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Title: Isolation and characterization of candidate genes of the 5q13 region in spinal muscular atrophy

Abstract

Based on a fine genetic and physical map of the region deleted in spinal muscular atrophy, we defined the smallest rearrangements encompassing the SMA gene. This interval is entirely contained in the 903D1 YAC clone. Several approaches to identify candidate genes were applied, including the search for interspecies conservation, exon trapping amplification and direct cDNA selection. Combining these strategies, six different cDNA molecules mapping to the YAC contig were isolated. Four cDNA molecules were isolated using the exon trapping system. They map to chromosome 5p and to more than one locus within the 5q13 region. They are homologous to each other and share sequence homology with the {beta}-glucuronidase gene. Based on interspecies conservation, a fifth candidate gene was identified. Sequence analyses of the cDNAs revealed no homologies with any other described genes. This gene mapped to two loci within the 5q13 region. Two other cDNA molecules isolated by direct cDNA selection are also under investigation. Complete characterization and fine physical mapping of those genes with respect to the physical interval defined by the deletions of the SMA region will allow the identification of the disease gene (or genes).

Authors:
; ;  [1]
  1. Hopital Enfants-Malades, Paris (France) [and others
Publication Date:
OSTI Identifier:
134432
Report Number(s):
CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-1166
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Human Genetics; 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; GENES; GENE MUTATIONS; GENETIC MAPPING; DNA-CLONING; BIOLOGICAL EVOLUTION; HUMAN CHROMOSOME 5; DISEASES; MUSCLES; YEASTS; CONTIGS; EXONS; GENE AMPLIFICATION; DNA SEQUENCING

Citation Formats

Lefebvre, S., Reboullet, S., and Benichou, B. Isolation and characterization of candidate genes of the 5q13 region in spinal muscular atrophy. United States: N. p., 1994. Web.
Lefebvre, S., Reboullet, S., & Benichou, B. Isolation and characterization of candidate genes of the 5q13 region in spinal muscular atrophy. United States.
Lefebvre, S., Reboullet, S., and Benichou, B. Thu . "Isolation and characterization of candidate genes of the 5q13 region in spinal muscular atrophy". United States. doi:.
@article{osti_134432,
title = {Isolation and characterization of candidate genes of the 5q13 region in spinal muscular atrophy},
author = {Lefebvre, S. and Reboullet, S. and Benichou, B.},
abstractNote = {Based on a fine genetic and physical map of the region deleted in spinal muscular atrophy, we defined the smallest rearrangements encompassing the SMA gene. This interval is entirely contained in the 903D1 YAC clone. Several approaches to identify candidate genes were applied, including the search for interspecies conservation, exon trapping amplification and direct cDNA selection. Combining these strategies, six different cDNA molecules mapping to the YAC contig were isolated. Four cDNA molecules were isolated using the exon trapping system. They map to chromosome 5p and to more than one locus within the 5q13 region. They are homologous to each other and share sequence homology with the {beta}-glucuronidase gene. Based on interspecies conservation, a fifth candidate gene was identified. Sequence analyses of the cDNAs revealed no homologies with any other described genes. This gene mapped to two loci within the 5q13 region. Two other cDNA molecules isolated by direct cDNA selection are also under investigation. Complete characterization and fine physical mapping of those genes with respect to the physical interval defined by the deletions of the SMA region will allow the identification of the disease gene (or genes).},
doi = {},
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}
}