Analysis of a mouse model for DiGeorge syndrome suggests that genetic modifiers affect the disease phenotype.
Patients with del22q11 syndrome, which includes DiGeorge and velocardiofacial syndromes, present with a range of abnormalities including cardiovascular defects, thymic and parathyroid hypoplasia, facial anomalies and mental retardation. Although most patients have a common 3 Mb deletion within chromosome 22q11.2, their clinical symptoms are highly variable. In the September 25 Proceedings of the National Academy of Sciences, Ilaria Taddei and colleagues at the Baylor College of Medicine provide evidence for genetic modifiers that influence the phenotypic variability of del22q11 syndrome (Proc Natl Acad Sci USA 2001, 98:11428-11431).
They studied a mouse model of the disease that harbours a deletion, Df1, in the corresponding region of the mouse genome. They derived Df1 lines on different genetic backgrounds — either a pure 129SvEv background (the genetic background of the embryonic stem cell line used to generate the mice) or on a C57BL/6 background (back-crossed for nine generations).
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