A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues.
BACKGROUND
Proximal chromosome 15q is implicated in neurodevelopmental disorders including Prader-Willi and Angelman syndromes, autistic disorder and developmental abnormalities resulting from chromosomal deletions or duplications. A subset of genes in this region are subject to genomic imprinting, the expression of the gene from only one parental allele.


RESULTS
We have now identified the NDNL2 (also known as MAGE-G) gene within the 15q autistic disorder susceptibility region and have mapped its murine homolog to the region of conserved synteny near necdin (Ndn) on mouse Chr 7. NDNL2/MAGE-G is a member of a large gene family that includes the X-linked MAGE cluster, MAGED1 (NRAGE), MAGEL2 and NDN, where the latter two genes are implicated in Prader-Willi syndrome. We have now determined that NDNL2/Ndnl2 is widely expressed in mouse and human fetal and adult tissues, and that it is apparently not subject to genomic imprinting by the PWS/AS Imprinting Center.


CONCLUSIONS
Although NDNL2/MAGE-G in the broadly defined chromosome 15 autistic disorder susceptibility region, it is not likely to be pathogenic based on its wide expression pattern and lack of imprinted expression.
Chibuk
T K
TK
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. tchibuk@gpu.srv.ualberta.ca
Bischof
J M
JM
Wevrick
R
R
D000595:Amino Acid Sequence; D000818:Animals; D001321:Autistic Disorder / Q000235:genetics; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D020022:Genetic Predisposition to Disease; D018392:Genomic Imprinting; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D051379:Mice; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D014176:Protein Biosynthesis; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000096:biosynthesis; D017386:Sequence Homology, Amino Acid; D026801:Synteny; D014018:Tissue Distribution; D014158:Transcription, Genetic
D047908:Intracellular Signaling Peptides and Proteins; C469927:NSMCE3 protein, human; D009419:Nerve Tissue Proteins; C469928:Nsmce3 protein, mouse; D009687:Nuclear Proteins; D011506:Proteins; D012333:RNA, Messenger; C069766:necdin