PMID- 10556298
OWN - NLM
STAT- MEDLINE
DCOM- 20000124
LR  - 20190513
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 8
IP  - 13
DP  - 1999 Dec
TI  - The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped
      to the Prader-Willi region.
PG  - 2497-505
AB  - 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.
FAU - Boccaccio, I
AU  - Boccaccio I
AD  - INSERM U491, Faculte de Medecine, 27 Boulevard Jean Moulin, F-13385 Marseille
      Cedex 5, France.
FAU - Glatt-Deeley, H
AU  - Glatt-Deeley H
FAU - Watrin, F
AU  - Watrin F
FAU - Roeckel, N
AU  - Roeckel N
FAU - Lalande, M
AU  - Lalande M
FAU - Muscatelli, F
AU  - Muscatelli F
LA  - eng
SI  - GENBANK/AJ243531
SI  - GENBANK/AJ243608
GR  - NS30628/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (5' Untranslated Regions)
RN  - 0 (Antigens, Neoplasm)
RN  - 0 (MAGEL2 protein, human)
RN  - 0 (Magel2 protein, mouse)
RN  - 0 (Proteins)
SB  - IM
MH  - 5' Untranslated Regions
MH  - Amino Acid Sequence
MH  - Animals
MH  - Antigens, Neoplasm
MH  - Base Sequence
MH  - Brain/metabolism
MH  - *Chromosome Mapping
MH  - Chromosomes, Human, Pair 15
MH  - CpG Islands
MH  - Gene Expression
MH  - Genomic Imprinting
MH  - Humans
MH  - Mice
MH  - Mice, Inbred Strains
MH  - Molecular Sequence Data
MH  - Pedigree
MH  - Prader-Willi Syndrome/*genetics
MH  - Proteins/*genetics/metabolism
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sequence Alignment
MH  - Tandem Repeat Sequences
EDAT- 1999/11/11 00:00
MHDA- 1999/11/11 00:01
CRDT- 1999/11/11 00:00
PHST- 1999/11/11 00:00 [pubmed]
PHST- 1999/11/11 00:01 [medline]
PHST- 1999/11/11 00:00 [entrez]
AID - ddc276 [pii]
AID - 10.1093/hmg/8.13.2497 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1999 Dec;8(13):2497-505. doi: 10.1093/hmg/8.13.2497.