Phosphodiesterase 11A (PDE11A) gene defects in patients with ACTH-independent macronodular adrenal hyperplasia (AIMAH): Functional variants may contribute to genetic susceptibility of bilateral adrenal tumors

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 11, 2012, Pages

  Vezzosi, Delphine ^a,b,c   Libé, Rossella ^a,b,d   Baudry, Camille ^a,b,d   Rizk Rabin, Marthe ^a,b   Horvath, Anelia ^e   Levy, Isaac ^e   René Corail, Fernande ^a   Ragazzon, Bruno ^a,b   Stratakis, Constantine A ^e   Vandecasteele, Grégoire ^f,g   Bertherat, Jérôme ^a,b,d  

^a CNRS   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c SERVICE DE PNEUMOLOGIE   (France)

^d Hôpital Cochin ^*  (France)

^e EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^f Universite Paris Sud   (France)

^g UNIVERSITÉ PARIS SACLAY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; DNA; PHOSPHODIESTERASE; PHOSPHODIESTERASE 11A; PHOSPHODIESTERASE 11A4; UNCLASSIFIED DRUG;

ADRENAL HYPERPLASIA; ADRENOCORTICOTROPIN HORMONE INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EMBRYO; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENE; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; PDE11A GENE; PDE11A4 GENE; PRIORITY JOURNAL;

ADRENAL GLAND NEOPLASMS; ADULT; CUSHING SYNDROME; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HEK293 CELLS; HUMANS; PHOSPHORIC DIESTER HYDROLASES;

EID: 84868611190     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2012-2275     Document Type: Article

References (40)

