MEN1 gene and its mutations: Basic and clinical implications

Cancer Science

Volumn 100, Issue 2, 2009, Pages 209-215

  Tsukada, Toshihiko ^a   Nagamura, Yuko ^a   Ohkura, Naganari ^a  

^a NATIONAL CANCER CENTER RESEARCH INSTITUTE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; METHIONINE; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 PROTEIN; PROTEIN MEN1; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG;

CARCINOGENESIS; CELL DIFFERENTIATION; CELL DIVISION; DNA DETERMINATION; FAMILIAL CANCER; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERPARATHYROIDISM; MISSENSE MUTATION; MULTIPLE ENDOCRINE NEOPLASIA; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DEPLETION; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; PROTEIN TARGETING; REVIEW;

HUMANS; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; MUTATION; PHENOTYPE; PROTO-ONCOGENE PROTEINS;

EID: 58549115495     PISSN: 13479032     EISSN: 13497006     Source Type: Journal    
DOI: 10.1111/j.1349-7006.2008.01034.x     Document Type: Review

References (59)

1. Chandrasekharappa SC, Guru SC, Manickam P et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 1997; 276: 404-7.
2. Gardner DG. Recent advances in multiple endocrine neoplasia syndromes. Adv Intern Med 1997; 42: 597-627.
3. Brandi ML, Gagel RF, Angeli A et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001; 86: 5658-71.
4. Lemos MC, Thakker RV. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat 2008; 29: 22-32.
5. Balogh K, Hunyady L, Patocs A et al. MEN1 gene mutations in Hungarian patients with multiple endocrine neoplasia type 1. Clin Endocrinol 2007; 67: 727-34.
6. Toledo RA, Lourenco Jr DM, Coutinho FL et al. Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1. Clin Endocrinol 2007; 67: 377-84.
7. Tham E, Grandell U, Lindgren E, Toss G, Skogseid B, Nordenskjöld M. Clinical testing for mutations in the MEN1 gene in Sweden: A report on 200 unrelated cases. J Clin Endocrinol Metab 2007; 92: 3389-95.
8. Vierimaa O, Ebeling TM, Kytölä S et al. Multiple endocrine neoplasia type 1 in Northern Finland: Clinical features and genotype phenotype correlation. Eur J Endocrinol 2007; 157: 285-94.
9. Jiang XH, Lu JL, Cui B et al. MEN1 mutation analysis in Chinese patients with multiple endocrine neoplasia type 1. Endocr Relat Cancer 2007; 14: 1073-9.
10. Hannan FM, Nesbit MA, Christie PT et al. Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene. Nat Clin Prac Endocrinol Metab 2008; 4: 53-8.
11. Knudson AG. Hereditary cancer: Two hits revisited. J Cancer Res Clin Oncol 1996; 122: 135-40.
12. Stewart C, Parente F, Piehl F et al. Characterization of the mouse Men1 gene and its expression during development. Oncogene 1998; 17: 2485-93.
13. Maruyama K, Tsukada T, Hosono T et al. Structure and distribution of rat menin mRNA. Mol Cell Endocrinol 1999; 156: 25-33.
14. Ikeo Y, Sakurai A, Suzuki R et al. Proliferation-associated expression of the MEN1 gene as revealed by in situ hybridization: Possible role of the menin as a negative regulator of cell proliferation under DNA damage. Lab Invest 2000; 80: 797-804.
15. Wautot V, Khodaei S, Frappart L et al. Expression analysis of endogenous menin, the product of the multiple endocrine neoplasia type 1 gene, in cell lines and human tissues. Int J Cancer 2000; 85: 877-81.
16. Maruyama K, Tsukada T, Honda M et al. Complementary DNA structure and genomic organization of Drosophila menin. Mol Cell Endocrinol 2000; 168: 135-40.
17. Rubin GM, Yandell MD, Wortman JR et al. Comparative genomics of the eukaryotes. Science 2000; 287: 2204-15.
