Genomic imprinting is a rare epigenetic process in mammalian cells that leads to monoallelic expression of a gene with a parent‐specific pattern. The UBE3A (ubiquitin protein ligase E3A) gene is imprinted with maternal allelic expression in the brain but biallelically expressed in all other tissues in humans. The silencing of the paternal UBE3A allele is thought to be caused by the paternally expressed antisense RNA transcript of UBE3A‐ATS. The aberrant imprinted expression of the UBE3A is associated with several neurodevelopmental syndromes and psychological disorders. Cattle are a valuable model species in determining the genetic etiology of sporadic human disorder, and maternal expression of UEB3A has been revealed by next‐generation sequencing study in the bovine conceptus. In this study, we investigated the allelic expression of UBE3A and UBE3A‐ATS in adult bovine somatic tissues. To confirm the splicing pattern of bovine UBE3A, five 5′ alternative transcripts (MT210534–MT210538) were first obtained from bovine brain tissue by RT‐PCR. Based on 10 SNP genotypes, we found that the brain‐specific monoallelic expression of bovine UBE3A did not occur along the entire locus, and there was a shift from biallelic expression to monoallelic expression in exon 14 of the UBE3A gene. However, the brain‐specific monoallelic expression of bovine UBE3A‐ATS occurred in the entire gene. These observations demonstrated that the monoallelic expression did not occur along the bovine UBE3A entire locus and was associated with the genomic position.

中文翻译：

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牛UBE3A的脑特异性单等位基因表达与基因组位置有关

基因组印迹是哺乳动物细胞中罕见的表观遗传过程，可导致具有亲本特异性模式的基因单等位基因表达。的UBE3A（泛素蛋白连接酶E3A）基因印迹与脑中母体等位基因的表达，但在人所有其它组织biallelically表达。父系UBE3A等位基因沉默被认为是由UBE3A-ATS父系表达的反义RNA转录产物引起的。UBE3A的印记表达异常与多种神经发育综合症和心理疾病有关。牛是确定散发性人类疾病的遗传病因和UEB3A母本表达的有价值的模型物种牛概念中的下一代测序研究已经揭示了这一点。在这项研究中，我们调查了成人牛体细胞组织中UBE3A和UBE3A-ATS的等位基因表达。为了确定牛UBE3A的剪接模式，首先通过RT-PCR从牛脑组织中获得了5个5'替代转录本（MT210534–MT210538）。基于10个SNP基因型，我们发现牛UBE3A的脑特异性单等位基因表达并未在整个基因座上发生，并且UBE3A基因的第14外显子从双等位基因表达转变为单等位基因表达。但是，牛UBE3A-ATS的脑特异性单等位基因表达发生在整个基因中。这些观察结果证明，单等位基因表达不是沿着牛UBE3A整个基因座发生，而是与基因组位置有关。