A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
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.
Chang
Bo
B
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA.
Grau
Tanja
T
Dangel
Susann
S
Hurd
Ron
R
Jurklies
Bernhard
B
Sener
E Cumhur
EC
Andreasson
Sten
S
Dollfus
Helene
H
Baumann
Britta
B
Bolz
Sylvia
S
Artemyev
Nikolai
N
Kohl
Susanne
S
Heckenlively
John
J
Wissinger
Bernd
B
D000818:Animals; D002874:Chromosome Mapping; D003117:Color Vision Defects / Q000235:genetics*; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D051379:Mice; D008817:Mice, Mutant Strains; D020125:Mutation, Missense; D012326:RNA Splicing
D005136:Eye Proteins; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C096885:PDE6C protein, human