Am J Hum Genet. 2002 Aug;71(2):422-5. Epub 2002 Jun 20.

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.

Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadalà M, Jacobson SG, Wissinger B.

Source

Molekulargenetisches Labor, Universitäts-Augenklinik, Auf der Morgenstelle 15, D-72076 Tübingen, Germany.

Abstract

Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13. GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s). Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia.

PMID:: 12077706; [PubMed - indexed for MEDLINE]
PMCID:: PMC379175

Free PMC Article

Images from this publication.See all images (1)Free text

Publication Types, MeSH Terms, Substances, Secondary Source ID

Publication Types

Research Support, Non-U.S. Gov't

MeSH Terms

Substances

Transducin

Secondary Source ID

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

Supplemental Content

Save items

PubReader: Say goodbye to the old way of reading articles.

Related citations in PubMed

Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). [J Med Genet. 2002]
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).
Aligianis IA, Forshew T, Johnson S, Michaelides M, Johnson CA, Trembath RC, Hunt DM, Moore AT, Maher ER. J Med Genet. 2002 Sep; 39(9):656-60.
A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene. [Mol Vis. 2004]
A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.
Piña AL, Baumert U, Loyer M, Koenekoop RK. Mol Vis. 2004 Apr 8; 10:265-71. Epub 2004 Apr 8.
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. [Nat Genet. 1998]
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.
Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B. Nat Genet. 1998 Jul; 19(3):257-9.
Review Molecular genetics of colour vision deficiencies. [Clin Exp Optom. 2004]
Review Molecular genetics of colour vision deficiencies.
Deeb SS. Clin Exp Optom. 2004 Jul; 87(4-5):224-9.
Review Genetics of color vision deficiencies. [Dev Ophthalmol. 2003]
Review Genetics of color vision deficiencies.
Deeb SS, Kohl S. Dev Ophthalmol. 2003; 37:170-87.

See reviews... See all...

Cited by 23 PubMed Central articles

Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia. [BMC Genet. 2013]
Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia.
Yeh CY, Goldstein O, Kukekova AV, Holley D, Knollinger AM, Huson HJ, Pearce-Kelling SE, Acland GM, Komáromy AM. BMC Genet. 2013 Apr 20; 14(1):27. Epub 2013 Apr 20.
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. [Am J Hum Genet. 2012]
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC, European Retinal Disease Consortium, et al. Am J Hum Genet. 2012 Sep 7; 91(3):527-32. Epub 2012 Aug 16.
Pineal photoreceptor cells are required for maintaining the circadian rhythms of behavioral visual sensitivity in zebrafish. [PLoS One. 2012]
Pineal photoreceptor cells are required for maintaining the circadian rhythms of behavioral visual sensitivity in zebrafish.
Li X, Montgomery J, Cheng W, Noh JH, Hyde DR, Li L. PLoS One. 2012; 7(7):e40508. Epub 2012 Jul 16.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
BioSystems
Pathways and biological systems (BioSystems) that cite the current articles. Citations are from the BioSystems source databases (KEGG and BioCyc).
ClinVar
Clinical variations associated with publication
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (GeneRIF)
Gene records that have the current articles as Reference into Function citations (GeneRIFs). NLM staff reviewing the literature while indexing MEDLINE add GeneRIFs manually.
Gene (nucleotide/PMC)
Records in Gene identified from shared sequence and PMC links.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
MedGen
Related information in MedGen
MedGen (Bookshelf cited)
Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries
MedGen (OMIM)
Related information in MedGen (OMIM)
Nucleotide
Primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patien...
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.
Am J Hum Genet. 2002 Aug ;71(2):422-5. Epub 2002 Jun 20 .

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: