Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:1.4.3.13 (
lysyl oxidase
)
1,248
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:A restriction fragment length polymorphism results in a nonconservative amino acid substitution encoded within the first exon of the human lysyl oxidase gene. 810 Feb 15