18. Van Kesteren RE, Syed NI, Munno DW et al. Synapse formation between central neurons requires postsynaptic expression of the MEN1 tumor suppressor gene. J Neurosci 2001; 21: RC161.
19. Tsukada T, Ymaguchi K, Kameya T. The MEN1 gene and associated diseases: an update. Endocr Pathol 2001; 12: 259-73.
20. Pellegata NS, Quintanilla-Martinez L, Siggelkow H et al. Germ-line mutations in p27 Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci USA 2006; 103: 15 558-63.
21. Simonds WF, James-Newton LA, Agarwal SK et al. Familial isolated hyperparathyroidism: Clinical and genetic characteristics of 36 kindreds. Medicine 2002; 81: 1-26.
22. Vierimaa O, Georgitsi M, Lehtonen R et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 2006; 312: 1228-30.
23. Hao W, Skarulis MC, Simonds WF et al. Multiple endocrine neoplasia type 1 variant with frequent prolactinoma and rare gastrinoma. J Clin Endocrinol Metab 2004; 89: 3776-84.
24. Honda M, Tsukada T, Tanaka H et al. A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism. Eur J Endocrinol 2000; 142: 138-43.
25. Guru SC, Goldsmith PK, Burns AL et al. Menin, the product of the MEN1 gene, is a nuclear protein. Proc Natl Acad Sci USA 1998; 95: 1630-4.
26. Huang SC, Zhuang Z, Weil RJ et al. Nuclear/cytoplasmic localization of the multiple endocrine neoplasia type 1 gene product, menin. Lab Invest 1999; 79: 301-10.
27. Lopez-Egido JR, Cunningham J, Berg M, Oberg K, Bongcam-Rudloff E, Gobl AE. Menin's interaction with glial fibrillary acidic protein and vimentin suggests a role for the intermediate filament network in regulating menin activity. Exp Cell Res 2002; 278: 175-83.
28. Agarwal SK, Guru SC, Heppner C et al. Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell 1999; 96: 143-52.
29. Gobl AE, Berg M, Lopez-Egido JR, Öberg K, Skogseid B, Westin G. Menin represses JunD-activated transcription by a histone deacetylase-dependent mechanism. Biochim Biophys Acta 1999; 1447: 51-6.
30. Kim H, Lee J-E, Cho E-J, Liu JO, Youn H-D. Menin, a tumor suppressor, represses JunD-mediated transcriptional activity by association with an mSin3A-histone deacetylase complex. Cancer Res 2003; 63: 6135-9.
31. Heppner C, Bilimoria KY, Agarwal SK et al. The tumor suppressor protein menin interacts with NF-κB proteins and inhibits NF-κB-mediated transactivation. Oncogene 2001; 20: 4917-25.
32. Kaji H, Canaff L, Lebrun JJ, Goltzman D, Hendy GN. Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type β signaling. Proc Natl Acad Sci USA 2001; 98: 3837-42.
33. Sowa H, Kaji H, Hendy GN et al. Menin is required for bone morphogenetic protein 2- and transforming growth factor β-regulated osteoblastic differentiation through interaction with Smads and Runx2. J Biol Chem 2004; 279: 40 267-75.
34. Lemmens IH, Forsberg L, Pannett AAJ et al. Menin interacts directly with the homeobox-containing protein Pem. Biochem Biophys Res Commun 2001; 286: 426-31.
35. Hughes CM, Rozenblatt-Rosen O, Milne TA et al. Menin associates with a trithorax family histone methyltransferase complex and with the Hoxc8 locus. Mol Cell 2004; 13: 587-97.
36. Yokoyama A, Wang Z, Wysocka J et al. Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression. Mol Cell Biol 2004; 24: 5639-49.
37. Milne TA, Hughes CM, Lloyd R et al. Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors. Proc Natl Acad Sci USA 2005; 102: 749-54.
38. Yokoyama A, Somervaille TCP, Smith KS, Rozenblatt-Rosen O, Meyerson M, Cleary ML. The menin tumor suppressor protein is an essential oncogenic cofactor for MLL-associated leukemogenesis. Cell 2005; 123: 207-18.
