Imperial College London
Alternate

ProfessorMichaelSternberg

Faculty of Natural Sciences, Department of Life Sciences

Director, Systems Biology and Bioinformatics Centre
 
 
 
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Contact

 

+44 (0)20 7594 5212m.sternberg Website

 
 
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Location

 

306Sir Ernst Chain BuildingSouth Kensington Campus

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Summary

 

Publications

Citation

BibTex format

@article{Irimia:2014:10.1016/j.cell.2014.11.035,
author = {Irimia, M and Weatheritt, RJ and Ellis, JD and Parikshak, NN and Gonatopoulos-Pournatzis, T and Babor, M and Quesnel-Vallieres, M and Tapial, J and Raj, B and O'Hanlon, D and Barrios-Rodiles, M and Sternberg, MJE and Cordes, SP and Roth, FP and Wrana, JL and Geschwind, DH and Blencowe, BJ},
doi = {10.1016/j.cell.2014.11.035},
journal = {Cell},
pages = {1511--1523},
title = {A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains},
url = {http://dx.doi.org/10.1016/j.cell.2014.11.035},
volume = {159},
year = {2014}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Alternative splicing (AS) generates vast transcriptomicand proteomic complexity. However, whichof the myriad of detected AS events provide importantbiological functions is not well understood.Here, we define the largest program of functionallycoordinated, neural-regulated AS described to datein mammals. Relative to all other types of AS withinthis program, 3-15 nucleotide ‘‘microexons’’ displaythe most striking evolutionary conservation andswitch-like regulation. These microexons modulatethe function of interaction domains of proteinsinvolved in neurogenesis. Most neural microexonsare regulated by the neuronal-specific splicing factornSR100/SRRM4, through its binding to adjacentintronic enhancer motifs. Neural microexons arefrequently misregulated in the brains of individualswith autism spectrum disorder, and this misregulationis associated with reduced levels of nSR100.The results thus reveal a highly conserved programof dynamic microexon regulation associated withthe remodeling of protein-interaction networks duringneurogenesis, the misregulation of which islinked to autism.
AU  - Irimia,M
AU  - Weatheritt,RJ
AU  - Ellis,JD
AU  - Parikshak,NN
AU  - Gonatopoulos-Pournatzis,T
AU  - Babor,M
AU  - Quesnel-Vallieres,M
AU  - Tapial,J
AU  - Raj,B
AU  - O'Hanlon,D
AU  - Barrios-Rodiles,M
AU  - Sternberg,MJE
AU  - Cordes,SP
AU  - Roth,FP
AU  - Wrana,JL
AU  - Geschwind,DH
AU  - Blencowe,BJ
DO  - 10.1016/j.cell.2014.11.035
EP  - 1523
PY  - 2014///
SN  - 0092-8674
SP  - 1511
TI  - A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains
T2  - Cell
UR  - http://dx.doi.org/10.1016/j.cell.2014.11.035
UR  - http://hdl.handle.net/10044/1/23325
VL  - 159
ER  -
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