CCMB Faculty

CSC 247, HSC 9075
(323)442-2751 Voice
(323)442-2764 Fax
pragna@usc.edu

Pragna I. Patel

Ph.D.

Professor

Education Experience Honors & Awards Projects Publications

Education

INSTITUTION AND LOCATION	DEGREE	YEAR(s)	FIELD OF STUDY
Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX	Postdoc.	1982-1986	Human Molecular Genetics
West Virginia University, Morgantown, WV	Ph.D.	1982	Biochemistry
Bangalore University, India	B.Sc.	1976	Botany, Zoology

Research & Professional Experience

2005-present	Adjunct Professor, Department of Neurology, Baylor College of Medicine
2004-present	Adjunct Professor, Center for Craniofacial Molecular Biology, Division of Diagnostic Sciences, School of Dentistry, University of Southern California
2004-present	Professor, Institute for Genetic Medicine, Department of Biochemistry and Molecular Biology, Keck School of Medicine, University of Southern California
2003-2004	Professor, Departments of Neurology, and Molecular and Human Genetics, and Division of Neuroscience, Baylor College of Medicine, Houston, TX
1994-2003	Associate Professor, Departments of Neurology, and Molecular and Human Genetics, and Division of Neuroscience, Baylor College of Medicine, Houston, TX
1993-1994	Assistant Professor, Departments of Neurology, and Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
1987-1993	Assistant Professor, Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX
1986-1987	Instructor, Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX

Academic Honors and Awards

2003-present	Member, Working Group of the NIGMS Human Genetic Cell repository
2002-present	Charter member, NIH, Skeletal Biology Development and Disease study section
1999-2003	Member, Scientific Advisory Committee of Muscular Dystrophy Association, U.S.A.
1997-2001	Member, Access Committee for NIH Center for Inherited Disease Research (CIDR)
1997-2001	Member, Scientific Advisory Committee of Italian Telethon (U.S. Muscular Dystrophy Association equivalent)
1996-2000	Charter member, NIH Research Centers in Minority Institutions (RCMI) Review Committee
1983-1986	Arthritis Foundation Postdoctoral Fellow, Baylor College of Medicine
1976	Valedictorian and recipient of three gold medals from Bangalore University, India
1973-1976	Government of India National Science Talent Scholarship

Research Projects During the Last 3 Years

"Molecular Genetics of Human Tooth Development"

Principal Investigator: Pragna I. Patel, Ph.D.
Agency: National Institutes of Health
Type: R01 DE014102, Period: April 1, 2002 to March 31, 2006
The major goal of this project is to identify gene(s) underlying various forms of inherited hypodontia.

"Identification of a Gene underlying Dystonia"

Principal Investigator: Pragna I. Patel, Ph.D.
Agency: National Institutes of Health
Type: R01 NS044413, Period: August 1, 2002 to July 31, 2005
The goal of this project is to identify the gene underlying a variant form of dystonia segregating a large North American family.

"Regulation and Function of PMP22, the Gene Underlying CMT1A"

Principal Investigator: Pragna I. Patel, Ph.D.
Agency : Muscular Dystrophy Association
Type: Research Grant, Period: July 1, 2001 to March 31, 2005
The major goal of this project is to identify cis-acting elements and trans-acting factors that regulate the expression of PMP22, which underlies Charcot-Marie-Tooth disease type 1A.

Publications

Pemberton TJ, Gee J and Patel PI (2005) Gene discovery for dental anomalies: a primer for the dental professional. J Am Dent Assoc (in press)

M.L. Nino-Rosales and Patel PI (2005) Genes underlying familial hypodontia: A review and the role of the dental hygienist in future research. J Dent Hyg 79 (3): 10

Pemberton TJ, Das P and Patel PI (2005) Hypodontia: Genetics and future perspectives. Braz J Oral Sci 4:695-706

Patel PI and Brown DT (2004). PAX9 and Hypodontia. In “Inborn Errors of Development”, (eds. Epstein CJ, Erickson RP and Wynshaw-Boris A), pp 658 - 663.

Bi W, Parl, SS, Shaw CJ, Withers, MA, Patel PI and Lupski JR. (2003). Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion/duplication 17p11.2. Am J Hum Genet 73:1302-1315.

Das P, Hai M, Elcock C, Leal SM, Brown DT, Brook AH and Patel PI. (2003). Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. Am J Med Genet 118:35-42.

Hai M, Muja N, DeVries GH, Quarles RH and Patel PI. (2002). Comparative analysis of Schwann cell lines as model systems for myelin gene transcription studies. J Neurosci Res 4:497-508.

Das P, Stockton DW, Bauer C, Shaffer LD, D’Souza RN, Wright JT and Patel PI (2002). Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet 110:371-376.

Lucas RE, Vlangos CN, Das P, Patel PI and Elsea SH (2001). Genomic organization of the ~1.5 Mb Smith-Magenis syndrome critical interval: Transcription map, genomic contig, and candidate gene analysis. Eur J Human Genet 9:892-902.

Hai M, Bidichandani S and Patel PI (2001). Identification of a positive regulatory element in the myelin-specific promoter of the human PMP22 gene. J Neurosci Res 65:508-519.

Hai M, Bidichandani, SI, Hogan ME and Patel PI. (2001). Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene. Antisense Nucl Acid Drugs Dev. 11:233-246.

