Faculty
Department of Genetics
Yaoqin Gong

Yaoqin Gong, Ph.D

Prof. of Genetics

Telephone: 86-531-88382115

E-mail: yxg8@sdu.edu.cn


Education

July 2002: PhD, , Development Biology, Shandong University School of Medicine

Oct. 1985, Master of Science, Medical Genetics, Shandong Medical University

July 1982, Bachelor of Science, Biology, Huazhong Normal University

Professional Experience

2000.7-present:Professor , Department of Genetics, Shandong University

2000.1-2000.6: Professor, Department of Genetics, Shandong Medical University

1995.11-1999.12: Associate Professor, Department of Genetics, Shandong Medical University

1995.1-1995.10: Visiting Scholar, Department of Human Genetics, CWRU School of Medicine, Cleveland, OH

1994.3-1994.12: Visiting Scholar, Department of Cell Biology, Harvard Medical School, Boston, MA

1987.4-1994.2: Lecturer, Department of Medical Genetics, Shandong Medical University

1985.10-1987.2: Instructor, Department of Biology, Shandong Medical University

Awards/Honors

WHO Scholarship, World Health Organization, 1994

Distinguished Young Scholars, National Natural Science Foundation ofChina, 2002

Cheung Kong Scholar, Cheung Kong Scholar Program, Ministry of Education,China, 2002

Research Interests

Identification and function analysis of the genes responsible for monogenic diseases.

I have worked on identifying the genetic mutations responsible for monogenetic diseases and their function analysis for years. In 2007, we found that loss of function mutation in humanCUL4Bgene resulted in an X-linked mental retardation syndrome. In addition to being mentally retarded, patients carryingCUL4Bmutation also manifest short stature, abnormal gait, impaired speech, increased monocytes and other abnormalities. These phenotypes underscore the functional importance of CUL4B.

CUL4B belongs to Cullin protein family. Cullin proteins are scaffold proteins involved in the assembly of Cullin-Ring E3 ubiquitin ligase complexes (CRLs), the largest family of E3 ubiquitin ligases in eukaryotes. CRLs participate in many biological processes including cell cycle progression, signal transduction, DNA repair, transcription, chromosomal remodeling and embryogenesis. In recent years, research in our group mainly focuses on characterizing the function of CUL4B in development.

lThe role of CUL4B in neurodevelopment. Loss-of-function mutations in CUL4B gene have been found to be a common cause of X-linked mental retardation. Using the Cul4b knock-out mouse model we recently established, we will study the role of CUL4B in neurodevelopment and occurrence of mental retardation, and analyze the underlying molecular mechanism.

lThe role of CUl4B in hematopoiesis. Previously we found increased monocytes in patients carrying loss-of-function mutations in CUL4B. We will knock out Cul4b gene specifically in mouse hematological system, and study the role of CUL4B in maintenance and differentiation of hematopoietic stem cells.

lThe role of CUL4B in tumorigenesis. Our previous studies showed CUL4B is highly expressed in many tumors. We will further investigate how CUL4B is involved in tumorigenesis, and evaluate its potential in diagnosis and prognosis of tumors.

Selected Publications(*Correspondence):

1.Gong Y, Vikkula M, Boon L, Liu J, Beighton P, Ramesar R, Peltonen L, Somer H, Hirose T, Dallapiccola B, De Paepe A, Swoboda W, Zabel B, Superti-Furga A, Steinmann B, Brunner HG, Jans A, Boles RG, Adkins W, van den Boogaard MJ, Olsen BR, Warman ML(1996).Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.Am J Hum Genet.59(1):146-51.

2.Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal A, Reiss M, Warman ML(1999).Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.Am J Hum Genet.64(2):570-7.

3.Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML(1999).Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.Nat Genet.21(3):302-4.

4.Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Jüppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML; Osteoporosis-Pseudoglioma Syndrome Collaborative Group (2001).LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.Cell. 107(4):513-23.

5.Zou Y, Liu Q, Chen B, Zhang X, Guo C, Zhou H, Li J, Gao G, Guo Y, Yan C, Wei J, Shao C,Gong Y*(2007).Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.Am J Hum Genet.80(3):561-6.

