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Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy

Shujin Li Mu Yang Yunqi He Xiaoyan Jiang Rulian Zhao Wenjing Liu Lulin Huang Yi Shi Xiao Li Kuanxiang Sun Yeming Yang Periasamy Sundaresan Peiquan Zhao Zhenglin Yang Xianjun Zhu

Shujin Li, Mu Yang, Yunqi He, Xiaoyan Jiang, Rulian Zhao, Wenjing Liu, Lulin Huang, Yi Shi, Xiao Li, Kuanxiang Sun, Yeming Yang, Periasamy Sundaresan, Peiquan Zhao, Zhenglin Yang, Xianjun Zhu. Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy[J]. 遗传学报, 2022, 49(6): 590-594. doi: 10.1016/j.jgg.2021.11.010
引用本文: Shujin Li, Mu Yang, Yunqi He, Xiaoyan Jiang, Rulian Zhao, Wenjing Liu, Lulin Huang, Yi Shi, Xiao Li, Kuanxiang Sun, Yeming Yang, Periasamy Sundaresan, Peiquan Zhao, Zhenglin Yang, Xianjun Zhu. Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy[J]. 遗传学报, 2022, 49(6): 590-594. doi: 10.1016/j.jgg.2021.11.010
Shujin Li, Mu Yang, Yunqi He, Xiaoyan Jiang, Rulian Zhao, Wenjing Liu, Lulin Huang, Yi Shi, Xiao Li, Kuanxiang Sun, Yeming Yang, Periasamy Sundaresan, Peiquan Zhao, Zhenglin Yang, Xianjun Zhu. Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy[J]. Journal of Genetics and Genomics, 2022, 49(6): 590-594. doi: 10.1016/j.jgg.2021.11.010
Citation: Shujin Li, Mu Yang, Yunqi He, Xiaoyan Jiang, Rulian Zhao, Wenjing Liu, Lulin Huang, Yi Shi, Xiao Li, Kuanxiang Sun, Yeming Yang, Periasamy Sundaresan, Peiquan Zhao, Zhenglin Yang, Xianjun Zhu. Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy[J]. Journal of Genetics and Genomics, 2022, 49(6): 590-594. doi: 10.1016/j.jgg.2021.11.010

Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy

doi: 10.1016/j.jgg.2021.11.010
基金项目: 

This study was supported by the National Natural Science Foundation of China (81970841 and 81770950 to X. Zhu, 81790643 and 82121003 to Z. Yang, 82000913 to S. Li, 82101153 to M. Yang), the CAMS Innovation Fund for Medical Sciences (2019–12M-5-032 to Z. Yang), the Department of Science and Technology of Sichuan Province (2021YFS0386 to X. Zhu, 2022YFS0598 to S. Li, 2021YFS0369 and 2021JDGD0036 to Z. Yang), The Program of Science and Technology International Cooperation Project of Qinghai province (2022-HZ-814 to X. Zhu) and the fund for Sichuan Provincial People’s Hospital (2021QN01 to M. Yang), the Department of Chengdu Science and Technology (2021-YF05-01316-SN to X. Zhu). The funders had no role in the study design, data collection and analysis, or preparation of the manuscript.

详细信息
    通讯作者:

    Zhenglin Yang,E-mail:zliny@yahoo.com

    Xianjun Zhu,E-mail:xjzhu@uestc.edu.cn

Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy

Funds: 

This study was supported by the National Natural Science Foundation of China (81970841 and 81770950 to X. Zhu, 81790643 and 82121003 to Z. Yang, 82000913 to S. Li, 82101153 to M. Yang), the CAMS Innovation Fund for Medical Sciences (2019–12M-5-032 to Z. Yang), the Department of Science and Technology of Sichuan Province (2021YFS0386 to X. Zhu, 2022YFS0598 to S. Li, 2021YFS0369 and 2021JDGD0036 to Z. Yang), The Program of Science and Technology International Cooperation Project of Qinghai province (2022-HZ-814 to X. Zhu) and the fund for Sichuan Provincial People’s Hospital (2021QN01 to M. Yang), the Department of Chengdu Science and Technology (2021-YF05-01316-SN to X. Zhu). The funders had no role in the study design, data collection and analysis, or preparation of the manuscript.

