%0 Journal Article
%T A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues
%A Thea K Chibuk
%A Jocelyn M Bischof
%A Rachel Wevrick
%J BMC Genetics
%D 2001
%I BioMed Central
%R 10.1186/1471-2156-2-22
%X 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.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.Human chromosome 15q is prone to cytogenetic rearrangements, in part due to repetitive elements located therein [1,2]. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two neurodevelopmental disorders caused by deletions of 15q11-q13, and neurodevelopmental abnormalities are associated with supernumerary chromosomes derived from inverted duplications of 15q [3]. In addition, an autistic disorder susceptibility locus has been localized to proximal 15q by linkage and association studies [4,5]. AS is associated with UBE3A mutations [6,7]. Strong candidates for PWS have recently emerged and are likely to have an additive effect in causing this disorder [8-12]. In particular, two members of the NDN/MAGE gene family, NDN and MAGEL2, are located in the PWS deletion region and are inactivated in individuals with PWS [8,11-14]. Respiratory and behavioral abnormalities in a mouse deleted for Ndn, the murine orthologue of NDN, may suggest that NDN is implicated in the PWS phenotype [15,16]. We have therefore investigated the possibility that other NDN/MAGE genes may also be present on proximal 15q and may be involved in neurodevelopmental disorders. Indeed, we identified a
%U http://www.biomedcentral.com/1471-2156/2/22