Imperial College London
Dr Ines Cebola

DrInesCebola

Faculty of Medicine, Department of Metabolism, Digestion and Reproduction

Senior Lecturer in Regulatory Genomics
 
 
 
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Contact

 

i.dos-santos-cebola Website

 
 
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Location

 

535ICTEM buildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@unpublished{Miguel-Escalada:2018:10.1101/400291,
author = {Miguel-Escalada, I and Bonàs-Guarch, S and Cebola, I and Joan, P-C and Mendieta-Esteban, J and Rolando, DMY and Javierre, B and Atla, G and Farabella, I and Morgan, C and García-Hurtado, J and Beucher, A and Morán, I and Pasquali, L and Ramos, M and Appel, EVR and Linneberg, A and Gjesing, A and Witte, D and Pedersen, O and Grarup, N and Ravassard, P and Torrents, D and Mercader, JM and Piemonti, L and Berney, T and Koning, de EJP and Kerr-Conte, J and Pattou, F and Fedko, I and Prokopenko, I and Hansen, T and Marti-Renom, M and Fraser, P and Ferrer, J},
doi = {10.1101/400291},
title = {Human pancreatic islet 3D chromatin architecture provides insights into the genetics of type 2 diabetes},
url = {http://dx.doi.org/10.1101/400291},
year = {2018}
}
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RIS format (EndNote, RefMan)

TY  - UNPB
AB  - Genetic studies promise to provide insight into the molecular mechanisms underlying type 2 diabetes (T2D). Variants associated with T2D are often located in tissue-specific enhancer regions (enhancer clusters, stretch enhancers or super-enhancers). So far, such domains have been defined through clustering of enhancers in linear genome maps rather than in 3D-space. Furthermore, their target genes are generally unknown. We have now created promoter capture Hi-C maps in human pancreatic islets. This linked diabetes-associated enhancers with their target genes, often located hundreds of kilobases away. It further revealed sets of islet enhancers, super-enhancers and active promoters that form 3D higher-order hubs, some of which show coordinated glucose-dependent activity. Hub genetic variants impact the heritability of insulin secretion, and help identify individuals in whom genetic variation of islet function is important for T2D. Human islet 3D chromatin architecture thus provides a framework for interpretation of T2D GWAS signals.
AU  - Miguel-Escalada,I
AU  - Bonàs-Guarch,S
AU  - Cebola,I
AU  - Joan,P-C
AU  - Mendieta-Esteban,J
AU  - Rolando,DMY
AU  - Javierre,B
AU  - Atla,G
AU  - Farabella,I
AU  - Morgan,C
AU  - García-Hurtado,J
AU  - Beucher,A
AU  - Morán,I
AU  - Pasquali,L
AU  - Ramos,M
AU  - Appel,EVR
AU  - Linneberg,A
AU  - Gjesing,A
AU  - Witte,D
AU  - Pedersen,O
AU  - Grarup,N
AU  - Ravassard,P
AU  - Torrents,D
AU  - Mercader,JM
AU  - Piemonti,L
AU  - Berney,T
AU  - Koning,de EJP
AU  - Kerr-Conte,J
AU  - Pattou,F
AU  - Fedko,I
AU  - Prokopenko,I
AU  - Hansen,T
AU  - Marti-Renom,M
AU  - Fraser,P
AU  - Ferrer,J
DO  - 10.1101/400291
PY  - 2018///
TI  - Human pancreatic islet 3D chromatin architecture provides insights into the genetics of type 2 diabetes
UR  - http://dx.doi.org/10.1101/400291
UR  - http://hdl.handle.net/10044/1/71196
ER  -
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