Toggle Main Menu Toggle Search

Open Access padlockePrints

Molecular Basis of an Inherited Form of Incomplete Achromatopsia

Lookup NU author(s): Professor Ted Sharpe

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Abstract

Mutations in the genes encoding the CNGA3 and CNGB3 subunits of the cyclic nudeotide-gated (CNG) channel of cone photoreceptors have been associated with autosomal recessive achromatopsia. Here we analyze the molecular basis of achromatopsia in two siblings with residual cone function. Psychophysical and electroretinographic analyses show that the light sensitivity of the cone system is lowered, and the signal transfer from cones to secondary neurons is perturbed. Both siblings carry two mutant CNGA3 alleles that give rise to channel subunits with different single-amino acid substitutions. Heterologous expression revealed that only one mutant forms functional channels, albeit with grossly altered properties, including changes in Ca2+ blockage and permeation. Surprisingly, coexpression of this mutant subunit with CNGB3 rescues the channel phenotype, except for the Ca2+ interaction. We argue that these alterations are responsible for the perturbations in light sensitivity and synaptic transmission.


Publication metadata

Author(s): Trankner D, Jagle H, Kohl S, Apfelstedt-Sylla E, Sharpe LT, Kaupp UB, Zrenner E, Seifert R, Wissinger B

Publication type: Article

Publication status: Published

Journal: Journal of Neuroscience

Year: 2004

Volume: 24

Issue: 1

Pages: 138-147

ISSN (print): 0270-6474

ISSN (electronic): 1529-2401

Publisher: Society for Neuroscience

URL: http://dx.doi.org/10.1523/JNEUROSCI.3883-03.2004

DOI: 10.1523/JNEUROSCI.3883-03.2004

PubMed id: 14715947


Altmetrics

Altmetrics provided by Altmetric


Share