Minireview: The busy road to pheochromocytomas and paragangliomas has a new member, TMEM127

Endocrinology

Volumn 152, Issue 6, 2011, Pages 2133-2140

  Jiang, Shoulei ^a   Dahia, Patricia L M ^a  

^a University of Texas Health Science Center at San Antonio   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MAMMALIAN TARGET OF RAPAMYCIN; MEMBRANE PROTEIN; TRANSMEMBRANE PROTEIN 127; UNCLASSIFIED DRUG;

GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENOTYPE; HUMAN; IN VITRO STUDY; PARAGANGLIOMA; PHENOTYPE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SHORT SURVEY; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR GENE;

HUMANS; MEMBRANE PROTEINS; NEUROENDOCRINE TUMORS; PARAGANGLIOMA; PHEOCHROMOCYTOMA;

EID: 79956307639     PISSN: 00137227     EISSN: 00137227     Source Type: Journal    
DOI: 10.1210/en.2011-0052     Document Type: Short Survey

References (65)

1. Manger WM 2006 An overview of pheochromocytoma: history, current concepts, vagaries, and diagnostic challenges. Ann NY Acad Sci 1073:1-20 (Pubitemid 44911993)
2. Fränkel F 1886 Ein Fall von doppelseitigem, völlig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veränderungen am Circulationsapparat und Retinitis. Arch Pathol Anat Physiol Klin Med 103:244-263
3. Neumann HP, Vortmeyer A, Schmidt D, Werner M, Erlic Z, Cascon A, Bausch B, Januszewicz A, Eng C 2007 Evidence of MEN-2 in the original description of classic pheochromocytoma. New Engl J Med 357:1311-1315 (Pubitemid 47481453)
4. Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard 3rd CW, Cornelisse CJ, Devilee P, Devlin B 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287:848-851 (Pubitemid 30084326)
5. Mulligan LM, Kwok JBJ, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, Ponder MA, Telenius H, Tunnacliffe A, Ponder BAJ 1993 Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363:458-460 (Pubitemid 23179393)
6. Latif F, Tory K, Gnarra J, Yao M, Duh F-M, Orcutt M-L, Stackhouse T, Kuzmin I, Modi W, Geil L, Schmidt L, Zhou F, Weng Y, Duan DR, Dean M, Glavac D, Richards FM, Crossey PA, Ferguson- Smith MA, Le Paslier D, Chumakov I, Cohen D, Chinault CA, Maher ER, Linehan WM, Zbar B, Lerman MI 1993 Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 260:1317-1320 (Pubitemid 23231974)
7. Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA, White R, O'Connell P 1990 Deletions and translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62:187-192
8. Astuti D, Hart-Holden N, Latif F, Lalloo F, Black GC, Lim C, Moran A, Grossman AB, Hodgson SV, Freemont A, Ramsden R, Eng C, Evans DG, Maher ER 2003 Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. Clin Endocrinol 59:728-733
9. Niemann S, Müller U 2000 Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26:268-270
10. Hao HX, Khalimonchuk O, Schraders M, Dephoure N, Bayley JP, Kunst H, Devilee P, Cremers CW, Schiffman JD, Bentz BG, Gygi SP, Winge DR, Kremer H, Rutter J 2009 SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 325:1139-1142
11. Burnichon N, Brière JJ, Libé R, Vescovo L, Rivière J, Tissier F, Jouanno E, Jeunemaitre X, Bénit P, Tzagoloff A, Rustin P, Bertherat J, Favier J, Gimenez-Roqueplo AP 2010 SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 19:3011-3020
12. Schlisio S, Kenchappa RS, Vredeveld LC, George RE, Stewart R, Greulich H, Shahriari K, Nguyen NV, Pigny P, Dahia PL, Pomeroy SL, Maris JM, Look AT, Meyerson M, Peeper DS, Carter BD, Kaelin Jr WG 2008 The kinesin KIF1Bβ acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. Gene Dev 22:884-893 (Pubitemid 351482842)
13. Ladroue C, Carcenac R, Leporrier M, Gad S, Le Hello C, Galateau- Salle F, Feunteun J, Pouysségur J, Richard S, Gardie B 2008 PHD2 mutation and congenital erythrocytosis with paraganglioma. N Engl J Med 359:2685-2692
