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Human Molecular Genetics
Article . 1999 . Peer-reviewed
Data sources: Crossref
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The Human Magel2 Gene and Its Mouse Homologue Are Paternally Expressed and Mapped to the Prader-Willi Region

Authors: I, Boccaccio; H, Glatt-Deeley; F, Watrin; N, Roëckel; M, Lalande; F, Muscatelli;

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.

Keywords

Chromosomes, Human, Pair 15, Base Sequence, Reverse Transcriptase Polymerase Chain Reaction, Molecular Sequence Data, Brain, Chromosome Mapping, Gene Expression, Proteins, Mice, Inbred Strains, Pedigree, Genomic Imprinting, Mice, Antigens, Neoplasm, Animals, Humans, CpG Islands, Amino Acid Sequence, 5' Untranslated Regions, Prader-Willi Syndrome, Sequence Alignment

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
164
Top 10%
Top 10%
Top 1%
bronze