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 journalArticle

17 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)34-37
Number of pages4
JournalGenes and Immunity
Volume3
Issue number1
DOIs
StatePublished - Feb 2002

Fingerprint

Single Nucleotide Polymorphism
Nucleotides
Genes
HLA-DP Antigens
HLA-D Antigens
Severe Combined Immunodeficiency
MHC Class II Genes
Genetic Promoter Regions
Gene Frequency
Introns
Sequence Analysis
MHC class II transactivator protein
Complementary DNA
Chromosomes
Gene Expression
Mutation

Keywords

  • CIITA
  • MHC class II
  • MHC2TA
  • Single nucleotide polymorphism

ASJC Scopus subject areas

  • Genetics(clinical)
  • Immunology
  • Genetics

Cite this

Single nucleotide polymorphisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA). / Patarroyo, J. C.; Stuve, O.; Piskurich, J. F.; Hauser, S. L.; Oksenberg, J. R.; Zamvil, S. S.

In: Genes and Immunity, Vol. 3, No. 1, 02.2002, p. 34-37.

Research output: Contribution to journalArticle

Patarroyo, J. C. ; Stuve, O. ; Piskurich, J. F. ; Hauser, S. L. ; Oksenberg, J. R. ; Zamvil, S. S. / Single nucleotide polymorphisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA). In: Genes and Immunity. 2002 ; Vol. 3, No. 1. pp. 34-37.
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