Genome-wide compendium and functional assessment of in vivo heart enhancers

被引：71

作者：

Dickel, Diane E. ^{[1
]}

Barozzi, Iros ^{[1
]}

Zhu, Yiwen ^{[1
]}

Fukuda-Yuzawa, Yoko ^{[1
]}

Osterwalder, Marco ^{[1
]}

Mannion, Brandon J. ^{[1
]}

May, Dalit ^{[1
,6
]}

Spurrell, Cailyn H. ^{[1
]}

Plajzer-Frick, Ingrid ^{[1
]}

Pickle, Catherine S. ^{[1
]}

Lee, Elizabeth ^{[1
]}

Garvin, Tyler H. ^{[1
]}

Kato, Momoe ^{[1
]}

Akiyama, Jennifer A. ^{[1
]}

Afzal, Veena ^{[1
]}

Lee, Ah Young ^{[2
]}

Gorkin, David U. ^{[2
]}

Ren, Bing ^{[2
,3
]}

Rubin, Edward M. ^{[1
,4
]}

Visel, Axel ^{[1
,4
,5
]}

Pennacchio, Len A. ^{[1
,4
]}

机构：

[1] Lawrence Berkeley Natl Lab, Funct Genom Dept, 1 Cyclotron Rd, Berkeley, CA 94720 USA

[2] Ludwig Inst Canc Res, 9500 Gilman Dr, La Jolla, CA 92093 USA

[3] Univ Calif San Diego, Sch Med, Dept Cellular & Mol Med, La Jolla, CA 92093 USA

[4] US DOE, Joint Genome Inst, Walnut Creek, CA 94598 USA

[5] Univ Calif Merced, Sch Nat Sci, Merced, CA 95343 USA

[6] Hebrew Univ Jerusalem, Hadassah Med Sch, Dept Family Med, Clalit Hlth Serv, IL-91120 Jerusalem, Israel

来源：

NATURE COMMUNICATIONS | 2016年 / 7卷

基金：

美国国家卫生研究院; 瑞士国家科学基金会;

关键词：

TRANSCRIPTION FACTORS; GENE-EXPRESSION; HISTONE MODIFICATIONS; REGULATORY ELEMENTS; SUSCEPTIBILITY LOCI; IDENTIFICATION; DATABASE; MOUSE; DISEASE; LOCALIZATION;

D O I：

10.1038/ncomms12923

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Whole-genome sequencing is identifying growing numbers of non-coding variants in human disease studies, but the lack of accurate functional annotations prevents their interpretation. We describe the genome-wide landscape of distant-acting enhancers active in the developing and adult human heart, an organ whose impairment is a predominant cause of mortality and morbidity. Using integrative analysis of >35 epigenomic data sets from mouse and human pre- and postnatal hearts we created a comprehensive reference of >80,000 putative human heart enhancers. To illustrate the importance of enhancers in the regulation of genes involved in heart disease, we deleted the mouse orthologs of two human enhancers near cardiac myosin genes. In both cases, we observe in vivo expression changes and cardiac phenotypes consistent with human heart disease. Our study provides a comprehensive catalogue of human heart enhancers for use in clinical whole-genome sequencing studies and highlights the importance of enhancers for cardiac function.

引用

页数：13

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