Preliminary molecular genetic analysis of the Receptor Interacting Protein 140 (RIP140) in women affected by endometriosis

Journal of Experimental and Clinical Assisted Reproduction

Volumn 2, Issue , 2005, Pages

  Caballero, Virginia ^b   Ruiz, Rocío ^a   Sainz, José Antonio ^b   Cruz, Marina ^b   López Nevot, Miguel Angel ^c   Galán, José Jorge ^a   Real, Luis Miguel ^a   De Castro, Francisco ^d   López Villaverde, Vicente ^b   Ruiz, Agustín ^a  

^a Edf Acrópolis 110 1 ^*  (Spain)

^b HOSPITAL UNIVERSITARIO DE VALME   (Spain)

^c HOSPITAL UNIVERSITARIO VIRGEN DE LAS NIEVES   (Spain)

^d HOSPITAL UNIVERSITARIO PRÍNCIPE DE ASTURIAS   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; RECEPTOR INTERACTING PROTEIN 140;

AMINO ACID SEQUENCE; ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA POLYMORPHISM; ENDOMETRIOSIS; FEMALE; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE;

EID: 26244438723     PISSN: 17431050     EISSN: 17431050     Source Type: Journal    
DOI: 10.1186/1743-1050-2-11     Document Type: Article

References (34)

