Sarah Tishkoff, Ph.D.
Assistant Professor
Department of Biology
Biology-Psychology Building
University of Maryland
College Park, Maryland 20742
email:st130@umail.umd.edu
Education/Positions:
| B.S. |
1989 |
Anthropology/Genetics, University of California at Berkeley |
| M.Phil. |
1992 |
Dept. of Genetics, Yale Medical School, Yale University |
| Ph.D. |
1996 |
Dept. of Genetics, Yale Medical School, Yale University (Kenneth Kidd
advisor) |
| Postdoc |
1997-2000 |
Dept. of Biology, Pennsylvania State University (Andrew Clark advisor) |
| Assistant Prof. |
2000 |
Dept. of Biology, University of Maryland at College Park |
Research Interests:
Human Evolutionay Genetics: I am interested in examining levels and
patterns of extant genetic variation among modern humans and non-human
primates in order to elucidate the evolutionary forces (mutation,
migration, drift, selection) that shape and maintain genetic variation in
contemporary populations. These data will be used to reconstruct historical
demographic and population differentiation events (including population
expansion and contraction, subdivision, and migration) and to test
hypotheses of modern human origins.
African Genetic Diversity Project: Despite the fact that Africa plays a
central role in human evolution, African populations have been greatly
underrepresented in the study of human genetic diversity. My goal is to
establish a large database of genetic diversity among geographically,
linguistically, and culturally diverse African populations. This study will
be important for reconstructing modern human origins as well as recent
African and African American population histories. The study of African
genetic diversity will also be important for the identification of the
genetic basis of diseases prevalent in African and African American
populations (e.g. hypertension, diabetes, prostate cancer).
Tanzanian Genetic Diversity Project: As part of an NSF funded collaborative
project with Dr. Joanna Mountain in the Department of Anthropological
Sciences at Stanford University I will be examining genetic diversity among
linguistically diverse Tanzanian populations. The presence in Tanzania of
peoples speaking languages representing all four of the major linguistic
families in Africa makes this nation a logical place to sample a wide range
of the genetic diversity likely to be present in East Africa. The specific
aims of this research project are 1) to characterize genetic variation
among linguistically diverse Tanzanian populations; 2) to reconstruct past
relationships of these East African populations to one another and to other
African populations and 3) to test hypotheses regarding the possible origin
of modern humans in East Africa.
Human Medical Genetics: Generally speaking, I am interested in the
identification of genes involved in human disease as well as the
identification of the evolutionary and demographic forces that influence
the origin, maintenance, and distribution of genetic disease in humans. A
current project funded by the Burroughs Wellcome Fund is to characterize
molecular variation in genes involved in malarial resistance among globally
diverse human populations. This study is part of a broader interest in the
genetic basis of disease resistance and the co-evolution of infectious
agents and their human hosts.
Global patterns of linkage disequilibria (LD) in the human genome: There is
an increasing interest in identifying genes involved in complex disease
(e.g. hypertension, diabetes, obesity, schizophrenia, and some types of
cancer). Gene mapping approaches for complex disease often relies on
detection of association between marker and disease alleles within
populations. The design and effectiveness of these studies will depend on
underlying levels and patterns of LD in the populations of interest.
Linkage disequilibrium will be influenced both by locus-specific factors
(e.g. mutation and recombination rates, selection) as well as by population
and demographic history (e.g. substructure, admixture, genetic drift,
population expansion, and founder events). Patterns of LD are being
examined among ethnically diverse populations in order to better understand
how locus-specific effects as well as population and demographic history
shape the distribution of LD in the human genome and to identify
populations that will be particularly informative for genetic linkage and
association studies.
Honors and Funding History
U.C. Berkeley Anthropology Honors U.C. Berkeley University High Honors U.C.
Berkeley President's Undergraduate Fellowship 1987 National Institutes of
Health Predoctoral traineeship 1989-1994 DAAD Predoctoral fellowship for
research in Germany 1991/1992 NSF Sloan Postdoctoral fellowship in
molecular evolution 1996-1998 Burroughs/Wellcome Fund Career Award in the
Biomedical Sciences 1998-2003 (PI) NSF Physical Anthropology grant
1999-2003 (PI) Leakey Fund Grant 1999-2000 (PI) Wenner Gren Foundation
Grant 1999-2000 (PI) NSF IGERT training grant in Human Evolutionary Biology
2000-2005 (co-PI, Alison Brooks, Daniel Lieberman co-PIs, Bernard Wood PI).
Representative Publications
Tishkoff, S.A., R. Varkonyi, N. Cahinhinan, S. Abbes, G. Argyropolous, G.
