May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Characterization of Retinal Development in Aipl1 Deficient Mice
Author Affiliations & Notes
  • M.M. Sohocki
    Departments of Ophthalmology and Pathology, Columbia University, New York, NY
  • S.L. Donovan
    Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN
  • J. Zhang
    Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN
  • J.K. Gray
    Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN
  • A. Ortiz
    Departments of Ophthalmology and Pathology, Columbia University, New York, NY
  • R. Tenney
    Departments of Ophthalmology and Pathology, Columbia University, New York, NY
  • S. Salari
    Departments of Ophthalmology and Pathology, Columbia University, New York, NY
  • J. Kong
    Departments of Ophthalmology and Pathology, Columbia University, New York, NY
  • R. Allikmets
    Departments of Ophthalmology and Pathology, Columbia University, New York, NY
  • M.A. Dyer
    Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN
  • Footnotes
    Commercial Relationships  M.M. Sohocki, None; S.L. Donovan, None; J. Zhang, None; J.K. Gray, None; A. Ortiz, None; R. Tenney, None; S. Salari, None; J. Kong, None; R. Allikmets, None; M.A. Dyer, None.
  • Footnotes
    Support  Supported by the RPB, FFB, NIH, NCI, ALSAC, and the Karl Kirchgessner Foundation
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 3182. doi:
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      M.M. Sohocki, S.L. Donovan, J. Zhang, J.K. Gray, A. Ortiz, R. Tenney, S. Salari, J. Kong, R. Allikmets, M.A. Dyer; Characterization of Retinal Development in Aipl1 Deficient Mice . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3182.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract
 
Abstract:
 

Our previous genetic analyses of LCA patients identified mutations in the aryl–hydrocarbon interacting protein–like 1 (AIPL1) gene. The presence of this disease from birth is consistent with a developmental defect; therefore, the characterization of retinal development in an animal model of Aipl1–associated blindness is especially important.

 

We combined several genetic approaches both in vitro and in our recently developed Aipl1–deficient mouse to characterize the role of Aipl1 in regulating proliferation, apoptosis, cell fate specification and differentiation in the retina.

 

Aipl1 misexpression altered retinal proliferation and cell fate specification; however, there was an absence of gross abnormalities in the early stage retinae of the Aipl1–deficient mouse. The absence of Aipl1 is lethal to photoreceptors in the final stages of cell differentiation, with the mouse displaying rapid retinal degeneration and massive Müller cell gliosis, resembling the phenotype of the rd mouse.

 

Other family members or proteins in the Aipl1 functional pathway might be performing redundant or compensatory roles in retinal proliferation but are unable to compensate for the absence of Aipl1 in later stages of retinal development.

 

 

Ultrastructural analysis P12 Aipl1–deficient retinae. Arrowhead, a dying photoreceptor cell adjacent to the outer plexiform layer.

 

 
Keywords: retinal degenerations: hereditary • retinal development • genetics 
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