Analysis of CGG repeats in FMR1 in Chinese women with idiopathic premature ovarian failure

Reproductive BioMedicine Online

Volumn 29, Issue 3, 2014, Pages 382-387

  Ye, Yuqin ^a   Lan, Xiaoping ^b   Cong, Jin ^a   Li, Na ^c   Wu, Yiming ^b   Zhang, Min ^a   Liu, Jiayin ^a   Cui, Yugui ^a   Wu, Bai Lin ^b   An, Yu ^b   Wu, Jie ^a  

^a NANJING MEDICAL UNIVERSITY   (China)

^b FUDAN UNIVERSITY   (China)

^c CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

AGG interruption; CGG repeat; FMR1; Intermediate; Premature ovarian failure

Indexed keywords

FOLLITROPIN; FRAGILE X MENTAL RETARDATION PROTEIN; FMR1 PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; CGG REPEAT; CHINESE; CONTROLLED STUDY; DNA STRUCTURE; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PREMATURE OVARIAN FAILURE; ASIAN CONTINENTAL ANCESTRY GROUP; CASE CONTROL STUDY; CHINA; GENETICS; TRINUCLEOTIDE REPEAT;

ADULT; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHINA; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; HUMANS; PRIMARY OVARIAN INSUFFICIENCY; TRINUCLEOTIDE REPEATS;

EID: 84920692666     PISSN: 14726483     EISSN: 14726491     Source Type: Journal    
DOI: 10.1016/j.rbmo.2014.05.004     Document Type: Article

References (30)

