Human Molecular Genetics, Vol 8, 2497-2505, Copyright © 1999 by Oxford University Press
I Boccaccio, H Glatt-Deeley, F Watrin, N Ro#ckel, M Lalande and F Muscatelli
Prader-Willi syndrome (PWS) is a complex neurogenetic disorder. The
phenotype is likely to be a contiguous gene syndrome involving genes which
are paternally expressed only, located in the human 15q11-q13 region. Four
mouse models of PWS have been reported but these do not definitively allow
the delineation of the critical region and the associated genes involved in
the aetiology of PWS. Moreover, targeted mutagenesis of mouse homologues of
the human candidate PWS genes does not appear to result in any of the
features of PWS. Therefore, the isolation of new genes in this region
remains crucial for a better understanding of the mole-cular basis of PWS.
In this manuscript, we report the characterization of MAGEL2 and its mouse
homologue Magel2. These are located in the human 15q11-q13 and mouse 7C
regions, in close proximity to NDN / Ndn. By northern blot analysis we did
not detect any expression of MAGEL2 / Magel2 but by RT-PCR analysis,
specific expression was detected in fetal and adult brain and in placenta.
Both genes are intronless with tandem direct repeat sequences contained
within a CpG island in the 5'-untranscribed region. The transcripts encode
putative proteins that are homologous to the MAGE proteins and NDN.
Moreover, MAGEL2 / Magel2 are expressed only from the paternal allele in
brain, suggesting a potential role in the aetiology of PWS and its mouse
model, respectively.
ARTICLES
The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region
INSERM U491, Facult# de M#decine, 27 Boulevard Jean Moulin, F-13385 Marseille Cedex 5, France and
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