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

Autor(es)

Torres, Leuridan Cavalcante ^[1] ; Kulikowski, Leslie Domenici ^[2] ; Ramos, Patricia Locosque ^[1] ; Miura Sugayama, Sofia Mizuko ^[1] ; Moreira-Filho, Carlos Alberto ^[1] ; Carneiro-Sampaio, Magda ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Inst Crianca HC FMUSP, Dept Pediat, BR-05403000 Sao Paulo - Brazil

^[2] Univ Sao Paulo, HC FMUSP, Dept Pathol, Citogenom Lab, BR-05403000 Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: HUMAN IMMUNOLOGY; v. 74, n. 8, p. 911-915, AUG 2013.
• Citações Web of Science: 3

Resumo

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, NP kappa B, 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. (C) 2013 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved. (AU)

• Processo FAPESP: 07/56491-1 - Síndrome de Rubinstein-Taybi: modelo humano para o estudo do papel do gene CREBBP na regulação da resposta imune
• Beneficiário: Magda Maria Sales Carneiro-Sampaio
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 09/53105-9 - Aplicação da citogenética molecular no diagnóstico de pacientes com anomalias congênitas para a redução da mortalidade infantil
• Beneficiário: Leslie Domenici Kulikowski
• Modalidade de apoio: Auxílio à Pesquisa - Pesquisa em Políticas Públicas para o SUS