Melanoma Antigen Like Protein 2 (MAGEL2)

MAGEL2 encodes a 529-amino acid protein with 51% sequence similarity to necdin (NDN). MAGEL2 transcript is expressed predominantly in brain, the primary tissue affected in PWS, and in several fetal tissues. MAGEL2 is imprinted with monoallelic expression in control brain, and with 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 imprinted with paternal-only expression, and is expressed predominantly in late developmental stages and adult brain as shown by Northern blot analysis, 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 midgestation mouse embryos by in situ hybridization.