Mutations in the human 5-lipoxygenase gene.
Publication/Presentation Date
1-1-1999
Abstract
Our data demonstrate the presence of a naturally occurring family of alleles in the core promoter of the 5-LO gene, which is characterized by the deletion or addition of consensus Sp1 (-GGGCGG) and Egr-1 (-GCGGGGGCG-) binding motifs. Each of the variant alleles can bind Sp1 and Egr-1 protein, as indicated by EMSA and supershift analysis with nuclear extracts. In addition, preliminary data from CAT reporter assays indicate that these alleles are less effective than the wild-type allele in initiating 5-LO gene expression. Whether patients harboring the various alleles identified herein have different capacities to transcribe the 5-LO gene and the importance of such potential regulation to the clinical expression of 5-LO have yet to be determined.
Volume
17
Issue
1-2
First Page
59
Last Page
69
ISSN
1080-0549
Published In/Presented At
In, K. H., Silverman, E. S., Asano, K., Beier, D., Fischer, A. R., Keith, T. P., Serino, K., Yandava, C., De Sanctis, G. T., & Drazen, J. M. (1999). Mutations in the human 5-lipoxygenase gene. Clinical reviews in allergy & immunology, 17(1-2), 59–69. https://doi.org/10.1007/BF02737597
Disciplines
Medicine and Health Sciences
PubMedID
10436859
Department(s)
Department of Medicine
Document Type
Article