Disruption of the CREBBP gene and decreased expression of CREB, NFκB p65, c-JUN, c-FOS, BCL2 and c-MYC suggest immune dysregulation

Leuridan Cavalcante Torres; Leslie Domenici Kulikowski; Patrícia Locosque Ramos; Sofia Mizuko Miura Sugayama; Carlos Alberto Moreira-Filho; Magda Carneiro-Sampaio

doi:10.1016/j.humimm.2013.04.024

Disruption of the CREBBP gene and decreased expression of CREB, NFκB p65, c-JUN, c-FOS, BCL2 and c-MYC suggest immune dysregulation

Hum Immunol. 2013 Aug;74(8):911-5. doi: 10.1016/j.humimm.2013.04.024. Epub 2013 May 2.

Authors

Leuridan Cavalcante Torres¹, Leslie Domenici Kulikowski, Patrícia Locosque Ramos, Sofia Mizuko Miura Sugayama, Carlos Alberto Moreira-Filho, Magda Carneiro-Sampaio

Affiliation

¹ Department of Pediatrics, Instituto da Criança HC-FMUSP, LIM 36, Universidade de São Paulo, Brazil.

PMID: 23643710
DOI: 10.1016/j.humimm.2013.04.024

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

CREB-Binding Protein / genetics*
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 / genetics*
DNA-Binding Proteins / metabolism
Female
Gene Expression Regulation*
Humans
Immunity / genetics*
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

Substances

Cyclic AMP Response Element-Binding Protein
DNA-Binding Proteins
Proto-Oncogene Proteins c-bcl-2
Proto-Oncogene Proteins c-fos
Proto-Oncogene Proteins c-jun
Proto-Oncogene Proteins c-myc
Transcription Factor RelA
CREB-Binding Protein
CREBBP protein, human