Identification of a KEAP1 Germline Mutation in a Family with Multinodular Goitre

PLoS ONE

Volumn 8, Issue 5, 2013, Pages

  Teshiba, Risa ^a,e   Tajiri, Tatsuro ^b   Sumitomo, Kenzo ^c   Masumoto, Kouji ^d   Taguchi, Tomoaki ^e   Yamamoto, Ken ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^c Shimonoseki City Hospital   (Japan)

^d UNIVERSITY OF TSUKUBA   (Japan)

^e KYUSHU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; KELCH LIKE ECH ASSOCIATED PROTEIN 1; THREONINE;

ADOLESCENT; ADULT; ARTICLE; CELL PROTECTION; CHILD; CHROMOSOME 19P; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN REGULATION; EXON; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE TARGETING; GENETIC LINKAGE; GENETIC MARKER; GLUTAMATE CYSTEINE LIGASE CATALYTIC SUBUNIT GENE; GLUTATHIONE S TRANSFERASE ALPHA 4 GENE; GOITER; HETEROZYGOTE; HORMONE SYNTHESIS; HUMAN; KELCH LIKE ECH ASSOCIATED PROTEIN 1 GENE; MALE; MULTINODULAR GOITER; MUTATIONAL ANALYSIS; MUTATOR GENE; NUCLEAR FACTOR ERYTHROID DERIVED 2 LIKE 2 GENE; OXIDATIVE STRESS; PEDIGREE ANALYSIS; PROMOTER REGION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; UPREGULATION;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 19; FAMILY; FEMALE; GENETIC LINKAGE; GENOME, HUMAN; GERM-LINE MUTATION; GOITER, NODULAR; HETEROZYGOTE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; NF-E2-RELATED FACTOR 2; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; THYROID GLAND; UP-REGULATION;

EID: 84878378017     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0065141     Document Type: Article

References (34)

