دورية أكاديمية
أعرض في EDS

Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.

التفاصيل البيبلوغرافية
العنوان: Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.
المؤلفون: Hanks S; 1] Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK [2]., Perdeaux ER; 1] Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK [2]., Seal S; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Ruark E; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Mahamdallie SS; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Murray A; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Ramsay E; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Del Vecchio Duarte S; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Zachariou A; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., de Souza B; 1] Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK [2] Cancer Genetics Unit, Royal Marsden Hospital NHS Foundation Trust, London SM2 5PT, UK., Warren-Perry M; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Elliott A; Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK., Davidson A; Department of Paediatric Haematology-Oncology, Red Cross Children's Hospital, University of Cape Town, Cape Town 7700, South Africa., Price H; Department of Paediatrics, Great Western Hospital, Swindon SN3 6BB, UK., Stiller C; Childhood Cancer Research Group, University of Oxford, Oxford OX1 2JD, UK., Pritchard-Jones K; Molecular Haematology and Cancer Biology Unit, Institute of Child Health, University College London, London WC1E 6BT, UK., Rahman N; 1] Division of Genetics and Epidemiology, Institute of Cancer Research, London SM2 5NG, UK [2] Cancer Genetics Unit, Royal Marsden Hospital NHS Foundation Trust, London SM2 5PT, UK.
المصدر: Nature communications [Nat Commun] 2014 Aug 07; Vol. 5, pp. 4398. Date of Electronic Publication: 2014 Aug 07.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [London] : Nature Pub. Group
مواضيع طبية MeSH: Genetic Predisposition to Disease* , Germ-Line Mutation*, Nuclear Proteins/*genetics , Phosphoproteins/*genetics , Wilms Tumor/*genetics, 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
مستخلص: 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.
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معلومات مُعتمدة: 100210 United Kingdom WT_ Wellcome Trust; 088804/Z/09/Z United Kingdom WT_ Wellcome Trust; United Kingdom DH_ Department of Health; United Kingdom WT_ Wellcome Trust; C8620_A9024 United Kingdom CRUK_ Cancer Research UK
المشرفين على المادة: 0 (CTR9 protein, human)
0 (Nuclear Proteins)
0 (PAF1 protein, human)
0 (Phosphoproteins)
0 (Transcription Factors)
تواريخ الأحداث: Date Created: 20140808 Date Completed: 20150804 Latest Revision: 20240705
رمز التحديث: 20240705
مُعرف محوري في PubMed: PMC4143912
DOI: 10.1038/ncomms5398
PMID: 25099282
قاعدة البيانات: MEDLINE
الوصف
تدمد:2041-1723
DOI:10.1038/ncomms5398