Search: onr:"swepub:oai:DiVA.org:kth-178104" >
Integrative analysi...
Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation
-
Wang, Yongbo (author)
-
Gogol-Döring, Andreas (author)
-
Hu, Hao (author)
-
show more...
-
Fröhler, Sebastian (author)
-
Ma, Yunxia (author)
-
Jens, Marvin (author)
-
- Maaskola, Jonas (author)
- Berlin Institute for Medical Systems Biology, Max‐Delbrueck‐Center for Molecular Medicine, Berlin, Germany
-
Murakawa, Yasuhiro (author)
-
Quedenau, Claudia (author)
-
Landthaler, Markus (author)
-
Kalscheuer, Vera (author)
-
Wieczorek, Dagmar (author)
-
Wang, Yang (author)
-
Hu, Yuhui (author)
-
Chen, Wei (author)
-
show less...
-
(creator_code:org_t)
- 2013-08-22
- 2013
- English.
-
In: EMBO Molecular Medicine. - : EMBO. - 1757-4676 .- 1757-4684. ; 5:9
- Related links:
-
https://doi.org/10.1...
-
show more...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
show less...
Abstract
Subject headings
Close
- RBM10 encodes an RNA binding protein. Mutations in RBM10 are known to cause multiple congenital anomaly syndrome in male humans, the TARP syndrome. However, the molecular function of RBM10 is unknown. Here we used PAR-CLIP to identify thousands of binding sites of RBM10 and observed significant RBM10-RNA interactions in the vicinity of splice sites. Computational analyses of binding sites as well as loss-of-function and gain-of-function experiments provided evidence for the function of RBM10 in regulating exon skipping and suggested an underlying mechanistic model, which could be subsequently validated by minigene experiments. Furthermore, we demonstrated the splicing defects in a patient carrying an RBM10 mutation, which could be explained by disrupted function of RBM10 in splicing regulation. Overall, our study established RBM10 as an important regulator of alternative splicing, presented a mechanistic model for RBM10-mediated splicing regulation and provided a molecular link to understanding a human congenital disorder.
Subject headings
- NATURVETENSKAP -- Biologi -- Bioinformatik och systembiologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Bioinformatics and Systems Biology (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
Wang, Yongbo
-
Gogol-Döring, An ...
-
Hu, Hao
-
Fröhler, Sebasti ...
-
Ma, Yunxia
-
Jens, Marvin
-
show more...
-
Maaskola, Jonas
-
Murakawa, Yasuhi ...
-
Quedenau, Claudi ...
-
Landthaler, Mark ...
-
Kalscheuer, Vera
-
Wieczorek, Dagma ...
-
Wang, Yang
-
Hu, Yuhui
-
Chen, Wei
-
show less...
- About the subject
-
- NATURAL SCIENCES
-
NATURAL SCIENCES
-
and Biological Scien ...
-
and Bioinformatics a ...
- Articles in the publication
-
EMBO Molecular M ...
- By the university
-
Royal Institute of Technology