A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility

Wen-Bin He; Ya-Xin Zhang; Chen Tan; Lan-Lan Meng; Gang Liu; Yuan Li; Fei Gong; Bai-Lin Wu; Guang-Xiu Lu; Ge Lin; Juan Du; Yue-Qiu Tan

doi:10.1016/j.jgg.2020.09.004

Volume 47 Issue 12

Dec. 2020

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Article Navigation > Journal of Genetics and Genomics > 2020 > 47(12): 785-788

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A recurrent mutation in TBPL2 causes diminished ovarian reserve and female infertility

doi: 10.1016/j.jgg.2020.09.004

Wen-Bin He^{1, 2, 3},
Ya-Xin Zhang⁴,
Chen Tan⁴,
Lan-Lan Meng^{5, 6},
Gang Liu^{7, 8, 9},
Yuan Li^{7, 8, 9},
Fei Gong^{7, 8, 9},
Bai-Lin Wu¹⁰,
Guang-Xiu Lu^{11, 12, 13},
Ge Lin^{11, 12, 13},
Juan Du^{11, 12, 13},
Yue-Qiu Tan^{11, 12, 13}

1
Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410083, China
2
Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha 410083, China
3
Clinical Research Center For Reproduction and Genetics In Hunan Province, Changsha 410083, China
4
Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha 410083, China
5
Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410083, China
6
Clinical Research Center For Reproduction and Genetics In Hunan Province, Changsha 410083, China
7
Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410083, China
8
Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha 410083, China
9
Clinical Research Center For Reproduction and Genetics In Hunan Province, Changsha 410083, China
10
Boston Children's Hospital and Harvard Medical School, Boston, USA
11
Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410083, China
12
Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha 410083, China
13
Clinical Research Center For Reproduction and Genetics In Hunan Province, Changsha 410083, China

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Corresponding author: E-mail address: tandujuan@csu.edu.cn (Juan Du); E-mail address: tandujuan@csu.edu.cn (Yue-Qiu Tan)
Publish Date: 2020-12-25

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References(20)

References

[1]	Akhtar, W., Veenstra, G.J., 2011. TBP-related factors: a paradigm of diversity in transcription initiation. Cell Biosci. 1, 23.
[2]	Broekmans, F.J., Soules, M.R., Fauser, B.C., 2009. Ovarian aging: mechanisms and clinical consequences. Endocr. Rev. 30, 465-493.
[3]	Gazdag, E., Santenard, A., Ziegler-Birling, C., Altobelli, G., Poch, O., Tora, L., Torres-Padilla, M.E., 2009. TBP2 is essential for germ cell development by regulating transcription and chromatin condensation in the oocyte. Genes Dev. 23, 2210-2223.
[4]	Greene, A.D., Patounakis, G., Segars, J.H., 2014. Genetic associations with diminished ovarian reserve: a systematic review of the literature. J. Assist. Reprod. Gen. 31, 935-946.
[5]	Jaillard, S., Sreenivasan, R., Beaumont, M., Robevska, G., Dubourg, C., Knarston, I.M., Akloul, L., van den Bergen, J., Odent, S., Croft, B., Jouve, G., Grover, S.R., Duros, S., Pimentel, C., Belaud-Rotureau, M.-A., Ayers, K.L., Ravel, C., Tucker, E.J., Sinclair, A.H., 2020. Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility. Maturitas 131, 78-86.
[6]	Kidder, G.M., Vanderhyden, B.C., 2010. Bidirectional communication between oocytes and follicle cells: ensuring oocyte developmental competence. Can. J. Physiol. Pharmacol. 88, 399-413.
[7]	Man, L., Lekovich, J., Rosenwaks, Z., Gerhardt, J., 2017. Fragile X-associated diminished ovarian reserve and primary ovarian insufficiency from molecular mechanisms to clinical manifestations. Front. Mol. Neurosci. 10, 290.
[8]	Moreno, D.L., Salazar, Z., Betancourt, M., Casas, E., Ducolomb, Y., Gonzalez, C., Bonilla, E., 2014. Sebox plays an important role during the early mouse oogenesis in vitro. Zygote 22, 64-68.
[9]	Pastore, L.M., Christianson, M.S., Stelling, J., Kearns, W.G., Segars, J.H., 2018. Reproductive ovarian testing and the alphabet soup of diagnoses: DOR, POI, POF, POR, and FOR. J. Assist. Reprod. Genet. 35, 17-23.
[10]	Persengiev, S.P., Zhu, X., Dixit, B.L., Maston, G.A., Kittler, E.L., Green, M.R., 2003. TRF3, a TATA-box-binding protein-related factor, is vertebrate-specific and widely expressed. Proc. Natl. Acad. Sci. U. S. A. 100, 14887-14891.
[11]	Richards, J.S., 2005. Ovulation: new factors that prepare the oocyte for fertilization. Mol. Cell. Endocrinol. 234, 75-79.
[12]	Rogers, J., 1957. Disorders of menstruation. British Med. J. 3, 1-34.
[13]	Sharif, H., Conti, E., 2013. Architecture of the Lsm1-7-Pat1 complex: a conserved assembly in eukaryotic mRNA turnover. Cell Rep. 5, 283-291.
[14]	Simon, A.M., Chen, H., Jackson, C.L., 2006. Cx37 and Cx43 localize to zona pellucida in mouse ovarian follicles. Cell Commun. Adhes. 13, 61-77.
[15]	Tal, R., Seifer, D.B., 2013. Potential mechanisms for racial and ethnic differences in antimullerian hormone and ovarian reserve. Int. J. Endocrinol. 2013, 818912.
[16]	Wang, C., Cao, J., Xing, Y., Pu, D., Liu, J., Wu, J., 2016. TBP2 gene may not be associated with primary ovarian insufficiency. Climacteric 19, 565-567.
[17]	Yan, C., Pendola, F.L., Jacob, R., Lau, A.L., Eppig, J.J., Matzuk, M.M., 2001. Oosp1 encodes a novel mouse oocyte-secreted protein. Genesis 31, 105-110.
[18]	Yao, Q., Cao, G., Li, M., Wu, B., Zhang, X., Zhang, T., Guo, J., Yin, H., Shi, L., Chen, J., Yu, X., Zheng, L., Ma, J., Su, Y.Q., 2018. Ribonuclease activity of MARF1 controls oocyte RNA homeostasis and genome integrity in mice. Proc. Natl. Acad. Sci. U. S. A. 115, 11250-11255.
[19]	Yokoo, M., Sato, E., 2004. Cumulus-oocyte complex interactions during oocyte maturation. Int. Rev. Cytol. 235, 251-291.
[20]	Yoshino, O., McMahon, H.E., Sharma, S., Shimasaki, S., 2006. A unique preovulatory expression pattern plays a key role in the physiological functions of BMP-15 in the mouse. Proc. Natl. Acad. Sci. U. S. A. 103, 10678-10683.