Patel PI and Isaya G (2001). Friedreich ataxia: From GAA triplet repeat expansion to frataxin deficiency. Am J Hum Genet 69:15-24.

Patel PI. (2001). Seeking families with missing teeth. Br Dent J. 190(6):283

Cavadini P, Gellera C, Patel PI and Isaya G (2000). Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae. Hum Mol Genet 9:2523-2530

Goldenberg M, Das P, Messersmith M, Stockton DW, Patel PI and D’Souza RN (2000). Clinical, radiographic and genetic evaluation of a novel form of autosomal dominant oligodontia. J Dental Res 79:1469-1475.

Stockton DW, Das P, Goldenberg M, D'Souza RN and Patel PI (2000). Mutation of PAX9 is associated with oligodontia. Nat Genet. 24:18-9.

Bidichandani SI, Purandare SM, Taylor EE, Gumin G, Machkhas H, Harati Y, Gibbs RA, Ashizawa T and Patel PI (1999). Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially-passaged lymphoblasts and enhanced mutagenesis in the flanking sequence. Hum Mol Genet. 8:2425-36.

Higgins JJ, Loveless JM, Jankovic J and Patel PI (1998). Evidence that a gene for essential tremor maps to chromosome 2p in four families. Movement Disorders 13:972-977.

Zara F, Labuda M, Garofalo PG, Duriscotti C, Bianchi A, Castelloti B, Patel PI, Avanzini G and Pandolfo M. (1998). Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy. Neurology 51: 493-498.

Bidichandani SB, Ashizawa T and Patel PI (1998). The GAA triplet repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet 62:111-121.

Elsea, SH, Purandare SM, Adell RA, Juyal RC, Davis JG, Finucane B, Magenis RE and Patel PI (1997). Definition of the critical interval for Smith-Magenis syndrome. Cytogenet Cell Genet, 79:276-281.

Bidichandani SI, Ashizawa T and Patel PI. (1997). Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet repeat expansion. Am J Hum Genet 60:1251-1256.

Jankovic J, Beach J, Pandolfo M and Patel PI. (1997). Familial essential tremor in four kindreds: Prospects for genetic mapping. Arch Neurol 54:289-294.

Juyal RC, Figuera LE, Hauge X, Elsea SH, Lupski JR, Greenberg F, Baldini A and Patel PI (1996). Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. Am J Hum Genet 58:998-1007.

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani S, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel J-L, Cocozza S, Koenig M and Pandolfo M (1996). Friedreich ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-1427.

Rincon-Limas DE, Amaya-Manzanares F, Nino-Rosales ML, Yu Y-J, Yang TP and Patel PI (1995). Ubiquitous and neuronal DNA-binding proteins interact with a negative regulatory element of the human HPRT gene. Mol Cell Biol 15:6561-6571.

Zara F, Bianchi A, Avanzini G, Castellotti B, Patel PI and Pandolfo M (1995). Mapping of genes predisposing to idiopathic generalized epilepsy. Hum Molec Genet 4:1201-1207.

Figuera LE, Pandolfo M, Dunne PW, Cantu JM and Patel PI (1995). Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-27.1. Nature Genet. 10:202-207.

Suter U, Snipes GJ, Schoener-Scott R, Welcher AA, Pareek S, Lupski JR, Murphy RA, Shooter EM and Patel PI (1994). Regulation of tissue-specific expression of alternative Peripheral Myelin Protein-22 (PMP22) gene transcripts by two promoters. J Biol Chem 269:25797-25808.

Rincon-Limas D, Geske R, Xue J-J, Hsu CY, Overbeek PA and Patel PI (1994). 5'-flanking sequences of the human HPRT gene direct neuronal expression in the brain of transgenic mice. J Neurosci Res 38:259-267.

Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI and Lupski JR (1994). Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Molec Genet 3:223-228.

Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Jackson Snipes G, Ortiz-Lopez R, Shooter EM, Patel PI and Lupski JR (1993). Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nature Genet. 5:189-194.

Wise CA, Garcia CA, Davis SN, Zhang H, Pentao L, Patel PI and Lupski JR (1993). Molecular analyses of unrelated Charcot-Marie-Tooth disease patients suggest a high frequency of the CMT1A duplication. Am J Hum Genet 53:853-863

Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI and Lupski JR (1993). Charcot-Marie-Tooth disease Type 1A associated with a spontaneous point mutation in the PMP22 gene. New Engl J Med 329:96-101.

Pentao L, Wise C, Chinault AC, Patel PI and Lupski JR (1992). The Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genetics 2:292-300.

Patel PI, Roa B, Welcher A, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter E, Lupski JR and Suter U (1992). The gene for the peripheral myelin protein PMP-22 gene is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet. 1:159-165.

Lupski JR, Wise CA, Kuwano A, Pentao L, Parke JT, Glaze DG, Ledbetter DH, Greenberg F and Patel PI (1992). Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nature Genet. 1:29-33.

Rincon-Limas D, Krueger D and Patel PI (1991). Functional characterization of the human hypoxanthine phosphoribosyltransferase gene promoter: evidence for a negative regulatory element. Mol Cell Biol 11:4157-4164.

Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A and Patel PI (1991). DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232.

Last Updated: 12/10/07