14. Dahia PL 2006 Evolving concepts in pheochromocytoma and paraganglioma. Curr Opin Oncol 18:1-8 (Pubitemid 43740443)
15. Yeh IT, Lenci RE, Qin Y, Buddavarapu K, Ligon AH, Leteurtre E, Do Cao C, Cardot-Bauters C, Pigny P, Dahia PL 2008 A germline mutation of the KIF1B β gene on 1p36 in a family with neural and nonneural tumors. Hum Genet 124:279-285
16. Timmers HJ, Gimenez-Roqueplo AP, Mannelli M, Pacak K 2009 Clinical aspects of SDHx-related pheochromocytoma and paraganglioma. Endocr Relat Cancer 16:391-400
17. Qin Y, Buddavarapu K, Dahia PL 2009 Pheochromocytomas: from genetic diversity to new paradigms. Horm Metab Res 41:664-671
18. Opocher G, Schiavi F, Cicala MV, Patalano A, Mariniello B, Boaretto F, Zovato S, Pignataro V, Macino B, Negro I, Mantero F 2009 Genetics of adrenal tumors. Minerva Endocrinol 34:107-121
19. Erlic Z, Neumann HP 2009 Diagnosing patients with hereditary paraganglial tumours. Lancet Oncol 10:741
20. Mannelli M, Simi L, Gagliano MS, Opocher G, Ercolino T, Becherini L, Parenti G 2007 Genetics and biology of pheochromocytoma. Exp Clin Endocr Diab 115:160-165 (Pubitemid 46640282)
21. Cascón A, Pita G, Burnichon N, Landa I, López- Jiménez E, Montero- Conde C, Leskelä S, Leandro-García LJ, Letón R, Rodríguez- Antona C, Díaz JA, López- Vidriero E, González-Neira A, Velasco A, Matias-Guiu X, Gimenez-Roqueplo AP, Robledo M 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients. J Clin Endocrinol Metab 94:1701-1705
22. Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER 2010 Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Hum Mutat 31:41-51
23. Pasini B, Stratakis CA 2009 SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma- paraganglioma syndromes. J Intern Med 266:19-42
24. Dahia PL, Ross KN, Wright ME, Hayashida CY, Santagata S, Barontini M, Kung AL, Sanso G, Powers JF, Tischler AS, Hodin R, Heitritter S, Moore F, Dluhy R, Sosa JA, Ocal IT, Benn DE, Marsh DJ, Robinson BG, Schneider K, Garber J, Arum SM, Korbonits M, Grossman A, Pigny P, Toledo SP, Nosé V, Li C, Stiles CD 2005 A HIF1α regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet 1:72-80
25. Eisenhofer G, Huynh TT, Pacak K, Brouwers FM, Walther MM, Linehan WM, Munson PJ, Mannelli M, Goldstein DS, Elkahloun AG 2004 Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome. Endocr Relat Cancer 11:897-911 (Pubitemid 40065561)
26. Favier J, Gimenez-Roqueplo AP 2010 Pheochromocytomas: the (pseudo)-hypoxia hypothesis. Best Pract Res Clin Endocrinol Metab 24:957-968
27. López-Jiménez E, Gómez-López G, Leandro-García LJ, Muñoz I, Schiavi F, Montero-Conde C, de Cubas AA, Ramires R, Landa I, Leskelä S, Maliszewska A, Inglada-Pérez L, de la Vega L, Rodríguez- Antona C, Letón R, Bernal C, de Campos JM, Diez-Tascón C, Fraga MF, Boullosa C, Pisano DG, Opocher G, Robledo M, Cascón A 2010 Research resource: transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas. Mol Endocrinol 24:2382-2391
28. Favier J, Brière JJ, Burnichon N, Rivière J, Vescovo L, Benit P, Giscos-Douriez I, De Reyniès A, Bertherat J, Badoual C, Tissier F, Amar L, Libé R, Plouin PF, Jeunemaitre X, Rustin P, Gimenez- Roqueplo AP 2009 The Warburg effect is genetically determined in inherited pheochromocytomas. PLoS One 4:e7094
29. Pollard PJ, El-Bahrawy M, Poulsom R, Elia G, Killick P, Kelly G, Hunt T, Jeffery R, Seedhar P, Barwell J, Latif F, Gleeson MJ, Hodgson SV, Stamp GW, Tomlinson IP, Maher ER 2006 Expression of HIF-1α, HIF-2α (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations. J Clin Endocrinol Metab 91:4593-4598 (Pubitemid 44833443)