1. Roger PP, Dumont JE 1995 Thyrotropin-dependent insulin-like growth factor I mRNA expression in thyroid cells. Eur J Endocrinol 132:601-602
2. Rosenberg D, Groussin L, Bertagna X, Bertherat J 2002 cAMP pathway alterations from the cell surface to the nucleus in adrenocortical tumors. Endocr Res 28:765-775 (Pubitemid 36050044)
3. Groussin L, Massias JF, Bertagna X, Bertherat J 2000 Loss of expression of the ubiquitous transcription factor cAMP response element-binding protein (CREB) and compensatory overexpression of the activator CREMtau in the human adrenocortical cancer cell line H295R. J Clin Endocrinol Metab 85:345-354 (Pubitemid 32268836)
4. Lacroix A, Ndiaye N, Tremblay J, Hamet P 2001 Ectopic and abnormal hormone receptors in adrenal Cushing's syndrome. Endocr Rev 22:75-110 (Pubitemid 32187804)
5. Vezzosi D, Cartier D, Régnier C, Otal P, Bennet A, Parmentier F, Plantavid M, Lacroix A, Lefebvre H, Caron P 2007 Familial adrenocorticotropin- independent macronodular adrenal hyperplasia with aberrant serotonin and vasopressin adrenal receptors. Eur J Endocrinol 156:21-31 (Pubitemid 46553900)
6. Groussin L, Perlemoine K, Contesse V, Lefebvre H, Tabarin A, Thieblot P, Schlienger JL, Luton JP, Bertagna X, Bertherat J 2002 The ectopic expression of the gastric inhibitory polypeptide receptor is frequent in adrenocorticotropin- independent bilateral macronodular adrenal hyperplasia, but rare in unilateral tumors. J Clin Endocrinol Metab 87:1980-1985 (Pubitemid 34521477)
7. Bertherat J, Contesse V, Louiset E, Barrande G, Duparc C, Groussin L, EmyP, Bertagna X, Kuhn JM, Vaudry H, Lefebvre H 2005 In vivo and in vitro screening for illegitimate receptors in adrenocorticotropin-independent macronodular adrenal hyperplasia causing Cushing's syndrome: identification of two cases of gonadotropin/gastric inhibitory polypeptide-dependent hypercortisolism. J Clin Endocrinol Metab 90:1302-1310 (Pubitemid 40463980)
8. Cartier D, Lihrmann I, Parmentier F, Bastard C, Bertherat J, Caron P, Kuhn JM, Lacroix A, Tabarin A, Young J, Vaudry H, Lefebvre H 2003 Overexpression of serotonin 4 receptors in cisapride-responsive adrenocorticotropin- independent bilateral macronodular adrenal hyperplasia causing Cushing's syndrome. J Clin Endocrinol Metab 88:248-254 (Pubitemid 36115174)
9. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, SpiegelAM 1991 Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 325:1688-1695
10. Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA 2000 Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex. Nat Genet 26:89-92
11. Groussin L, Jullian E, Perlemoine K, Louvel A, Leheup B, Luton JP, Bertagna X, Bertherat J 2002 Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease. J Clin Endocrinol Metab 87:4324-4329
12. Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J 2006 A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. J Clin Endocrinol Metab 91:1943-1949
13. Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA 2009 Mutations in regulatory subunit type 1A of cyclic adenosine 5′-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab 94:2085-2091
14. Vezzosi D, Bertherat J 2011 Phosphodiesterases in endocrine physiology and disease. Eur J Endocrinol 165:177-188
15. Tsai LC, Shimizu-Albergine M, Beavo JA 2011 The high-affinity cAMP-specific phosphodiesterase 8B controls steroidogenesis in the mouse adrenal gland. Mol Pharmacol 79:639-648
16. Ceyhan O, Birsoy K, Hoffman CS 2012 Identification of biologically active PDE11-selective inhibitors using a yeast-based high-throughput screen. Chem Biol 19:155-163
17. Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libè R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA 2006 A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat Genet 38:794-800 (Pubitemid 43980600)
18. Horvath A, Giatzakis C, Tsang K, Greene E, Osorio P, Boikos S, Libè R, Patronas Y, Robinson-White A, Remmers E, Bertherat J, Nesterova M, Stratakis CA 2008 A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex. Eur J Hum Genet 16:1245-1253
19. Horvath A, Mericq V, Stratakis CA 2008 Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. N Engl J Med 358:750-752 (Pubitemid 351240774)
20. Horvath A, Giatzakis C, Robinson-White A, Boikos S, Levine E, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney JA, Bertherat J, Gregersen PK, Remmers EF, Stratakis CA 2006 Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Res 66:11571-11575 (Pubitemid 46094164)
21. Libé R, Fratticci A, Coste J, Tissier F, Horvath A, Ragazzon B, Rene-Corail F, Groussin L, Bertagna X, Raffin-Sanson ML, Stratakis CA, Bertherat J 2008 Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. Clin Cancer Res 14:4016-4024
