Faculty Profile: Cynthia Jackson, Ph.D., University of Illinois, 1983

Cynthia Jackson
Cynthia Jackson, Ph.D., University of Illinois, 1983
Associate Professor of Pathology & Laboratory Medicine
Pathology & Laboratory Medicine
Work: +1 401-444-4370
Several clinically important diseases and tumor-associated genetic alterations have been linked to human chromosome 9p. We are focusing our research on two different diseases whose causative genes are located on 9p. We are interested in identifying the mechanism by which mutations in the gene RMRP, RNA component of the mitochondrial RNA processing gene, cause the genetic disease cartilage-hair hypoplasia.

Institutions

Rih

Research Description

Several clinically important diseases and tumor-associated genetic alterations have been linked to human chromosome 9p. We are focusing our research on two different diseases whose causative genes are located on 9p. We are interested in identifying the mechanism by which mutations in the gene RMRP, RNA component of the mitochondrial RNA processing gene, cause the genetic disease cartilage-hair hypoplasia. This recessive genetic disease affects many body systems with the primary characteristics being the short limb-short stature and fine sparse hair that give the disease its name. We are using both cell culture and animal models to investigate the mechanism of this disease. A second locus of interest on 9p is that of a candidate tumor suppressor gene. Data from studying DNA deletions in tumors as well as in vitro cell culture indicate that there is a growth regulatory gene on 9p. We are trying to identify this gene using a cloning strategy that takes advantage of the information available from the Human Genome Project.

Grants and Awards

Phi Lambda Upsilon (Chemistry Honor Society), University of Illinois, 1977
USPHS Predoctoral Trainee, University of Illinois, 1978-1980
NIH Postdoctoral Fellow, National Institutes of Health, 1984-1987
Charles A. King Trust, Postdoctoral Fellowship, Charles A. King Foundation, awarded for 1987-1988

Affiliations

Sigma Xi
American Society for Human Genetics
American Women in Science
New England Regional Genetics Group
Professional Women in Genetics
Association for Molecular Pathology

