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A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

Chang, Bo; Grau, Tanja; Dangel, Susann; Hurd, Ron; Jurklies, Bernhard; Sener, E. Cumhur; Andréasson, Sten LU ; Dollfus, Helene; Baumann, Britta and Bolz, Sylvia, et al. (2009) In Proceedings of the National Academy of Sciences 106(46). p.19581-19586
Abstract
Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia, and lack of color discrimination. Herein we report the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia. Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia.
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organization
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publication status
published
subject
keywords
phosphodiesterase, cone photoreceptor, hereditary retinal disorder
in
Proceedings of the National Academy of Sciences
volume
106
issue
46
pages
19581 - 19586
publisher
National Acad Sciences
external identifiers
  • wos:000271907400064
  • scopus:73349130033
ISSN
1091-6490
DOI
10.1073/pnas.0907720106
language
English
LU publication?
yes
id
56c4ea46-77a5-4819-98c2-0c10951e4435 (old id 1517941)
date added to LUP
2010-01-13 11:54:43
date last changed
2017-10-22 03:41:59
@article{56c4ea46-77a5-4819-98c2-0c10951e4435,
  abstract     = {Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia, and lack of color discrimination. Herein we report the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia. Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia.},
  author       = {Chang, Bo and Grau, Tanja and Dangel, Susann and Hurd, Ron and Jurklies, Bernhard and Sener, E. Cumhur and Andréasson, Sten and Dollfus, Helene and Baumann, Britta and Bolz, Sylvia and Artemyev, Nikolai and Kohl, Susanne and Heckenlively, John and Wissinger, Bernd},
  issn         = {1091-6490},
  keyword      = {phosphodiesterase,cone photoreceptor,hereditary retinal disorder},
  language     = {eng},
  number       = {46},
  pages        = {19581--19586},
  publisher    = {National Acad Sciences},
  series       = {Proceedings of the National Academy of Sciences},
  title        = {A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene},
  url          = {http://dx.doi.org/10.1073/pnas.0907720106},
  volume       = {106},
  year         = {2009},
}