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小鼠中的长散在重复序列:特征、家族及其在早期发育中的潜在作用。

LINEs in mice: features, families, and potential roles in early development.

作者信息

Jachowicz Joanna W, Torres-Padilla Maria-Elena

机构信息

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM U964, Université de Strasbourg, 67404, Illkirch, France.

出版信息

Chromosoma. 2016 Mar;125(1):29-39. doi: 10.1007/s00412-015-0520-2. Epub 2015 May 16.

DOI:10.1007/s00412-015-0520-2
PMID:25975894
Abstract

Approximately half of the mammalian genome is composed of repetitive elements, including LINE-1 (L1) elements. Because of their potential ability to transpose and integrate into other regions of the genome, their activation represents a threat to genome stability. Molecular pathways have emerged to tightly regulate and repress their transcriptional activity, including DNA methylation, histone modifications, and RNA pathways. It has become evident that Line-L1 elements are evolutionary diverse and dedicated repression pathways have been recently uncovered that discriminate between evolutionary old and young elements, with RNA-directed silencing mechanisms playing a prominent role. During periods of epigenetic reprogramming in development, specific classes of repetitive elements are upregulated, presumably due to the loss of most heterochromatic marks in this process. While we have learnt a lot on the molecular mechanisms that regulate Line-L1 expression over the last years, it is still unclear whether reactivation of Line-L1 after fertilization serves a functional purpose or it is a simple side effect of reprogramming.

摘要

大约一半的哺乳动物基因组由重复元件组成,包括1型长散在核元件(LINE-1,L1)。由于它们具有转座并整合到基因组其他区域的潜在能力,其激活对基因组稳定性构成威胁。已经出现了一些分子途径来严格调控和抑制它们的转录活性,包括DNA甲基化、组蛋白修饰和RNA途径。很明显,L1元件在进化上是多样的,最近发现了专门的抑制途径,可区分进化上古老和年轻的元件,其中RNA定向沉默机制发挥着重要作用。在发育过程中的表观遗传重编程期间,特定类别的重复元件会上调,这可能是由于在此过程中大多数异染色质标记的丢失。虽然在过去几年里我们对调控L1表达的分子机制了解很多,但受精后L1的重新激活是具有功能目的还是仅仅是重编程的一个简单副作用仍不清楚。

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Piwi proteins and piRNAs in mammalian oocytes and early embryos.Piwi 蛋白和 piRNA 在哺乳动物卵母细胞和早期胚胎中的作用。
Cell Rep. 2015 Mar 31;10(12):2069-82. doi: 10.1016/j.celrep.2015.02.062. Epub 2015 Mar 26.
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Roles of intragenic and intergenic L1s in mouse and human.基因内和基因间L1元件在小鼠和人类中的作用。
PLoS One. 2014 Nov 19;9(11):e113434. doi: 10.1371/journal.pone.0113434. eCollection 2014.
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G9a co-suppresses LINE1 elements in spermatogonia.G9a 在精原细胞中共同抑制 LINE1 元件。
Natl Sci Rev. 2024 Dec 17;12(1):nwae407. doi: 10.1093/nsr/nwae407. eCollection 2025 Jan.
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Into the Wild: A novel wild-derived inbred strain resource expands the genomic and phenotypic diversity of laboratory mouse models.《回归荒野:一种新的野生来源近交系资源扩展了实验室小鼠模型的基因组和表型多样性》
PLoS Genet. 2024 Apr 10;20(4):e1011228. doi: 10.1371/journal.pgen.1011228. eCollection 2024 Apr.
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Jump-starting life: balancing transposable element co-option and genome integrity in the developing mammalian embryo.启动生命:平衡转座元件的共适应和发育中哺乳动物胚胎的基因组完整性。
EMBO Rep. 2024 Apr;25(4):1721-1733. doi: 10.1038/s44319-024-00118-5. Epub 2024 Mar 25.
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Genetica. 2023 Jun;151(3):179-199. doi: 10.1007/s10709-023-00183-z. Epub 2023 Mar 4.
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SoloTE for improved analysis of transposable elements in single-cell RNA-Seq data using locus-specific expression.利用基因座特异性表达提高单细胞 RNA-Seq 数据中转座元件分析的 SoloTE
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4
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