Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

Nature Genetics

Volumn 46, Issue 5, 2014, Pages 482-486

  Shi, Jianxin ^a   Yang, Xiaohong R ^a   Ballew, Bari ^a   Rotunno, Melissa ^a   Calista, Donato ^b   Fargnoli, Maria Concetta ^c   Ghiorzo, Paola ^d,e   Bressac De Paillerets, Brigitte ^f   Nagore, Eduardo ^g,h   Avril, Marie Francoise ⁱ   Caporaso, Neil E ^a   McMaster, Mary L ^a   Cullen, Michael ^a,j   Wang, Zhaoming ^a,j   Zhang, Xijun ^a,j   Bruno, William ^d,e   Pastorino, Lorenza ^d,e   Queirolo, Paola ^e   Banuls Roca, Jose ^k   Garcia Casado, Zaida ^g   Vaysse, Amaury ^l,m   Mohamdi, Hamida ^l,m   Riazalhosseini, Yasser ⁿ   Foglio, Mario ^o   Jouenne, Fanélie ^f   Hua, Xing ^a   Hyland, Paula L ^a   Yin, Jinhu ^p   Vallabhaneni, Haritha ^p   Chai, Weihang ^q   Minghetti, Paola ^b   Pellegrini, Cristina ^c   Ravichandran, Sarangan ^j   Eggermont, Alexander ^f,r   Lathrop, Mark ^n,s   Peris, Ketty ^c   Scarra, Giovanna Bianchi ^d   Landi, Giorgio ^b   Savage, Sharon A ^a   Sampson, Joshua N ^a   He, Ji ^a,j   Yeager, Meredith ^a,j   Goldin, Lynn R ^a   Demenais, Florence ^l,m   Chanock, Stephen J ^a   Tucker, Margaret A ^a   Goldstein, Alisa M ^a   Liu, Yie ^p   Landi, Maria Teresa ^a   more..

^a NATIONAL CANCER INSTITUTE   (United States)

^b BUFALINI HOSPITAL   (Italy)

^c UNIVERSITY OF L'AQUILA   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

^e UNIVERSITY OF GENOA   (Italy)

^f Service de Génétique Gustave Roussy Cancer Campus   (France)

^g INSTITUTO VALENCIANO DE ONCOLOGÍA   (Spain)

^h UNIVERSIDAD CATÓLICA DE VALENCIA SAN VICENTE MÁRTIR   (Spain)

ⁱ UNIVERSITÉ PARIS DESCARTES   (France)

^j SAIC FREDERICK INC   (United States)

^k HOSPITAL GENERAL UNIVERSITARIO DE ALICANTE   (Spain)

^l INSERM   (France)

^m UNIVERSITÉ PARIS DIDEROT   (France)

ⁿ MCGILL UNIVERSITY   (Canada)

^o SAS Quantome   (France)

^p NATIONAL INSTITUTE ON AGING   (United States)

^q WASHINGTON STATE UNIVERSITY   (United States)

^r UNIVERSITÉ PARIS SACLAY   (France)

^s FONDATION JEAN DAUSSET CEPH   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A; PEPTIDES AND PROTEINS; PROTECTION OF TELOMERES 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHROMOSOME 7; CHROMOSOME SIZE; CONTROLLED STUDY; CUTANEOUS MELANOMA; FAMILIAL DISEASE; GENE; GENE SEQUENCE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POPULATION RESEARCH; POT1 GENE; PRIORITY JOURNAL; TELOMERE; TELOMERE HOMEOSTASIS; VERY ELDERLY; YOUNG ADULT; GENE MUTATION; ITALY;

AMINO ACID SEQUENCE; BASE SEQUENCE; COMPUTATIONAL BIOLOGY; EXOME; FRANCE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; ITALY; MELANOMA; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NEOPLASMS, CONNECTIVE TISSUE; PEDIGREE; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; TELOMERE HOMEOSTASIS; TELOMERE-BINDING PROTEINS; UNITED STATES;

EID: 84899648964     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2941     Document Type: Article

References (53)

