864-941-8139 (voice)
864-941-8141 (fax)
dupont@ggc.org |
Director, Cytogenetics
Laboratories
(Associate Clinical Laboratory
Geneticist)
- Ph.D. Zoology/Human Genetics, University of Texas,
Austin 1989
- Fellow (NIH), Lawrence Livermore National Laboratory,
Livermore, CA 1989-91
- Fellow (Clinical Cytogenetics), University of Texas
Health Science Center, San Antonio 1991-94
- Asst. Professor, Depts. Cellular and Structural Biology
and Pediatrics, University of Texas Health Science Center, San Antonio
1996-98
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Asst. Professor and Asst. Director, Cytogenetics
Laboratory, Depts. of Pathology and Pediatrics, University of Texas Health
Science Center, San Antonio 1998–99
-
Director, Cytogenetics Laboratory, Greenwood Genetic Center
1999-present
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Dr.
DuPont came to the GGC in 1999 as Director of the cytogenetics laboratory. This
laboratory currently conducts over 4,000 clinical tests and 1,000 research tests
per year and has 16 technologists. Her major areas of research interest include
subtelomere rearrangements, phenotype/genotype mapping of chromosome
rearrangements and deletion syndromes, the mechanisms of chromosome
rearrangements, as well as, chromosome alterations in cancer. Her laboratory is
currently working on studying the telomeres of a large population of South
Carolina patients with mental retardation of unknown etiology and dysmorphic
features. She is also working in collaboration with Dr. Anand Srivastava and Dr.
Charles Schwartz on genotype/phenotype mapping of patients with apparently
balanced chromosome rearrangements.
Dr.
DuPont is board certified by the American Board of Medical Genetics (1996) in
clinical cytogenetics. She is a member of the American Society of Human
Genetics, and a fellow of the American College of Medical Genetics. She is also
a reviewer for a number of scientific journals including American Journal of
Medical Genetics and Cytogenetics and Cell Genetics.
Selected Publications:
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Brkanac Z, Cody JD, Leach RJ, DuPont BR. Identification of Cryptic Chromosome Rearrangements in Patients with
18q-Deletion Syndrome. Am J Hum Genet 62:1500-1506, 1998.
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Yao Y-L, DuPont BR, Ghosh S, Fang Y, Leach RJ, Seto E. Cloning,
Chromosomal Localization, and Promotor Analysis of the Human Transcription
Factor YY1. Nucleic Acids Res 26:3776-3783, 1998.
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Cody JD, Ghidoni PD, DuPont BR, Hale DE, Hilsenbeck SG, Stratton RF, Hoffman DS, Muller S, Schaub RL,
Leach RL, Kaye
CI. Congenital Anomalies and Anthropometry of 42 Individuals with
Deletions of Chromosome 18q. Am J Med Genet 85:455-462, 1999.
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DuPont BR, Hu C-C, Reveles X, Simmer JP. Assignment of Serine Protease 17
(PRSS17) to human chromosome band(s) 19q13.3-q13.4 by in situ hybridization.
Cytogenet Cell Genet 86:212-213, 1999.
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Schaub R, DuPont BR, Roodman GD, Leach RJ, Reddy SV. Assignment of OSTF1 to human chromosome bands 12q24.1-q24.2 by in
situ hybridization. Cytogenet Cell Genet 88:87-90, 2000.
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Hu
C-C, Hart TC, DuPont BR, Chen JJ, Jiang H, Sun X, Qian Q, Zhang CH, Wright T, Simmer
JP. Cloning Human Enamelin cDNA,
Chromosomal Localization and Analysis of Expression during Tooth Development. J
Dental Res 79:912-919, 2000.
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Collins JS, Olson RL, DuPont BR, Best RG, Wolff DJ, Stevenson RE. Prevalence of Aneuploidies in South Carolina in the
1990's. Genet Med 4:131-135, 2002.
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Vervoort VS, Beachem M, Edwards PS, Ladd S, Mille, KE, de Mollerat
X, Clarkson K, DuPont BR, Schwartz CE, Stevenson RE, Boyd
E, Srivastava AK. AGTR2 Mutations in X-linked Mental Retardation.
Science 296:2401-2403, 2002.
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Edmonson AM, Mayfield DK, Vervoort V, DuPont BR, Argyropoulos G. Characterization of a human import component of the
mitochondrial outer membrane, TOMM70A. Cell Commun Adhes 9(1):15-27, 2002.
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Vervoort VS, Viljoen D, Smart R, Suthers G, DuPont BR,
Abbott A, Schwartz CE. Sorting nexin 3(SNX3) is Disrupted in a Patient with a
Translocation t(6;13)(q21;q12) and Microcephaly, Microphthalmia, Ectrodactyly,
Prognathism (MMEP) Phenotype. J Med Genet 39:893-899, 2002.
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DuPont BR, Stapleton GA, Chapman S, Michaelis RC. Prenatal Diagnosis of Jacobsen Syndrome. Proc
Greenwood Genet Center 22:13-16, 2003.
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Saner KJ, Welter BH,
Zhang F, Hansen E, DuPont BR, Wei Y, Price TM. Cloning and Expression
of a Novel, Truncated, Progesterone Receptor. Mol Cell Endo 200:155-163, 2003.
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Schmidt MA,
DuPont BR, Rogers RC. Mother and Daughter with an Interstitial
Deletion of 13q. Proc Greenwood Genet Center 22:8-12, 2003.
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Seaver LH, Everman
DB, DuPont BR. Hemifacial microsomia and imperforate anus
due to supernumerary marker chromosome 22. Proc Greenwood Genet Center 23:3-5,
2004.
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Ward A, DuPont BR,
Colby R. Interstitial duplication of 1p (p13p21) in a female.
Proc Greenwood Genet Center 23:6-9, 2004.
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Anderson EM, DuPont BR, Saul RA, Rogers RC. Terminal 3q29 deletion in a male with
developmental delay. Proc Greenwood Genet Center 23:17-19, 2004.
- Hunter AGW, DuPont BR, McLaughlin M, Hinton L, Baker
E, Ades L, Haan E, Schwartz CE. The Hunter-McAlpine syndrome results from
duplication 5q35-qter. Clin Genet 67(1):53-60, 2005.
- Lee J, DuPont BR, and Rogers RC. Partial trisomy 13q
and trigonocephaly. Proc Greenwood Genet Center 24:4-8, 2005.
- Risheg H, Cohn D, Lee K, Skinner S, Friez MJ, DuPont BR.
Familial subtelomere rearrangement determined via multiplex ligation dependent
probe amplification (MLPA) and fluorescent in-situ hybridization (FISH). Proc
Greenwood Genet Center 24:12-18, 2005.
- Bhat SS, Schmidt KR, Ladd S, Kim KC, Schwartz CE, Simensen
RJ, DuPont BR, Stevenson RE, Srivastava AK. (2006) Disruption of DMD
and deletion of ACSL4 causing developmental delay, hypotonia, and multiple
congenital anomalies. Cytogenet Genome Res 112(1-2):170-175, 2006.
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