Search: (WFRF:(Umer Husen M.)) srt2:(2016) >
A Significant Regul...
A Significant Regulatory Mutation Burden at a High-Affinity Position of the CTCF Motif in Gastrointestinal Cancers
-
- Umer, Husen M. (author)
- Uppsala universitet,Beräkningsbiologi och bioinformatik,Science for Life Laboratory, SciLifeLab
-
- Cavalli, Marco (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
-
- Dabrowski, Michal J. (author)
- Polish Acad Sci, Inst Comp Sci, PL-01248 Warsaw, Poland.
-
show more...
-
- Diamanti, Klev (author)
- Uppsala universitet,Beräkningsbiologi och bioinformatik,Science for Life Laboratory, SciLifeLab
-
- Kruczyk, Marcin (author)
- Uppsala universitet,Institutionen för cell- och molekylärbiologi,Science for Life Laboratory, SciLifeLab
-
- Pan, Gang (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
-
- Komorowski, Jan (author)
- Uppsala universitet,Beräkningsbiologi och bioinformatik,Science for Life Laboratory, SciLifeLab,Polish Acad Sci, Inst Comp Sci, PL-01248 Warsaw, Poland.
-
- Wadelius, Claes (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
-
show less...
-
(creator_code:org_t)
- 2016-06-02
- 2016
- English.
-
In: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 37:9, s. 904-913
- Related links:
-
https://urn.kb.se/re...
-
show more...
-
https://doi.org/10.1...
-
show less...
Abstract
Subject headings
Close
- Somatic mutations drive cancer and there are established ways to study those in coding sequences. It has been shown that some regulatory mutations are over-represented in cancer. We develop a new strategy to find putative regulatory mutations based on experimentally established motifs for transcription factors (TFs). In total, we find 1,552 candidate regulatory mutations predicted to significantly reduce binding affinity of many TFs in hepatocellular carcinoma and affecting binding of CTCF also in esophagus, gastric, and pancreatic cancers. Near mutated motifs, there is a significant enrichment of (1) genes mutated in cancer, (2) tumor-suppressor genes, (3) genes in KEGG cancer pathways, and (4) sets of genes previously associated to cancer. Experimental and functional validations support the findings. The strategy can be applied to identify regulatory mutations in any cell type with established TF motifs and will aid identifications of genes contributing to cancer.
Keyword
- mutated binding sites
- motifs
- noncoding regulatory regions
- CTCF
- driver mutations
- whole-genome sequencing
- WGS
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database