1. Goldstein, A.M. & Tucker, M.A. Genetic epidemiology of cutaneous melanoma: a global perspective. Arch. Dermatol. 137, 1493-1496 (2001).
2. Cannon-Albright, L.A. et al. Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science 258, 1148-1152 (1992).
3. Hussussian, C.J. et al. Germline p16 mutations in familial melanoma. Nat. Genet. 8, 15-21 (1994).
4. Gruis, N.A. et al. Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nat. Genet. 10, 351-353 (1995).
5. Goldstein, A.M. Familial melanoma, pancreatic cancer and germline CDKN2A mutations. Hum. Mutat. 23, 630 (2004).
6. Eliason, M.J. et al. Population-based prevalence of CDKN2A mutations in Utah melanoma families. J. Invest. Dermatol. 126, 660-666 (2006).
7. Zuo, L. et al. Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nat. Genet. 12, 97-99 (1996).
8. Puntervoll, H.E. et al. Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. J. Med. Genet. 50, 264-270 (2013).
9. Wiesner, T. et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat. Genet. 43, 1018-1021 (2011).
10. Horn, S. et al. TERT promoter mutations in familial and sporadic melanoma. Science 339, 959-961 (2013).
11. Loayza, D. & De Lange, T. POT1 as a terminal transducer of TRF1 telomere length control. Nature 423, 1013-1018 (2003).
12. Palm, W. & de Lange, T. How shelterin protects mammalian telomeres. Annu. Rev. Genet. 42, 301-334 (2008).
13. Lei, M., Podell, E.R., Baumann, P. & Cech, T.R. DNA self-recognition in the structure of Pot1 bound to telomeric single-stranded DNA. Nature 426, 198-203 (2003).
14. Lei, M., Podell, E.R. & Cech, T.R. Structure of human POT1 bound to telomeric single-stranded DNA provides a model for chromosome end-protection. Nat. Struct. Mol. Biol. 11, 1223-1229 (2004).
15. 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).
16. Ramsay, A.J. et al. POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. Nat. Genet. 45, 526-530 (2013).
17. Taboski, M.A. et al. Long telomeres bypass the requirement for telomere maintenance in human tumorigenesis. Cell Reports 1, 91-98 (2012).
18. Kendellen, M.F., Barrientos, K.S. & Counter, C.M. POT1 association with TRF2 regulates telomere length. Mol. Cell. Biol. 29, 5611-5619 (2009).
19. Martínez, P. et al. Increased telomere fragility and fusions resulting from TRF1 deficiency lead to degenerative pathologies and increased cancer in mice. Genes Dev. 23, 2060-2075 (2009).
20. Sfeir, A. et al. Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication. Cell 138, 90-103 (2009).
21. Badie, S. et al. BRCA2 acts as a RAD51 loader to facilitate telomere replication and capping. Nat. Struct. Mol. Biol. 17, 1461-1469 (2010).
22. Gu, P. et al. CTC1 deletion results in defective telomere replication, leading to catastrophic telomere loss and stem cell exhaustion. EMBO J. 31, 2309-2321 (2012).
23. Takai, H., Smogorzewska, A. & de Lange, T. DNA damage foci at dysfunctional telomeres. Curr. Biol. 13, 1549-1556 (2003).
24. Wang, F. et al. The POT1-TPP1 telomere complex is a telomerase processivity factor. Nature 445, 506-510 (2007).
25. Xin, H. et al. TPP1 is a homologue of ciliate TEBP-? and interacts with POT1 to recruit telomerase. Nature 445, 559-562 (2007).
26. Robles-Espinoza, C.D. et al. POT1 loss-of-function variants predispose to familial melanoma. Nat. Genet. doi:10.1038/ng.2947 (30 March 2014).
27. Landi, M.T. et al. Genetic susceptibility in familial melanoma from northeastern Italy. J. Med. Genet. 41, 557-566 (2004).
28. Horvath, M.P. & Schultz, S.C. DNA G-quartets in a 1.86 A resolution structure of an Oxytricha nova telomeric protein-DNA complex. J. Mol. Biol. 310, 367-377 (2001).
