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Título

ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice.

AutorValdés-Sánchez, María Lourdes; Cerda, Berta de la ; Díaz-Corrales, Francisco J. ; Massalini, Simone ; Chakarova, Christina; Wright, Alan F.; Bhattacharya, Shom Shanker
Fecha de publicación7-ene-2013
EditorOxford University Press
CitaciónHuman Molecular Genetics 22(8): 1507-1515 (2013)
ResumenAtaxia-telangiectasia and Rad3 (ATR), a sensor of DNA damage, is associated with the regulation and control of cell division. ATR deficit is known to cause Seckel syndrome, characterized by severe proportionate short stature and microcephaly. We used a mouse model for Seckel disease to study the effect of ATR deficit on retinal development and function and we have found a new role for ATR, which is critical for the postnatal development of the photoreceptor (PR) layer in mouse retina. The structural and functional characterization of the ATR(+/s) mouse retinas displayed a specific, severe and early degeneration of rod and cone cells resembling some characteristics of human retinal degenerations. A new localization of ATR in the cilia of PRs and the fact that mutant mice have shorter cilia suggests that the PR degeneration here described results from a ciliary defect.
Versión del editorhttp://dx.doi.org/10.1093/hmg/dds563
URIhttp://hdl.handle.net/10261/123189
DOI10.1093/hmg/dds563
Identificadoresdoi: 10.1093/hmg/dds563
issn: 1460-2083
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