RGD Reference Report - Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A. - Rat Genome Database

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Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A.

Authors: Bontron, S  Steimle, V  Ucla, C  Eibl, MM  Mach, B 
Citation: Bontron S, etal., Hum Genet. 1997 Apr;99(4):541-6.
RGD ID: 1600188
Pubmed: PMID:9099848   (View Abstract at PubMed)

Congenital MHC class II deficiency or bare lymphocyte syndrome (BLS; McKusick 209920) is caused by defects in trans-acting regulatory factors that control MHC class II expression and is therefore a disease of gene regulation. There are at least four complementation groups and the genetic and molecular dissection of this rare disease has contributed considerably to our current understanding of the molecular mechanisms governing MHC class II expression. Identification of the gene that is defective in BLS complementation group A, CIITA (MHC class II transactivator), has led to the discovery that CIITA acts as a master control factor of MHC class II expression. We have identified the CIITA mutations in a second patient from BLS group A. Two novel mutations abolish CIITA function, as shown by transfection experiments. Molecular analysis of these two novel mutations, together with the one described earlier in the first patient, is informative in terms of CIITA structure-function relationships.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CIITAHumanMHC class II deficiency  IAGP DNA:nonsense mutation:CDS:c.1256G>T more ...RGD 
CiitaRatMHC class II deficiency  ISOCIITA (Homo sapiens)DNA:nonsense mutation:CDS:c.1256G>T more ...RGD 
CiitaMouseMHC class II deficiency  ISOCIITA (Homo sapiens)DNA:nonsense mutation:CDS:c.1256G>T more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ciita  (class II, major histocompatibility complex, transactivator)

Genes (Mus musculus)
Ciita  (class II transactivator)

Genes (Homo sapiens)
CIITA  (class II major histocompatibility complex transactivator)


Additional Information