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CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription

Bruno Ferraz-de-Souza1, Franziska Martin, Delphine Mallet

  • 1Developmental Endocrinology Research Group, University College London Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, United Kingdom.

The Journal of Clinical Endocrinology and Metabolism
|November 6, 2008
PubMed
Abstract

Insights

Two genes, CITED2 and PBX1, are expressed during human adrenal development. While they appear important, mutations in these genes are not a common cause of adrenal failure.

Area of Science:

  • Endocrinology
  • Molecular Biology
  • Genetics

Background:

  • Adrenal development disorders cause significant morbidity and mortality.
  • The molecular mechanisms underlying human adrenal development and disease are not fully understood.

Purpose of the Study:

  • To investigate the roles of CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2 (CITED2) and pre-B-cell leukemia transcription factor 1 (PBX1) in human adrenal development and disease.

Main Methods:

  • Assessed CITED2 and PBX1 expression during early human fetal adrenal development using RT-PCR and in situ hybridization.
  • Evaluated the regulation of CITED2 and PBX1 by steroidogenic factor-1 (SF-1) and dosage-sensitive sex reversal, adrenal hypoplasia congenital, critical region on the X chromosome, gene-1 (DAX1) in NCI-H295R cells.
  • Performed mutational analysis of CITED2 and PBX1 in patients with primary adrenal disorders.

Main Results:

  • CITED2 and PBX1 are expressed in the developing human fetal adrenal gland.
  • SF-1 activates both CITED2 and PBX1 in a dose-dependent manner; DAX1 synergistically activates PBX1 with SF-1.
  • No significant coding sequence mutations in CITED2 or PBX1 were found in patients with primary adrenal disorders.

Conclusions:

  • CITED2 and PBX1 are likely key mediators of human adrenal development and function.
  • Mutations in CITED2 and PBX1 are not frequent causes of adrenal failure in patients with unknown molecular diagnoses.
  • The synergistic interaction between DAX1 and SF-1 in regulating PBX1 may represent a crucial mechanism in adrenal development.

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