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

Genes & Immunity volume 3, pages 34–37 (2002)Cite this article

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.

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Acknowledgements

We thank Drs Christian von Büdingen and Sergio Baranzini for helpful discussions.

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Authors and Affiliations

  1. Department of Neurology, University of California, San Francisco, San Francisco, 94143, CA, USA

    J C Patarroyo, O Stuve, S L Hauser, J R Oksenberg & S S Zamvil

  2. Division of Basic Medical Sciences, Mercer University School of Medicine, Macon, 31207, GA, USA

    J F Piskurich

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  1. J C Patarroyo
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  2. O Stuve
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  3. J F Piskurich
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  4. S L Hauser
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  5. J R Oksenberg
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  6. S S Zamvil
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Corresponding author

Correspondence to S S Zamvil.

Additional 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.

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Patarroyo, J., Stuve, O., Piskurich, J. et al. Single nucleotide polymorphisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA). Genes Immun 3, 34–37 (2002). https://doi.org/10.1038/sj.gene.6363808

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  • DOI: https://doi.org/10.1038/sj.gene.6363808

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