Linked Life Data

11857059

Source:http://linkedlifedata.com/resource/pubmed/id/11857059

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2002-3-6
pubmed:abstractText
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.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1466-4879
pubmed:author
pubmed:issnType
Print
pubmed:volume
3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
34-7
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Single nucleotide polymorphisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA).
pubmed:affiliation
Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't