A significant regulatory mutation burden at a high affinity position of the CTCF motif in gastrointestinal cancers
PBN-AR
Instytucja
Instytut Podstaw Informatyki Polskiej Akademii Nauk
Informacje podstawowe
Główny język publikacji
angielski
Czasopismo
Human Mutation
ISSN
1059-7794
EISSN
1098-1004
Wydawca
WILEY-BLACKWELL
DOI
URL
Rok publikacji
2016
Numer zeszytu
37 (9)
Strony od-do
904-913
Numer tomu
Identyfikator DOI
Liczba arkuszy
Autorzy
Pozostali autorzy
+ 6
Słowa kluczowe
angielski
mutated binding sites
motifs
noncoding reg-ulatory regions
CTCF
driver mutations
whole-genomesequencing
WGS
Streszczenia
Język
angielski
Treść
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.
Inne
System-identifier
PX-57c449c9c2dc7deeb3ec1da8
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