PDE8A genetic variation, polycystic ovary syndrome and androgen levels in women

Molecular Human Reproduction

Volumn 15, Issue 8, 2009, Pages 459-469

  Chen, Chen ^a   Wickenheisser, Jessica ^b   Ewens, Kathryn G ^c   Ankener, Wendy ^c   Legro, Richard S ^b   Dunaif, Andrea ^d   McAllister, Jan M ^b   Spielman, Richard S ^c   Strauss III, Jerome F ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^b PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Androgens; PDE8A; Polycystic ovary syndrome; SNP; Theca

Indexed keywords

ADENYLATE CYCLASE; CYCLIC AMP; PHOSPHODIESTERASE; PHOSPHODIESTERASE 8A; PRASTERONE SULFATE; TESTOSTERONE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANDROGEN RELEASE; ANIMAL CELL; ARTICLE; CELL CULTURE; CELL LYSATE; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LEYDIG CELL; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OVARY POLYCYSTIC DISEASE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TESTOSTERONE SYNTHESIS; THECA CELL; WESTERN BLOTTING;

3',5'-CYCLIC-AMP PHOSPHODIESTERASES; AMINO ACID SEQUENCE; ANDROGENS; ANIMALS; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; COS CELLS; DEHYDROEPIANDROSTERONE SULFATE; FEMALE; GENETIC VARIATION; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; POLYCYSTIC OVARY SYNDROME; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID; TESTOSTERONE; THECA CELLS;

MUS;

EID: 67651162122     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gap035     Document Type: Article

References (31)

