title: Differential methylation pattern of the X-linked lymphoproliferative (XLP) disease gene SH2D1A correlates with the cell lineage-specific transcription.
abstract: SH2D1A, the X-linked lymphoproliferative disease (XLP) gene, encodes a cytoplasmic protein that plays an essential role in controlling Epstein-Barr virus infection. It is expressed in T and NK cells, but not in B cells or in granulocytes. The promoter, the regulatory regions, as well as the mechanisms controlling its tissue-specific expression, are still unknown. We tested the hypothesis that DNA methylation might contribute to tissue-specific SH2D1A gene expression and analyzed the methylation status of 2,300 bp upstream of the ATG starting codon, the coding region and part of intron 1. By bisulfite sequencing and methylation-sensitive restriction enzyme digestion, we show that a differential methylation pattern of CpG-rich regions in the 5' region and the adjacent exon 1 of the SH2D1A gene indeed correlates with the tissue-specific gene transcription.
authors.affiliation: Institute of Immunology, University of Vienna, Borschkegasse 8a, 1090, Vienna, Austria. ornella.parolini@tin.it
authors.forename: Ornella
authors.initials: O
authors.lastname: Parolini
authors.forename: Andreas
authors.initials: A
authors.lastname: Weinhäusel
authors.forename: Birgit
authors.initials: B
authors.lastname: Kagerbauer
authors.forename: Joachim
authors.initials: J
authors.lastname: Sassmann
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Holter
authors.forename: Helmut
authors.initials: H
authors.lastname: Gadner
authors.forename: Oskar A
authors.initials: OA
authors.lastname: Haas
authors.forename: Walter
authors.initials: W
authors.lastname: Knapp
mesh_terms: D000818:Animals; D001665:Binding Sites; D002352:Carrier Proteins / Q000235:genetics*; D019295:Computational Biology; D018899:CpG Islands; D019175:DNA Methylation; D005786:Gene Expression Regulation; D020868:Gene Silencing; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008232:Lymphoproliferative Disorders / Q000235:genetics*; D017422:Sequence Analysis, DNA; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein