References
- Ahmad, H.I., Liu, G., Jiang, X., Edallew, S.G., Wassie, T., Tesema, B., … Jilong, H. (2017). Maximum-likelihood approaches reveal signatures of positive selection in BMP15 and GDF9 genes modulating ovarian function in mammalian female fertility. Ecology and Evolution, 7, 8895–8902. doi: https://doi.org/10.1002/ece3.3336.
- Al-Ajoury, R., Kassem, E., Al-Halabi, B., Moassess, F., & Al-Achkar, W. (2015). Investigation of some genetic variations in BMP15 accompanied with premature ovarian failure (POF) in Syrian women. Middle East Fertility Society Journal, 20, 91–96. doi: https://doi.org/10.1016/j.mefs.2014.02.005.
- Belli, M., & Shimasaki, S. (2018). Molecular aspects and clinical relevance of GDF9 and BMP15 in ovarian function. Vitamins and Hormones, 107, 317–348. doi: https://doi.org/10.1016/bs.vh.2017.12.003.
- Bouali, N., Francou, B., Bouligand, J., Lakhal, B., Malek, I., Kammoun, M., … Guiochon-Mantel, A. (2016). NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency. Clinical Genetics, 89, 608–613. doi: https://doi.org/10.1111/cge.12750.
- Bouilly, J., Beau, I., Barraud, S., Bernard, V., Azibi, K., Fagart, J., … Binart, N. (2016). Identification of multiple gene mutations accounts for a new genetic architecture of primary ovarian insufficiency. The Journal of Clinical Endocrinology & Metabolism, 101, 4541–4550. doi: https://doi.org/10.1210/jc.2016-2152.
- de Castro, F.C., Cruz, M.H., & Leal, C.L. (2016). Role of growth differentiation factor 9 and bone morphogenetic protein 15 in ovarian function and their importance in mammalian female fertility – a review. Asian-Australasian Journal of Animal Sciences, 29, 1065–1074. doi: https://doi.org/10.5713/ajas.15.0797.
- De Los Reyes, M., Rojas, C., Parraguez, V.H., & Palomino, J. (2013). Expression of growth differentiation factor 9 (GDF-9) during in vitro maturation in canine oocytes. Theriogenology, 80, 587–596. doi: https://doi.org/10.1016/j.theriogenology.2013.06.001.
- Di Pasquale, E., Beck-Peccoz, P., & Persani, L. (2004). Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. The American Journal of Human Genetics, 75, 106–111. doi: https://doi.org/10.1086/422103.
- Dixit, H., Rao, L.K., Padmalatha, V., Kanakavalli, M., Deenadayal, M., Gupta, N., … Singh, L. (2005). Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure. Menopause, 12, 749–754. doi: https://doi.org/10.1097/01.gme.0000184424.96437.7a.
- Dixit, H., Rao, L.K., Padmalatha, V.V., Kanakavalli, M., Deenadayal, M., Gupta, N., … Singh, L. (2006). Missense mutations in the BMP15 gene are associated with ovarian failure. Human Genetics, 119, 408–415. doi: https://doi.org/10.1007/s00439-006-0150-0.
- Dube, J.L., Wang, P., Elvin, J., Lyons, K.M., Celeste, A.J., & Matzuk, M.M. (1998). The bone morphogenetic protein 15 gene is X-linked and expressed in oocytes. Molecular Endocrinology, 12, 1809–1817. doi: https://doi.org/10.1210/mend.12.12.0206.
- Field, S.L., Dasgupta, T., Cummings, M., & Orsi, N.M. (2014). Cytokines in ovarian folliculogenesis, oocyte maturation and luteinisation. Molecular Reproduction and Development, 81, 284–314. doi: https://doi.org/10.1002/mrd.22285.
- Fonseca, D.J., Ortega-Recalde, O., Esteban-Perez, C., Moreno-Ortiz, H., Patiño, L.C., Bermúdez, O.M., … Laissue, P. (2014). BMP15 c.-9C > G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure. Reproductive Biomedicine Online, 29, 627–633. doi: https://doi.org/10.1016/j.rbmo.2014.07.018.
