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Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
- Source :
-
Nature communications [Nat Commun] 2014 Aug 07; Vol. 5, pp. 4398. Date of Electronic Publication: 2014 Aug 07. - Publication Year :
- 2014
-
Abstract
- Wilms tumour is a childhood kidney cancer. Here we identify inactivating CTR9 mutations in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. By contrast, no similar mutations are present in 1,000 population controls (P<0.0001). Each mutation segregates with Wilms tumour in the family and a second mutational event is present in available tumours. CTR9 is a key component of the polymerase-associated factor 1 complex which has multiple roles in RNA polymerase II regulation and is implicated in embryonic organogenesis and maintenance of embryonic stem cell pluripotency. These data establish CTR9 as a Wilms tumour predisposition gene and suggest it acts as a tumour suppressor gene.
- Subjects :
- Alternative Splicing
Child, Preschool
DNA Mutational Analysis
Exome
Exons
Family Health
Female
Heterozygote
Humans
Infant
Kidney pathology
Lymphocytes cytology
Lymphocytes metabolism
Male
Pedigree
Transcription Factors
Genetic Predisposition to Disease
Germ-Line Mutation
Nuclear Proteins genetics
Phosphoproteins genetics
Wilms Tumor genetics
Subjects
Details
- Language :
- English
- ISSN :
- 2041-1723
- Volume :
- 5
- Database :
- MEDLINE
- Journal :
- Nature communications
- Publication Type :
- Academic Journal
- Accession number :
- 25099282
- Full Text :
- https://doi.org/10.1038/ncomms5398