Mutations in the transcriptional repressor REST predispose to Wilms tumor

Nature Genetics

Volumn 47, Issue 12, 2015, Pages 1471-1474

  Mahamdallie, Shazia S ^a   Hanks, Sandra ^a   Karlin, Kristen L ^b   Zachariou, Anna ^a   Perdeaux, Elizabeth R ^a   Ruark, Elise ^a   Shaw, Chad A ^b   Renwick, Alexander ^b   Ramsay, Emma ^a   Yost, Shawn ^a   Elliott, Anna ^a   Birch, Jillian ^c   Capra, Michael ^d   Gray, Juliet ^e   Hale, Juliet ^f   Kingston, Judith ^g   Levitt, Gill ^g   McLean, Thomas ^h   Sheridan, Eamonn ⁱ   Renwick, Anthony ^a   Seal, Sheila ^a   Stiller, Charles ^j   Sebire, Neil ^g   Westbrook, Thomas F ^b   Rahman, Nazneen ^a,k   more..

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^e UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^f ROYAL VICTORIA INFIRMARY   (United Kingdom)

^g GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^h WAKE FOREST SCHOOL OF MEDICINE   (United States)

ⁱ CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^j PUBLIC HEALTH ENGLAND   (United Kingdom)

^k INSTITUTE OF CANCER RESEARCH   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

RE1 SILENCING TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; GENETIC MARKER; RE1-SILENCING TRANSCRIPTION FACTOR; REPRESSOR PROTEIN;

ALPHA ANTITRYPSIN DEFICIENCY; ARTICLE; CARCINOGENESIS; CELL DIFFERENTIATION; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL EVALUATION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA BINDING; EMBRYO DEVELOPMENT; EPIDERMOID CYST; EXOME; FAMILIAL DISEASE; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC IDENTIFICATION; GERMLINE MUTATION; GROWTH DISORDER; HEART MURMUR; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KNEE ARTHRITIS; MALE; MALIGNANT PLEURA EFFUSION; MEDICAL HISTORY; NEPHROBLASTOMA; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARY INSUFFICIENCY; PATENT DUCTUS ARTERIOSUS; PHENYLKETONURIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; RECURRENT DISEASE; REPRESSOR GENE; TUMOR SUPPRESSOR GENE; VON WILLEBRAND DISEASE; CASE CONTROL STUDY; COMPARATIVE STUDY; GENE EXPRESSION REGULATION; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; KIDNEY TUMOR; MUTATION;

CASE-CONTROL STUDIES; GENE EXPRESSION REGULATION; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KIDNEY NEOPLASMS; MUTATION; REPRESSOR PROTEINS; WILMS TUMOR;

EID: 84949112321     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3440     Document Type: Article

References (23)

1. Hohenstein, P., Pritchard-Jones, K. & Charlton, J. The yin and yang of kidney development and Wilms' tumors. Genes Dev. 29, 467-482 (2015).
2. Ruark, E. et al. The ICR1000 UK exome series: a resource of gene variation in an outbred population. F1000 Res. 4, 883 (2015).
3. Bithell, A. REST: transcriptional and epigenetic regulator. Epigenomics 3, 47-58 (2011).
4. Ooi, L. & Wood, I.C. Chromatin crosstalk in development and disease: lessons from REST. Nat. Rev. Genet. 8, 544-554 (2007).
5. Scott, R.H., Stiller, C.A., Walker, L. & Rahman, N. Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour. J. Med. Genet. 43, 705-715 (2006).
6. Hanks, S. et al. Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour. Nat. Commun. 5, 4398 (2014).
7. Rahman, N. et al. Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12-q21. Nat. Genet. 13, 461-463 (1996).
8. McDonald, J.M. et al. Linkage of familial Wilms' tumor predisposition to chromosome 19 and a two-locus model for the etiology of familial tumors. Cancer Res. 58, 1387-1390 (1998).
9. Rapley, E.A. et al. Evidence for susceptibility genes to familial Wilms tumour in addition to WT1, FWT1 and FWT2. Br. J. Cancer 83, 177-183 (2000).
10. Ruark, E. et al. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature 493, 406-410 (2013).
11. Forbes, S.A. et al. COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res. 39, D945-D950 (2011).
12. Lu, T. et al. REST and stress resistance in ageing and Alzheimer's disease. Nature 507, 448-454 (2014).
13. Buckley, N.J., Johnson, R., Zuccato, C., Bithell, A. & Cattaneo, E. The role of REST in transcriptional and epigenetic dysregulation in Huntington's disease. Neurobiol. Dis. 39, 28-39 (2010).
14. Canzonetta, C. et al. DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. Am. J. Hum. Genet. 83, 388-400 (2008).
15. Karlin, K.L. et al. The oncogenic STP axis promotes triple-negative breast cancer via degradation of the REST tumor suppressor. Cell Rep. 9, 1318-1332 (2014).
16. Gurrola-Diaz, C., Lacroix, J., Dihlmann, S., Becker, C.M. & von Knebel Doeberitz, M. Reduced expression of the neuron restrictive silencer factor permits transcription of glycine receptor α1 subunit in small-cell lung cancer cells. Oncogene 22, 5636-5645 (2003).
17. Kreisler, A. et al. Regulation of the NRSF/REST gene by methylation and CREB affects the cellular phenotype of small-cell lung cancer. Oncogene 29, 5828-5838 (2010).
18. Tawadros, T. et al. IB1/JIP-1 controls JNK activation and increased during prostatic LNCaP cells neuroendocrine differentiation. Cell. Signal. 17, 929-939 (2005).
19. Ballas, N., Grunseich, C., Lu, D.D., Speh, J.C. & Mandel, G. REST and its corepressors mediate plasticity of neuronal gene chromatin throughout neurogenesis. Cell 121, 645-657 (2005).
20. Little, S.E. et al. Frequency and heritability of WT1 mutations in nonsyndromic Wilms' tumor patients: a UK Children's Cancer Study Group Study. J. Clin. Oncol. 22, 4140-4146 (2004).
21. Scott, R.H. et al. Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice. Arch. Dis. Child. 91, 995-999 (2006).
22. Lunter, G. & Goodson, M. Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads. Genome Res. 21, 936-939 (2011).
23. Rimmer, A. et al. Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications. Nat. Genet. 46, 912-918 (2014).