cothec / brat4ref

The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region.
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 . .