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首页> 外文期刊>Neurogenetics >Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC.
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Atp10a, a gene adjacent to the PWS/AS gene cluster, is not imprinted in mouse and is insensitive to the PWS-IC.

机译：Atp10a，与PWS / AS基因簇相邻的基因，未在小鼠中印记，对PWS-IC不敏感。

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摘要

Mutations affecting a cluster of coordinately regulated imprinted genes located at 15q11-q13 underlie both Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Disruption of the predominately maternally expressed UBE3A locus is sufficient to meet diagnostic criteria for AS. However, AS patients with a deletion of the entire PWS/AS locus often have more severe traits than patients with point mutations in UBE3A suggesting that other genes contribute to the syndrome. ATP10A resides 200 kb telomeric to UBE3A and is of uncertain imprinted status. An initial report indicated bialleleic expression of the murine Atp10a in all tissues, but a subsequent report suggests that Atp10a is predominantly maternally expressed in the hippocampus and olfactory bulb. To resolve this discrepancy, we investigated Atp10a allelic expression in the brain, DNA methylation status, and sensitivity to mutations of the PWS imprinting center, an element required for imprinted gene expression in the region. We report that Atp10a is biallelically expressed in both the newborn and adult brain, and Atp10a allelic expression is insensitive to deletion or mutation of the PWS imprinting center. The CpG island associated with Atp10a is hypomethylated, a result consistent with the notion that Atp10a is not an imprinted gene.
机译：影响位于15q11-q13的协调调控的印迹基因簇的突变是Prader-Willi综合征（PWS）和Angelman综合征（AS）的基础。中断主要由母亲表达的UBE3A基因座足以满足AS的诊断标准。但是，与整个PWS / AS基因座缺失的AS患者相比，UBE3A中具有点突变的患者通常具有更严重的性状，这表明其他基因可导致该综合征。 ATP10A位于UBE3A的200 kb端粒，并且具有不确定的印迹状态。最初的报道表明小鼠Atp10a在所有组织中均等位基因表达，但随后的报道表明Atp10a主要在海马和嗅球中母体表达。为了解决这一差异，我们研究了Atp10a等位基因在大脑中的表达，DNA甲基化状态以及对PWS印迹中心突变的敏感度，PWS印迹中心是该区域印迹基因表达所需的元素。我们报告说，Atp10a在新生儿和成人大脑中都是双等位表达的，并且Atp10a等位基因表达对PWS印迹中心的缺失或突变不敏感。与Atp10a相关的CpG岛被低甲基化，这一结果与Atp10a不是印迹基因的观点相符。

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