22. Hsiao HP, Kirschner LS, Bourdeau I, Keil MF, Boikos SA, Verma S, Robinson-White AJ, Nesterova M, Lacroix A, Stratakis CA 2009 Clinical and genetic heterogeneity, overlap with other tumor syndromes, and atypical glucocorticoid hormone secretion in adrenocorticotropin-independent macronodular adrenal hyperplasia compared with other adrenocortical tumors. J Clin Endocrinol Metab 94:2930-2937
23. Libé R, Coste J, Guignat L, Tissier F, Lefebvre H, Barrande G, Ajzenberg C, Tauveron I, Clauser E, Dousset B, Bertagna X, Bertherat J, Groussin L 2010 Aberrant cortisol regulations in bilateral macronodular adrenal hyperplasia: a frequent finding in a prospective study of 32 patients with overt or subclinical Cushing's syndrome. Eur J Endocrinol 163:129-138
24. Ragazzon B, Cazabat L, Rizk-Rabin M, Assie G, Groussin L, Fierrard H, Perlemoine K, Martinez A, Bertherat J 2009 Inactivation of the Carney complex gene 1 (protein kinaseAregulatory subunit 1A) inhibits SMAD3 expression and TGF β-stimulated apoptosis in adrenocortical cells. Cancer Res 69:7278-7284
25. Nikolaev VO, Bünemann M, Hein L, Hannawacker A, Lohse MJ 2004 Novel single chain cAMP sensors for receptor-induced signal propagation. J Biol Chem 279:37215-37218 (Pubitemid 39195424)
26. Landa I, Robledo M 2011 Association studies in thyroid cancer susceptibility: are we on the right track? J Mol Endocrinol 47:R43-R58
27. Majnik J, Patocs A, Balogh K, Toth M, Gergics P, Szappanos A, Mondok A, Borgulya G, Panczel P, Prohaszka Z, Racz K 2006 Overrepresentation of the N363S variant of the glucocorticoid receptor gene in patients with bilateral adrenal incidentalomas. J Clin Endocrinol Metab 91:2796-2799 (Pubitemid 44024654)
28. Fatemi SH, King DP, Reutiman TJ, Folsom TD, Laurence JA, Lee S, Fan YT, Paciga SA, Conti M, Menniti FS 2008 PDE4B polymorphisms and decreased PDE4B expression are associated with schizophrenia. Schizophr Res 101:36-49
29. Nakayama T, Asai S, Sato N, Soma M 2007 PDE4D gene in the STRK1 region on 5q12: susceptibility gene for ischemic stroke. Curr Med Chem 14:3171-3178
30. Hartong DT, Berson EL, Dryja TP 2006 Retinitis pigmentosa. Lancet 368:1795-1809 (Pubitemid 44739028)
31. Peiró AM, Tang CM, Murray F, Zhang L, Brown LM, Chou D, Rassenti L, Kipps TA, Insel PA 2011 Genetic variation in phosphodiesterase (PDE) 7B in chronic lymphocytic leukemia: overview of genetic variants of cyclic nucleotide PDEs in human disease. J Hum Genet 56:676-681
32. Wong ML, Whelan F, Deloukas P, Whittaker P, Delgado M, Cantor RM, McCann SM, Licinio J 2006 Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment response. Proc Natl Acad Sci USA 103:15124-15129 (Pubitemid 44583175)
33. Liao YC, Lin HF, Guo YC, Yu ML, Liu CK, Juo SH 2010 Sex-differential genetic effect of phosphodiesterase 4D (PDE4D) on carotid atherosclerosis. BMC Med Genet 11:93
34. Homma S, Sakamoto T, Hegab AE, Saitoh W, Nomura A, Ishii Y, Morishima Y, Iizuka T, Kiwamoto T, Matsuno Y, Massoud HH, Massoud HM, Hassanein KM, Sekizawa K 2006 Association of phosphodiesterase 4D gene polymorphisms with chronic obstructive pulmonary disease: relationship to interleukin 13 gene polymorphism. Int J Mol Med 18:933-939
35. DeWan AT, Triche EW, Xu X, Hsu LI, Zhao C, Belanger K, Hellenbrand K, Willis-Owen SA, Moffatt M, Cookson WO, Himes BE, Weiss ST, Gauderman WJ, Baurley JW, Gilliland F, Wilk JB, O'Connor GT, Strachan DP, Hoh J, Bracken MB 2010 PDE11A associations with asthma: results of a genome-wide association scan. J Allergy Clin Immunol 126:871-873.e9
36. Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, Merino M, Bertherat J, Stratakis CA 2009 Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. Cancer Res 69:5301-5306
37. Faucz FR, Horvath A, Rothenbuhler A, Almeida MQ, Libé R, Raffin-SansonML,Bertherat J, CarraroDM,Soares FA, Molina Gde C, Campos AH, Alexandre RB, Bendhack ML, Nesterova M, Stratakis CA 2011 Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer. J Clin Endocrinol Metab 96:E135-E140
38. Libé R, Horvath A, Vezzosi D, Fratticci A, Coste J, Perlemoine K, Ragazzon B, Guillaud-Bataille M, Groussin L, Clauser E, Raffin-Sanson ML, Siegel J, Moran J, Drori-Herishanu L, Faucz FR, Lodish M, Nesterova M, Bertagna X, Bertherat J, Stratakis CA 2011 Frequent phosphodiesterase11Agene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype. J Clin Endocrinol Metab 96:E208-E214
39. Rothenbuhler A, Horvath A, Libé R, Faucz FR, Fratticci A, Raffin Sanson ML, Vezzosi D, Azevedo M, Levy I, Almeida MQ, Lodish M, Nesterova M, Bertherat J, Stratakis CA 2012 Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumors. Clin Endocrinol (Oxf) 77:195-199
40. Yuasa K, Omori K, Yanaka N 2000 Binding and phosphorylation of a novel male germ cell-specific cGMP-dependent protein kinase-anchoring protein by cGMP-dependent protein kinase Iα. J Biol Chem 275:4897-4905 (Pubitemid 30108883)