The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region
The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region
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DOI：
10.1093/hmg/8.13.2497
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发表时间：
1999-12-01
影响因子：
3.5
通讯作者：
Muscatelli, F
中科院分区：
文献类型：
--
作者：
Boccaccio, I;Glatt-Deeley, H;Muscatelli, F
Prader-Willi综合征（PWS）是一种复杂的神经遗传性疾病，其表型可能是一种邻近基因综合征，涉及位于人类15 q11-q13区域的仅由父系表达的基因。已经报道了PWS的四种小鼠模型，但是这些模型不能明确地允许描绘参与PWS病因学的关键区域和相关基因。此外，人候选PWS基因的小鼠同源物的靶向诱变似乎不会导致PWS的任何特征。在该区域分离新基因对于更好地理解PWS的分子基础仍然是至关重要的。本文报道了MAGEL 2及其小鼠同源物MAGEL 2的特性，它们位于人15 q11-q13和小鼠7 C区域，与NDN/Ndn非常接近。通过北方印迹分析，我们没有检测到任何MAGEL 2/Magel 2的表达，但是通过RT-PCR分析，在胎儿和成人脑以及胎盘中检测到特异性表达。这些转录本编码与法师蛋白和NDN同源的蛋白质。此外，MAGEL 2/Magel 2仅在脑中由父系等位基因表达，分别表明在PWS及其小鼠模型的病因学中的潜在作用。
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.