title: Disruption of the CREBBP gene and decreased expression of CREB, NFκB p65, c-JUN, c-FOS, BCL2 and c-MYC suggest immune dysregulation.
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.
authors: Department of Pediatrics, Instituto da Criança HC-FMUSP, LIM 36, Universidade de São Paulo, Brazil.
authors: Leuridan Cavalcante
authors: LC
authors: Torres
authors: Leslie Domenici
authors: LD
authors: Kulikowski
authors: Patrícia Locosque
authors: PL
authors: Ramos
authors: Sofia Mizuko Miura
authors: SM
authors: Sugayama
authors: Carlos Alberto
authors: CA
authors: Moreira-Filho
authors: Magda
authors: M
authors: Carneiro-Sampaio
mesh_terms: D050882:CREB-Binding Protein / Q000235:genetics* / Q000378:metabolism; D002871:Chromosome Banding; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics / Q000378:metabolism; D056915:DNA Copy Number Variations; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D007109:Immunity / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D019253:Proto-Oncogene Proteins c-bcl-2 / Q000235:genetics / Q000378:metabolism; D016760:Proto-Oncogene Proteins c-fos / Q000235:genetics / Q000378:metabolism; D016755:Proto-Oncogene Proteins c-jun / Q000235:genetics / Q000378:metabolism; D016271:Proto-Oncogene Proteins c-myc / Q000235:genetics / Q000378:metabolism; D051996:Transcription Factor RelA / Q000235:genetics / Q000378:metabolism; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D004268:DNA-Binding Proteins; D019253:Proto-Oncogene Proteins c-bcl-2; D016760:Proto-Oncogene Proteins c-fos; D016755:Proto-Oncogene Proteins c-jun; D016271:Proto-Oncogene Proteins c-myc; D051996:Transcription Factor RelA; D050882:CREB-Binding Protein; C494363:CREBBP protein, human