1. Abecasis GR, Cardon LR, Cookson WO. A general test of association for quantitative traits in nuclear families. Am J Hum Genet 2000; 66:279-292.
2. Abecasis GR, Cheryn SS, Cookson WO, Cardon LR. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002; 30:97-101.
3. Ahlström M, Pekkinen M, Huttunen M, Lamberg-Allardt C. Cyclic nucleotide phosphodiesterases (PDEs) in human osteoblastic cells; the effect of PDE inhibition on cAMP accumulation. Cell Mol Biol Lett 2005;10:305-319.
4. Beavo JA, Brunton LL. Cyclic nucleotide research - still expanding after half a century. Nat Rev Mol Cell Bio 2002;3:710-718.
5. Bender AT, Beavo JA. Cyclic nucleotide phosphodiesterases: Molecular regulation to clinical use. Pharmacol Rev 2006;58:488-520.
6. Conti M. Specificity of the cyclic adenosine 3′,5′-monophosphate signal in granulosa cell function. Biol Reprod 2002;67 1653-1661.
7. Dausset J, Cann H, Cohen D, Lathrop M, Lalouel JM, White R. Centre d'etude du polymorphisme humain (CEPH): Collaborative genetic mapping of the human genome. Genomics 1990; 6:575-577.
8. Ehrmann DA. Polycystic ovary syndrome. N Engl J Med 2005; 352 1223-1236.
9. Franks S. Polycystic ovary syndrome. N Engl J Med 1995;333 853-861 [Erratum (1995) 333:1435].
10. Hong Y, Gagnon J, Rice T, Perusse L, Leon AS, Skinner JS, Wilmore JH, Bouchard C, Rao DC. Familial resemblance for free androgens and androgen glucuronides in sedentary black and white individuals; the HERITAGE Family Study. Health, risk factors, exercise training and genetics. J Endocrinol 2001;170:485-492.
11. Kamenetsky M, Middelhaufe S, Bank EM, Levin LR, Buck J, Steegborn C. Molecular details of cAMP generation in mammalian cells: A tale of two systems. J Mol Biol 2006;362:623-639.
12. Legro RS. Polycystic ovary syndrome: The new millenium. Mol Cell Endocrinol 2001;184:87-93.
13. Legro RS, Droscoll D, Strauss JF III, Fox J, Dunaif A. Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome. Proc Natl Acad Sci USA 1998;95:14956-14960.
14. Mehats C, Andersen CB, Filopanti M, Jin SL, Conti M. Cyclic nucleotide phosphodiesterases and their role in endocrine cell signaling. Trends Endocrinol Metab 2002;13:29-35.
15. Nelson VL, Legro RS, Strauss JF 3rd, McAllister JM. Augmented androgen production is a stable steroidogenic phenotype of propagated theca cells from polycystic ovaries. Mol Endocrinol 1999;13:946-957.
16. Nikolaev VO, Gambaryan S, Engelhardt S, Walter U, Lohse MJ. Real-time monitoring of the PDE2 activity of live cells: Hormone-stimulated cAMP hydrolysis is faster than hormone-stimulated cAMP synthesis. J Biol Chem 2005;280:1716-1719.
17. Sasseville M, Albuz FK, Côté N, Guillemette C, Gilchrist RB, Richard FJ. Characterization of novel phosphodiesterases in the bovine ovarian follicle. Biol Reprod 2009 [Epub ahead of print].
18. Schwartz JH. The many dimensions of cAMP signaling. Proc Natl Acad Sci USA 2001;98:13482-13484.
19. Soderling SH, Beavo JA. Regulation of cAMP and cGMP signaling: New phosphodiesterases and new functions. Curr Opin Cell Biol 2000; 12:174-179.
20. Soderling SH, Bayuga SJ, Beavo JA. Cloning and characterization of a cAMP-specific cyclic nucleotide phosphodiesterase. Proc. Natl Acad Sci USA 1998a;95:8991-8996.
21. Soderling SH, Bayuga SJ, Beavo JA. Cloning and characterization of a cAMP-specific cyclic nucleotide phosphodiesterase. Proc Natl Acad Sci USA 1998b;95:8991-8996.
22. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus IDDM. Am J Hum Genet 1993;52:506-516.
23. Thompson WJ, Appleman MM. Multiple cyclic nucleotide phosphodiesterase activities from rat brain. Biochemistry 1971; 10:311-316.
24. Tsafriri A, Chun SY, Zhang R, Hsueh AJ, Conti M. Obcyte Maturation involves compartmentalization and opposing changes of cAMP levels in follicolar somatic and germ cells: Studies using selective phosphodiesterase inhibitors. Dev Biol 1996:178:393-402.
25. Ukkola O, Rankonen T, Gafnon J, Leon AS, Skinner JS, Wilmore JH, Rao DG, Bouchard C. A genome-wide linkage scan for steroids and SHBG levels in black and white families: The HERITAGE family study. J Clin Endocrinol Metab 2002;876:3708-3720.
26. Urbanek M, Woodroffe A. Ewens KG, Diamanti-Kandarakis E, Legro RS, Strauss JF III, Dunaif A, Spielman RS. Candidate gene region for polycystic ovary syndrome on chromosome 19p 13.2. J Clin Endocrinol Metab 2005;90:6623-6629.
27. Vasta V, Shimizu-Albergine M, Beavo JA. Modulation of Leydig cell function by cyclic nucleotide phosphodiesterase 8A. Proc Natl Acad Sci USA 2006; 103:19925-19930.
28. Wickenheisser JK, Quinn PG, Nelson VL, Legro RS, Strauss JF 3rd, McAllister, JM. Differential activity of the cytochrome P450 17alpha-hydroxylase and steroidogenic acute regulatory protein gene promoters in normal and polycystic ovary syndrome theca cells. J Clin Endocrinol Metab 2000;85:2304-2311.
29. Wickenheisser JK, Nelson-DeGrave VL, McAllister JM. Human ovarian theca cells in culture. Trends Endocrinol Metab 2006;17:65-71.
30. Wood JR, Nelson VL, Ho C, Jansen E, Wang CY, Urbanek M, McAllister JM, Mosselman S, Strauss JF 3rd. The molecular phenotype of polycystic ovary syndrome (PCOS) theca cells and new candidate PCOS genes defined by microarray analysis. J Biol Chem 2003;278:26380-26390.
31. Zaccolo M, Di Benedetto G, Lissandron V, Mancuso L, Terrin A, Zamparo I. Restricted diffusion of a freely diffusible second messenger: Mechanisms underlying compartmentalized cAMP signalling. Biochem Soc Trans 2006; 34:495-497.