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SLUG (SNAI2) overexpression in embryonic developmentPérez-Mancera P.A.a · González-Herrero I.a · Maclean K.e · Turner A.M.e, f · Yip M.-Y.g · Sánchez-Martín M.a · García J.L.b · Robledo C.b · Flores T.c · Gutiérrez-Adán A.d · Pintado B.d · Sánchez-García I.a
aLaboratorio 13 and b Laboratorio 12, Instituto de Biología Molecular y Celular del Cáncer (IBMCC), CSIC/Universidad de Salamanca, cServicio de Anatomía Patológica, Universidad de Salamanca, Salamanca; dArea de Reproducción Animal, Centro de Investigación y Tecnología, Madrid (Spain); eDepartment of Medical Genetics, Sydney Children’s Hospital, and fSchool of Women’s and Children’s Health, University of New South Wales; gMolecular & Cytogenetics Unit, Prince of Wales Hospital, Sydney (Australia)
The Snail-related zinc-finger transcription factor, SLUG (SNAI2), is critical for the normal development of neural crest-derived cells and loss-of-function SLUG mutations have been proven to cause piebaldism and Waardenburg syndrome type 2 in a dose-dependent fashion. However, little is known about the consequences of SLUG overexpression in embryonic development. We report SLUG duplication in a child with a unique de novo 8q11.2→q13.3 duplication associated with tetralogy of Fallot, submucous cleft palate, renal anomalies, hypotonia and developmental delay. To investigate the effects of Slug overexpression on development, we analyzed mice carrying a Slug transgene. These mice were morphologically normal at birth, inferring that Slug overexpression is not sufficient to cause overt morphogenetic defects. In the adult mice, there was a 20% incidence of sudden death, cardiomegaly and cardiac failure associated with incipient mesenchymal tumorigenesis. These findings, while not directly implicating Slug in congenital and acquired heart disease, raise the possibility that Slug overexpression may contribute to specific cardiac phenotypes and cancer development.
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