Unravelling the genes behind heart and large blood vessel development

The pharyngeal endoderm in arch artery morphogenesis

Dr Simon Bamforth and colleagues at the University of Newcastle upon Tyne are studying what genes are important during the development of the major blood vessels in the chest, which carry blood to and from the heart, and around the body. Many children are born each year with problems with these major blood vessels, which can mean that they need complicated operations to be able live normal healthy lives. These major blood vessels form very early in the developing embryo, and many genes and tissue types are involved – but we don’t understand which ones. In this project, Dr Bamforth will study a certain type of tissue called the endoderm, the innermost tissue of an early developing embryo, to find out which genes are expressed there, how they interact with each other, and how they control blood vessel formation. He will study two genes responsible for the production of proteins called Tbx1 and Pax9. Tbx1 has already been linked to DiGeorge syndrome and the formation of these major blood vessels, and Dr Bamforth and colleagues have shown that Tbx1 and Pax9 interact. Dr Bamforth will now look at the effect of removing these proteins in the endoderm and how this influences the development of the major blood vessels in mice. This research will reveal more about which genes are important for the major blood vessels in the chest to develop and form properly. Ultimately, it may lead to new ways to help prevent babies being born with major blood vessel defects in the future.