Funded Research

N/A

Selected Publications

  • 33. DePaepe ME, Mao Q, Huang C, Zhu D, Jackson CL and Hansen K. (2002) Postmortem RNA and Protein Stability in perinatal human lungs. Diagnostic Molecular Pathology 11(3): 170-176. (2002)
  • 32. Prakash P, Manfredi TG, Jackson CL and Gerber LE. (2002). Beta-carotene alters the morphology of NCI-H69 small cell lung cancer cells. Journal of Nutrition 132: 121-124. (2002)
  • 30. Prakash P, Manfredi TG, Jackson CL and Gerber LE. (2001) Effect of -carotene on the morphology of NCI-H69 small cell lung cancer cells. Journal of Nutrition (in press) (2001)
  • 28. Mills DR and Jackson CL. (2001) Assignment of p22 dynactin light chain (DCTN3) to human chromosome region 9p13 by radiation hybrid mapping. Cytogenet. and Cell Genetics 92: 166 (2001)
  • 29. Eisenberg I, Hochner H, Shemesh M, Levi T., Poticha T, Sadeh M, Argov Z, Jackson CL, and Mitrani-Rosenbaum S. (2001) Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13. European Journal of Human Genetics 9: 501-509. (2001)
  • 27. Bearer E, Chen AH, Chen AF, Li Z, Smith RJ, Mark HFL and Jackson CL. (2000) 2E4/Kaptin, a candidate gene for the deafness locus, DFNA4. Annals of Human Genetics 64: 189-196. (2000)
  • 25. Povey S, Campbell L, Chadwick B, Jackson CL, Ozelius L and Slaugenhaupt S. (1999). Summary of the 6th Annual Chromosome 9 Workshop. Annuals of Human Genetics 63, 101-107. (1999)
  • 24. Prakash P, Jackson CL, and Gerber LE (1999). Subcellular accumulation of beta-carotene and retinoids in growth-inhibited HCI-H69 small cell lung cancer cells. Nutrition and Cancer 34(1)-76-82. (1999)
  • 23. Eisenberg I, Thiel C, Levi T, Tiram E, Argov Z, Sadeh M, Jackson CL, Thierfelder L and Mitrani-Rosenbaum. (1999). Fine structure mapping of the hereditary inclusion body myopathy locus. Genomics 55, 43-48. (1999)
  • 26. Luo M, Shang, Simkevich CP, Jackson CL, King TC and Rosmarin AG. (1999). Characterization and localization to chromosome 7 of hGABP (GABPAP), a human processed pseudogene related to the ets transcription factor, hGABP (GABPA). Gene 234(1): 119-126. (1999)
  • 21. Takezawa, K., Jackson, C., Gnepp, D and King, T. (1998) Molecular characterization of Warthin's tumor. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontics 85: 569-575. (1998)
  • 22. Klinger JR, Siddiq FM, Swift RA, Jackson CL, Pietras L, Warburton RR and Hill NS (1998). C-type natriuretic peptide expression and pulmonary vasodilation in hypoxia - adapted rats. American Journal of Physiology 275; (Lung Cell Mol Physiology 19; 645-652, 1998). (1998)
  • 20. Henley, J.D., Geary, W.A., Jackson, C.L., Wu, C.D. and Gnepp, D. (1997). Dedifferentiated acinic cell carcinoma: A report of a case and review of the literature. Human Pathology 28:869-873. (1997)
  • 19. Jackson, C.L. (1997). Unit 3.2 construction of somatic cell hybrids. In Current Protocols in Human Genetics, Edited by N. Dracopoli, J. Haines, B. Korf, D. Moir, C. Morton, C. Seidman, J.G., Seidman and D. Smith, J. Wiley & Songs, NY. (1997)
  • 17. Miranda, R.N., Glantz, L.K., Myint, M.A., Levy, N., Jackson, C.L., Glantz, M.J., Medeiros, L.J. (1996). Stage IE Non-Hodgkin's lymphoma involving the dura: A clinicopathologic study of five patients. Arch Pathol Lab Med 120:254-260. (1996)
  • 16. Wu, C.D., Jackson, C.L. and Medeiros, L.J. (1996). Splenic marginal zone cell lymphoma: An immunophenotypic and molecular study of six cases. American Journal of Clinical Pathology 105:277-285. (1996)
  • 18. Chiang, P-.W., Fogel, E.D., Jackson, C.L., Lieuallen, K., Lennon, G., Qu, X., Wang, S-.Q., Kurnit, D.M. (1996). Isolation, sequencing and mapping the human homologue of the yeast transcription factor, SPT5. Genomics 38:421-424. (1996)