39. Chen Y-X, Yan J, Keeshan K et al. The tumor suppressor menin regulates hematopoiesis and myeloid transformation by influencing Hox gene expression. Proc Natl Acad Sci USA 2006; 103: 1018-23.
40. Caslini C, Yang Z, El-Osta M, Milne TA, Slany RK, Hess JL. Interaction of MLL amino terminal sequences with menin is required for transformation. Cancer Res 2007; 67: 7275-83.
41. Yokoyama A, Cleary ML. Menin critically links MLL proteins with LEDGF on cancer-associated target genes. Cancer Cell 2008; 14: 36-46.
42. Dreijerink KMA, Mulder KW, Winkler GS, Höppener JWM, Lips CJM, Timmers HTM. Menin links estrogen receptor activation to histone H3K4 trimethylation. Cancer Res 2006; 66: 4929-35.
43. Gustavson KH, Jansson R, Öberg K. Chromosomal breakage in multiple endocrine adenomatosis (type I and II). Clin Genet 1983; 23: 143-9.
44. Sukhodolets KE, Hickman AB, Agarwal SK et al. The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene. Mol Cell Biol 2003; 23: 493-509.
45. Jin S, Mao H, Schnepp RW et al. Menin associates with FANCD2, a protein involved in repair of DNA damage. Cancer Res 2003; 63: 4204-10.
46. Silverstein RA, Ekwall K. Sin3: A flexible regulator of global gene expression and genome stability. Curr Genet 2005; 47: 1-17.
47. Busygina V, Suphapeetiporn K, Marek LR, Stowers RS, Xu T, Bale AE. Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1. Hum Mol Genet 2004; 13: 2399-408.
48. Busygina V, Kottemann MC, Scott KL, Plon SE, Bale AE. Multiple endocrine neoplasia type 1 interacts with forkhead transcription factor CHES1 in DNA damage response. Cancer Res 2006; 66: 8397-403.
49. Ohkura N, Kishi M, Tsukada T, Yamaguchi K. Menin, a gene product responsible for multiple endocrine neoplasia type 1, interacts with the putative tumor metastasis suppressor nm23. Biochem Biophys Res Commun 2001; 282: 1206-10.
50. Yaguchi H, Ohkura N, Tsukada T, Yamaguchi K. Menin, the multiple endocrine neoplasia type 1 gene product, exhibits GTP-hydrolyzing activity in the presence of the tumor metastasis suppressor nm23. J Biol Chem 2002; 277: 38 197-204.
51. Obungu VH, Burns AL, Agarwal SK, Chandrasekharappa SC, Adelstein RS, Marx SJ. Menin, a tumor suppressor, associates with nonmuscle myosin II-A heavy chain. Oncogene 2003; 22: 6347-58.
52. Schnepp RW, Hou Z, Wang H et al. Functional interaction between tumor suppressor menin and activator of S-phase kinase. Cancer Res 2004; 64: 6791-6.
53. Yaguchi H, Ohkura N, Takahashi M, Nagamura Y, Kitabayashi I, Tsukada T. Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway. Mol Cell Biol 2004; 24: 6569-80.
54. Crabtree JS, Scacheri PC, Ward JM et al. A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. Proc Natl Acad Sci USA 2001; 98: 1118-23.
55. Scacheri PC, Crabtree JS, Kennedy AL et al. Homozygous loss of menin is well tolerated in liver, a tissue not affected in MEN1. Mamm Genome 2004; 15: 872-7.
56. Lin S-Y, Elledge SJ. Multiple tumor suppressor pathways negatively regulate telomerase. Cell 2003; 113: 881-9.
57. Scacheri PC, Davis S, Odom DT et al. Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis. PLoS Genet 2006; 2: 406-19.
58. Kishi M, Tsukada T, Shimizu S et al. A large germline mutation of the MEN1 gene in a family with multiple endocrine neoplasia type 1. Jpn J Cancer Res 1998; 89: 1-5.
59. Kishi M, Tsukada T, Shimizu S et al. A novel splicing mutation (894-9G→A) of the MEN1 gene responsible for multiple endocrine neoplasia type 1. Cancer Lett 1999; 142: 105-10.