Single nucleotide polymorphisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA)

J. C. Patarroyo; O. Stuve; J. F. Piskurich; S. L. Hauser; J. R. Oksenberg; S. S. Zamvil

doi:10.1038/sj.gene.6363808

Single nucleotide polymorphisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA)

J. C. Patarroyo, O. Stuve, J. F. Piskurich, S. L. Hauser, J. R. Oksenberg, S. S. Zamvil

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

18 Scopus citations

Abstract

The MHC class II transactivator (CIITA) is the master regulator for HLA-D (DP, DQ, DR) gene expression. In this report the coding and promoter regions of the CIITA gene, MHC2TA, were evaluated for polymorphisms in 50 normal Caucasian individuals. Allele frequencies were obtained for four separate single nucleotide (nt) polymorphisms (SNPs) identified in the MHC2TA coding region: nt 1614 (C→G), nt 2509 (G→A), nt 2536 (T→G), and nt 2791 (G→A). MHC2TA sequence analysis of 100 chromosomes from these 50 individuals revealed a SNP in MHC2TA promoter (p) III at nt ^-155 (A→G), but none in CIITA pI or pIV. In addition, we demonstrate the presence of splice variant at a previously undiscovered intron, accounting for a three nt (TAG) insertion at position 474 that was originally described in association with one of the disease-causing CIITA cDNA mutations in bare lymphocyte syndrome.

Original language	English (US)
Pages (from-to)	34-37
Number of pages	4
Journal	Genes and Immunity
Volume	3
Issue number	1
DOIs	https://doi.org/10.1038/sj.gene.6363808
State	Published - Feb 2002

Keywords

CIITA
MHC class II
MHC2TA
Single nucleotide polymorphism

ASJC Scopus subject areas

Immunology
Genetics
Genetics(clinical)

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10.1038/sj.gene.6363808

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title = "Single nucleotide polymorphisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA)",

abstract = "The MHC class II transactivator (CIITA) is the master regulator for HLA-D (DP, DQ, DR) gene expression. In this report the coding and promoter regions of the CIITA gene, MHC2TA, were evaluated for polymorphisms in 50 normal Caucasian individuals. Allele frequencies were obtained for four separate single nucleotide (nt) polymorphisms (SNPs) identified in the MHC2TA coding region: nt 1614 (C→G), nt 2509 (G→A), nt 2536 (T→G), and nt 2791 (G→A). MHC2TA sequence analysis of 100 chromosomes from these 50 individuals revealed a SNP in MHC2TA promoter (p) III at nt -155 (A→G), but none in CIITA pI or pIV. In addition, we demonstrate the presence of splice variant at a previously undiscovered intron, accounting for a three nt (TAG) insertion at position 474 that was originally described in association with one of the disease-causing CIITA cDNA mutations in bare lymphocyte syndrome.",

keywords = "CIITA, MHC class II, MHC2TA, Single nucleotide polymorphism",

author = "Patarroyo, {J. C.} and O. Stuve and Piskurich, {J. F.} and Hauser, {S. L.} and Oksenberg, {J. R.} and Zamvil, {S. S.}",

note = "Funding Information: Support for this work was provided to SSZ by the Alexander M and June L Maisin Foundation, the Hellman Family Foundation, the National Institutes of Health (Grant no. K02 NS02207), the National Multiple Sclerosis Society (NMSS) (Grant no. RG 3206) and the Nancy Davis Center Without Walls, to JRO by the NMSS (Grant no. RG2901) and to JFP by the NMSS (Grant no. 3273). OS is supported by an NMSS postdoctoral fellowship. Received 17 August 2001; revised and accepted 4 September 2001",

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doi = "10.1038/sj.gene.6363808",

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AU - Patarroyo, J. C.

AU - Stuve, O.

AU - Piskurich, J. F.

AU - Hauser, S. L.

AU - Oksenberg, J. R.

AU - Zamvil, S. S.

N1 - Funding Information: Support for this work was provided to SSZ by the Alexander M and June L Maisin Foundation, the Hellman Family Foundation, the National Institutes of Health (Grant no. K02 NS02207), the National Multiple Sclerosis Society (NMSS) (Grant no. RG 3206) and the Nancy Davis Center Without Walls, to JRO by the NMSS (Grant no. RG2901) and to JFP by the NMSS (Grant no. 3273). OS is supported by an NMSS postdoctoral fellowship. Received 17 August 2001; revised and accepted 4 September 2001

PY - 2002/2

Y1 - 2002/2

N2 - The MHC class II transactivator (CIITA) is the master regulator for HLA-D (DP, DQ, DR) gene expression. In this report the coding and promoter regions of the CIITA gene, MHC2TA, were evaluated for polymorphisms in 50 normal Caucasian individuals. Allele frequencies were obtained for four separate single nucleotide (nt) polymorphisms (SNPs) identified in the MHC2TA coding region: nt 1614 (C→G), nt 2509 (G→A), nt 2536 (T→G), and nt 2791 (G→A). MHC2TA sequence analysis of 100 chromosomes from these 50 individuals revealed a SNP in MHC2TA promoter (p) III at nt -155 (A→G), but none in CIITA pI or pIV. In addition, we demonstrate the presence of splice variant at a previously undiscovered intron, accounting for a three nt (TAG) insertion at position 474 that was originally described in association with one of the disease-causing CIITA cDNA mutations in bare lymphocyte syndrome.

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Single nucleotide polymorphisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA)

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