  • 15. Chozick, B.S., Weicker M.E., Jackson, C.L., Finkelstein, S.D., Ambler, M.W., Epstein, M.H. and Finch, P.W. (1994). Pattern of Mutant p53 Expression in Human Astrocytomas Suggests the Existence of Alternate Pathways of Tumorigenesis. Cancer 73:406-415. (1994)
  • 13. Donaldson, D.H., Britt, D.E., Jones, C., Jackson, C.L. and Patterson, D. (1993). Localization of the Gene for the Cilicary Neurotrophic Factor Receptor (CNTFR) to Human Chromosome 9. Genomics 17: 782-784.. (1993)
  • 12. Galligan, L.J., Jackson, C.L., and Gerber, L.E. (1993). Carotenoids Slow the Growth of Small Cell Lung Cancer Cells. Annals of New York Academy of Science 691:267-269. (1993)
  • 14. Gafvels, M.E., Caird, M., Britt, D., Jackson, C.L., Patterson, D. and Strauss III, J.F. (1993). Cloning of a cDNA encoding a putative human very low density lipoprotein/apolipoprotein E receptor and assignment of the gene to chromosome 9pter-p23. Somatic Cell Mol. Genet. 19:557-569. (1993)
  • 11. Mark, H.F.L., Santoro, K.G., and Jackson, C.L. (1992). Characterization of Chromosomes 9 and 19 Somatic Cell and Radiation Hybrids: A Comparison of Approaches. Applied Cytogenetics 18(5): 149-156. (1992)
  • 10. Graw, S.L., Buckler, A.J., Britt, D.E., Jackson, C.L., Taruscio, D., Baldini, A., Menninger, J., Ward, D., and Housman, D.E. (1992). Generation and Characterization of a Human Chromosome 9 Cosmid Library. Somatic Cell and Molecular Genetics 18: 269-284. (1992)
  • 9. Jackson, C.L., Britt, D.E., Graw, S.L., Potts, A., Santoro, K., Buckler, A.J., Housman, D.E., and Mark, H.F.L. (1992). Construction and Characterization of Radiation Hybrids for Chromosome 9, and their use in Mapping Cosmid Probes on the Chromosome. Somatic Cell and Molecular Genetics 18: 285-301. (1992)
  • 8. Warburton, D., Gersen, S., Yu, M-T., Jackson, C.L., Handelin, B., and Housman, D.E. (1990). Monochromosomal Rodent Human Hybrids From Microcell Fusion of Human Lymphoblastoid Cells Containing an Inserted Dominant Selectable Marker. Genomics 6: 358-366. (1990)
  • 7. Harley, H., Brook, D., Jackson, C.L., Glaser, T., Kent, R., Shaw, D., Harper, P., and Housman, D. (1988). The Localization of a Human Na K ATPase alpha Subunit Gene to Chromosome 19q12-19q13.2 and Linkage to the Myotonic Dystrophy Locus. Genomics 3: 380-384. (1988)
  • 6. Das, H.K., Jackson, C.L., Miller, D., Leff, J., and Breslow, J.L. (1987). Characterization of the Human Apolipoprotein CII Gene: Demonstration of a Novel Chromosome 19 Specific Minisatellite in its Third Intron. J. Biol. Chem. 262: 4787-4793. (1987)
  • 5. Jackson, C.L., Bruns, G.A.P., and Breslow, J.L. (1986). Isolation of cDNA and Genomic Clones for Apolipoprotein CII. Methods in Enzymology 128: 788-800. (1986)
  • 4. Jackson, C.L., and Shapiro, D.J. (1986). Dexamethasone and Estrogen Regulate Xenopus Laevis Albumin mRNA Levels. BBRC 136: 8-15. (1986)
  • 3. Zannis, V.I., Cole, F.S., Jackson, C.L., Kurnit, D.M., and Karathanasis, S.K. (1985). Distribution of Apolipoprotein A-1, CII, CIII and E mRNA in Fetal Human Tissues. Time Dependent Induction of Apolipoprotein E mRNA by Cultures of Human Monocytes-Macrophages. Biochemistry 24: 4450-4455. (1985)
  • 2. Jackson, C.L., Bruns, G.A.P., and Breslow, J.L. (1984). Isolation and Sequence of a Human Apolipoprotein CII cDNA Clone and its Use to Isolate and Map to Chromosome 19 the Gene for Apolipoprotein CII. Proc. Natl. Acad. Sci. USA 81: 2945-2949. (1984)
  • 1. Jacobson, B.M., Gerhard, D.S., Jackson, C.L., and Smallwood, J. (1980). Mechanism of Decomposition of the Ene Adducts of Some 1,3- Cyclohexadiene to Benzene or Tetralin and Dihydroenophile. J. Org. Chemistry 45: 3344-3347. (1980)
  • 31. Terek RM, Lin C, Mak S, Meitner P, Jackson CL, Grunstein I and Block JA. Cloning and chromosomal localization of IK and IKP, a human chondrosarcoma associated gene. (manuscript submitted) ()