1、遗传病致病基因的克隆、基因型表现型关系研究

通过遗传病家系的鉴定和分析，应用连锁分析和外显子测序等手段，发现新的遗传病致病基因，阐明疾病发生的遗传基础。分析基因型和临床症状之间、以及治疗效果之间的关系。

2、眼科疾病发病的分子病理机制

以视网膜色素变性的致病基因为线索，研究基因在人体正常的生理功能，分析基因突变引起疾病发生的分子病理机制。通过对视网膜色素变性致病基因的生化和分子生物学功能研究，理解视网膜的结构和视觉功能产生和维持的生理基础，阐明遗传因素和环境因素引起视网膜变性以及视觉损伤的病理机制，发展预防和治疗这类重要的眼科疾病的方法和手段。

代表性论文

1、Han Y, Sun K, Yu S, Qin Y, Zhang Z, Luo J, Hu H, Dai L, Cui M, Jiang C, Liu F, Huang Y, Gao P, Chen X, Xin T, Ren X, Wu X, Song J, Wang Q, Tang Z, Chen J, Zhang H, Zhang X*, Liu M*, Luo D*. A Mettl16/m⁶A/mybl2b/Igf2bp1 axis ensures cell cycle progression of embryonic hematopoietic stem and progenitor cells. EMBO J. 2024 May;43(10):1990-2014.

2、Lv Y, Li J, Yu S, Zhang Y, Hu H, Sun K, Jia D, Han Y, Tu J, Huang Y, Liu X, Zhang X, Gao P, Chen X, Shaw Williams MT, Tang Z, Shu X, Liu M*, Ren X*. The splicing factor Prpf31 is required for hematopoietic stem and progenitor cell expansion during zebrafish embryogenesis. J Biol Chem. 2024 Feb 19:105772.

3、Jia D, Gao P, Lv Y, Huang Y, Reilly J, Sun K, Han Y, Hu H, Chen X, Zhang Z, Li P, Luo J, Shu X, Tang Z, Liu F, Liu M*, Ren X*. Tulp1 deficiency causes early-onset retinal degeneration through affecting ciliogenesis and activating ferroptosis in zebrafish. Cell Death Dis. 2022 Nov 17;13(11):962.

4、Tu J, Yu S, Li J, Ren M, Zhang Y, Luo J, Sun K, Lv Y, Han Y, Huang Y, Ren X, Jiang T, Tang Z, Williams MTS, Lu Q*, Liu M*. Dhx38 regulates the maintenance and differentiation of erythro-myeloid progenitors and hematopoietic stem cells by alternative splicing. Development. 2022 Aug 5:dev.200450.

5、Liu F, Qin Y, Huang Y, Gao P, Li J, Yu S, Jia D, Chen X, Lv Y, Tu J, Sun K, Han Y, Reilly J, Shu X, Lu Q, Tang Z, Xu C*, Luo D*, Liu M. Rod genesis driven by mafba in an nrl knockout zebrafish model with altered photoreceptor composition and progressive retinal degeneration. PLoS Genet. 2022 Mar 4;18(3):e1009841

6、Gao P, Jia D, Li P, Huang Y, Hu H, Sun K, Lv Y, Chen X, Han Y, Zhang Z, Ren X, Wang Q, Liu F, Tang Z*, Liu M*. Accumulation of Lipid Droplets in a Novel Bietti Crystalline Dystrophy Zebrafish Model With Impaired PPARα Pathway. Invest Ophthalmol Vis Sci. 2022 May 2;63(5):32.

7、Li J, Liu F, Lv Y, Sun K, Zhao Y, Reilly J, Zhang Y, Tu J, Yu S, Liu X, Qin Y, Huang Y, Gao P, Jia D, Chen X, Han Y, Shu X, Luo D, Tang Z*, Liu M*. Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing. Nucleic Acids Res. 2021 Feb 26;49(4):2027-2043.

8、Yu S, Jiang T, Jia D, Han Y, Liu F, Huang Y, Qu Z, Zhao Y, Tu J, Lv Y, Li J, Hu X, Lu Z, Han S, Qin Y, Liu X, Xie S, Wang QK, Tang Z, Luo D*, Liu M*. BCAS2 is essential for hematopoietic stem and progenitor cell maintenance during zebrafish embryogenesis. Blood. 2019 Feb 21;133(8):805-815

9、Hu X, Lu Z, Yu S, Reilly J, Liu F, Jia D, Qin Y, Han S, Liu X, Qu Z, Lv Y, Li J, Huang Y, Jiang T, Jia H, Wang Q, Liu J, Shu X, Tang Z*, Liu M*. CERKL regulates autophagy via the NAD-dependent deacetylase SIRT1. Autophagy. 2019 Mar;15(3):453-465.

 10、Lu Z, Hu X, Reilly J, Jia D, Liu F, Yu S, Liu X, Xie S, Qu Z, Qin Y, Huang Y, Lv Y, Li J, Gao P, Wong F, Shu X, Tang Z*, Liu M*. Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration. J Biol Chem. 2019 Sep 20;294(38):13953-13963