Imperial College London
Alternate

ProfessorMatthiasMerkenschlager

Faculty of Medicine, Institute of Clinical Sciences

Professor of Cell Biology
 
 
 
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Contact

 

+44 (0)20 3313 8239matthias.merkenschlager

 
 
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Location

 

5.11DLMS BuildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Weiss:2021:10.1038/s41467-021-23141-9,
author = {Weiss, FD and Calderon, L and Wang, Y-F and Georgieva, R and Guo, Y and Cvetesic, N and Kaur, M and Dharmalingam, G and Krantz, ID and Lenhard, B and Fisher, A and Merkenschlager, M},
doi = {10.1038/s41467-021-23141-9},
journal = {Nature Communications},
title = {Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and reexpression of cohesin},
url = {http://dx.doi.org/10.1038/s41467-021-23141-9},
volume = {12},
year = {2021}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Cornelia de Lange Syndrome (CdLS) is a human developmental disorder caused by mutations that compromise the function of cohesin, a major regulator of 3D genome organization. Cognitive impairment is a universal and as yet unexplained feature of CdLS. We characterize the transcriptional profile of cortical neurons from CdLS patients and find deregulation of hundreds of genes enriched for neuronal functions related to synaptic transmission, signalling processes, learning and behaviour. Inducible proteolytic cleavage of cohesin disrupts 3D genome organization and transcriptional control in post-mitotic cortical mouse neurons, demonstrating that cohesin is continuously required for neuronal gene expression. The genes affected by acute depletion of cohesin belong to similar gene ontology classes and show significant numerical overlap with genes deregulated in CdLS. Interestingly, reconstitution of cohesin function largely rescues altered gene expression, including the expression of genes deregulated in CdLS.
AU  - Weiss,FD
AU  - Calderon,L
AU  - Wang,Y-F
AU  - Georgieva,R
AU  - Guo,Y
AU  - Cvetesic,N
AU  - Kaur,M
AU  - Dharmalingam,G
AU  - Krantz,ID
AU  - Lenhard,B
AU  - Fisher,A
AU  - Merkenschlager,M
DO  - 10.1038/s41467-021-23141-9
PY  - 2021///
SN  - 2041-1723
TI  - Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and reexpression of cohesin
T2  - Nature Communications
UR  - http://dx.doi.org/10.1038/s41467-021-23141-9
UR  - http://hdl.handle.net/10044/1/89439
VL  - 12
ER  -
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