1. Knudsen N, Perrild H, Christiansen E, Rasmussen S, Dige-Petersen H, et al. (2000) Thyroid structure and size and twoyear follow-up of solitary cold thyroid nodules in an unselected population with borderline iodine deficiency. Eur J Endocrinol 142: 224-230.
2. Krohn K, Führer D, Bayer Y, Eszlinger M, Brauer V, et al. (2005) Molecular pathogenesis of euthyroid and toxic multinodular goiter. Endocr Rev 26: 504-524.
3. Hegedüs L, Bonnema SJ, Bennedbaek FN, (2003) Management of simple nodular goiter: Current status and future perspectives. Endocr Rev 24: 102-132.
4. Laurberg P, Jørgensen T, Perrild H, Ovesen L, Knudsen N, et al. (2006) The Danish investigation on iodine intake and thyroid disease. Eur J Endocrinol 155: 219-228.
5. Brix TH, Hegedüs L, (2000) Genetic and environmental factors in the aetiology of simple goiter. Ann Med 32: 153-156.
6. Greig WR, Boyle JA, Duncan A, Nicol J, Gray MJ, et al. (1967) Genetic and non-genetic factors in simple goitre formation: evidence from a twin study. Q J Med 142: 175-188.
7. Bayoumi RA, Taha TS, Saha N, (1988) Study of possible genetic predisposition to endemic goitre among the Fur and Baggara tribes of the Sudan. Hum Hered 38: 8-11.
8. Ngan ES, Lang BH, Liu T, Shum CK, So MT, et al. (2009) A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma. J Natl Cancer Inst 101: 162-175.
9. Arora N, Scognamiglio T, Zhu B, Fahey TJ 3rd (2008) Do benign thyroid nodules have malignant potential? An evidence-based review. World J Surg 32: 1237-1246.
10. Bignell GR, Canzian F, Shayeghi M, Stark M, Shugart YY, et al. (1997) Familial Nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer. Am J Hum Genet 61: 1123-1130.
11. Neumann S, Willgerodt H, Ackermann F, Reske A, Jung M, et al. (1999) Linkage of familial euthyroid goiter to the multinodular goiter-1 locus and exclusion of the candidate genes thyroglobulin, thyroperoxidase, and Na+/I- symporter. J Clin Endocrinol Metab 84: 3750-3756.
12. Capon F, Tacconelli A, Giardina E, Sciacchitano S, Bruno R, et al. (2000) Mapping a dominant form of multinodular goiter to chromosome Xp22. Am J Hum Genet 67: 1004-1007.
13. Takahashi T, Nozaki J, Komatsu M, Wada Y, Utsunomiya M, et al. (2001) A new locus for a dominant form of multinodular goiter on 3q26.1-q26.3. Biochem Biophys Res Commun 284: 650-654.
14. Bayer Y, Neumann S, Meyer B, Rüschendorf F, Reske A, et al. (2004) Genome-wide linkage analysis reveals evidence for four new susceptibility loci for familial euthyroid goiter. J Clin Endocrinol Metab 89: 4044-4052.
15. Neumann S, Bayer Y, Reske A, Tajtáková M, Langer P, et al. (2003) Further indications for genetic heterogeneity of euthyroid familial goiter. J Mol Med 81: 736-745.
16. Rio Frio T, Bahubeshi A, Kanellopoulou C, Hamel N, Niedziela M, et al. (2011) DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors. JAMA 305: 68-77.
17. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
18. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES, (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58: 1347-1363.
19. Hoffmann K, Lindner TH, (2005) easyLINKAGE Plus - Automated linkage analyses using large-scale SNP data. Bioinformatics 21: 3565-3567.
20. Broman KW, Murray JC, Sheffield VC, White RL, Weber JL, (1998) Comprehensive human genetic maps: Individual and sex-specific variation in recombination. Am J Hum Genet 63: 861-869.
21. Schwarz JM, Rödelsperger C, Schuelke M, Seelow D, (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7: 575-576.
22. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249.
23. Nq PC, Henikoff S, (2003) SIFT: predicting amino acid changes that affect protein function,. Nucleic Acids Res 31: 3812-3814.
24. Yuan JS, Reed A, Chen F, Stewart CN Jr, (2006) Statistical analysis of real-time PCR data. BMC Bioinformatics 7: 85-96.
25. Bonora E, Evangelisti C, Bonichon F, Tallini G, Romeo G, (2006) Novel germline variants identified in the inner mitochondrial membrane transporter TIMM44 and their role in predisposition to oncocytic thyroid carcinomas. Br J Cancer 95: 1529-1536.
26. Máximo V, Botelho T, Capela J, Soares P, Lima J, et al. (2005) Somatic and germline mutation in GRIM-19, a dual function gene involved in mitochondrial metabolism and cell death, is linked to mitochondrion-rich (Hurthle cell) tumours of the thyroid. Br J Cancer 92: 1892-1898.
27. Porra V, Ferraro-Peyret C, Durand C, Selmi-Ruby S, Giroud H, et al. (2005) Silencing of the tumor suppressor gene SLC5A8 is associated with BRAF mutations in classical papillary thyroid carcinomas. J Clin Endocrinol Metab 90: 3028-3035.
28. Sekhar KR, Yan XX, Freeman ML, (2002) Nrf2 degradation by the ubiquitin proteasome pathway is inhibited by KIAA0132, the human homolog to INrf2. Oncogene 21: 6829-6834.
29. McMahon M, Itoh K, Yamamoto M, Hayes JD, (2003) Keap1-dependent proteasomal degradation of transcription factor Nrf2 contributes to the negative regulation of antioxidant response element-driven gene expression. J Biol Chem 278: 21592-21600.
30. Kobayashi A, Kang MI, Okawa H, Ohtsuji M, Zenke Y, et al. (2004) Oxidative stress sensor Keap1 functions as an adaptor for Cul3-based E3 ligase to regulate proteasomal degradation of Nrf2. Mol Cell Biol 24: 7130-7139.
31. Shibata T, Kokubo A, Gotoh M, Ojima H, Ohata T, et al. (2008) Genetic alteration of Keap1 confers constitutive Nrf2 activation and resistance to chemotherapy in gallbladder cancer. Gastroenterology 135: 1358-1368.
32. Taguchi K, Motohashi H, Yamamoto M, (2011) Molecular mechanisms of the Keap1-Nrf2 pathway in stress response and cancer evolution. Genes Cells 16: 123-140.
33. Hayes JD, McMahon M, (2009) NRF2 and KEAP1 mutations: permanent activation of an adaptive response in cancer. Trends Biochem Sci 34: 176-188.
34. DeNicola GM, Karreth FA, Humpton TJ, Gopinathan A, Wei C, et al. (2011) Oncogene-induced Nrf2 transcription promotes ROS detoxification and tumorigenesis. Nature 475: 106-109.