Human embryonic stem cells as a model for the study of X chromosome inactivation

• Grant number: 08/00058-0
• Support Opportunities: Scholarships in Brazil - Doctorate
• Effective date (Start): November 01, 2008
• Effective date (End): January 31, 2012
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Lygia da Veiga Pereira
• Grantee: Ana Maria Fraga
• Host Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

In mammals, the inactivation of the X chromosome promotes dosage compensation between its genes products in males and females. It is established early in pre-implantation female embryos, and it´s characterized by epigenetic changes in the inactive X chromosome. The best experimental tool to study the first step (initiation) in X chromosome inactivation (XCI) is the mouse embryonic stem cells, pluripotent cells obtained from the inner cell mass of the blastocyst. As these cells differentiate in vitro, they inactivate the X chromosome, allowing the study of the molecular mechanisms behind this epigenetical phenomenon. In 1998, the derivation of embryonic stem cells from human blastocysts was first reported, and it opened a unique window not only in therapeutic means but also in the study of human development. As their murine counterpart, the human embryonic stem cells are a powerful experimental model to study the initiation of XCI, as they represent the human embryo with two active X chromosomes, in the pre-implantation stage. This project aims to establish new lines of human embryonic stem cells, and intends to characterize them for further utilization as a model for the study of XCI in humans. (AU)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

FRAGA, Ana Maria. Establishment and maintenance of X-chromosome inactivation in human cells. 2012. Doctoral Thesis - Universidade de São Paulo (USP). Instituto de Biociências (IBIOC/SB) São Paulo.