Sarah Tishkoff

Last updated
Sarah Anne Tishkoff
Born (1965-12-26) December 26, 1965 (age 57)
United States
Alma mater University of California, Berkeley (B.S.)
Yale University (M.Phil., Ph.D.)
SpouseEvan Leach
Awards
Scientific career
Fields Population Genetics
Epigenetics
Genomics
Institutions
Thesis Patterns of nuclear haplotype frequency variation and linkage disequilibrium in a global sample of human populations  (1996)
Doctoral advisor Kenneth Kidd
Website www.med.upenn.edu/tishkoff

Sarah Anne Tishkoff (born December 26, 1965) is an American geneticist and the David and Lyn Silfen Professor in the Department of Genetics and Biology at the University of Pennsylvania. [1] She also serves as a director for the American Society of Human Genetics and is an associate editor at PLOS Genetics, G3 (Genes, Genomes, and Genetics), and Genome Research. She is also a member of the scientific advisory board at the David and Lucile Packard Foundation. [2]

Contents

Tishkoff has been a leading figure in using genetics to advance understanding of modern human diversity. In particular she has made significant contributions to research on human genetic variation in African populations. In 1996, she and colleagues published the first paper to support the Out-of-Africa hypothesis using the nuclear genome, illustrating the extent of diversity among African populations. [3] In 2001, Tishkoff and colleagues were some of the first to show the genomic signature of natural selection in human populations. [4]

Some of her most cited research is a study on genomic variation around the lactase gene, the first to show coevolution of a cultural and genetic trait. Tishkoff was able to link evolution of cattle domestication to lactase persistence. [5] Her more recent work includes the largest genomic study across ethnically diverse Africans, and the identification of novel genetic variants associated with skin color. [6] [7]

Tishkoff is a recipient of a National Institutes of Health Director's Pioneer Award, a David and Lucile Packard Career Award, a Burroughs/Wellcome Fund Career Award, and a Penn Integrates Knowledge (PIK) endowed chair. [1] She was elected to the National Academy of Sciences in 2017. [8]

Early life

Sarah Tishkoff was born on December 26, 1965, in Los Angeles, California. She moved from Los Angeles to East Lansing, Michigan, when she was five, and from East Lansing to Klamath Falls, Oregon, in her early teens. [9] Her parents were both involved in academia. Her father was a professor of hematology and oncology at the University of California, Los Angeles and later the Director of the Red Cross for the Midwest of the United States. [9] Her mother was a professor of history at the Oregon Institute of Technology. [9] Tishkoff attended the University of California, Berkeley for her undergraduate degree. While in high school, she read Coming of Age in Samoa by Margaret Mead, sparking her initial interest in cultural anthropology. [10]

Tishkoff’s career was significantly influenced by several mentors throughout her education. While at UC Berkeley, she took courses in linguistics, cultural anthropology, physical anthropology, and archaeology, among other subjects. [9] While at UC Berkeley, she was particularly inspired by Allan Wilson’s research using molecular approaches to understand evolutionary change. [9] She was further inspired by many of Wilson’s graduate students, including Vincent Sarich, Mary Claire-King, and George Sensabaugh. [9]

In particular, while at UC Berkeley she took a course taught by Vincent Sarich, who was interested in genetics, human development, and evolution, and worked on comparing proteins in humans with those in chimpanzees. [9] His unique teaching style and controversial comments piqued Tishkoff’s interest in the field, and encouraged her to question human origins and the genetic basis of human traits more deeply. [9] After realizing its importance in conducting her work on human evolutionary history, she added genetics as an additional major at UC Berkeley. [9]

Tishkoff cites her experience meeting the Khoisan people at a meeting on Khoisan origins in Cape Town, during her time in Johannesburg, as a transformative event, as the Khoisan people have one of the oldest genetic lineages in the world. During this visit she met with cultural anthropologists, geneticists, and representatives of Khoisan groups. [10]

Tishkoff became a professor at the University of Maryland in 2000, and went to the field for the first time a year later. This initial four-month-long trip, funded by the David and Lucile Packard Career Award, allowed her to pursue fieldwork that led to research in African population history and the genetics of variable traits and disease. [10] Tishkoff’s lab continues to conduct field work in Africa, taking care to do the research ethically. Her lab works to have their African collaborators treated as equal partners in the research, and ensures research results are sent back to participants. [9]