Destro-Bisol, A. Drousiotou, B. Dangerfield, G. LeFranc, J. Loiselet, A. Piro, M.
Stoneking, A. Tagerelli, G. Tagerelli, E. Touma, S. Williams, A.G. Clark, "Haplotype diversity and linkage disequilibrium at human G6PD:recent
origin of alleles that confer malarial resistance", Science. Jul 20;293:455-62.
Tishkoff, S.A., A.J. Pakstis, G. Ruano, and K.K. Kidd. "The accuracy
of statistical methods for estimation of haplotype frequencies: An example
from the CD4 locus ".
American Journal of Human Genetics 67:
518-522, 2000.
Destro-Bisol, G., R. Maviglia, A. Caglia, I. Boschi, G. Spedini, V.
Pascali, A.G. Clark, and S.A. Tishkoff, "Estimating European admixture
in an African American population using microsatellites and a microsatellite
haplotype (CD4/Alu)", Human Genetics 104:149-157, 1999.
Zietkiweicz, E., V. Yotova, M. Jarnik, M. Korab-Laskowska, K.K. Kidd,
D. Modiano, R. Scozzari, M. Stoneking, S. Tishkoff, M. Batzer, and D. Labuda,
"Genetic structure of the ancestral population of modern humans", Journal
of Molecular Evolution 47:146-155.
Tishkoff, S.A., A. Goldman, F. Calafell, W.C. Speed, B. Bonné-Tamir,
J.R. Kidd, A.J. Pakstis, T. Jenkins, and K.K. Kidd, "A global haplotype
analysis of the DM locus: implications for the evolution of modern humans
and the origin of myotonic dystrophy mutations", American Journal of
Human Genetics 62(6):1389-1402, 1998.
Tishkoff, S.A., K.K. Kidd, and A.G. Clark, "Inferences of modern human
origins from variation in CD4 haplotypes", Proceedings of the Trinational
Workshop on Molecular Evolution (M.K. Uyenoyama and A. von Haeseler,
Eds), Duke University Publications Group, Duke University, Durham, North
Carolina, pp. 181-198, 1998.
Zietkiewicz, E., V. Yotova, M. Jarnik, M. Korab-Laskowska, K.K. Kidd,
D. Modiano, R. Scozzari, M. Stoneking, S. Tishkoff, M. Batzer, and D. Labuda,
"Nuclear DNA variability data support a recent common origin of Homo
sapiens", Gene 205:161-171, 1997.
Michalatos-Beloin, S., S.A. Tishkoff, K.L. Bentley, K.K. Kidd, and G.
Ruano, "Molecular haplotyping of genetic markers 10kb apart by allele-specific
long range PCR" Nucleic Acids Research 24:4841-4843,
1996. (S. Michalotos-Beloin and S.A. Tishkoff contributed equally to this
paper).
Risch, N., K.K. Kidd, and S.A. Tishkoff, "Genetic data and the African
origin of humans", Science 274:1548-1549, Nov. 29, 1996.
Tishkoff, S.A., K.K. Kidd, and N. Risch, "Interpretations of Multiregional
Evolution", Science 274, letter to the editor, Nov. 1, 1996.
Tishkoff, S.A., E. Dietzsch, W. Speed, A.J. Pakstis, K. Cheung, J.R.
Kidd, B. Bonné-Tamir, A.S. Santachiara-Benerecetti, P. Moral, E.
Watson, M. Krings, S. Pääbo, N. Risch, T. Jenkins, and K.K. Kidd,
"Global patterns of linkage disequilibrium at the CD4 locus and modern
human origins", Science 271(5254):1380-7, 1996.
Tishkoff, S.A., G. Ruano, J.R. Kidd, and K.K. Kidd, "Distribution and
frequency of a polymorphic Alu insertion at the PLAT locus in humans",
Human
Genetics 97(6):759-64, 1996.
Ruano, G., A.S. Deinard, S. Tishkoff, and K.K. Kidd, "Detection of DNA
sequence variation via deliberate heteroduplex formation from genomic DNAs
amplified En Masse in 'population tubes'" PCR Methods and Applications3:225-231,
1994.
Tishkoff, S.A., A.J. Pakstis, M. Stoneking, J.R. Kidd, G. Destro-Bisol, A. Sanjantila, R. Lu,
A.S. Deinard, G. Sirugo, T. Jenkins, K.K. Kidd, and A.G. Clark, "ShortTandem-Repeat Polymorphism/Alu
Haplotype Variation at the PLAT Locus:Implications for Modern Human Origins", AM J Hum Genet. Oct;67(4):901-925
