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Disruption of the CREBBP gene and decreased expression of CREB, NFκB p65, c-JUN, c-FOS, BCL2 and c-MYC suggest immune dysregulation.
- Source :
-
Human immunology [Hum Immunol] 2013 Aug; Vol. 74 (8), pp. 911-5. Date of Electronic Publication: 2013 May 02. - Publication Year :
- 2013
-
Abstract
- Genomic aberrations in the CREBBP (CREB-binding protein - CREBBP or CBP) gene such as point mutations, small insertions or exonic copy number changes are usually associated with Rubinstein-Taybi syndrome (RTs). In this study, the disruption of the CREBBP gene on chromosome 16p13.3, as revealed by CGH-array and FISH, suggests immune dysregulation in a patient with the Rubinstein Taybi syndrome (RTs) phenotype. Further investigation with Western blot techniques demonstrated decreased expression of CREB, NFκB, c-Jun, c-Fos, BCL2 and cMyc in peripheral blood mononuclear cells, thus indicating that the CREBBP gene is essential for the normal expression of these proteins and the regulation of immune responses.<br /> (Copyright © 2013 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.)
- Subjects :
- CREB-Binding Protein metabolism
Chromosome Banding
Cyclic AMP Response Element-Binding Protein genetics
Cyclic AMP Response Element-Binding Protein metabolism
DNA Copy Number Variations
DNA-Binding Proteins metabolism
Female
Humans
In Situ Hybridization, Fluorescence
Proto-Oncogene Proteins c-bcl-2 genetics
Proto-Oncogene Proteins c-bcl-2 metabolism
Proto-Oncogene Proteins c-fos genetics
Proto-Oncogene Proteins c-fos metabolism
Proto-Oncogene Proteins c-jun genetics
Proto-Oncogene Proteins c-jun metabolism
Proto-Oncogene Proteins c-myc genetics
Proto-Oncogene Proteins c-myc metabolism
Transcription Factor RelA genetics
Transcription Factor RelA metabolism
Translocation, Genetic
Young Adult
CREB-Binding Protein genetics
DNA-Binding Proteins genetics
Gene Expression Regulation
Immunity genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1879-1166
- Volume :
- 74
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- Human immunology
- Publication Type :
- Academic Journal
- Accession number :
- 23643710
- Full Text :
- https://doi.org/10.1016/j.humimm.2013.04.024