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Title: Identification of candidate genes in the spinal muscular atrophy gene region

Abstract

The SMA disease gene region on chromosome 5q13 has been characterized by the presence of low copy repeat element DNA and concomitant genomic instability. The identification of candidate genes has been complicated by the low-copy repeat sequences which include coding and non-coding DNA. To circumvent this problem, we have focused on the identification and characterization of exonic DNA sequence isolated from YAC-derived bacteriophage subclones. Contrary to hybridization-based protocols which identify all closely homologous genes, exons isolated in this manner are known to map the disease gene region. Exon trapping was limited to an approximately 400 kb {open_quotes}minimum genetic region{close_quotes} defined by recombination mapping. Approximately six new genes have been identified by this method. One of the candidate genes is expressed predominantly in muscle and demonstrates sequence homology with known translational regulatory proteins. Physical mapping places the gene within the minimal genetic region and adjacent to a region characterized with genomic instability. We will report our progress in the identification of disease-specific mutations in this gene based upon comparison of normal and SMA cDNA sequence, amplification and sequencing of SMA DNA samples, and RT-PCR sequencing studies.

Authors:
; ;  [1]
  1. Columbia Univ., New York, NY (United States); and others
Publication Date:
OSTI Identifier:
133386
Report Number(s):
CONF-941009-
Journal ID: AJHGAG; ISSN 0002-9297; TRN: 95:005313-0114
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; GENES; GENE RECOMBINATION; INSTABILITY; GENE MUTATIONS; HUMAN CHROMOSOME 5; GENETIC MAPPING; MUSCLES; DISEASES; DNA-CLONING; DNA HYBRIDIZATION; YEASTS; PROTEINS; POLYMERASE CHAIN REACTION; DNA SEQUENCING

Citation Formats

Carter, T A, Wang, C H, and Vitale, E. Identification of candidate genes in the spinal muscular atrophy gene region. United States: N. p., 1994. Web.
Carter, T A, Wang, C H, & Vitale, E. Identification of candidate genes in the spinal muscular atrophy gene region. United States.
Carter, T A, Wang, C H, and Vitale, E. 1994. "Identification of candidate genes in the spinal muscular atrophy gene region". United States.
@article{osti_133386,
title = {Identification of candidate genes in the spinal muscular atrophy gene region},
author = {Carter, T A and Wang, C H and Vitale, E},
abstractNote = {The SMA disease gene region on chromosome 5q13 has been characterized by the presence of low copy repeat element DNA and concomitant genomic instability. The identification of candidate genes has been complicated by the low-copy repeat sequences which include coding and non-coding DNA. To circumvent this problem, we have focused on the identification and characterization of exonic DNA sequence isolated from YAC-derived bacteriophage subclones. Contrary to hybridization-based protocols which identify all closely homologous genes, exons isolated in this manner are known to map the disease gene region. Exon trapping was limited to an approximately 400 kb {open_quotes}minimum genetic region{close_quotes} defined by recombination mapping. Approximately six new genes have been identified by this method. One of the candidate genes is expressed predominantly in muscle and demonstrates sequence homology with known translational regulatory proteins. Physical mapping places the gene within the minimal genetic region and adjacent to a region characterized with genomic instability. We will report our progress in the identification of disease-specific mutations in this gene based upon comparison of normal and SMA cDNA sequence, amplification and sequencing of SMA DNA samples, and RT-PCR sequencing studies.},
doi = {},
url = {https://www.osti.gov/biblio/133386}, 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}
}