Tishkoff is married to Evan Leach, whom she met on her first day at Yale graduate school. She currently resides in Pennsylvania. [9]

Education

Tishkoff graduated with a Bachelor of Science in genetics and a Bachelor of Arts in anthropology from the University of California, Berkeley in 1989. She went on to receive her Master of Philosophy in human genetics from the Yale School of Medicine in 1992. Tishkoff completed her formal education upon acquiring her PhD in genetics from Yale University in 1996, under the continued advisement of Kenneth Kidd. While working in the Kidd Lab, Tishkoff developed an interest in African genomics and evolution, leading her to write her thesis on the “Patterns of nuclear haplotype frequency variation and linkage disequilibrium in a global sample of human populations”. Shortly after completing her PhD, Tishkoff continued the research started in her thesis, and consequently published a paper titled “Global patterns of linkage disequilibrium at the CD4 locus and modern human origins” in the journal Science. [3]

Career

From 1997 to 2000, Tishkoff was a postdoctoral fellow at The Pennsylvania State University. During this period, Tishkoff was researching links between stable polymorphisms and microsatellites in human populations with Dr. Andrew G. Clark. She was also a visiting research fellow in 1997 at the University of the Witwatersrand in South Africa. In 2000, Tishkoff became an Assistant Professor in the Department of Biology at the University of Maryland, College Park. In 2005, Tishkoff was promoted to Associate Professor and she held that position until she left the university in 2007.

In 2008, Tishkoff became the David and Lyn Silfen University Associate Professor at the University of Pennsylvania. In 2012, Tishkoff became a Full Professor at the University of Pennsylvania, where she is currently the David and Lyn Silfen University Professor. Tishkoff also currently holds appointments in the Department of Biology, which is within the University’s School of Arts and Sciences, and in the Department of Genetics, which is within the University’s School of Medicine. [11] Tishkoff and her lab members study evolutionary genomics, African phenotypic diversity, the genetic basis of resistance to infectious diseases, and the genetic basis of human adaptations. Their work combines field work, laboratory research, and computational approaches to examine the effect of genetic variation in living and past African populations.

In 2017, Tishkoff was elected to the National Academy of Sciences, which is considered a high honor that recognizes distinguished scientists in their respective fields. [12] Throughout her career, Tishkoff has also been a part of numerous professional associations and scientific societies. She currently serves on the board of director for the American Society of Human Genetics, and she is a member of the scientific advisory board at the David and Lucile Packard Foundation. [13] She is an associate editor at PLOS Genetics, G3 (Genes, Genomes, and Genetics), and Genome Research.

Research

The primary focus of Tishkoff’s research career has been on human genetic variation in African populations. The central aims of her research are to better understand the origins of modern humans and the histories of African populations, and the genetic underpinnings of disease susceptibility. Advances in these areas of research may aid drug development for diseases with known genetic bases, and the development of more effective medical treatments for living African populations. [14]

African genomics

Integrative genomics

Tishkoff's research methodology applies an integrative genomics approach that combines data from the genome, epigenome, proteome, transcriptome, metabolome, and microbiome of various African ethnic groups to identify genetic and environmental factors that affect traits related to human measurements, metabolism and immune system. [15]

Evolutionary genomics

Tishkoff's work also addresses questions about the evolutionary history of Homo sapiens. One of the key findings in this area of research includes the discovery of genetic signatures of interbreeding between anatomically modern humans and extinct hominins. [16] Tishkoff was also involved in a study that rejected the hypothesis that ancestors of anatomically modern humans were genetically isolated in Africa. This study was based on whole-genome simulations from two Western African Pygmy populations, Biaka and Baka, and suggested the existence of introgression from an unknown archaic population. [17]

