Dr. Juan Dong
Juan Dong, PhD
Research Instructor
Institute of Oral Health Research
Dept. of Orthodontics
School of Dentistry at UAB
1919 7th Avenue South, SDB 709
Birmingham, AL 35294-0007
Phone: (205) 996-5132
FAX: (205) 996-5109
Research Area:
My research areas focus on genetic variations associated with inherited craniofacial disorders by high-throughput human molecular genetics approaches. These disorders include Amelogenesis imperfect, Dentinogenesis Imperfect, Dentin dysplasia, altered tooth numbers and various ectodermal dysplasias. We collaborate with dentists/physicians to identify potential patients/families, asking pedigree information, collecting blood/buccal swab sample/or exfoliated teeth, isolating DNA/RNA, performing comprehensive genetic analysis to determine candidate genes/variations involved in the development of these diseases. The identification of the candidate gene(s) and gene variations causing these phenotypes will reveal genetic and molecular pathways involving normal/abnormal craniofacial development. For example, we have mapped the human enamelin gene to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. We have identified a DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism by linkage and mutational studies.
Selected Publications: (PubMed for Dr. Juan Dong)
1. J. Dong, M.A. Chen, S. Nolet, M.P. Herbst, S. Yao, Y. Su, R. Sayer, L. Guay-Woodford, L.M. Messiaen, Clinical diagnostic testing for autosomal recessive polycystic kidney disease ASHG, New Orleans, 2006.
2. MacDougall, M., Dong, J. Dentinogenesis Imperfecta Type III. The NORD Guide to Rare Disorders. Lippincott, Williams & Wilkins. Philadelphia, PA; 2003.
3. Dong, J., Acevedo,A.C., Herrera, M., Mestrinho, H D., Paula, L., Galindo, M., Gu, TT., MacDougall, M., NFIC and Root Deformation (being submitted).
4. MacDougall, M. Dong, J., Acevedo, A.C., Molecular basis of human dentin diseases. Am. J. Medical Genetics (2006 Sep 5 e journal)
5. Dong, J., Amore, D., Aldred, M., Gu, T.T., Escamilla, M., MacDougall, M. DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am. J. Medical Genetics (132A (3): 305-309 (2005).
6. Dong, J., Gu, T.T., Jeffords, L., MacDougall, M. Dentin Phosphoprotein Compound Mutation in Dentin Sialophosphoprotein Causes Dentinogenesis Imperfecta Type III. Am. J. Medical Genetics (132A (3): 305-309 (2005).
7. Chen S, Unterbrink A, Kadapakkam S, Dong J, Gu TT, Dickson J, Chuang HH, MacDougall M. Regulation of the cell type-specific DSPP gene expression in mouse odontoblasts by a novel transcription repressor and an activator CBF. J. Biol. Chem., Oct 2004; 279: 42182 - 42191.
8. Chen S, Inozemtseva-Clayton N, Dong J, Gu TT, MacDougall M. Binding of two nuclear factors to a novel silencer element in hman dentin matrix protein 1 (DMP1) promoter regulates the cell type-specific DMP1 gene expression JCB 2004 92:332-350.
9. MacDougall, M., Simmons, D., Gu, T.T., and Dong, J. MEPE/OF45 a new dentin/bone matrix protein and candidate gene for dentin diseases mapping to chromosome 4q21. Conn. Tissue Res.43:,320-330,2002.
10. Dong, J., Gu, T.T., Simmons, D. MacDougall, M. Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. Eur. J. Oral Sci. 108(5):353-358, 2000.
11. Schwahn, U., Lenzner, S., Dong, J., Feil, S., ... Ropers, H., and Berger, W., Position cloning of the gene for X-linked retinitis pigmentosa 2 Nature Genetics, Vol.19 august 1998, 327-332.
12. Dong, J., Chang-Claude, J., Wu, Yixin., Schumacher, V., Debatin, I., Tonin, P., Royer-Pokora, B. A high proportion of recurrent and novel mutations in BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3 third of the gene. Human Genetics, 1998, 103: 154-161.
13. Chang-Claude, J., Dong, J., Royer-Pokora, B., et al. Using gene carrier probability to select high-risk families for identifying germline mutations in breast cancer susceptibility genes J of Medical Genetics 1998, 35: 116-121.
14. Dong, J., Ru, Z-F., and Bu, L-M. The effect of psychological factors in the development of breast cancer, Journal of Chinese epidemiology, 1992 (13): 202.