Sprouty genes: regulators of organogenesis and putative modifiers of 22q11 deletion (DiGeorge) syndrome

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We want to determine the role of Sprouty genes in the development of the thymus and other organs affected in 22q11 deletion (DiGeorge) syndrome.More than 1 in 4000 human babies are born with DiGeorge syndrome where a small deletion in their DNA causes defects in the development of organs such as the thymus, parathyroid, heart and middle ear. Studies in genetically altered mouse embryos have helped identify the most important gene within the 22q11 deletion as Tbx1. However, the severity of symptoms can vary greatly, suggesting that other genes outside the deleted region also play important roles.Our recent studies on mouse embryos have suggested that the Sprouty genes control the development of many of the organs affected in DiGeorge syndrome. Using sophisticated mouse genetics we will remove the Sprouty genes from defined tissues to understand their roles during organ development. We will test whether changing the levels of Sprouty genes can affect the severity of defects in mouse models of this syndrome, which would indicate that mutations in Sprouty genes could also affect human patients in a similar way.