Phenotypic diversity

Sarah Tishkoff and colleagues also focus their research on acquiring genomic and phenotypic data from geographically and culturally distinct African populations, which are underrepresented in genetic studies [18] and whose analysis may uncover new aspects of human evolutionary history, including susceptibility to diseases and migration patterns. [19] By genotyping approximately 2400 individuals from 121 geographically diverse African populations, Tishkoff and colleagues found evidence for 14 genetically divergent ancestral populations in Africa, and by comparing the genetic information with archaeological and self-described phenotypic data they showed high cultural and linguistic similarity within each cluster. [20] Using their novel set of acquired genetic markers they were also able to trace back the shared ancestry of African Americans with African populations, finding a dominant shared ancestry from Niger-Kordofanian populations in Western Africa. [20] Additionally, based on this research they have claimed that migrations from non-African populations into northern Africa resulted in increased genetic diversity in that region. [21] Their work has demonstrated the need for further genomic analyses of African populations as a means of identifying correlations between allele frequencies and risk of certain diseases, and potentially designing therapeutic drugs for treating diseases in populations with similar genetic backgrounds. [21]

Genotypic and phenotypic adaptation in humans

Another focus of Tishkoff’s research group is understanding how different geographical and environmental influences correlate with genotypic and phenotypic changes in African populations.

Resistance to infectious disease

Tishkoff has focused on the influence of malaria on human populations to study the genetic basis of resistance to infectious diseases. Tishkoff and colleagues found that the presence of malaria was correlated with the allele frequencies of the G6PD that are believed to provide resistance to malaria but also to increase the risk of blood-related diseases. [4] Haplotype analysis of Med and A- allele mutations at the G6PD locus revealed that their increased frequency occurred after the agricultural practices began. [4] Tishkoff and colleagues suggested that agriculture led to greater exposure to malaria, which created a selective pressure for alleles that confer resistance. [4]

Tishkoff and colleagues examined the diversity of the malarial-susceptible locus, ICAM-1, and found greater variation within African populations compared to variation in other global populations. [22] They also found several alleles at the locus that were found ubiquitously in malarial regions, and one of them, “ICAM-1Kilifi,” was present in high frequencies in Asian and African populations. [22] This research suggested that there is a strong association between these allele frequencies and the presence of malaria, and that its analysis would help to find factors that affect malarial susceptibility and resistance. [22] In the same year, Tishkoff proposed that an adaptation to one infectious disease can make humans more susceptible to other diseases. [23] Two coding variants, G1 and G2, for the APOL1 protein are associated with resistance to African trypanosomiasis, or African sleeping sickness, but they also increase the risk of chronic kidney diseases. [23]

Lactase persistence

In a 2007 study published in Nature Genetics , Tishkoff and colleagues documented three new single-nucleotide polymorphisms (SNPs) associated with lactase persistence (G/C-14010, T/G-13915 and C/G-13907) among ethnic groups in East Africa that differ from the allele associated with lactose tolerance that is common in Europe (C/T-13910). The most widespread mutation was found among Nilo-Saharan speaking groups in Tanzania and Kenya, while two independent mutations were found among the Beja people in Sudan and Afroasiatic speaking people in Kenya. [24] The SNPs significantly increase the in-vitro activation of the lactase gene, which is known as LCT. [24] These mutations are an example of convergent evolution due to the shared cultural selective pressures of animal domestication and milk consumption, and they are a clear case of gene-culture coevolution. [24]

A 2014 study published in the American Journal of Human Genetics documented two more SNPs that have significant associations with the lactase persistence trait. The study also found the European variant C/T-13910 among some pastoralist groups in Northern and Central Africa. [25]

High altitude adaptations in Ethiopians

In 2012, Tishkoff participated in a study published in Genome Biology that compared the hemoglobin levels between populations living at high and low altitudes in Ethiopia. The study found that there are statistically significant differences in the hemoglobin levels between the high altitude population, the Amhara people, and the low altitude population, the Aari and Hamar people. [26] The genomic analysis recovered different gene candidates underlying adaptation to high altitude (CBARA1, VAV3, ARNT2, and THRB) [26] . This study demonstrates another example of convergent evolution, since the mutations found in the Ethiopian high altitude population are different than the ones found in Tibetan and Andean populations. [26]