29. Theobald, D.L. & Schultz, S.C. Nucleotide shuffling and ssDNA recognition in Oxytricha nova telomere end-binding protein complexes. EMBO J. 22, 4314-4324 (2003).
30. Classen, S., Ruggles, J.A. & Schultz, S.C. Crystal structure of the N-terminal domain of Oxytricha nova telomere end-binding protein ? subunit both uncomplexed and complexed with telomeric ssDNA. J. Mol. Biol. 314, 1113-1125 (2001).
31. Tucker, M.A. et al. A natural history of melanomas and dysplastic nevi: an atlas of lesions in melanoma-prone families. Cancer 94, 3192-3209 (2002).
32. Liang, X.S. et al. Common genetic variants in candidate genes and risk of familial lymphoid malignancies. Br. J. Haematol. 146, 418-423 (2009).
33. Chaudru, V. et al. Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families. J. Natl. Cancer Inst. 96, 785-795 (2004).
34. Bodelon, C. et al. On the interplay of telomeres, nevi and the risk of melanoma. PLoS ONE 7, e52466 (2012).
35. Maccioni, L. et al. Variants at chromosome 20 (ASIP locus) and melanoma risk. Int. J. Cancer 132, 42-54 (2013).
36. Landi, M.T. et al. A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am. J. Hum. Genet. 85, 679-691 (2009).
37. Landi, M.T. et al. Environment and Genetics in Lung cancer Etiology (EAGLE) study: an integrative population-based case-control study of lung cancer. BMC Public Health 8, 203 (2008).
38. Ballew, B.J. et al. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Hum. Genet. 132, 473-480 (2013).
39. DePristo, M.A. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43, 491-498 (2011).
40. Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007).
41. Browning, B.L. & Browning, S.R. A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am. J. Hum. Genet. 84, 210-223 (2009).
42. Kong, A. et al. Detection of sharing by descent, long-range phasing and haplotype imputation. Nat. Genet. 40, 1068-1075 (2008).
43. Genin, E., Tullio-Pelet, A., Begeot, F., Lyonnet, S. & Abel, L. Estimating the age of rare disease mutations: the example of Triple-A syndrome. J. Med. Genet. 41, 445-449 (2004).
44. Krumm, N. et al. Copy number variation detection and genotyping from exome sequence data. Genome Res. 22, 1525-1532 (2012).
45. Notredame, C., Higgins, D.G. & Heringa, J. T-Coffee: a novel method for fast and accurate multiple sequence alignment. J. Mol. Biol. 302, 205-217 (2000).
46. Waterhouse, A.M., Procter, J.B., Martin, D.M., Clamp, M. & Barton, G.J. Jalview Version 2 - a multiple sequence alignment editor and analysis workbench. Bioinformatics 25, 1189-1191 (2009).
47. Hathcock, K.S., Hodes, R.J. & Weng, N.P. Analysis of telomere length and telomerase activity. Curr. Protoc. Immunol. Chapter 10, Unit 10.30 (2004).
48. Zijlmans, J.M. et al. Telomeres in the mouse have large inter-chromosomal variations in the number of T2AG3 repeats. Proc. Natl. Acad. Sci. USA 94, 7423-7428 (1997).
49. Wang, Y. et al. An increase in telomere sister chromatid exchange in murine embryonic stem cells possessing critically shortened telomeres. Proc. Natl. Acad. Sci. USA 102, 10256-10260 (2005).
50. Bailey, S.M., Goodwin, E.H. & Cornforth, M.N. Strand-specific fluorescence in situ hybridization: the CO-FISH family. Cytogenet. Genome Res. 107, 14-17 (2004).
51. Vallabhaneni, H., O'Callaghan, N., Sidorova, J. & Liu, Y. Defective repair of oxidative base lesions by the DNA glycosylase Nth1 associates with multiple telomere defects. PLoS Genet. 9, e1003639 (2013).
52. Chai, W., Shay, J.W. & Wright, W.E. Human telomeres maintain their overhang length at senescence. Mol. Cell. Biol. 25, 2158-2168 (2005).
53. Liu, Y. et al. The telomerase reverse transcriptase is limiting and necessary for telomerase function in vivo. Curr. Biol. 10, 1459-1462 (2000).