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

Author(s)

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]

Affiliation

^[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

• Document type: Journal article
• Source: HUMAN IMMUNOLOGY; v. 74, n. 8, p. 911-915, AUG 2013.
• Web of Science Citations: 3

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, 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)

• FAPESP's process: 09/53105-9 - Application of molecular cytogenetic in the diagnosis of patients with congenital anomalies for the reduction of infant mortality
• Grantee: Leslie Domenici Kulikowski
• Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)