PTC taste perception

Sarah Tishkoff participated in the first study on variability in PTC taste perception. PTC is the bitter antithyroid compound phenylthiocarbamide, and the ability to perceive this compound is attributed to the gene TAS2R38. [27] TAS2R38 is hypothesized to underlie a dietary adaptation that allows for avoidance of bitter-tasting poisonous foods. [28] Tishkoff and colleagues hypothesized that African populations with different diets would have differences in their receptor genes due to selection associated with their diets. The study was based on a sample of 57 African populations consisting of 611 individuals and a comparative set of 132 non-Africans from the Middle East, Asia, and the Americas. Researchers measured participants' PTC bitter taste sensitivity using a modified version of the Harris - Kalmus threshold method, sequenced genomes, and completed haplotype and genotype–phenotype association analyses. Results failed to support the original hypothesis. African populations with divergent diets showed similar haplotype frequencies and there was little genetic differentiation between Africans and non-Africans. [27] This stability suggests that variation of TAS2R38 is functionally important and does more than just steer us away from bitter tasting potential toxins.

Short stature in western African pygmies

Tishkoff also participated in a study on the adaptive evolution of Western African Pygmies and three neighboring Bantu-speaking agricultural populations with whom they admixed. This study aimed to gain a broadened understanding of the genetic basis of phenotypic diversity in Africa. The sample included 132 individuals from six populations, including three from pygmy populations, and methods included genotyping and ancestry estimation. [29] Results suggested that the short stature in Western African Pygmies may have resulted from selection for early reproduction, and metabolic and immune functions and that there may have been several selective events at different times in pygmy evolution. [29]

Science education

Tishkoff has numerous open-access online videos of topics relevant to her work, released in conjunction with a variety of research organizations, academic conferences, and educational foundations. She participated in the Howard Hughes Medical Institute's Biointeractive Lecture Series on Bones, Stones, and Genes: The Origin of Modern Humans. These themed events provided free scientific educational content online to "help bridge the gap between the textbook and the latest scientific findings". [30] Similarly, Tishkoff has released a short series of research talks on African Genomics with the organization iBiology, whose mission is to "convey, in the form of open-access free videos, the excitement of modern biology and the process by which scientific discoveries are made". [31] [32] Other notable examples are her videos on The Evolution of Human Biodiversity: Local Adaptation, Adaptation to Taste and Lactose Intolerance in Africa, and Evolution and Adaptation in Africa: Implications for Health and Disease. [33]

Awards, honors, and memberships

As an undergraduate at University of California, Berkeley, Tishkoff received the UC Berkeley President’s Undergraduate Fellowship in 1987 and graduated with University high honors and honors in anthropology. [2] She later received the Fulbright/DAAD Predoctoral Fellowship for her research work in Germany from 1991 to 1992. [2] After she received her PhD, she received a National Science Foundation Postdoctoral Fellowship for her research in molecular evolution from 1996 to 1998. [2] As a postdoctoral fellow at the University of Maryland, Tishkoff received a grant from the Burroughs Wellcome Fund to fund her research on human resistance to malaria in Africa from 1998 to 2003. [34] Her work would go on to be acknowledged by the David and Lucile Packard Fellowship for Science and Engineering in 2001.

While serving on the faculty at University of Maryland’s College of Life Sciences, Tishkoff received the Junior Faculty Excellence Award in 2003. [2] At her time at University of Pennsylvania, Tishkoff became an Integrates Knowledge Professor in 2008 for her work in African ancestry, lactase persistence, and taste sensitivity. [35] In 2009, Tishkoff was awarded the National Institutes of Health Director’s Pioneer Award to fund her research in Africa detailing genetic and environmental factors that influence human physiological traits. [36] She was elected to the National Academy of Sciences in 2017, and is also on the board of directors for the American Society of Human Genetics (ASHG). [13] In 2019, she received the Curt Stern Award from AHSG in recognition of her work on African human genetics. [37]

Related Research Articles

<span class="mw-page-title-main">Mutation</span> Alteration in the nucleotide sequence of a genome

In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA, which then may undergo error-prone repair, cause an error during other forms of repair, or cause an error during replication. Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements.

<span class="mw-page-title-main">Lactose intolerance</span> Inability to digest lactose

Lactose intolerance is caused by a lessened ability or a complete inability to digest lactose, a sugar found in dairy products. Humans vary in the amount of lactose they can tolerate before symptoms develop. Symptoms may include abdominal pain, bloating, diarrhea, flatulence, and nausea. These symptoms typically start thirty minutes to two hours after eating or drinking something containing lactose, with the severity typically depending on the amount consumed. Lactose intolerance does not cause damage to the gastrointestinal tract.

