Predominant maternal expression of the mouse Atp10c in hippocampus and olfactory bulb
Predominant maternal expression of the mouse Atp10c in hippocampus and olfactory bulb
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DOI：
10.1007/s10038-003-0009-3
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发表时间：
2003-01-01
影响因子：
3.5
通讯作者：
Oshimura, M
中科院分区：
文献类型：
--
作者：
Kashiwagi, A;Meguro, M;Oshimura, M
人类染色体15 q11-q13区域是最有趣的印迹区域之一，遗传的异常与神经系统疾病包括Prader-Willi综合征（PWS）、Angelman综合征（AS）和自闭症相关。最近，我们已经确定了一种新的母系表达的基因，ATP 10 C，编码一个假定的氨基磷脂转位酶在这个关键区域，200 kb远UBE 3A在人类15号染色体上的印记域。一个TP 10 C，与UBE 3A，显示组织特异性印迹与母亲的等位基因在大脑中的主要表达。在这项研究中，我们证明了小鼠同源物，Atp 10 c/pfatp，在海马和嗅球，其中重叠的印迹Ube 3a表达的区域，表现出组织特异性的母体表达。这些数据表明，在特定区域的中枢神经系统Atp 10 c印迹转录可能与神经系统疾病，包括AS和自闭症。
The human chromosome 15q11-q13 region is one of the most intriguing imprinted domains, and the abnormalities inherited are associated with neurological disorders including Prader-Willi syndrome (PWS), Angelman syndrome (AS) and autism. Recently we have identified a novel maternally expressed gene, ATP10C, that encodes a putative aminophospholipid translocase within this critical region, 200 kb distal to UBE3A in an imprinted domain on human chromosome 15. A TP10C, with UBE3A, displayed tissue-specific imprinting with predominant expression of the maternal allele in the brain. In this study, we demonstrated that the mouse homologue, Atp10c/pfatp, showed tissue-specific maternal expression in the hippocampus and olfactory bulb, which overlapped the region of imprinted Ube3a expression. These data suggest that the imprinted transcript of Atp10c in the specific region of CNS may be associated with neurological disorders including AS and autism.