  • Chen, Z.Y., Battinelli, E.M., Fielder, A., Bundey, S., Sims, K., Breakefield, X.O.,Craig, I.W., 1993. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat. Genet. 5, 180-183
    Criswick, V.G.,Schepens, C.L., 1969. Familial exudative vitreoretinopathy. Am. J. Ophthalmol. 68, 578-594
    de Crecchio, G., Simonelli, F., Nunziata, G., Mazzeo, S., Greco, G.M., Rinaldi, E., Ventruto, V., Ciccodicola, A., Miano, M.G., Testa, F., et al., 1998. Autosomal recessive familial exudative vitreoretinopathy:evidence for genetic heterogeneity. Clin. Genet. 54, 315-320
    Junge, H.J., Yang, S., Burton, J.B., Paes, K., Shu, X., French, D.M., Costa, M., Rice, D.S.,Ye, W., 2009. TSPAN12 regulates retinal vascular development by promoting Norrin-but not Wnt-induced FZD4/beta-catenin signaling. Cell 139, 299-311
    Ke, J., Harikumar, K.G., Erice, C., Chen, C., Gu, X., Wang, L., Parker, N., Cheng, Z., Xu, W., Williams, B.O., et al., 2013. Structure and function of Norrin in assembly and activation of a Frizzled 4-Lrp5/6 complex. Genes Dev. 27, 2305-2319
    Koslowski, M.J., Teltschik, Z., Beisner, J., Schaeffeler, E., Wang, G., Kubler, I., Gersemann, M., Cooney, R., Jewell, D., Reinisch, W., et al., 2012. Association of a functional variant in the Wnt co-receptor LRP6 with early onset ileal Crohn's disease. PLoS Genet. 8, e1002523
    Lobov, I.B., Rao, S., Carroll, T.J., Vallance, J.E., Ito, M., Ondr, J.K., Kurup, S., Glass, D.A., Patel, M.S., Shu, W., et al., 2005. WNT7b mediates macrophage-induced programmed cell death in patterning of the vasculature. Nature 437, 417-421
    Luhmann, U.F., Lin, J., Acar, N., Lammel, S., Feil, S., Grimm, C., Seeliger, M.W., Hammes, H.P.,Berger, W., 2005. Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature. Invest. Ophthalmol. Vis. Sci. 46, 3372-3382
    Massink, M.P., Creton, M.A., Spanevello, F., Fennis, W.M., Cune, M.S., Savelberg, S.M., Nijman, I.J., Maurice, M.M., van den Boogaard, M.J.,van Haaften, G., 2015. Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia. Am. J. Hum. Genet. 97, 621-626
    Panagiotou, E.S., Sanjurjo Soriano, C., Poulter, J.A., Lord, E.C., Dzulova, D., Kondo, H., Hiyoshi, A., Chung, B.H., Chu, Y.W., Lai, C.H.Y., et al., 2017. Defects in the Cell Signaling Mediator beta-Catenin Cause the Retinal Vascular Condition FEVR. Am. J. Hum. Genet. 100, 960-968
    Robitaille, J., MacDonald, M.L., Kaykas, A., Sheldahl, L.C., Zeisler, J., Dube, M.P., Zhang, L.H., Singaraja, R.R., Guernsey, D.L., Zheng, B., et al., 2002. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat. Genet. 32, 326-330
    Sun, K.X., Jiang, X.Y., Li, X., Su, Y.J., Wang, J.L., Zhang, L., Yang, Y.M.,Zhu, X.J., 2021. Deletion of phosphatidylserine flippase beta-subunit Tmem30a in satellite cells leads to delayed skeletal muscle regeneration. Zool. Res. 42, 650-659
    Xia, C.H., Liu, H., Cheung, D., Wang, M., Cheng, C., Du, X., Chang, B., Beutler, B.,Gong, X., 2008. A model for familial exudative vitreoretinopathy caused by LPR5 mutations. Hum. Mol. Genet. 17, 1605-1612
    Xu, Q., Wang, Y., Dabdoub, A., Smallwood, P.M., Williams, J., Woods, C., Kelley, M.W., Jiang, L., Tasman, W., Zhang, K., et al., 2004. Vascular development in the retina and inner ear:control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell 116, 883-895
    Yang, M., Li, S., Liu, W., Li, X., He, Y., Yang, Y., Sun, K., Zhang, L., Tian, W., Duan, L., et al., 2021. The ER membrane protein complex subunit Emc3 controls angiogenesis via the FZD4/WNT signaling axis. Sci. China. Life. Sci. 64, 1868-1883
    Ye, X., Wang, Y., Cahill, H., Yu, M., Badea, T.C., Smallwood, P.M., Peachey, N.S.,Nathans, J., 2009. Norrin, frizzled-4, and Lrp5 signaling in endothelial cells controls a genetic program for retinal vascularization. Cell 139, 285-298
    Zhang, S., Li, X., Liu, W., Zhang, X., Huang, L., Li, S., Yang, M., Zhao, P., Yang, J., Fei, P., et al., 2021. Whole-Exome Sequencing Identified DLG1 as a Candidate Gene for Familial Exudative Vitreoretinopathy. Genet. Test. Mol. Biomarkers. 25, 309-316
    Zhou, Y., Wang, Y., Tischfield, M., Williams, J., Smallwood, P.M., Rattner, A., Taketo, M.M.,Nathans, J., 2014. Canonical WNT signaling components in vascular development and barrier formation. J. Clin. Invest. 124, 3825-3846
    Zhu, X., Yang, M., Zhao, P., Li, S., Zhang, L., Huang, L., Huang, Y., Fei, P., Yang, Y., Zhang, S., et al., 2021. Catenin alpha 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/beta-catenin signaling. J. Clin. Invest. 131
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出版历程
  • 收稿日期:  2021-08-30
  • 录用日期:  2021-11-30
  • 修回日期:  2021-11-30
  • 刊出日期:  2022-06-30

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