<span class="mw-page-title-main">Single-nucleotide polymorphism</span> Single nucleotide in genomic DNA at which different sequence alternatives exist

In genetics and bioinformatics, a single-nucleotide polymorphism is a germline substitution of a single nucleotide at a specific position in the genome that is present in a sufficiently large fraction of considered population.

Researchers have investigated the relationship between race and genetics as part of efforts to understand how biology may or may not contribute to human racial categorization.

Lactase persistence is the continued activity of the lactase enzyme in adulthood, allowing the digestion of lactose in milk. In most mammals, the activity of the enzyme is dramatically reduced after weaning. In some human populations though, lactase persistence has recently evolved as an adaptation to the consumption of nonhuman milk and dairy products beyond infancy. Lactase persistence is very high among northern Europeans, especially Irish people. Worldwide, most people are lactase non-persistent, and are affected by varying degrees of lactose intolerance as adults. However, lactase persistence and lactose intolerance do not always overlap.

<span class="mw-page-title-main">Human genetic variation</span> Genetic diversity in human populations

Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism.

In molecular biology, SNP array is a type of DNA microarray which is used to detect polymorphisms within a population. A single nucleotide polymorphism (SNP), a variation at a single site in DNA, is the most frequent type of variation in the genome. Around 335 million SNPs have been identified in the human genome, 15 million of which are present at frequencies of 1% or higher across different populations worldwide.

In genetics, a selective sweep is the process through which a new beneficial mutation that increases its frequency and becomes fixed in the population leads to the reduction or elimination of genetic variation among nucleotide sequences that are near the mutation. In selective sweep, positive selection causes the new mutation to reach fixation so quickly that linked alleles can "hitchhike" and also become fixed.

Human evolutionary genetics studies how one human genome differs from another human genome, the evolutionary past that gave rise to the human genome, and its current effects. Differences between genomes have anthropological, medical, historical and forensic implications and applications. Genetic data can provide important insights into human evolution.

<span class="mw-page-title-main">1000 Genomes Project</span> International research effort on genetic variation

The 1000 Genomes Project, launched in January 2008, was an international research effort to establish by far the most detailed catalogue of human genetic variation. Scientists planned to sequence the genomes of at least one thousand anonymous participants from a number of different ethnic groups within the following three years, using newly developed technologies which were faster and less expensive. In 2010, the project finished its pilot phase, which was described in detail in a publication in the journal Nature. In 2012, the sequencing of 1092 genomes was announced in a Nature publication. In 2015, two papers in Nature reported results and the completion of the project and opportunities for future research.

Population genomics is the large-scale comparison of DNA sequences of populations. Population genomics is a neologism that is associated with population genetics. Population genomics studies genome-wide effects to improve our understanding of microevolution so that we may learn the phylogenetic history and demography of a population.

Mark G. Thomas is a human evolutionary geneticist, Professor of Evolutionary Genetics at the Research Department of Genetics, Evolution and Environment at University College London since 2009. Prior to this, he was Cancer Research Campaign Postdoctoral Research Fellow at King's College London and then Wellcome Trust postdoctoral researcher in the department of Biological Anthropology at the University of Cambridge. He has acted as Editor-in-chief of the journal Annals of Human Genetics from 2015 to 2019 and Oct 2020 to Jan 2021.

Mitali Mukerji is a Professor and Head of the Department of Bioscience and Bioengineering, IIT Jodhpur. She was formerly a Chief Scientist at the CSIR Institute of Genomics and Integrative Biology with notable achievement in the field of human genomics and personalized medicine. She is best known for initiating the field of "Ayurgenomics" in partnership with her colleague Dr. Bhavana Prasher under the mentorship of Prof. Samir K. Brahmachari. Ayurgenomics is an innovative study, blending the principles of Ayurveda- the traditional Indian system of medicine- with genomics. Mukerji is also a major contributor in the Indian Genome Variation Consortium, a comprehensive database that is producing "the first genetic landscape of the Indian population", and has been an author in many publications that use IGV databases to study population genomics. Mukerji has done extensive research on hereditary ataxias, and is involved in many other projects related to tracking disease origins and mutational histories. She is the recipient of the prestigious Shanti Swarup Bhatnagar Award in 2010 for her contribution in the field of Medical Sciences.