- Fortuno, C., & Labarta, E. (2014). Genetics of primary ovarian insufficiency: A review. Journal of Assisted Reproduction and Genetics, 31, 1573–1585. doi: https://doi.org/10.1007/s10815-014-0342-9.
- Gao, Y., Wen, H., Wang, C., & Li, Q. (2013). SMAD7 antagonizes key TGFbeta superfamily signalling in mouse granulosa cells in vitro. Reproduction, 146, 1–11. doi: https://doi.org/10.1530/REP-13-0093.
- Gilchrist, R.B., Lane, M., & Thompson, J.G. (2008). Oocyte-secreted factors: Regulators of cumulus cell function and oocyte quality. Human Reproduction Update, 14, 159–177. doi: https://doi.org/10.1093/humupd/dmm040.
- Gode, F., Gulekli, B., Dogan, E., Korhan, P., Dogan, S., Bige, O., … Atabey, N. (2011). Influence of follicular fluid GDF9 and BMP15 on embryo quality. Fertility and Sterility, 95, 2274–2278. doi: https://doi.org/10.1016/j.fertnstert.2011.03.045.
- Golezar, S., Ramezani Tehrani, F., Khazaei, S., Ebadi, A., & Keshavarz, Z. (2019). The global prevalence of primary ovarian insufficiency and early menopause: A meta-analysis. Climacteric, 22, 403–411. doi: https://doi.org/10.1080/13697137.2019.1574738.
- Heath, D.A., Pitman, J.L., & McNatty, K.P. (2017). Molecular forms of ruminant BMP15 and GDF9 and putative interactions with receptors. Reproduction, 154, 521–534. doi: https://doi.org/10.1530/REP-17-0188.
- Huhtaniemi, I., Hovatta, O., La Marca, A., Livera, G., Monniaux, D., Persani, L., … Misrahi, M. (2018). Advances in the molecular pathophysiology, genetics, and treatment of primary ovarian insufficiency. Trends in Endocrinology & Metabolism, 29, 400–419. doi: https://doi.org/10.101/j.tem.2018.03.010.
- Juarez-Rendon, K.J., & Garcia-Ortiz, J.E. (2018). Evaluation of four genes associated with primary ovarian insufficiency in a cohort of Mexican women. Journal of Assisted Reproduction and Genetics, 35, 1483–1488. doi: https://doi.org/10.1007/s10815-018-1232-3.
- Kristensen, S.G., Andersen, K., Clement, C.A., Franks, S., Hardy, K., & Andersen, C.Y. (2014). Expression of TGF-beta superfamily growth factors, their receptors, the associated SMADs and antagonists in five isolated size-matched populations of pre-antral follicles from normal human ovaries. MHR: Basic Science of Reproductive Medicine, 20, 293–308. doi: https://doi.org/10.1093/molehr/gat089.
- Kumar, R., Alwani, M., Kosta, S., Kaur, R., & Agarwal, S. (2017). BMP15 and GDF9 gene mutations in premature ovarian failure. Journal of Reproduction & Infertility, 18, 185–189. Retrieved from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359856/
- Laissue, P. (2018). The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing. Molecular and Cellular Endocrinology, 460, 170–180. doi: https://doi.org/10.1016/j.mce.2017.07.021.
- Laissue, P., Christin-Maitre, S., Touraine, P., Kuttenn, F., Ritvos, O., Aittomaki, K., … Veitia, R.A. (2006). Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. European Journal of Endocrinology, 154, 739–744. doi: https://doi.org/10.1530/eje.1.02135.
- Li, Y., Li, RQ., Ou, SB., Zhang, NF., Ren, L., Wei, LN., … Yang, DZ. (2014). Increased GDF9 and BMP15 mRNA levels incumulus granulosa cells correlate with oocytematuration, fertilization, and embryo quality in humans. Reproductive Biology and Endocrinology, 12, 81. doi: https://doi.org/10.1186/1477-7827-12-81.
- Liu, L., Rajareddy, S., Reddy, P., Du, C., Jagarlamudi, K., Shen, Y., … Liu, K. (2007). Infertility caused by retardation of follicular development in mice with oocyte-specific expression of Foxo3a. Development, 134, 199–209. doi: https://doi.org/10.1242/dev.02667.
