The imprinted retrotransposon-like gene PEG11 (RTL1) is expressed as a full-length protein in skeletal muscle from Callipyge sheep.
The imprinted retrotransposon-like gene PEG11 (RTL1) is expressed as a full-length protein in skeletal muscle from Callipyge sheep.
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DOI：
10.1371/journal.pone.0008638
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发表时间：
2010-01-08
期刊：
影响因子：
3.7
通讯作者：
Tellam RL
中科院分区：
文献类型：
--
作者：
Byrne K;Colgrave ML;Vuocolo T;Pearson R;Bidwell CA;Cockett NE;Lynn DJ;Fleming-Waddell JN;Tellam RL
Ty 3-Gypsy反转录转座子家族的成员在哺乳动物基因组中是罕见的，尽管它们在无脊椎动物和一些脊椎动物中丰富。这些元件含有逆转录病毒特有的gag-pol样结构，但已失去逆转录转座进入哺乳动物基因组的能力，被认为是古代逆转录转座事件的非活性遗迹。这些逆转录转座子样元件之一，PEG 11（也称为RTL 1）位于绵羊染色体18的远端，在胎盘哺乳动物中高度保守的印记基因簇内。该区域包含几个保守的印迹基因，包括BEGAIN、DLK 1、DAT、GTL 2（MEG 3）、PEG 11（RTL 1）、PEG 11 as、MEG 8、MIRG和DIO 3。DLK 1和GTL 2之间的基因间点突变导致callipyge绵羊肌肉肥大，并与DLK 1和MEG 8之间顺式连锁的基因表达的巨大变化相关。已经表明DLK 1的过表达是callipyge表型的效应子;然而，PEG 11基因表达也与作为基因型、肌肉类型和发育阶段的函数的肌肉化表型的出现强烈相关。到目前为止，还没有直接证据表明PEG 11编码蛋白质，特别是因为其反义转录物（PEG 11 as）含有六种导致PEG 11转录物切割的miRNA。使用免疫学和质谱方法，我们已经直接确定了全长PEG 11蛋白从出生后的核制剂的calipyge骨骼肌，并得出结论，其过度表达可能参与诱导肌肉肥大。PEG 11基因的发育表达模式与在出生后发育期间引起正常胎儿样基因表达程序重演的callipyge突变一致。PEG 11序列的分析表明编码反义microRNA的区域具有很强的保守性，并且在至少两种情况下，这些区域与蛋白质的结构或功能结构域相对应，表明有义和反义基因的共同进化。
Members of the Ty3-Gypsy retrotransposon family are rare in mammalian genomes despite their abundance in invertebrates and some vertebrates. These elements contain a gag-pol-like structure characteristic of retroviruses but have lost their ability to retrotranspose into the mammalian genome and are thought to be inactive relics of ancient retrotransposition events. One of these retrotransposon-like elements, PEG11 (also called RTL1) is located at the distal end of ovine chromosome 18 within an imprinted gene cluster that is highly conserved in placental mammals. The region contains several conserved imprinted genes including BEGAIN, DLK1, DAT, GTL2 (MEG3), PEG11 (RTL1), PEG11as, MEG8, MIRG and DIO3. An intergenic point mutation between DLK1 and GTL2 causes muscle hypertrophy in callipyge sheep and is associated with large changes in expression of the genes linked in cis between DLK1 and MEG8. It has been suggested that over-expression of DLK1 is the effector of the callipyge phenotype; however, PEG11 gene expression is also strongly correlated with the emergence of the muscling phenotype as a function of genotype, muscle type and developmental stage. To date, there has been no direct evidence that PEG11 encodes a protein, especially as its anti-sense transcript (PEG11as) contains six miRNA that cause cleavage of the PEG11 transcript. Using immunological and mass spectrometry approaches we have directly identified the full-length PEG11 protein from postnatal nuclear preparations of callipyge skeletal muscle and conclude that its over-expression may be involved in inducing muscle hypertrophy. The developmental expression pattern of the PEG11 gene is consistent with the callipyge mutation causing recapitulation of the normal fetal-like gene expression program during postnatal development. Analysis of the PEG11 sequence indicates strong conservation of the regions encoding the antisense microRNA and in at least two cases these correspond with structural or functional domains of the protein suggesting co-evolution of the sense and antisense genes.
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影响因子：
30.8
作者：
Charlier, C;Segers, K;Georges, M
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Georges, M
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