دورية أكاديمية
A promoter interaction map for cardiovascular disease genetics
| العنوان: | A promoter interaction map for cardiovascular disease genetics |
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| المؤلفون: | Lindsey E Montefiori, Debora R Sobreira, Noboru J Sakabe, Ivy Aneas, Amelia C Joslin, Grace T Hansen, Grazyna Bozek, Ivan P Moskowitz, Elizabeth M McNally, Marcelo A Nóbrega |
| المصدر: | eLife, Vol 7 (2018) |
| بيانات النشر: | eLife Sciences Publications Ltd, 2018. |
| سنة النشر: | 2018 |
| المجموعة: | LCC:Medicine LCC:Science LCC:Biology (General) |
| مصطلحات موضوعية: | capture Hi-C, cardiomyocytes, GWAS, gene regulation, cardiovascular disease, Medicine, Science, Biology (General), QH301-705.5 |
| الوصف: | Over 500 genetic loci have been associated with risk of cardiovascular diseases (CVDs); however, most loci are located in gene-distal non-coding regions and their target genes are not known. Here, we generated high-resolution promoter capture Hi-C (PCHi-C) maps in human induced pluripotent stem cells (iPSCs) and iPSC-derived cardiomyocytes (CMs) to provide a resource for identifying and prioritizing the functional targets of CVD associations. We validate these maps by demonstrating that promoters preferentially contact distal sequences enriched for tissue-specific transcription factor motifs and are enriched for chromatin marks that correlate with dynamic changes in gene expression. Using the CM PCHi-C map, we linked 1999 CVD-associated SNPs to 347 target genes. Remarkably, more than 90% of SNP-target gene interactions did not involve the nearest gene, while 40% of SNPs interacted with at least two genes, demonstrating the importance of considering long-range chromatin interactions when interpreting functional targets of disease loci. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2050-084X |
| العلاقة: | https://elifesciences.org/articles/35788Test; https://doaj.org/toc/2050-084XTest |
| DOI: | 10.7554/eLife.35788 |
| الوصول الحر: | https://doaj.org/article/074cffa7559f4a5c8b6225ec57ffee68Test |
| رقم الانضمام: | edsdoj.074cffa7559f4a5c8b6225ec57ffee68 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 2050084X |
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| DOI: | 10.7554/eLife.35788 |