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PMID: 1549574 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.

Isolation of a candidate gene for choroideremia.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 89 ·No. 6 ·1992-03-15 ·Pages 2135-9

Merry DE, Jänne PA, Landers JE, Lewis RA, Nussbaum RL

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.

MeSH Terms
Amino Acid Sequence Animals Base Sequence Blotting, Southern Cell Line Choroideremia/genetics Chromosome Walking DNA/genetics,isolation & purification Female Gene Library Genes Hybrid Cells Male Mice Molecular Sequence Data Oligodeoxyribonucleotides Polymerase Chain Reaction/methods RNA, Messenger/analysis,genetics Reference Values Restriction Mapping X Chromosome
Chemicals
Oligodeoxyribonucleotides RNA, Messenger DNA
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Merry D E
Department of Human Genetics, University of Pennsylvania School of Medicine, Philadelphia 19104.
Jänne P A
Landers J E
Lewis R A
Nussbaum R L
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.89.6.2135
Published
1992-03-15
Pages
2135-9
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC48611
Subset
IM
Grants
NIGMS NIH HHS · 5T32GM07170 · United States
NEI NIH HHS · R01EY06566 · United States
Databases
GENBANK
M83773
External Links
PubMed source DOI: 10.1073/pnas.89.6.2135 PMC Full Text View journal details
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