Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci-Reference-Cited by-同舟云学术

Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci

Published:2018-09-28 Issue:6409 Volume:361 Page:
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Onuchic Vitor¹²³⁴^ORCID,Lurie Eugene¹³⁴^ORCID,Carrero Ivenise¹³^ORCID,Pawliczek Piotr¹³,Patel Ronak Y.¹³^ORCID,Rozowsky Joel⁵⁶^ORCID,Galeev Timur⁵⁶^ORCID,Huang Zhuoyi¹⁷^ORCID,Altshuler Robert C.⁴⁸⁹,Zhang Zhizhuo⁸⁹^ORCID,Harris R. Alan¹³⁴,Coarfa Cristian¹³⁴^ORCID,Ashmore Lillian¹²³^ORCID,Bertol Jessica W.¹⁰,Fakhouri Walid D.¹⁰,Yu Fuli¹²⁷,Kellis Manolis⁴⁸⁹,Gerstein Mark⁵⁶^ORCID,Milosavljevic Aleksandar¹²³⁴^ORCID

Affiliation:

1. Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.

2. Program in Quantitative and Computational Biosciences, Baylor College of Medicine, Houston, TX, USA.

3. Epigenome Center, Baylor College of Medicine, Houston, TX, USA.

4. NIH Roadmap Epigenomics Project.

5. Program in Computational Biology and Bioinformatics, Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.

6. Department of Computer Science, Yale University, New Haven, CT, USA.

7. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.

8. Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.

9. Broad Institute of Harvard University and Massachusetts Institute of Technology, Cambridge, MA, USA.

10. Center for Craniofacial Research, Department of Diagnostic and Biomedical Sciences, School of Dentistry, University of Texas Health Science Center at Houston, Houston, TX, USA.

Abstract

Dissecting the epigenomic footprint Genome-wide epigenetic marks regulate gene expression, but the amount and function of variability in these marks are poorly understood. Working with human-derived samples, Onuchic et al. examined disease-associated genetic variation and sequence-dependent allele-specific methylation at gene regulatory loci. Regulatory sequences within individual chromosomal DNA molecules showed full or no methylation at specific sites corresponding to “on” and “off” switches. Interestingly, methylation did not occur on each DNA molecule, resulting in a variable fraction of methylated chromosomes. This stochastic type of gene regulation was more common for rare genetic variants, which may suggest a role in human disease. Science , this issue p. eaar3146

Funder

NIH Office of the Director

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference77 articles.

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