- Lochab, A.K., & Extavour, C.G. (2017). Bone Morphogenetic Protein (BMP) signaling in animal reproductive system development and function. Developmental Biology, 427, 258–269. doi: https://doi.org/10.1016/j.ydbio.2017.03.002.
- Ma, L., Chen, Y.A.N., Mei, S.I., Liu, C., Ma, X., Li, Y., … Xu, X. (2015). Single nucleotide polymorphisms in premature ovarian failure-associated genes in a Chinese Hui population. Molecular Medicine Reports, 12, 2529–2538. doi: https://doi.org/10.3892/mmr.2015.3762.
- Mayer, A., Fouquet, B., Pugeat, M., & Misrahi, M. (2017). BMP15 “knockout-like” effect in familial premature ovarian insufficiency with persistent ovarian reserve. Clinical Genetics, 92, 208–212. doi: https://doi.org/10.1111/cge.12970.
- Mottershead, D.G., Sugimura, S., Al-Musawi, S.L., Li, J.-J., Richani, D., White, M.A., … Gilchrist, R.B. (2015). Cumulin, an oocyte-secreted heterodimer of the transforming growth factor-beta family, is a potent activator of granulosa cells and improves oocyte quality. Journal of Biological Chemistry, 290, 24007–24020. doi: https://doi.org/10.1074/jbc.M115.671487.
- Nelson, L.M. (2009). Primary ovarian insufficiency. New England Journal of Medicine, 360, 606–614. doi: https://doi.org/10.1056/NEJMcp0808697.
- Norling, A., Hirschberg, A.L., Rodriguez-Wallberg, K.A., Iwarsson, E., Wedell, A., & Barbaro, M. (2014). Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform. Human Reproduction, 29, 1818–1827. doi: https://doi.org/10.1093/humrep/deu149.
- Otsuka, F., & Inagaki, K. (2011). Unique bioactivities of bone morphogenetic proteins in regulation of reproductive endocrine functions. Reproductive Medicine and Biology, 10, 131–142. doi: https://doi.org/10.1007/s12522-011-0082-9.
- Otsuka, F., McTavish, K.J., & Shimasaki, S. (2011). Integral role of GDF-9 and BMP-15 in ovarian function. Molecular Reproduction and Development, 78, 9–21. doi: https://doi.org/10.1002/mrd.21265.
- Palomino, J., & De Los Reyes, M. (2016). Temporal expression of GDF-9 and BMP-15 mRNAs in canine ovarian follicles. Theriogenology, 86, 1541–1549. doi: https://doi.org/10.1016/j.theriogenology.2016.05.013.
- Paulini, F., & Melo, E.O. (2011). The role of oocyte-secreted factors GDF9 and BMP15 in follicular development and oogenesis. Reproduction in Domestic Animals, 46, 354–361. doi: https://doi.org/10.1111/j.1439-0531.2010.01739.x.
- Pelosi, E., Forabosco, A., & Schlessinger, D. (2015). Genetics of the ovarian reserve. Frontiers in Genetics, 6, 308. doi: https://doi.org/10.3389/fgene.2015.00308.
- Peng, J., Li, Q., Wigglesworth, K., Rangarajan, A., Kattamuri, C., Peterson, R.T., … Matzuk, M.M. (2013). Growth differentiation factor 9: bone morphogenetic protein 15 heterodimers are potent regulators of ovarian functions. Proceedings of the National Academy of Sciences U Sciences, 110, E776–785. doi: https://doi.org/10.1073/pnas.1218020110.
- Persani, L., Rossetti, R., & Cacciatore, C. (2010). Genes involved in human premature ovarian failure. Journal of Molecular Endocrinology, 45, 257–279. doi: https://doi.org/10.1677/JME-10-0070.
- Persani, L., Rossetti, R., Di Pasquale, E., Cacciatore, C., & Fabre, S. (2014). The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders. Human Reproduction Update, 20, 869–883. doi: https://doi.org/10.1093/humupd/dmu036.
- Qin, Y., Jiao, X., Simpson, J.L., & Chen, Z.J. (2015). Genetics of primary ovarian insufficiency: New developments and opportunities. Human Reproduction Update, 21, 787–808. doi: https://doi.org/10.1093/humupd/dmv03.
