Current challenges in understanding the role of enhancers in disease

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Current challenges in understanding the role of enhancers in disease. / Zaugg, Judith Barbara; Sahlén, Pelin; Andersson, Robin; Alberich-Jorda, Meritxell; de Laat, Wouter; Deplancke, Bart; Ferrer, Jorge; Mandrup, Susanne; Natoli, Gioacchino; Plewczynski, Dariusz; Rada-Iglesias, Alvaro; Spicuglia, Salvatore.

In: Nature Structural and Molecular Biology, Vol. 29, No. 12, 2022, p. 1148-1158.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Zaugg, JB, Sahlén, P, Andersson, R, Alberich-Jorda, M, de Laat, W, Deplancke, B, Ferrer, J, Mandrup, S, Natoli, G, Plewczynski, D, Rada-Iglesias, A & Spicuglia, S 2022, 'Current challenges in understanding the role of enhancers in disease', Nature Structural and Molecular Biology, vol. 29, no. 12, pp. 1148-1158. https://doi.org/10.1038/s41594-022-00896-3

APA

Zaugg, J. B., Sahlén, P., Andersson, R., Alberich-Jorda, M., de Laat, W., Deplancke, B., Ferrer, J., Mandrup, S., Natoli, G., Plewczynski, D., Rada-Iglesias, A., & Spicuglia, S. (2022). Current challenges in understanding the role of enhancers in disease. Nature Structural and Molecular Biology, 29(12), 1148-1158. https://doi.org/10.1038/s41594-022-00896-3

Vancouver

Zaugg JB, Sahlén P, Andersson R, Alberich-Jorda M, de Laat W, Deplancke B et al. Current challenges in understanding the role of enhancers in disease. Nature Structural and Molecular Biology. 2022;29(12):1148-1158. https://doi.org/10.1038/s41594-022-00896-3

Author

Zaugg, Judith Barbara ; Sahlén, Pelin ; Andersson, Robin ; Alberich-Jorda, Meritxell ; de Laat, Wouter ; Deplancke, Bart ; Ferrer, Jorge ; Mandrup, Susanne ; Natoli, Gioacchino ; Plewczynski, Dariusz ; Rada-Iglesias, Alvaro ; Spicuglia, Salvatore. / Current challenges in understanding the role of enhancers in disease. In: Nature Structural and Molecular Biology. 2022 ; Vol. 29, No. 12. pp. 1148-1158.

Bibtex

@article{14554c000fee42689f223a669cc71283,
title = "Current challenges in understanding the role of enhancers in disease",
abstract = "Enhancers play a central role in the spatiotemporal control of gene expression and tend to work in a cell-type-specific manner. In addition, they are suggested to be major contributors to phenotypic variation, evolution and disease. There is growing evidence that enhancer dysfunction due to genetic, structural or epigenetic mechanisms contributes to a broad range of human diseases referred to as enhanceropathies. Such mechanisms often underlie the susceptibility to common diseases, but can also play a direct causal role in cancer or Mendelian diseases. Despite the recent gain of insights into enhancer biology and function, we still have a limited ability to predict how enhancer dysfunction impacts gene expression. Here we discuss the major challenges that need to be overcome when studying the role of enhancers in disease etiology and highlight opportunities and directions for future studies, aiming to disentangle the molecular basis of enhanceropathies.",
author = "Zaugg, {Judith Barbara} and Pelin Sahl{\'e}n and Robin Andersson and Meritxell Alberich-Jorda and {de Laat}, Wouter and Bart Deplancke and Jorge Ferrer and Susanne Mandrup and Gioacchino Natoli and Dariusz Plewczynski and Alvaro Rada-Iglesias and Salvatore Spicuglia",
note = "Publisher Copyright: {\textcopyright} 2022, Springer Nature America, Inc.",
year = "2022",
doi = "10.1038/s41594-022-00896-3",
language = "English",
volume = "29",
pages = "1148--1158",
journal = "Nature Structural and Molecular Biology",
issn = "1545-9993",
publisher = "nature publishing group",
number = "12",

}

RIS

TY - JOUR

T1 - Current challenges in understanding the role of enhancers in disease

AU - Zaugg, Judith Barbara

AU - Sahlén, Pelin

AU - Andersson, Robin

AU - Alberich-Jorda, Meritxell

AU - de Laat, Wouter

AU - Deplancke, Bart

AU - Ferrer, Jorge

AU - Mandrup, Susanne

AU - Natoli, Gioacchino

AU - Plewczynski, Dariusz

AU - Rada-Iglesias, Alvaro

AU - Spicuglia, Salvatore

N1 - Publisher Copyright: © 2022, Springer Nature America, Inc.

PY - 2022

Y1 - 2022

N2 - Enhancers play a central role in the spatiotemporal control of gene expression and tend to work in a cell-type-specific manner. In addition, they are suggested to be major contributors to phenotypic variation, evolution and disease. There is growing evidence that enhancer dysfunction due to genetic, structural or epigenetic mechanisms contributes to a broad range of human diseases referred to as enhanceropathies. Such mechanisms often underlie the susceptibility to common diseases, but can also play a direct causal role in cancer or Mendelian diseases. Despite the recent gain of insights into enhancer biology and function, we still have a limited ability to predict how enhancer dysfunction impacts gene expression. Here we discuss the major challenges that need to be overcome when studying the role of enhancers in disease etiology and highlight opportunities and directions for future studies, aiming to disentangle the molecular basis of enhanceropathies.

AB - Enhancers play a central role in the spatiotemporal control of gene expression and tend to work in a cell-type-specific manner. In addition, they are suggested to be major contributors to phenotypic variation, evolution and disease. There is growing evidence that enhancer dysfunction due to genetic, structural or epigenetic mechanisms contributes to a broad range of human diseases referred to as enhanceropathies. Such mechanisms often underlie the susceptibility to common diseases, but can also play a direct causal role in cancer or Mendelian diseases. Despite the recent gain of insights into enhancer biology and function, we still have a limited ability to predict how enhancer dysfunction impacts gene expression. Here we discuss the major challenges that need to be overcome when studying the role of enhancers in disease etiology and highlight opportunities and directions for future studies, aiming to disentangle the molecular basis of enhanceropathies.

U2 - 10.1038/s41594-022-00896-3

DO - 10.1038/s41594-022-00896-3

M3 - Journal article

C2 - 36482255

AN - SCOPUS:85143707069

VL - 29

SP - 1148

EP - 1158

JO - Nature Structural and Molecular Biology

JF - Nature Structural and Molecular Biology

SN - 1545-9993

IS - 12

ER -

ID: 330385591