30. Powers JF, Evinger MJ, Zhi J, Picard KL, Tischler AS 2007 Pheochromocytomas in Nf1 knockout mice express a neural progenitor gene expression profile. Neuroscience 147:928-937 (Pubitemid 47102544)
31. Segouffin-Cariou C, Billaud M 2000 Transforming ability of MEN2A-RET requires activation of the phosphatidylinositol 3-kinase/ AKT signaling pathway. J Biol Chem 275:3568-3576 (Pubitemid 30083066)
32. Martin GA, Viskochil D, Bollag G, McCabe PC, Crosier WJ, Haubruck H, Conroy L, Clark R, O'Connell P, Cawthon RM, et al 1990 The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell 63:843-849 (Pubitemid 120035057)
33. Dahia PL, Hao K, Rogus J, Colin C, Pujana MA, Ross K, Magoffin D, Aronin N, Cascon A, Hayashida CY, Li C, Toledo SP, Stiles CD, Consortium. ftFP 2005 Novel Pheochromocytoma susceptibility loci identified by integrative genomics. Cancer Res 65:9651-9658 (Pubitemid 41541440)
34. Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL 2010 Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet 42:229-233
35. Lee S, Nakamura E, Yang H, Wei W, Linggi MS, Sajan MP, Farese RV, Freeman RS, Carter BD, Kaelin Jr WG, Schlisio S 2005 Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer. Cancer Cell 8:155-167 (Pubitemid 41132744)
36. Lodish MB, Stratakis CA 2010 Rare and unusual endocrine cancer syndromes with mutated genes. Semin Oncol 37:680-690
37. Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Perez L, King EE, Toledo RA, Ercolino T, Rapizzi E, Ricketts CJ, Mori L, Giacche M, Mendola A, Taschin E, Boaretto F, Loli P, Iacobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, Bex M, Vikkula M, Grossman AB, Gruber SB, Barontini M, Persu A, Castellano M, Toledo SP, Maher ER, Mannelli M, Opocher G, Robledo M, Dahia PL 2010 Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. J Amer Med Assoc 304:2611-2619
38. Burnichon N, Lepoutre-Lussey C, Laffaire J, Gadessaud N, Molinié V, Hernigou A, Plouin PF, Jeunemaitre X, Favier J, Gimenez-Roqueplo AP 2011 A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma. Eur J Endocrinol 164:141-145
39. Mannelli M, Castellano M, Schiavi F, Filetti S, Giacchè M, Mori L, Pignataro V, Bernini G, Giachè V, Bacca A, Biondi B, Corona G, Di Trapani G, Grossrubatscher E, Reimondo G, Arnaldi G, Giacchetti G, Veglio F, Loli P, Colao A, Ambrosio MR, Terzolo M, Letizia C, Ercolino T, Opocher G 2009 Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. J Clin Endocrinol Metab 94:1541-1547
40. Boedeker CC, Erlic Z, Richard S, Kontny U, Gimenez-Roqueplo AP, Cascon A, Robledo M, de Campos JM, van Nederveen FH, de Krijger RR, Burnichon N, Gaal J, Walter MA, Reschke K, Wiech T, Weber J, Rückauer K, Plouin PF, Darrouzet V, Giraud S, Eng C, Neumann HP 2009 Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. J Clin Endocrinol Metab 94:1938-1944
41. Bhaskar PT, Hay N 2007 The two TORCs and Akt. Dev Cell 12:487-502 (Pubitemid 46523652)
42. Guertin DA, Sabatini DM 2007 Defining the role of mTOR in cancer. Cancer Cell 12:9-22 (Pubitemid 47001784)
43. Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ 2007 Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet 121:389-400 (Pubitemid 46554675)
44. Zoncu R, Efeyan A, Sabatini DM 2011 mTOR: from growth signal integration to cancer, diabetes and ageing. Nat Rev Mol Cell Biol 12:21-35
45. Manning BD, Cantley LC 2003 Rheb fills a GAP between TSC and TOR. Trends Biochem Sci 28:573-576
46. Kwiatkowski DJ, Manning BD 2005 Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Hum Mol Genet 14(Spec No. 2):R251-R258
47. Sancak Y, Peterson TR, Shaul YD, Lindquist RA, Thoreen CC, Bar-Peled L, Sabatini DM 2008 The Rag GTPases bind raptor and mediate amino acid signaling to mTORC1. Science 320:1496-1501 (Pubitemid 351929429)