- Rossetti, R., Di Pasquale, E., Marozzi, A., Bione, S., Toniolo, D., Grammatico, P., … Persani, L. (2009). BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein. Human Mutation, 30, 804–810. doi: https://doi.org/10.1002/humu.20961.
- Rossetti, R., Ferrari, I., Bonomi, M., & Persani, L. (2017). Genetics of primary ovarian insufficiency. Clinical Genetics, 91, 183–198. doi: https://doi.org/10.1111/cge.12921.
- Sanfins, A., Rodrigues, P., & Albertini, D.F. (2018). GDF-9 and BMP-15 direct the follicle symphony. Journal of Assisted Reproduction and Genetics, 35, 1741–1750. doi: https://doi.org/10.1007/s10815-018-1268-4.
- Serdynska-Szuster, M., Jedrzejczak, P., Ozegowska, K.E., Holysz, H., Pawelczyk, L., & Jagodzinski, P.P. (2016). Effect of growth differentiation factor9 C447T and G546A polymorphisms on the outcomes of in vitro fertilization. Molecular Medicine Reports, 13, 4437–4442. doi: https://doi.org/10.3892/mmr.2016.5060.
- Sugiura, K., Su, Y.Q., Li, Q., Wigglesworth, K., Matzuk, M.M., & Eppig, J.J. (2010). Estrogen promotes the development of mouse cumulus cells in coordination with oocyte-derived GDF9 and BMP15. Molecular Endocrinology, 24, 2303–2314. doi: https://doi.org/10.1210/me.2010-0260.
- Sullivan, S.D., Sarrel, P.M., & Nelson, L.M. (2016). Hormone replacement therapy in young women with primary ovarian insufficiency and early menopause. Fertility and Sterility, 106, 1588–1599. doi: https://doi.org/10.1016/j.fertnstert.2016.09.046.
- Takebayashi, K., Takakura, K., Wang, H.-Q., Kimura, F., Kasahara, K., & Noda, Y. (2000). Mutation analysis of the growth differentiation factor-9 and -9B genes in patients with premature ovarian failure and polycystic ovary syndrome. Fertility and Sterility, 74, 976–979. doi: https://doi.org/10.1016/S0015-0282(00)01539-9.
- Tiotiu, D., Alvaro Mercadal, B., Imbert, R., Verbist, J., Demeestere, I., De Leener, A., … Delbaere, A. (2010). Variants of the BMP15 gene in a cohort of patients with premature ovarian failure. Human Reproduction, 25, 1581–1587. doi: https://doi.org/10.1093/humrep/deq073.
- Tucker, E.J., Grover, S.R., Bachelot, A., Touraine, P., & Sinclair, A.H. (2016). Premature ovarian insufficiency: New perspectives on genetic cause and phenotypic spectrum. Endocrine Reviews, 37, 609–635. doi: https://doi.org/10.1210/er.2016-1047.
- Wang, T.-T., Ke, Z.-H., Song, Y., Chen, L.-T., Chen, X.-J., Feng, C., … Huang, H.-F. (2013). Identification of a mutation in GDF9 as a novel cause of diminished ovarian reserve in young women. Human Reproduction, 28, 2473–2481. doi: https://doi.org/10.1093/humrep/det291.
- Wang, B., Wen, Q., Ni, F., Zhou, S., Wang, J., Cao, Y., & Ma, X. (2010). Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure. Clinical Endocrinology, 72, 135–136. doi: https://doi.org/10.1111/j.1365-2265.2009.03613.x.
- Zhang, W., Wang, J., Wang, X., Li, L., Pan, H., Chen, B., … Wang, B. (2018). A novel homozygous mutation of bone morphogenetic protein 15 identified in a consanguineous marriage family with primary ovarian insufficiency. Reprod Biomed Online, 36, 206–209. doi: https://doi.org/10.1016/j.rbmo.2017.10.104.
- Zhao, H., Qin, Y., Kovanci, E., Simpson, J.L., Chen, Z.J., & Rajkovic, A. (2007). Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure. Fertility and Sterility, 88, 1474–1476. doi: https://doi.org/10.1016/j.fertnstert.2007.01.021.