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首页> 外文期刊>Molecular and Cellular Biology >A Novel Variant of Inpp5f Is Imprinted in Brain, and Its Expression Is Correlated with Differential Methylation of an Internal CpG Island
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A Novel Variant of Inpp5f Is Imprinted in Brain, and Its Expression Is Correlated with Differential Methylation of an Internal CpG Island

机译：Inpp5f的新型变体印在大脑中，其表达与内部CpG岛的甲基化差异相关。

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Using a tissue-specific microarray screen in combination with chromosome anomalies in the mouse, we identified a novel imprinted gene, Inpp5f_v2 on mouse chromosome 7. Characterization of this gene reveals a 3.2-kb transcript that is paternally expressed in the brain. Inpp5f_v2 is a variant of the related 4.7-kb transcript, Inpp5f, an inositol phosphatase gene that is biallelically expressed in the mouse. Inpp5f_v2 uses an alternative transcriptional start site within an intron of Inpp5f and thus has a unique alternative first exon. Whereas other imprinted transcripts have a unique first exon located within intron 1 of a longer transcript variant (such as at the Gnas and WT1 loci), Inpp5f_v2 is the first example of which we are aware in which the alternative first exon of an imprinted gene is embedded in a downstream intron (intron 15) of a transcript variant. The CpG island associated with the nonimprinted Inpp5f gene is hypomethylated on both alleles, a finding consistent with biallelic expression, whereas the CpG island present 5′ of Inpp5f_v2 is differentially methylated on the maternal versus paternal alleles consistent with its imprinting status.
机译：使用组织特异性微阵列屏幕结合小鼠染色体异常，我们在小鼠染色体7上鉴定了一个新的印迹基因 Inpp5f_v2 。该基因的特征揭示了一个父系表达的3.2kb转录本在大脑中。 Inpp5f_v2 是相关4.7-kb转录物 Inpp5f 的变体，该基因是在小鼠中双等位表达的肌醇磷酸酶基因。 Inpp5f_v2 使用 Inpp5f 内含子内的替代转录起始位点，因此具有独特的替代第一外显子。而其他印迹转录物在更长的转录物变体（例如在 Gnas 和 WT1 位点）的内含子1内有一个独特的第一外显子，而 Inpp5f_v2 是我们知道的第一个例子，其中印迹基因的替代性第一个外显子嵌入转录物变体的下游内含子（内含子15）中。与未印迹的 Inpp5f 基因相关的CpG岛在两个等位基因上均被低甲基化，这一发现与双等位基因表达一致，而在 Inpp5f_v2 的5'端存在的CpG岛在甲基化上差异甲基化。母本与父本等位基因与其印记状态一致。

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