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Human Molecular Genetics, 2000, Vol. 9, No. 12 1813-1819
© 2000 Oxford University Press

Expression and imprinting of MAGEL2 suggest a role in Prader–Willi syndrome and the homologous murine imprinting phenotype

Syann Lee, Serguei Kozlov1, Lidia Hernandez1, Stormy J. Chamberlain2, Camilynn I. Brannan2, Colin L. Stewart1 and Rachel Wevrick+

Department of Medical Genetics, 842 Medical Sciences Building, University of Alberta, Edmonton, Alberta, Canada T6G 2H7, 1Laboratory of Cancer and Developmental Biology, National Cancer Institute-FCRDC, Frederick, MD 21702-1201, USA and 2Department of Molecular Genetics and Microbiology and the Center for Mammalian Genetics and the University of Florida Brain Institute, University of Florida College of Medicine, Gainesville, FL 32610-0266, USA

Prader–Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11–q13. Affected individuals exhibit neonatal hypotonia, developmental delay and childhood-onset obesity. Necdin, a protein implicated in the terminal differentiation of neurons, is the only PWS candidate gene to reduce viability when disrupted in a mouse model. In this study, we have characterized MAGEL2 (also known as NDNL1), a gene with 51% amino acid sequence similarity to necdin and located 41 kb distal to NDN in the PWS deletion region. MAGEL2 is expressed predominantly in brain, the primary tissue affected in PWS and in several fetal tissues as shown by northern blot analysis. MAGEL2 is imprinted with monoallelic expression in control brain, and paternal-only expression in the central nervous system as demonstrated by its lack of expression in brain from a PWS-affected individual. The orthologous mouse gene (Magel2) is located within 150 kb of Ndn, is imprinted with paternal-only expression and is expressed predominantly in late developmental stages and adult brain as shown by northern blotting, RT–PCR and whole-mount RNA in situ hybridization. Magel2 distribution partially overlaps that of Ndn, with strong expression being detected in the central nervous system in mid-gestation mouse embryos by in situ hybridization. We hypothesize that, although loss of necdin expression may be important in the neonatal presentation of PWS, loss of MAGEL2 may be critical to abnormalities in brain development and dysmorphic features in individuals with PWS.

+ To whom correspondence should be addressed. Tel: +1 780 492 7908; Fax: +1 780 4921998; Email: rachel.wevrick@ualberta.ca


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