Nat Genet. 1995 Dec;11(4):468-71.

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.

Huang SH, Pittler SJ, Huang X, Oliveira L, Berson EL, Dryja TP.

Source

Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Boston, Massachusetts, USA.

Abstract

Retinitis pigmentosa (RP) constitutes a group of genetically heterogeneous progressive photoreceptor degenerations leading to blindness and affecting 50,000-100,000 people in the U.S. alone. Over 20 different RP loci have been mapped, of which six have been identified. Three of these encode members of the rod photoreceptor visual transduction cascade: rhodopsin, the rod cGMP-gated cation channel alpha subunit, and the beta subunit of cGMP-phosphodiesterase (PDEB). As null mutations in PDEB cause some cases of RP and since both alpha and beta subunits are required for full phosphodiesterase activity, we examined the gene encoding the alpha subunit of cGMP phosphodiesterase (PDEA) in 340 unrelated patients with RP. We found three point mutations in PDEA in affected members of two pedigrees with recessive RP. Each mutation alters an essential functional domain of the encoded protein and likely disrupts its catalytic function. PDEA is the seventh RP gene identified, highlighting the extensive genetic heterogeneity of the disorder and encouraging further investigation into the role of other members of the phototransduction cascade in RP.

PMID:: 7493036; [PubMed - indexed for MEDLINE]

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GENBANK/U39147
GENBANK/U39148
GENBANK/U39149
GENBANK/U39150
GENBANK/U39151
GENBANK/U39152
GENBANK/U39153
GENBANK/U39154
GENBANK/U39155
GENBANK/U39156
GENBANK/U39157
GENBANK/U39158
GENBANK/U39159
GENBANK/U39160
GENBANK/U39161
GENBANK/U39162
GENBANK/U39163
GENBANK/U39164
GENBANK/U39165
GENBANK/U39166
GENBANK/U39167
GENBANK/U39168
GENBANK/U39169
GENBANK/U39170
GENBANK/U39171
GENBANK/U39172
GENBANK/U39173
GENBANK/U39174
GENBANK/U39175
GENBANK/U39176

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Related citations in PubMed

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. [Proc Natl Acad Sci U S A. 1995]
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
Dryja TP, Finn JT, Peng YW, McGee TL, Berson EL, Yau KW. Proc Natl Acad Sci U S A. 1995 Oct 24; 92(22):10177-81.
Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. [Invest Ophthalmol Vis Sci. 1999]
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Review The molecular genetics of retinal photoreceptor proteins involved in cGMP metabolism. [Prog Clin Biol Res. 1991]
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Review Retinitis pigmentosa: defined from a molecular point of view.
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Cited by 21 PubMed Central articles

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. [Am J Hum Genet. 2011]
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Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, et al. Am J Hum Genet. 2011 Feb 11; 88(2):207-15. Epub 2011 Feb 3.
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