http://mars.uthscsa.edu/POClab/poc.html (PC Press Internet CD, 03/1996)
O'Connell's CV
Peter O'Connell, Ph.D.
(mailto: oconnell@uthscsa.edu)
Associate Professor
Degrees
- 1983, Ph.D., Brandeis University
- 1974, B.A., Brandeis University
Postdoctoral Training
- 1982-84, University of Utah
Research and Professional Experience:
- 1974-1975 Research Assistant, Worchester Foundation for Experimental Biology, Shrewbury, MA
- 1975-1977 Research Assistant, Dept. of Biochemistry, Brandeis University, Waltham, MA
- 1984-1989 Research Associate, Howard Hughes Medical Institute, Salt Lake City, UT
- 1987-1991 Research Asst. Prof., Dept. of Human Genetics, Univ. of Utah, Salt Lake City, UT
- 1989-1991 Sr. Research Associate, Howard Hughes Medical Institute, Univ. of Utah Medical School, Salt Lake City, UT
- 1991-Present Associate Professor, Departments of Pathology and Cellular and Structural Biology, University of Texas Health Science Center, San Antonio, TX
Honors and Awards:
- Graduate: Recipient, NIH Graduate Training Award
- Postdoctoral: Recipient, Howard Hughes Medical Institute Fellowship
- Professional: Co-Inventor, Genetic Identification with Variable Number of Tandem Repeat Markers. U.S. Patent No. 4,963,663 (with co-inventors M. Leppert, Y. Nakamura, R. White).
Co-Inventor, Neurofibromatosis Type 1 Gene, U.S. Patent 5,227,292 (with co-inventors R.M. Cawthon, D. H. Viskochil, R. White)
Professional Activities:
- Reviewer for Genomics, American Journal of Human Genetics, Nature Genetics, Cytogenetics and Cell Genetics, Breast Cancer Research and Treatment.
- Member, American Society of Human Genetics, American Association for the Advancement of Science, Centre d'Etude du Polymorphisme Humain (CEPH)
- Director, CEPH Laboratory 102
Selected Publications:
- Vaslet C.A., O'Connell P., Isquiardo M., and Rosbash M. 1980. Isolation and mapping of a cloned ribosomal protein gene of Drosophilia melanogaster. Nature 285:647-676.
- O'Connell P. and Rosbash M. 1984. Sequence, structure and codon preference of the Droshophia ribosomal protein 49 gene. Nucl. Acids Res. 12:5495-5513.
- White R.L., Woodward S., Leppert M., O'Connell P., Nakamura Y., Hoff M., Herbst J., Lalouel J.-M., and VandeWoude, G. 1985. A closely linked genetic marker for cystic fibrosis. Nature 318:382-384.
- Nakamura Y., Leppert M., O'Connell P., Wolff R., Culver M., Martin C., Fujimoto E., Hoff M., Kumbin E., and White R. 1987. Variable number of tandem repeat (VNTR) markers for human gene mapping. Science 235:1616-1622.
- Barker D., Wright E., Nguyen K., Cannon L., Fain P., Goldgar D., Bishop D.T., Carey J., Baty K., Kivlin J., Willard H., Waye J.S., Craig C., Leinwald L., Nakamura Y., O'Connell P., Leppert M., Lalouel J.-M., White R., and Skolnick M. 1987. Gene for von Rechlinghausen neurofibromatosis is in the percentomeric region of chromosome 17. Science 236:1100-1102.
- Leppert M., Dobbs M., Scambler P., O'Connell P., Nakamura Y., Stauffer D., Woodward S., Burt R., Hughes J., Cardern E., Lathrop M., Wasmuth J., Lalouel J.-M., and White, R. 1987. The gene for familial polyposis coli maps at the long arm of chromosome 5. Science 238:1411-1413.
- O'Connell P., Leach R., Ledbetter D., Cawthon R., Culver M., Eldridge R., Frej A.-K., Holm T., Wolff E., Theyer M., Schager A., Fountain J., Wallis M., Collins F., Skolnick M., Rich D., Fournier R., Baty B., Carey J., Leppert M., Lathrop M., and White R. 1989. Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatois type 1. Am. J. Hum. Genet. 44:51-57.