Karin Broberg is a Swedish geneticist and toxicologist and professor at Karolinska Institutet and Lund University, Sweden, known for her work on human adaptation to challenging environments.

Recent human evolution refers to evolutionary adaptation, sexual and natural selection, and genetic drift within Homo sapiens populations, since their separation and dispersal in the Middle Paleolithic about 50,000 years ago. Contrary to popular belief, not only are humans still evolving, their evolution since the dawn of agriculture is faster than ever before. It has been proposed that human culture acts as a selective force in human evolution and has accelerated it; however, this is disputed. With a sufficiently large data set and modern research methods, scientists can study the changes in the frequency of an allele occurring in a tiny subset of the population over a single lifetime, the shortest meaningful time scale in evolution. Comparing a given gene with that of other species enables geneticists to determine whether it is rapidly evolving in humans alone. For example, while human DNA is on average 98% identical to chimp DNA, the so-called Human Accelerated Region 1 (HAR1), involved in the development of the brain, is only 85% similar.

Allele age is the amount of time elapsed since an allele first appeared due to mutation. Estimating the time at which a certain allele appeared allows researchers to infer patterns of human migration, disease, and natural selection. Allele age can be estimated based on (1) the frequency of the allele in a population and (2) the genetic variation that occurs within different copies of the allele, also known as intra-allelic variation. While either of these methods can be used to estimate allele age, the use of both increases the accuracy of the estimation and can sometimes offer additional information regarding the presence of selection.

<span class="mw-page-title-main">Muntaser Ibrahim</span> Sudanese geneticist (1957-)

Muntaser Eltayeb Ibrahim is a Sudanese geneticist and professor of molecular biology at the University of Khartoum, where he leads its Institute of Endemic Diseases. Science described him as "one of Sudan's most distinguished living scholars". His research focuses on human genetic diversity in Africa, human genetic variation contributing to susceptibility to infectious diseases such as malaria and leishmaniasis, and cancer genetics.

<span class="mw-page-title-main">Charles Rotimi</span> Nigerian geneticist

Charles Nohuoma Rotimi is the Scientific Director of the National Human Genome Research Institute (NHGRI). He joined the National Institutes of Health (NIH) in 2008 as the inaugural Director of the Trans-NIH Center for Research in Genomics and Global Health and was also the chief of the NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch. He works to ensure that population genetics include genomes from African populations and founded the African Society of Human Genetics in 2003 and was elected its first president. Rotimi was instrumental in the launch of the Human Heredity and Health in Africa (H3Africa) with the NIH and the Wellcome Trust. He was elected to the National Academy of Medicine in 2018.

Human genetic clustering refers to patterns of relative genetic similarity among human individuals and populations, as well as the wide range of scientific and statistical methods used to study this aspect of human genetic variation.

<span class="mw-page-title-main">African Society of Human Genetics</span>

The African Society of Human Genetics (AfSHG) is a learned society and professional membership organization focused on the study of human genetics and genomics in Africans, and open to researchers who are interested in the subject. It has played a role in founding several national genetics societies, and is affiliated with the societies of Cameroon, the Democratic Republic of the Congo, Mali, Egypt, Rwanda, Senegal, South Africa, and Tanzania.

