Latent Regulatory Potential of Human-Specific Repetitive Elements

详细信息    查看全文

• 作者：Michelle C. Ward¹ ; ⁵ ; Michael D. Wilson¹ ; ⁵ ; ⁶ ; ^{michael.wilson@sickkids.ca} ; Nuno L. Barbosa-Morais² ; Dominic Schmidt¹ ; Rory Stark¹ ; Qun Pan² ; Petra C. Schwalie³ ; Suraj Menon¹ ; Margus Lukk¹ ; Stephen Watt¹ ; David Thybert³ ; Claudia Kutter¹ ; Kristina Kirschner¹ ; Paul Flicek³ ; ⁴ ; Benjamin J. Blencowe² ; Duncan T. Odom¹ ; ⁴ ; ^{duncan.odom@cruk.cam.ac.uk}
• 刊名：Molecular Cell
• 出版年：2013
• 出版时间：24 January, 2013
• 年：2013
• 卷：49
• 期：2
• 页码：262-272
• 全文大小：1225 K

文摘

| Figures/TablesFigures/Tables | ReferencesReferences

Summary

At least half of the human genome is derived from repetitive elements, which are often lineage specific and silenced by a variety of genetic and epigenetic mechanisms. Using a transchromosomic mouse strain that transmits an almost complete single copy of human chromosome 21 via the female germline, we show that a heterologous regulatory environment can transcriptionally activate transposon-derived human regulatory regions. In the mouse nucleus, hundreds of locations on human chromosome 21 newly associate with activating histone modifications in both somatic and germline tissues, and influence the gene expression of nearby transcripts. These regions are enriched with primate and human lineage-specific transposable elements, and their activation corresponds to changes in DNA methylation at CpG dinucleotides. This study reveals the latent regulatory potential of the repetitive human genome and illustrates the species specificity of mechanisms that control it.