48. Kim E, Goraksha-Hicks P, Li L, Neufeld TP, Guan KL 2008 Regulation of TORC1 by Rag GTPases in nutrient response. Nat Cell Biol 10:935-945
49. Puria R, Zurita-Martinez SA, Cardenas ME 2008 Nuclear translocation of Gln3 in response to nutrient signals requires Golgi-toendosome trafficking in Saccharomyces cerevisiae. Proc Natl Acad Sci USA 105:7194-7199 (Pubitemid 351754454)
50. Flinn RJ, Yan Y, Goswami S, Parker PJ, Backer JM 2010 The late endosome is essential for mTORC1 signaling. Mol Biol Cell 21:833-841
51. Li L, Kim E, Yuan H, Inoki K, Goraksha-Hicks P, Schiesher RL, Neufeld TP, Guan KL 2010 Regulation of mTORC1 by the rab and ARF GTPases. J Biol Chem 285:19705-19709
52. Puria R, Cardenas ME 2008 Rapamycin bypasses vesicle-mediated signaling events to activate Gln3 in Saccharomyces cerevisiae. Commun Integr Biol 1:23-25
53. Scott KL, Kabbarah O, Liang MC, Ivanova E, Anagnostou V, Wu J, Dhakal S, Wu M, Chen S, Feinberg T, Huang J, Saci A, Widlund HR, Fisher DE, Xiao Y, Rimm DL, Protopopov A, Wong KK, Chin L 2009 GOLPH3 modulates mTOR signalling and rapamycin sensitivity in cancer. Nature 459:1085-1090
54. Sancak Y, Bar-Peled L, Zoncu R, Markhard AL, Nada S, Sabatini DM 2010 Ragulator-Rag complex targets mTORC1 to the lysosomal surface and is necessary for its activation by amino acids. Cell 141:290-303
55. Binda M, Péli-Gulli MP, Bonfils G, Panchaud N, Urban J, Sturgill TW, Loewith R, De Virgilio C 2009 The Vam6 GEF controls TORC1 by activating the EGO complex. Mol Cell 35:563-573
56. Kroemer G, Mariño G, Levine B 2010 Autophagy and the integrated stress response. Mol Cell 40:280-293
57. Collinet C, Stöter M, Bradshaw CR, Samusik N, Rink JC, Kenski D, Habermann B, Buchholz F, Henschel R, Mueller MS, Nagel WE, Fava E, Kalaidzidis Y, Zerial M 2010 Systems survey of endocytosis by multiparametric image analysis. Nature 464:243-249
58. Taelman VF, Dobrowolski R, Plouhinec JL, Fuentealba LC, Vorwald PP, Gumper I, Sabatini DD, De Robertis EM 2010 Wnt signaling requires sequestration of glycogen synthase kinase 3 inside multivesicular endosomes. Cell 143:1136-1148
59. Chen YG 2009 Endocytic regulation of TGF-β signaling. Cell Res 19:58-70
60. Di Guglielmo GM, Le Roy C, Goodfellow AF, Wrana JL 2003 Distinct endocytic pathways regulate TGF-β receptor signalling and turnover. Nat Cell Biol 5:410-421 (Pubitemid 36592263)
61. Fortini ME 2009 Notch signaling: the core pathway and its post-translational regulation. Dev Cell 16:633-647
62. Fortini ME, Bilder D 2009 Endocytic regulation of Notch signaling. Curr Opin Genet Dev 19:323-328
63. Bayley JP, Kunst HP, Cascon A, Sampietro ML, Gaal J, Korpershoek E, Hinojar-Gutierrez A, Timmers HJ, Hoefsloot LH, Hermsen MA, Suárez C, Hussain AK, Vriends AH, Hes FJ, Jansen JC, Tops CM, Corssmit EP, de Knijff P, Lenders JW, Cremers CW, Devilee P, Dinjens WN, de Krijger RR, Robledo M 2010 SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol 11:366-372
64. Wood LD, Parsons DW, Jones S, Lin J, Sjöblom T, Leary RJ, Shen D, Boca SM, Barber T, Ptak J, Silliman N, Szabo S, Dezso Z, Ustyanksky V, Nikolskaya T, Nikolsky Y, Karchin R, Wilson PA, Kaminker JS, Zhang Z, Croshaw R, Willis J, Dawson D, Shipitsin M, Willson JK, Sukumar S, Polyak K, Park BH, Pethiyagoda CL, Pant PV, Ballinger DG, Sparks AB, Hartigan J, Smith DR, Suh E, Papadopoulos N, Buckhaults P, Markowitz SD, Parmigiani G, Kinzler KW, Velculescu VE, Vogelstein B 2007 The genomic landscapes of human breast and colorectal cancers. Science 318:1108-1113 (Pubitemid 350134889)
65. McClellan J, King MC 2010 Genetic heterogeneity in human disease. Cell 141:210-217