Title
Physical mapping of two loci (D9S5 and D9S15) tightly linked to Friedreich ataxia locus (FRDA) and identification of nearby CpG islands by pulse-field gel electrophoresis
Date Issued
01 August 1991
Access level
metadata only access
Resource Type
journal article
Author(s)
Institut de Chimie Biologique
Abstract
The Friedreich's ataxia locus (FRDA) has recently been mapped to 9q13-q21 by tight linkage to D9S15 and D9S5 loci. The present lack of recombination between these loci precludes further genetic mapping and suggests that the distances involved are in the megabase range. We have established a 1-Mb map around loci D9S15 (defined by prode MCT112) and D9S5 (defined by probe DR47) and found that they are at most 260 kb apart. Six rare cutting site clusters were found in a 450-kb segment containing both loci. Three clusters were completely unmethylated in two cell lines tested and might correspond to CpG islands flanking transcribed sequences. Cosmid mapping of a 52-kb region around D9S5 and pulse-field geleelectrophoresis analysis showed the presence of three other CpG clusters that were partially or completely methylated. Two of them were present in the cosmid clones available and were associated with sequences conserved in other vertebrate species. The CpG islands and conserved sequences presented here can be used to search for genes defective in Friedreich's ataxia. © 1991.
Start page
915
End page
920
Volume
10
Issue
4
Language
English
OCDE Knowledge area
Genética humana
Scopus EID
2-s2.0-0025899916
PubMed ID
Source
Genomics
ISSN of the container
08887543
Sponsor(s)
We thank Dr. Y. Nakamura and Dr. A. Driesel for probes MCTll2 and DR.47, Dr. T. Mohandas and Dr. J. Boue for CFll-4 and LL208 cell lines, respectively. We also thank Drs. G. Sirugo and R. Feil for helpful discussion and B. Boulay for photographic work. This work was supported by grants from the Association Francaise contre la Myopathie, the Association Francaise de Ataxie de Friedreich, the Minis&e de la Recherche, the CNRS, and INSERM.
Sources of information:
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