- O'Connell P., Leach R., Cawthon R., Culver M., Stevens J., Viskochil D., Fournier R., Rich D., Ledbeetter D., and White R. 1989. Two NF-1 translocation breakpoints map within a 600-kb segment in human chromosome 17q11.2. Science 244:1087-88.
- Viskochil D., Buchberg A.M., Xu G., Cawthon R.M., Stevens J., Wolff R.K., Culver M., Carey J.C., Copeland N.G., Jenkins N.A., White R., and O'Connell P. 1990. Deletions and translocations interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62:187-192.
- Lemons R.S., Eilender D., Waldman R., Rebentisch M., Frej A.-K., Ledbetter D.H., Willman C., McConnell T., and O'Connell P. 1990. Cloning and characterization of the t(15;17) translocation breakpoint region in acute promyelocytic leukemia. Genes Chromosom Cancer 2:79-87.
- O'Connell P., Viskochil D., Buchberg A.M., Fountain J., Cawthon R.M., Culver M., Stevens J., Rich D.C., Ledbetter D.H., Wallace M., Carey J.C., Jenkins N.A., Copeland N.G., Collins F.S., and White R. 1990. The human homolgue of murine Evi-2 likes between translocation breakpoints associated with von Recklinghausen neurofibomatosis. Genomics 7:547-554.
- Xu G., O'Connell P., Viskochil D., Cawthon R., Robertson M., Culver M., Dunn D., Stevens J., Gesteland R., White R., and Weiss,R. 1990. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 62:599-608.
- Ryan S.G., Dixon M.J., Nigro M.A., Kelts M.A., Markand O.N., Terry J.C., Shiang R., Wasmuth J., O'Connell P. 1992. A genetic and radiation hybrid map of the hyperekplexia region. Am. J. Hum. Genet. 51:1334-1343
- O'Connell P., Plaetke R., Matsunami N., Odelberg S., Jorde L., Chance P., Leppert M., Lalouel J.-M., and White R. 1993. An Extended Genetic Linkage Map and an "Index" Map for Human Chromosome 17. Genomics 15: 38-47.
- Shiang, R., Ryan, S.G., Hahn, A.F., O'Connell, P., Wasmuth, J.J. (1993). Point mutations in the a1 subunit of the inhibitory glycine receptor cause the dominant neurological disorder, hyperekplexia. Nature Genet. 5:351-358.
- O'Connell P., Albertsen H., Matsunami N., Taylor T., Hundley J.E., Johnson-Pais T.L., Reus B., Lawrence E., Ballard L., White R., and Leach R.J. 1994. A radiation hybrid map of the BRCAI region. Am. J. Hum. Genet. 54:526-534.
- Allred, D.C., O'Connell, P., and Fuqua, S.A.W., (1994). Biomarkers in early breast neoplasia. J. Cell. Biochem. 17G:125-131 (1993)
- Shannon, K.M., O'Connell, P., Martin, G.A., Paderanga, D., Olson, K., Dinndorf, P., McCormick, F. (1994). Loss of the NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeliod disorders. (1994). New Eng. J. Med. 330:597-601.
- Ryan, S.G., Buckwalter, M.S., Lynch, J.W., Handford, C.A., Segura, L., Shaing, R., Wasmuth, J.J., Camper, S.A., Schofield, P., O'Connell, P. (1994). A missense mutation in the gene encoding the a1 subunit of the inhibitory glycine receptor in the spasmodic mouse. Nat. Genet. 7:131-135.
The research in my laboratory is directed towards the identification of genes that cause human diseases. We also carry out genetic and physical mapping of human genes as part of the Human Genome Project, an international effort to comprehensively map all the human genes. We study families segregating Mendelian disorders in order to identify the locations of disease-causing genes. Once a map position is known, genes expressed within the target regions can be isolated and characterized. At present, we are studying families with inherited predispositions to neurological disorders, breast cancer, and non-insulin dependent diabetes mellitus (NIDDM, or type 2 diabetes).
The technology used in these gene mapping studies also permits analysis of formalin-fixed, paraffin-embedded biopsy specimens from human neoplasia. My laboratory is studying de novo genetic changes present in these neoplasia in order to help identify genetic loci important in the genesis of human cancers. Our present focus is identification of these genetic alterations in breast, prostate, and gastric cancers. These studies will improve classification and diagnosis of these disorders, and aid in the isolation of genes involved in tumor progression.
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