Identification of regulatory polymorphisms in the TNF-TNF receptor superfamily

Ju Young Kim; Song Mean Moon; Ha Jung Ryu; Jae Jung Kim; Hung Tae Kim; Chan Park; Kuchan Kimm; Bermseok Oh; Jong Keuk Lee

doi:10.1007/s00251-005-0800-8

Identification of regulatory polymorphisms in the TNF-TNF receptor superfamily

Ju Young Kim, Song Mean Moon, Ha Jung Ryu, Jae Jung Kim, Hung Tae Kim, Chan Park, Kuchan Kimm, Bermseok Oh, Jong Keuk Lee

Research output: Contribution to journal › Article › peer-review

13 Citations (Scopus)

Abstract

The tumor necrosis factor and TNF receptor (TNF-TNFR) superfamily plays very important roles in the pathogenesis of many immune-mediated diseases. Regulation of TNF-TNFR superfamily gene expression influences many aspects of the pathology associated with these diseases. In order to investigate genetic variations in the regulatory regions of the TNF-TNFR superfamily genes, promoter regions were screened by sequencing DNA samples from 24 unrelated Korean individuals. We identified a total of 68 single-nucleotide polymorphisms (SNPs) in the regulatory regions of the known TNF-TNFR superfamily genes, including 50 SNPs in the promoter regions, 16 SNPs in the 5′-UTR regions, and two SNPs in the coding regions of these genes. Among the 68 SNPs identified in this study, 25 SNPs were novel SNPs. Interestingly, the sequence alteration created by 11 SNPs completely abolished putative transcription factor binding sites in these alleles. These results suggest that these SNP sites can regulate gene expression by controlling the binding of transcription factors. The identification of function-altering SNPs in the promoter regions of the TNF-TNFR superfamily will facilitate efforts to understand the association of TNF-TNFR superfamily genes with several immune-mediated human diseases.

Original language	English
Pages (from-to)	297-303
Number of pages	7
Journal	Immunogenetics
Volume	57
Issue number	5
DOIs	https://doi.org/10.1007/s00251-005-0800-8
Publication status	Published - Jun 2005

Bibliographical note

Funding Information:
Acknowledgements This work was supported by the intramural grant of the National Institute of Health, South Korea.

Copyright:
Copyright 2008 Elsevier B.V., All rights reserved.

Keywords

Korean
Promoter
Single-nucleotide polymorphism (SNP)
Tumor necrosis factor and tumor necrosis factor receptor (TNF-TNFR) superfamily

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1007/s00251-005-0800-8

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title = "Identification of regulatory polymorphisms in the TNF-TNF receptor superfamily",

abstract = "The tumor necrosis factor and TNF receptor (TNF-TNFR) superfamily plays very important roles in the pathogenesis of many immune-mediated diseases. Regulation of TNF-TNFR superfamily gene expression influences many aspects of the pathology associated with these diseases. In order to investigate genetic variations in the regulatory regions of the TNF-TNFR superfamily genes, promoter regions were screened by sequencing DNA samples from 24 unrelated Korean individuals. We identified a total of 68 single-nucleotide polymorphisms (SNPs) in the regulatory regions of the known TNF-TNFR superfamily genes, including 50 SNPs in the promoter regions, 16 SNPs in the 5′-UTR regions, and two SNPs in the coding regions of these genes. Among the 68 SNPs identified in this study, 25 SNPs were novel SNPs. Interestingly, the sequence alteration created by 11 SNPs completely abolished putative transcription factor binding sites in these alleles. These results suggest that these SNP sites can regulate gene expression by controlling the binding of transcription factors. The identification of function-altering SNPs in the promoter regions of the TNF-TNFR superfamily will facilitate efforts to understand the association of TNF-TNFR superfamily genes with several immune-mediated human diseases.",

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note = "Funding Information: Acknowledgements This work was supported by the intramural grant of the National Institute of Health, South Korea. Copyright: Copyright 2008 Elsevier B.V., All rights reserved.",

year = "2005",

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doi = "10.1007/s00251-005-0800-8",

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AU - Park, Chan

AU - Kimm, Kuchan

AU - Oh, Bermseok

AU - Lee, Jong Keuk

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N2 - The tumor necrosis factor and TNF receptor (TNF-TNFR) superfamily plays very important roles in the pathogenesis of many immune-mediated diseases. Regulation of TNF-TNFR superfamily gene expression influences many aspects of the pathology associated with these diseases. In order to investigate genetic variations in the regulatory regions of the TNF-TNFR superfamily genes, promoter regions were screened by sequencing DNA samples from 24 unrelated Korean individuals. We identified a total of 68 single-nucleotide polymorphisms (SNPs) in the regulatory regions of the known TNF-TNFR superfamily genes, including 50 SNPs in the promoter regions, 16 SNPs in the 5′-UTR regions, and two SNPs in the coding regions of these genes. Among the 68 SNPs identified in this study, 25 SNPs were novel SNPs. Interestingly, the sequence alteration created by 11 SNPs completely abolished putative transcription factor binding sites in these alleles. These results suggest that these SNP sites can regulate gene expression by controlling the binding of transcription factors. The identification of function-altering SNPs in the promoter regions of the TNF-TNFR superfamily will facilitate efforts to understand the association of TNF-TNFR superfamily genes with several immune-mediated human diseases.

AB - The tumor necrosis factor and TNF receptor (TNF-TNFR) superfamily plays very important roles in the pathogenesis of many immune-mediated diseases. Regulation of TNF-TNFR superfamily gene expression influences many aspects of the pathology associated with these diseases. In order to investigate genetic variations in the regulatory regions of the TNF-TNFR superfamily genes, promoter regions were screened by sequencing DNA samples from 24 unrelated Korean individuals. We identified a total of 68 single-nucleotide polymorphisms (SNPs) in the regulatory regions of the known TNF-TNFR superfamily genes, including 50 SNPs in the promoter regions, 16 SNPs in the 5′-UTR regions, and two SNPs in the coding regions of these genes. Among the 68 SNPs identified in this study, 25 SNPs were novel SNPs. Interestingly, the sequence alteration created by 11 SNPs completely abolished putative transcription factor binding sites in these alleles. These results suggest that these SNP sites can regulate gene expression by controlling the binding of transcription factors. The identification of function-altering SNPs in the promoter regions of the TNF-TNFR superfamily will facilitate efforts to understand the association of TNF-TNFR superfamily genes with several immune-mediated human diseases.

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Identification of regulatory polymorphisms in the TNF-TNF receptor superfamily

Abstract

Bibliographical note

Keywords

UN SDGs

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