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Title: Mutations in the unc-52 gene responsible for body wall muscle defects in adult Caenorhabditis elegans are located in alternatively spliced exons

Abstract

The unc-52 gene in Caenorhabditis elegans produces several large proteins that function in the basement membrane underlying muscle cells. Mutations in this gene result in defects in myofilament assembly and in the attachment of the myofilament lattice to the muscle cell membrane. The st549 and ut111 alleles of unc-52 produce a lethal (Pat) terminal phenotype whereas the e444, e669, e998, e1012 and e1421 mutations result in viable, paralyzed animals. We have identified the sequence alterations responsible for these mutant phenotypes. The st549 allele has a premature stop codon in exon 7 that should result in the complete elimination of unc-52 gene function, and the ut111 allele has a Tc1 transposon inserted into the second exon of the gene. The five remaining mutations are clustered in a small interval containing three adjacent, alternatively spliced exons (16, 17 and 18). These mutations affect some, but not all of the unc-52-encoded proteins. Thirteen intragenic revertants of the e669, e998, e1012 and e1421 alleles have also been sequenced. The majority of these carry the original mutation plus a G to A transition in the conserved splice acceptor site of the affected exon. This result suggests that reversion of the mutant phenotype in these strainsmore » may be the result of exon-skipping. 38 refs., 6 figs., 2 tabs.« less

Authors:
; ;  [1]
  1. Univ. of British, Columbia, Vancouver (Canada); and others
Publication Date:
OSTI Identifier:
255335
Resource Type:
Journal Article
Journal Name:
Genetics
Additional Journal Information:
Journal Volume: 139; Journal Issue: 1; Other Information: PBD: Jan 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENES; GENE MUTATIONS; SPLICING; DNA SEQUENCING; GENETIC MAPPING; NEMATODES; PHENOTYPE; MUSCLES; DISEASES; PROTEINS; EXONS; CODONS; NUCLEOTIDES

Citation Formats

Rogalski, T M, Gilchrist, E J, and Mullen, G P. Mutations in the unc-52 gene responsible for body wall muscle defects in adult Caenorhabditis elegans are located in alternatively spliced exons. United States: N. p., 1995. Web.
Rogalski, T M, Gilchrist, E J, & Mullen, G P. Mutations in the unc-52 gene responsible for body wall muscle defects in adult Caenorhabditis elegans are located in alternatively spliced exons. United States.
Rogalski, T M, Gilchrist, E J, and Mullen, G P. 1995. "Mutations in the unc-52 gene responsible for body wall muscle defects in adult Caenorhabditis elegans are located in alternatively spliced exons". United States.
@article{osti_255335,
title = {Mutations in the unc-52 gene responsible for body wall muscle defects in adult Caenorhabditis elegans are located in alternatively spliced exons},
author = {Rogalski, T M and Gilchrist, E J and Mullen, G P},
abstractNote = {The unc-52 gene in Caenorhabditis elegans produces several large proteins that function in the basement membrane underlying muscle cells. Mutations in this gene result in defects in myofilament assembly and in the attachment of the myofilament lattice to the muscle cell membrane. The st549 and ut111 alleles of unc-52 produce a lethal (Pat) terminal phenotype whereas the e444, e669, e998, e1012 and e1421 mutations result in viable, paralyzed animals. We have identified the sequence alterations responsible for these mutant phenotypes. The st549 allele has a premature stop codon in exon 7 that should result in the complete elimination of unc-52 gene function, and the ut111 allele has a Tc1 transposon inserted into the second exon of the gene. The five remaining mutations are clustered in a small interval containing three adjacent, alternatively spliced exons (16, 17 and 18). These mutations affect some, but not all of the unc-52-encoded proteins. Thirteen intragenic revertants of the e669, e998, e1012 and e1421 alleles have also been sequenced. The majority of these carry the original mutation plus a G to A transition in the conserved splice acceptor site of the affected exon. This result suggests that reversion of the mutant phenotype in these strains may be the result of exon-skipping. 38 refs., 6 figs., 2 tabs.},
doi = {},
url = {https://www.osti.gov/biblio/255335}, journal = {Genetics},
number = 1,
volume = 139,
place = {United States},
year = {Sun Jan 01 00:00:00 EST 1995},
month = {Sun Jan 01 00:00:00 EST 1995}
}