References

  1. 1 2 "Tishkoff Lab / Sarah Tishkoff, Ph.D." www.med.upenn.edu. Retrieved 2018-11-06.
  2. 1 2 3 4 5 Tishkoff, Sarah A. "Curriculum Vitae" (PDF). Retrieved 5 November 2018.
  3. 1 2 Tishkoff, S. A.; Dietzsch, E.; Speed, W.; Pakstis, A. J.; Kidd, J. R.; Cheung, K.; Bonné-Tamir, B.; Santachiara-Benerecetti, A. S.; Moral, P. (1996-03-08). "Global Patterns of Linkage Disequilibrium at the CD4 Locus and Modern Human Origins". Science. 271 (5254): 1380–1387. Bibcode:1996Sci...271.1380T. doi:10.1126/science.271.5254.1380. ISSN   0036-8075. PMID   8596909. S2CID   4266475.
  4. 1 2 3 4 Tishkoff, Sarah A.; Varkonyi, Robert; Cahinhinan, Nelie; Abbes, Salem; Argyropoulos, George; Destro-Bisol, Giovanni; Drousiotou, Anthi; Dangerfield, Bruce; Lefranc, Gerard (2001-07-20). "Haplotype Diversity and Linkage Disequilibrium at Human G6PD: Recent Origin of Alleles That Confer Malarial Resistance". Science. 293 (5529): 455–462. doi: 10.1126/science.1061573 . ISSN   0036-8075. PMID   11423617. S2CID   12230221.
  5. ↑ Tishkoff, Sarah A.; Reed, Floyd A.; Ranciaro, Alessia; Voight, Benjamin F.; Babbitt, Courtney C.; Silverman, Jesse S.; Powell, Kweli; Mortensen, Holly M.; Hirbo, Jibril B. (January 2007). "Convergent adaptation of human lactase persistence in Africa and Europe". Nature Genetics. 39 (1): 31–40. doi:10.1038/ng1946. ISSN   1061-4036. PMC   2672153 . PMID   17159977.
  6. ↑ Tishkoff, Sarah A.; Reed, Floyd A.; Friedlaender, Françoise R.; Ehret, Christopher; Ranciaro, Alessia; Froment, Alain; Hirbo, Jibril B.; Awomoyi, Agnes A.; Bodo, Jean-Marie (2009-05-22). "The Genetic Structure and History of Africans and African Americans". Science. 324 (5930): 1035–1044. Bibcode:2009Sci...324.1035T. doi:10.1126/science.1172257. ISSN   0036-8075. PMC   2947357 . PMID   19407144.
  7. ↑ Crawford, Nicholas G.; Kelly, Derek E.; Hansen, Matthew E. B.; Beltrame, Marcia H.; Fan, Shaohua; Bowman, Shanna L.; Jewett, Ethan; Ranciaro, Alessia; Thompson, Simon (2017-10-12). "Loci associated with skin pigmentation identified in African populations". Science. 358 (6365): eaan8433. doi:10.1126/science.aan8433. ISSN   0036-8075. PMC   5759959 . PMID   29025994.
  8. ↑ "National Academy of Sciences Elects Four Penn Professors | Penn Today". Penn Today. 5 May 2017. Retrieved 2018-11-06.
  9. 1 2 3 4 5 6 7 8 9 10 11 Tishkoff, S. A. (2018, November 2). Sarah Tishkoff - Early and Personal Life [Telephone interview].
  10. 1 2 3 "r/science - Science AMA Series: I study the population history and genetic diversity of Africa, human evolution, and the evolutionary dynamics of complex disease risk. I'm Sarah Tishkoff, a professor of genetics and biology at the UPenn School of Medicine, AMA!". reddit. Retrieved 2018-11-06.
  11. ↑ Tishkoff, Sarah. "LinkedIn" . Retrieved November 2, 2018.
  12. ↑ "Three Penn Medicine Scientists Elected to the National Academy of Sciences – PR News". www.pennmedicine.org. Retrieved 2018-11-06.
  13. 1 2 "Sarah Tishkoff". www.nasonline.org. Retrieved 2018-11-06.
  14. ↑ "Tishkoff Lab / Research". www.med.upenn.edu. Retrieved 2018-12-21.
  15. ↑ Beltrame, Marcia Holsbach; Rubel, Meagan A; Tishkoff, Sarah A (December 2016). "Inferences of African evolutionary history from genomic data". Current Opinion in Genetics & Development. 41: 159–166. doi:10.1016/j.gde.2016.10.002. ISSN   0959-437X. PMC   5161638 . PMID   27810637.
