Versión del editorhttp://dx.doi.org/10.1038/ng.241
URIhttp://hdl.handle.net/10261/11789
DOI10.1038/ng.241
ISSN1061-4036 (Print)
1546-1718 (Online)
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