1. Allen, E.G., Sullivan, A.K., Marcus, M., Small, C., Dominguez, C., Epstein, M.P., Charen, K., He, W., Taylor, K.C., Sherman, S.L., 2007. Examination of reproductive aging milestones among women who carry the FMR1 premutation. Hum. Reprod. 22, 2142-2152.
2. Allingham-Hawkins, D.J., Babul-Hirji, R., Chitayat, D., Holden, J.J., Yang, K.T., Lee, C., Hudson, R., Gorwill, H., Nolin, S.L., Glicksman, A., Jenkins, E.C., Brown, W.T., Howard-Peebles, P.N., Becchi, C., Cummings, E., Fallon, L., Seitz, S., Black, S.H., Vianna-Morgante, A.M., Costa, S.S., Otto, P.A., Mingroni-Netto, R.C., Murray, A., Webb, J., Vieri, F., MacSwinney, F., Dennis, N., Jacobs, P.A., Syrrou, M., Georgiou, I., Patsalis, P.C., Giovannucci Uzielli, M.L., Guarducci, S., Lapi, E., Cecconi, A., Ricci, U., Ricotti, G., Biondi, C., Scarselli, B., Vieri, F., 1999. Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study-preliminary data. Am. J. Med. Genet. 83, 322-325.
3. Basehore, M.J., Marlowe, N.M., Jones, J.R., Behlendorf, D.E., Laver, T.A., Friez, M.J., 2012. Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1. Genet. Test. Mol. Biomarkers 16, 465-470.
4. Bennett, C.E., Conway, G.S., Macpherson, J.N., Jacobs, P.A., Murray, A., 2010. Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure. Hum. Reprod. 25, 1335-1338.
5. Bodega, B., Bione, S., Dalpra, L., Toniolo, D., Ornaghi, F., Vegetti, W., Ginelli, E., Marozzi, A., 2006. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum. Reprod. 21, 952-957.
6. Bretherick, K.L., Fluker, M.R., Robinson, W.P., 2005. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum. Genet. 117, 376-382.
7. Burton, K.A., Van Ee, C.C., Purcell, K., Winship, I., Shelling, A.N., 2000. Autosomal translocation associated with premature ovarian failure. J. Med. Genet. 37, E2.
8. Chatterjee, S., Maitra, A., Kadam, S., Patel, Z., Gokral, J., Meherji, P., 2009. CGG repeat sizing in the FMR1 gene in Indian women with premature ovarian failure. Reprod. Biomed. Online 19, 281-286.
9. Chiu, H.H., Tseng, Y.T., Hsiao, H.P., Hsiao, H.H., 2008. The AGG interruption pattern within the CGG repeat of the FMR1 gene among Taiwanese population. J. Genet. 87, 275-277.
10. Conway, G.S., Payne, N.N., Webb, J., Murray, A., Jacobs, P.A., 1998. Fragile X premutation screening in women with premature ovarian failure. Hum. Reprod. 13, 1184-1187.
11. De Vos, M., Devroey, P., Fauser, B.C., 2010. Primary ovarian insufficiency. Lancet 376, 911-921.
12. Eichler, E.E., Nelson, D.L., 1996. Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations. Am. J. Med. Genet. 64, 220-225.
13. Eichler, E.E., Hammond, H.A., Macpherson, J.N., Ward, P.A., Nelson, D.L., 1995. Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions. Hum. Mol. Genet. 4, 2199-2208.
14. Fu, Y.H., Kuhl, D.P., Pizzuti, A., Pieretti, M., Sutcliffe, J.S., Richards, S., Verkerk, A.J., Holden, J.J., Fenwick, R.G., Jr., Warren, S.T., Oostra, B.A., Nelson, D.L., Caskey, C.T., 1991. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67, 1047-1058.
15. Gleicher, N., Barad, D.H., 2010. The FMR1 gene as regulator of ovarian recruitment and ovarian reserve. Obstet. Gynecol. Surv. 65, 523-530.
16. Hagerman, P.J., Hagerman, R.J., 2004. The fragile-X premutation: a maturing perspective. Am. J. Med. Genet. 74, 805-816.
17. Kalantaridou, S.N., Nelson, L.M., 2000. Premature ovarian failure is not premature menopause. Ann. N. Y. Acad. Sci. 900, 393-402.
18. Karimov, C.B., Moragianni, V.A., Cronister, A., Srouji, S., Petrozza, J., Racowsky, C., Ginsburg, E., Thornton, K.L., Welt, C.K., 2011. Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function. Hum. Reprod. 26, 2077-2083.
19. Kline, J., Kinney, A., Brown, S., Levin, B., Oppenheimer, K., Warburton, D., 2012. Trisomic pregnancy and intermediate CGG repeat length at the FMR1 locus. Hum. Reprod. 27, 2224-2232.
20. Kline, J.K., Kinney, A.M., Levin, B., Brown, S.A., Hadd, A.G., Warburton, D., 2014. Intermediate CGG repeat length at the FMR1 locus is not associated with hormonal indicators of ovarian age. Menopause [Epub ahead of print].
21. Nolin, S.L., Sah, S., Glicksman, A., Sherman, S.L., Allen, E., Berry-Kravis, E., Tassone, F., Yrigollen, C., Cronister, A., Jodah, M., Ersalesi, N., Dobkin, C., Brown, W.T., Shroff, R., Latham, G.J., Hadd, A.G., 2013. Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am. J. Med. Genet. Part A 161, 771-778.
22. Panay, N., Kalu, E., 2009. Management of premature ovarian failure. Best. Pract. Res. Clin. Obstet. Gynaecol. 23, 129-140.
23. Schuettler, J., Peng, Z., Zimmer, J., Sinn, P., von Hagens, C., Strowitzki, T., Vogt, P.H., 2011. Variable expression of the Fragile X Mental Retardation 1 (FMR1) gene in patients with premature ovarian failure syndrome is not dependent on number of (CGG) n triplets in exon 1. Hum. Reprod. 26, 1241-1251.
24. Sherman, S., Pletcher, B.A., Driscoll, D.A., 2005. Fragile X syndrome: diagnostic and carrier testing. Genet. Med. 7, 584-587.
25. Streuli, I., Fraisse, T., Ibecheole, V., Moix, I., Morris, M.A., de Ziegler, D., 2009. Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency. Fertil. Steril. 92, 464-470.
26. Sullivan, A.K., Marcus, M., Epstein, M.P., Allen, E.G., Anido, A.E., Paquin, J.J., Yadav-Shah, M., Sherman, S.L., 2005. Association of FMR1 repeat size with ovarian dysfunction. Hum. Reprod. 20, 402-412.
27. Verkerk, A.J., Pieretti, M., Sutcliffe, J.S., Fu, Y.H., Kuhl, D.P., Pizzuti, A., Reiner, O., Richards, S., Victoria, M.F., Zhang, F.P., Eussen, B.E., van Ommen, G.B., Blonden, L.A.J., Riggins, G.J., Chastain, J.L., Kunst, C.B., Galjaard, H., Caskey, C.T., Nelson, D.L., Oostra, B.A., Warren, S.T., 1991. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905-914.
28. Voorhuis, M., Onland-Moret, N.C., Fauser, B.C., Ploos van Amstel, H.K., van der Schouw, Y.T., Broekmans, F.J., 2013. The association of CGG repeats in the FMR1 gene and timing of natural menopause. Hum. Reprod. 28, 496-501.
29. Wittenberger, M.D., Hagerman, R.J., Sherman, S.L., McConkie-Rosell, A., Welt, C.K., Rebar, R.W., Corrigan, E.C., Simpson, J.L., Nelson, L.M., 2007. The FMR1 premutation and reproduction. Fertil. Steril. 87, 456-465.
30. Yrigollen, C.M., Tassone, F., Durbin-Johnson, B., 2011. The role of AGG interruptions in the transcription of FMR1 premutation alleles. PLoS ONE 6, e21728.