Mutations in the human 5-lipoxygenase gene

Kwang Ho In; Eric S. Silverman; Koichiro Asano; David Beier; Andrew R. Fischer; Tim P. Keith; Kristina Serino; Chandri Yandava; George T. De Sanctis; Jeffrey M. Drazen

doi:10.1007/BF02737597

Mutations in the human 5-lipoxygenase gene

Kwang Ho In, Eric S. Silverman, Koichiro Asano, David Beier, Andrew R. Fischer, Tim P. Keith, Kristina Serino, Chandri Yandava, George T. De Sanctis, Jeffrey M. Drazen

Research output: Contribution to journal › Review article › peer-review

14 Citations (Scopus)

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.

Original language	English
Pages (from-to)	59-69
Number of pages	11
Journal	Clinical Reviews in Allergy and Immunology
Volume	17
Issue number	1-2
DOIs	https://doi.org/10.1007/BF02737597
Publication status	Published - 1999
Externally published	Yes

ASJC Scopus subject areas

Immunology and Allergy

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10.1007/BF02737597

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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.",

author = "In, {Kwang Ho} and Silverman, {Eric S.} and Koichiro Asano and David Beier and Fischer, {Andrew R.} and Keith, {Tim P.} and Kristina Serino and Chandri Yandava and {De Sanctis}, {George T.} and Drazen, {Jeffrey M.}",

year = "1999",

doi = "10.1007/BF02737597",

language = "English",

volume = "17",

pages = "59--69",

journal = "Clinical Reviews in Allergy and Immunology",

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publisher = "Humana Press",

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TY - JOUR

T1 - Mutations in the human 5-lipoxygenase gene

AU - In, Kwang Ho

AU - Silverman, Eric S.

AU - Asano, Koichiro

AU - Beier, David

AU - Fischer, Andrew R.

AU - Keith, Tim P.

AU - Serino, Kristina

AU - Yandava, Chandri

AU - De Sanctis, George T.

AU - Drazen, Jeffrey M.

PY - 1999

Y1 - 1999

N2 - 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.

AB - 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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U2 - 10.1007/BF02737597

DO - 10.1007/BF02737597

M3 - Review article

C2 - 10436859

AN - SCOPUS:0032800283

SN - 1080-0549

VL - 17

SP - 59

EP - 69

JO - Clinical Reviews in Allergy and Immunology

JF - Clinical Reviews in Allergy and Immunology

IS - 1-2

ER -

Mutations in the human 5-lipoxygenase gene

Abstract

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