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Title: Towards isolation of the gene for X-linked retinitis pigmentosa (RP3)

Abstract

Until recently the region of interest containing the gene for X-linked retinitis pigmentosa (RP3) was thought to lie between CYBB (Xp21.1) and the proximal end of the deletion in patient BB (JBBprox). This region was thought to span 100-150 kb. Here we present new mapping data to show that the distance between the 5{prime} (most proximal) end of CYBB and JBBprox is only 50 kb. Recently Roux et al. (1994) have described the isolation of a gene within this region but this showed no disease-associated changes. Further evidence from mapping the deletion in patient NF (who suffered from McLead`s syndrome and CGD but not RP) and from linkage analysis of our RP3 families with a new dinucleotide repeat suggests that the gene must extend proximally from JBBprox. In order to extend the region of search we have constructed a YAC contig spanning 800 kb to OTC. We are continuing our search for the RP3 gene using a variety of strategies including exon trapping and cDNA enrichment as well as direct screening of cDNA libraries with subclones from this region.

Authors:
; ;  [1]
  1. MRC Human Genetics Unit, Scotland (United Kingdom); and others
Publication Date:
OSTI Identifier:
134403
Report Number(s):
CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-1137
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Volume: 55; Journal Issue: Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; HEREDITARY DISEASES; SENSE ORGANS DISEASES; GENES; GENETIC MAPPING; GENE MUTATIONS; HUMAN X CHROMOSOME; BIOLOGICAL MARKERS; DNA-CLONING; YEASTS; CONTIGS; NUCLEOTIDES; STATISTICS; EXONS

Citation Formats

Dry, K L, Aldred, M A, and Hardwick, L J. Towards isolation of the gene for X-linked retinitis pigmentosa (RP3). United States: N. p., 1994. Web.
Dry, K L, Aldred, M A, & Hardwick, L J. Towards isolation of the gene for X-linked retinitis pigmentosa (RP3). United States.
Dry, K L, Aldred, M A, and Hardwick, L J. 1994. "Towards isolation of the gene for X-linked retinitis pigmentosa (RP3)". United States.
@article{osti_134403,
title = {Towards isolation of the gene for X-linked retinitis pigmentosa (RP3)},
author = {Dry, K L and Aldred, M A and Hardwick, L J},
abstractNote = {Until recently the region of interest containing the gene for X-linked retinitis pigmentosa (RP3) was thought to lie between CYBB (Xp21.1) and the proximal end of the deletion in patient BB (JBBprox). This region was thought to span 100-150 kb. Here we present new mapping data to show that the distance between the 5{prime} (most proximal) end of CYBB and JBBprox is only 50 kb. Recently Roux et al. (1994) have described the isolation of a gene within this region but this showed no disease-associated changes. Further evidence from mapping the deletion in patient NF (who suffered from McLead`s syndrome and CGD but not RP) and from linkage analysis of our RP3 families with a new dinucleotide repeat suggests that the gene must extend proximally from JBBprox. In order to extend the region of search we have constructed a YAC contig spanning 800 kb to OTC. We are continuing our search for the RP3 gene using a variety of strategies including exon trapping and cDNA enrichment as well as direct screening of cDNA libraries with subclones from this region.},
doi = {},
url = {https://www.osti.gov/biblio/134403}, journal = {American Journal of Human Genetics},
number = Suppl.3,
volume = 55,
place = {United States},
year = {Thu Sep 01 00:00:00 EDT 1994},
month = {Thu Sep 01 00:00:00 EDT 1994}
}