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

Lourdes Valdes-Sanchez, Berta De la Cerda*, Francisco J. Diaz-Corrales, Simone Massalini, Christina F. Chakarova, Alan F. Wright, Shomi S. Bhattacharya

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Ataxia-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.

Original languageEnglish
Pages (from-to)1507-1515
Number of pages9
JournalHuman Molecular Genetics
Volume22
Issue number8
DOIs
Publication statusPublished - 15 Apr 2013

Keywords

  • STRESS
  • SECKEL-SYNDROME
  • MICROTUBULE-ASSOCIATED PROTEINS
  • KINESIN
  • REGULATOR
  • RETINA
  • ATAXIA-TELANGIECTASIA
  • RESPONSES
  • DNA-DAMAGE
  • MOUSE MODEL

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