Isolation of a Candidate Gene for Choroideremia

Overview

Journal Proc Natl Acad Sci U S A

Specialty Science

Date 1992 Mar 15

PMID 1549574

Citations 10

Authors

D E Merry

P A Janne

J E Landers

R A Lewis

R L Nussbaum

Affiliations

Soon will be listed here.

Abstract

Choroideremia is an X chromosome-linked retinal dystrophy of unknown pathogenesis. We have isolated cDNAs from a human retinal library with a genomic probe located at the X chromosomal breakpoint in a female with choroideremia and an X;13 translocation. This cDNA spans the breakpoint in the X;13 translocation female and is deleted in males who have choroideremia as part of a complex phenotype including mental retardation and deafness. However, this cDNA detects no alterations in the DNA of 34 males with isolated choroideremia. Nonetheless, the cDNA does detect reduced or absent levels of mRNA in three-quarters of male patients with an apparently intact gene. These data support the hypothesis that this cDNA represents the gene in which mutations cause choroideremia.

Citing Articles

Comparing Clinical Perimetry and Population Receptive Field Measures in Patients with Choroideremia.

Silson E, Aleman T, Willett A, Serrano L, Pearson D, Rauschecker A Invest Ophthalmol Vis Sci. 2018; 59(8):3249-3258.

PMID: 29971442 PMC: 6110169. DOI: 10.1167/iovs.18-23929.

Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.

Aleman T, Han G, Serrano L, Fuerst N, Charlson E, Pearson D Ophthalmology. 2016; 124(3):359-373.

PMID: 27986385 PMC: 5319901. DOI: 10.1016/j.ophtha.2016.10.022.

Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy.

Freund P, Sergeev Y, MacDonald I Mol Genet Genomic Med. 2016; 4(3):344-58.

PMID: 27247961 PMC: 4867567. DOI: 10.1002/mgg3.208.

MERTK signaling in the retinal pigment epithelium regulates the tyrosine phosphorylation of GDP dissociation inhibitor alpha from the GDI/CHM family of RAB GTPase effectors.

Shelby S, Feathers K, Ganios A, Jia L, Miller J, Thompson D Exp Eye Res. 2015; 140:28-40.

PMID: 26283020 PMC: 4624558. DOI: 10.1016/j.exer.2015.08.006.

A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings.

Iino Y, Fujimaki T, Fujiki K, Murakami A Jpn J Ophthalmol. 2008; 52(4):289-297.

PMID: 18773267 DOI: 10.1007/s10384-008-0564-4.

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