title: Mutations in the human 5-lipoxygenase gene.
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.
authors.affiliation: Department of Medicine, Brigham and Women's Hospital, Boston, MS, USA.
authors.forename: K H
authors.initials: KH
authors.lastname: In
authors.forename: E S
authors.initials: ES
authors.lastname: Silverman
authors.forename: K
authors.initials: K
authors.lastname: Asano
authors.forename: D
authors.initials: D
authors.lastname: Beier
authors.forename: A R
authors.initials: AR
authors.lastname: Fischer
authors.forename: T P
authors.initials: TP
authors.lastname: Keith
authors.forename: K
authors.initials: K
authors.lastname: Serino
authors.forename: C
authors.initials: C
authors.lastname: Yandava
authors.forename: G T
authors.initials: GT
authors.lastname: De Sanctis
authors.forename: J M
authors.initials: JM
authors.lastname: Drazen
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D000328:Adult; D000483:Alleles; D001094:Arachidonate 5-Lipoxygenase / Q000235:genetics*; D001249:Asthma / Q000201:enzymology / Q000235:genetics; D001483:Base Sequence; D015500:Chloramphenicol O-Acetyltransferase / Q000235:genetics; D005260:Female; D017930:Genes, Reporter; D006239:Haplotypes; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: D020121:5' Untranslated Regions; D014157:Transcription Factors; D001094:Arachidonate 5-Lipoxygenase; D015500:Chloramphenicol O-Acetyltransferase