title: The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.
abstract: 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 molecular 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.
authors.affiliation: INSERM U491, Faculté de Médecine, 27 Boulevard Jean Moulin, F-13385 Marseille Cedex 5, France.
authors.forename: I
authors.initials: I
authors.lastname: Boccaccio
authors.forename: H
authors.initials: H
authors.lastname: Glatt-Deeley
authors.forename: F
authors.initials: F
authors.lastname: Watrin
authors.forename: N
authors.initials: N
authors.lastname: Roëckel
authors.forename: M
authors.initials: M
authors.lastname: Lalande
authors.forename: F
authors.initials: F
authors.lastname: Muscatelli
mesh_terms: D020121:5' Untranslated Regions; D000595:Amino Acid Sequence; D000818:Animals; D000951:Antigens, Neoplasm; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D018899:CpG Islands; D015870:Gene Expression; D018392:Genomic Imprinting; D006801:Humans; D051379:Mice; D008815:Mice, Inbred Strains; D008969:Molecular Sequence Data; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000235:genetics*; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016415:Sequence Alignment; D020080:Tandem Repeat Sequences; D047908:Intracellular Signaling Peptides and Proteins; D064267:Intrinsically Disordered Proteins
chemical_list: D020121:5' Untranslated Regions; D000951:Antigens, Neoplasm; D011506:Proteins; C510822:MAGEL2 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D064267:Intrinsically Disordered Proteins; C403091:Magel2 protein, mouse