1. Bulum SE, Zeitoun KM, Takayama K, Sasano H: Estrogen biosynthesis in endometriosis: molecular basis and clinical relevance. J Mol Endocrinol 2000, 25:35-42.
2. Donnez J, Thomas K: Incidence of luteinized unruptured follicle syndrome in fertile women and women with endometriosis. Eur J Obstet Gynecol Reprod Biol 1982, 14:187-190.
3. White R, Leonardsson G, Rosewell I, Ann Jacobs M, Milligan S, Parker M: The nuclear receptor co-repressor Nrip1 (RIP140) is essential for female fertility. Nat Med 2000, 6:1368-1374.
4. Garća-Velasco JA, Arici A: Is the endometrium or oocyte/embryo affected in endometriosis? Hum Reprod 1999, 2:77-89.
5. Vercammen EE, D'Hooghe TM: Endometriosis and recurrent pregnancy loss. Semin Reprod Med 2000, 18:363-368.
6. Leonardsson G, Steel JH, Christian M, Pocock V, Milligan S, Bell J, So PW, Medina-Gomez G, Vidal-Puig A, White R, Parker MG: Nuclear receptor corepressor RIP140 regulates fat accumulation. Proc Natl Acad Sci U S A 2004, 101:8437-42.
7. American Society for Reproductive Medicine: Revised American Society for Reproductive Medicine classification of endometriosis: 1996. Fertil Steril 1997, 67:817-821.
8. Cavailles V, Dauvois S, L'Horset F, Lopez G, Hoare S, Kushner PJ, Parker MG: Nuclear factor RIP140 modulates transcriptional activation by the estrogen receptor. EMBO J 1995, 14:3741-3751.
9. den Dunnen JT, Antonarakis SE: Nomenclature for the description of human sequence variations. Hum Genet 2001, 109:121-124.
10. Gonzalez A, Abril E, Roca A, Aragon MJ, Figueroa MJ, Velarde P, Royo JL, Real LM, Ruiz A: CAPN10 alleles are associated with polycystic ovary syndrome. J Clin Endocrinol Metab 2002, 87:3971-3976.
11. Sasieni PD: From genotypes to genes: doubling the sample size. Biometrics 1997, 53:1253-1261.
12. Georgiou I, Syrrou M, Bouba I, Dalkalitsis N, Paschopoulos M, Navrozoglou I, Lolis D: Association of estrogen receptor gene polymorphisms with endometriosis. Fertil Steril 1999, 72:64-66.
13. Kado N, Kitawaki J, Obayashi H, Ishihara H, Koshiba H, Kusuki I, Tsukamoto K, Hasegawa G, Nakamura N, Yoshikawa T, Honjo H: Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women. Hum Reprod 2002, 17:897-902.
14. Wieser F, Schneeberger C, Tong D, Tempfer C, Huber JC, Wenzl R: PROGINS receptor gene polymorphism is associated with endometriosis. Fertil Steril 2002, 77:309-312.
15. Dogan S, Machicao F, Wallwiener D, Haering HU, Diedrich K, Hornung D: Association of peroxisome proliferator-activated receptor gamma 2 Pro-12-Ala polymorphism with endometriosis. Fertil Steril 2004, 81:1411-1413.
16. Baranova H, Canis M, Ivaschenko T, Albuisson E, Bothorishvilli R, Baranov V, Malet P, Bruhat MA: Possible involvement of arylamine N-acetyltransferase 2, glutathione S-transferases M1 and T1 genes in the development of endometriosis. Mol Hum Reprod 1999, 5:636-641.
17. Arvanitis DA, Goumenou AG, Matalliotakis IM, Koumantakis EE, Spandidos DA: Low-penetrance genes are associated with increased susceptibility to endometriosis. Fertil Steril 2001, 76:1202-1206.
18. Arvanitis DA, Koumantakis GE, Goumenou AG, Matalliotakis IM, Koumantakis EE, Spandidos DA: CYP1A1, CYP19, and GSTM1 polymorphisms increase the risk of endometriosis. Fertil Steril 2003:702-709.
19. Moutsatsou P, Sekeris CE: Steroid receptors in the uterus: implications in endometriosis. Ann N Y Acad Sci 2003, 997:209-222.
20. Kitawaki J, Kado N, Ishihara H, Koshiba H, Kitaoka Y, Honjo H: Endometriosis: the pathophysiology as an estrogen-dependent disease. J Steroid Biochem Mol Biol 2002, 83:149-155.
21. Kastner P, Mark M, Leid M, Gansmuller A, Chin W, Grondona JM, Decimo D, Krezel W, Dierich A, Chambon P: Abnormal spermatogenesis in RXR beta mutant mice. Genes Dev 1996, 10:80-92.
22. Dupont S, Krust A, Gansmuller A, Dierich A, Chambon P, Mark M: Effect of single and compound knockouts of estrogen receptors alpha (ERalpha) and beta (ERbeta) on mouse reproductive phenotypes. Development 2000, 127:4277-4291.
23. Cui Y, Miyoshi K, Claudio E, Siebenlist UK, Gonzalez FJ, Flaws J, Wagner KU, Hennighausen L: Loss of the peroxisome proliferationactivated receptor gamma (PPARgamma) does not affect mammary development and propensity for tumor formation but leads to reduced fertility. J Biol Chem 2002, 17:17830-17835.
24. Nakamura T, Yao R, Ogawa T, Suzuki T, Ito C, Tsunekawa N, Inoue K, Ajima R, Miyasaka T, Yoshida Y, Ogura A, Toshimori K, Noce T, Yamamoto T, Noda T: Oligo-astheno-teratozoospermia in mice lacking Cnot7, a regulator of retinoid X receptor beta. Nat Genet 2004, 36:528-533.
25. Hoh J, Ott J: Genetic dissection of diseases: design and methods. Curr Opin Genet Dev 2004, 14:229-232.
26. Lohnes D, Kastner P, Dierich A, Mark M, LeMeur M, Chambon P: Function of retinoic acid receptor gamma in the mouse. Cell 1993, 21:643-658.
27. Dufour JM, Vo MN, Bhattacharya N, Okita J, Okita R, Kim KH: Peroxisome proliferators disrupt retinoic acid receptor alpha signaling in the testis. Biol Reprod 2003, 68:1215-1224.
28. Cohen JC, Kiss RS, Pertsemlidis A, Marcel YL, McPherson R, Hobbs HH: Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 2004, 305:869-872.
29. Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN: Metaanalysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 2003, 33:177-182.
30. Zilliacus J, Holter E, Wakui H, Tazawa H, Treuter E, Gustafsson JA: Regulation of glucocorticoid receptor activity by 14-3-3-dependent intracellular relocalization of the corepressor RIP140. Mol Endocrinol 2001, 15:501-511.
31. Ohtake F, Takeyama K, Matsumoto T, Kitagawa H, Yamamoto Y, Nohara K, Tohyama C, Krust A, Mimura J, Chambon P, Yanagisawa J, Fujii-Kuriyama Y, Kato S: Modulation of oestrogen receptor signalling by association with the activated dioxin receptor. Nature 2003, 423:545-550.
32. Kumar MB, Tarpey RW, Perdew GH: Differential recruitment of coactivator RIP140 by Ah and estrogen receptors. Absence of a role for LXXLL motifs. J Biol Chem 1999, 274:22155-22164.
33. Peters GA, Khan SA: Estrogen receptor domains E and F: role in dimerization and interaction with coactivator RIP-140. Mol Endocrinol 1999, 13:286-296.
34. Galan JJ, Buch B, Cruz N, Segura A, Moron FJ, Bassas L, Martinez-Pineiro L, Real LM, Ruiz A: Multilocus analyses of estrogenrelated genes reveal the involvement of ESR1 gene in male infertility and the polygenic nature of the pathology. Fertil Steril in press.