Research project

PRIN 2017 - 20179J2P9J_002 - Resp. dr.ssa Daniela Alfano: Unraveling cardiac progenitor biology: in vivo mechanistic insights and significance for congenital heart disease. (DSB.AD005.075)

Thematic area

Biomedical sciences

Project area

Genetica (DSB.AD005)

Structure responsible for the research project

Institute of genetics and biophysics "Adriano Buzzati Traverso" (IGB)

Project manager

Phone number: +390816132409


The developing mammalian heart grows by proliferation of resident cells and, to a great extent, by incorporation of cells from an extracardiac source of multipotent cardiac progenitors (CPs) known as second heart field (SHF). The mechanisms by which CPs are guided to and incorporated into the heart are unknown, but they are fundamental for our basic understanding of cardiac development and lineage decisions in multipotent CPs. From a clinical standpoint, the questions being addressed here are highly relevant for congenital heart disease, the most common category of birth defects in humans. In addition, incorporation of progenitors into a functional heart represents a major hurdle in cardiac regeneration research.
Here, we propose the use of genetically defined mouse models in which the incorporation of cardiac progenitors into the heart is severely impaired, which leads to lethal heart defects. The gene mutated in this model, Tbx1, encodes for a T-box transcription factor responsible for most of the clinical phenotype associated with DiGeorge/22q11.2 deletion syndrome, the most common chromosomal deletion syndrome in humans. We and others have demonstrated that TBX1 is [...]

Start date of activity



Tbx1, DiGeorge syndrome, embryo development

Last update: 06/06/2023