Document Detail


A restriction fragment length polymorphism results in a nonconservative amino acid substitution encoded within the first exon of the human lysyl oxidase gene.
MedLine Citation:
PMID:  8100215     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A cDNA covering most of the coding sequence for human lysyl oxidase was used to screen, by Southern blot analysis, genomic DNA from circulating lymphocytes obtained from unrelated, apparently normal individuals. A heritable restriction fragment length polymorphism (RFLP) within a PstI restriction site was detected in 36% of individuals screened (a total of 72 chromosomes were analyzed). The major allele was represented as a 1.7-kb PstI restriction fragment. The minor allele was detected as 1.4 and 0.3kb restriction fragments. Lambda phage-DNA recombinants were isolated from a human lung fibroblast genomic DNA library using the human lysyl oxidase cDNA clone. DNA sequence analysis of several selected phage recombinants revealed that 83% of the coding sequence of lysyl oxidase was localized in four separate exons. Analysis of the coding sequence within exon 1, the most 5' exon within the lysyl oxidase gene, revealed that the PstI RFLP was due to a G-->A transition resulting in a nonconservative arginine to glutamine substitution proximal to a propeptide cleavage domain encoded by exon 1 of the lysyl oxidase gene.
Authors:
K Csiszar; T J Mariani; J S Gosin; S B Deak; C D Boyd
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  16     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1993 May 
Date Detail:
Created Date:  1993-07-26     Completed Date:  1993-07-26     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  401-6     Citation Subset:  IM    
Affiliation:
Department of Surgery, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, New Brunswick 08903.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Amino Acid Sequence
Base Sequence
Consensus Sequence
DNA / genetics
DNA, Recombinant / genetics
Exons
Humans
Lymphocytes
Molecular Sequence Data
Polymorphism, Restriction Fragment Length*
Protein-Lysine 6-Oxidase / genetics*
Grant Support
ID/Acronym/Agency:
HL37438/HL/NHLBI NIH HHS; HL39869/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/DNA, Recombinant; 9007-49-2/DNA; EC 1.4.3.13/Protein-Lysine 6-Oxidase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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