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. 1999 Spring-Summer;17(1-2):59-69.
doi: 10.1007/BF02737597.

Mutations in the human 5-lipoxygenase gene

K H In  1 , E S Silverman, K Asano, D Beier, A R Fischer, T P Keith, K Serino, C Yandava, G T De Sanctis, J M Drazen
Affiliations

Mutations in the human 5-lipoxygenase gene

K H In et al. Clin Rev Allergy Immunol. 1999 Spring-Summer.

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.

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