6.Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C,Gong Y*(2008).A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).Am J Hum Genet.83(6):752-9.

7.Zou Y, Mi J, Cui J, Lu D, Zhang X, Guo C, Gao G, Liu Q, Chen B, Shao C*,Gong Y*(2009).Characterization of nuclear localization signal in the N terminus of CUL4B and its essential role in cyclin E degradation and cell cycle progression.J Biol Chem.284(48):33320-32.

8.Li X, Lu D, He F, Zhou H, Liu Q, Wang Y, Shao C,Gong Y*(2011).Cullin 4B protein ubiquitin ligase targets peroxiredoxin III for degradation.J Biol Chem.286(37):32344-54.

9.Jiang B, Zhao W, Yuan J, Qian Y, Sun W, Zou Y, Guo C, Chen B, Shao C*,Gong Y*(2012).Lack of Cul4b, an E3 ubiquitin ligase component, leads to embryonic lethality and abnormal placental development.PLoS One.7(5):e37070.

10.Hu H, Yang Y, Ji Q, Zhao W, Jiang B, Liu R, Yuan J, Liu Q, Li X, Zou Y, Shao C, Shang Y, Wang Y*,Gong Y*(2012).CRL4B catalyzes H2AK119 monoubiquitination and coordinates with PRC2 to promote tumorigenesis.Cancer Cell.22(6):781-95.

11.He F, Lu D, Jiang B, Wang Y, Liu Q, Liu Q, Shao C, Li X*,Gong Y*(2013).X-linked intellectual disability gene CUL4B targets Jab1/CSN5 for degradation and regulates bone morphogenetic protein signaling.Biochim Biophys Acta.1832(5):595-605.

12.Zou Y, Mi J, Wang W, Lu J, Zhao W, Liu Z, Hu H, Yang Y, Gao X, Jiang B, Shao C*,Gong Y*(2013).CUL4B promotes replication licensing by up-regulating the CDK2-CDC6 cascade.J Cell Biol.200(6):743-56.

13.Ji Q, Hu H, Yang F, Yuan J, Yang Y, Jiang L, Qian Y, Jiang B, Zou Y, Wang Y, Shao C, Gong Y*(2014).CRL4B interacts with and coordinates the SIN3A-HDAC complex to repress CDKN1A and drive cell cycle progression.J Cell Sci.127(21):4679-91.

14.Zhao X, Jiang B, Hu H, Mao F, Mi J, Li Z, Liu Q, Shao C*,Gong Y*(2014).Zebrafish cul4a, but not cul4b, modulates cardiac and forelimb development by upregulating tbx5a expression.Hum Mol Genet.24:853-864

15.Yuan J, Han B, Hu H, Qian Y, Liu Z, Wei Z, Liang X, Jiang B, Shao C,Gong Y*(2014).CUL4B activates Wnt/β-catenin signaling in hepatocellular carcinoma by repressing Wnt antagonists.J Pathol.235:784-795

16. Yuan, J., Jiang, B*., Zhang, A., Qian, Y., Tan, H., Gao, J., Shao, C., andGong, Y* (2015). Accelerated hepatocellular carcinoma development in CUL4B transgenic mice. Oncotarget 6, 15209-15221.

17. Zhao, W., Jiang, B., Hu, H., Zhang, S., Lv, S., Yuan, J., Qian, Y., Zou, Y., Li, X., Jiang, H.,Liu F, Shao C*,Gong Y*(2015). Lack of CUL4B leads to increased abundance of GFAP-positive cells that is mediated by PTGDS in mouse brain. Human molecular genetics 24, 4686-4697.

18. Li P, Song Y, Zan W, Qin L, Han S, Jiang B, Dou H, Shao C,Gong Y*. Lack of CUL4B in Adipocytes Promotes PPARγ-Mediated Adipose Tissue Expansion and Insulin Sensitivity. Diabetes. 2017 Feb;66(2):300-313

19. Mi J#, Zou Y#, Lin X, Lu J, Liu X, Zhao H, Ye X, Hu H, Jiang B, Han B, Shao C*,Gong Y*. (2017) Dysregulation of miR-194 -CUL4B negative feedback loop drives tumorigenesis in non-small-cell lung carcinoma. Molecular Oncology 11:305-319



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