  16. ↑ Nielsen, Rasmus; Akey, Joshua M.; Jakobsson, Mattias; Pritchard, Jonathan K.; Tishkoff, Sarah; Willerslev, Eske (January 2017). "Tracing the peopling of the world through genomics". Nature. 541 (7637): 302–310. Bibcode:2017Natur.541..302N. doi:10.1038/nature21347. ISSN   0028-0836. PMC   5772775 . PMID   28102248.
  17. ↑ Hsieh, PingHsun; Woerner, August E.; Wall, Jeffrey D.; Lachance, Joseph; Tishkoff, Sarah A.; Gutenkunst, Ryan N.; Hammer, Michael F. (2016). "Model-based analyses of whole-genome data reveal a complex evolutionary history involving archaic introgression in Central African Pygmies". Genome Research. 26 (3): 291–300. doi:10.1101/gr.196634.115. ISSN   1088-9051. PMC   4772012 . PMID   26888264.
  18. ↑ Beltrame, Marcia Holsbach; Rubel, Meagan A; Tishkoff, Sarah A (2016). "Inferences of African evolutionary history from genomic data". Current Opinion in Genetics & Development. 41: 159–166. doi:10.1016/j.gde.2016.10.002. ISSN   0959-437X. PMC   5161638 . PMID   27810637.
  19. ↑ Campbell, Michael C.; Tishkoff, Sarah A. (2008). "African Genetic Diversity: Implications for Human Demographic History, Modern Human Origins, and Complex Disease Mapping". Annual Review of Genomics and Human Genetics. 9 (1): 403–433. doi:10.1146/annurev.genom.9.081307.164258. ISSN   1527-8204. PMC   2953791 . PMID   18593304.
  20. 1 2 Tishkoff, Sarah A.; Reed, Floyd A.; Friedlaender, Françoise R.; Ehret, Christopher; Ranciaro, Alessia; Froment, Alain; Hirbo, Jibril B.; Awomoyi, Agnes A.; Bodo, Jean-Marie (2009-05-22). "The Genetic Structure and History of Africans and African Americans". Science. 324 (5930): 1035–1044. Bibcode:2009Sci...324.1035T. doi:10.1126/science.1172257. ISSN   0036-8075. PMC   2947357 . PMID   19407144.
  21. 1 2 Campbell, Michael C; Hirbo, Jibril B; Townsend, Jeffrey P; Tishkoff, Sarah A (2014). "The peopling of the African continent and the diaspora into the new world". Current Opinion in Genetics & Development. 29: 120–132. doi:10.1016/j.gde.2014.09.003. ISSN   0959-437X. PMC   4308437 . PMID   25461616.
  22. 1 2 3 Gomez, Felicia; Tomas, Gil; Ko, Wen-Ya; Ranciaro, Alessia; Froment, Alain; Ibrahim, Muntaser; Lema, Godfrey; Nyambo, Thomas B.; Omar, Sabah A. (2013-04-23). "Patterns of nucleotide and haplotype diversity at ICAM-1 across global human populations with varying levels of malaria exposure". Human Genetics. 132 (9): 987–999. doi:10.1007/s00439-013-1284-5. ISSN   0340-6717. PMC   3916218 . PMID   23609612.
  23. 1 2 Ko, Wen-Ya; Rajan, Prianka; Gomez, Felicia; Scheinfeldt, Laura; An, Ping; Winkler, Cheryl A.; Froment, Alain; Nyambo, Thomas B.; Omar, Sabah A. (July 2013). "Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations". The American Journal of Human Genetics. 93 (1): 54–66. doi:10.1016/j.ajhg.2013.05.014. ISSN   0002-9297. PMC   3710747 . PMID   23768513.
  24. 1 2 3 Tishkoff, Sarah A; Reed, Floyd A; Ranciaro, Alessia; Voight, Benjamin F; Babbitt, Courtney C; Silverman, Jesse S; Powell, Kweli; Mortensen, Holly M; Hirbo, Jibril B (2006-12-10). "Convergent adaptation of human lactase persistence in Africa and Europe". Nature Genetics. 39 (1): 31–40. doi:10.1038/ng1946. ISSN   1061-4036. PMC   2672153 . PMID   17159977.
  25. ↑ Ranciaro, Alessia; Campbell, Michael C.; Hirbo, Jibril B.; Ko, Wen-Ya; Froment, Alain; Anagnostou, Paolo; Kotze, Maritha J.; Ibrahim, Muntaser; Nyambo, Thomas (April 2014). "Genetic Origins of Lactase Persistence and the Spread of Pastoralism in Africa". The American Journal of Human Genetics. 94 (4): 496–510. doi:10.1016/j.ajhg.2014.02.009. ISSN   0002-9297. PMC   3980415 . PMID   24630847.
  26. 1 2 3 Scheinfeldt, Laura B; Soi, Sameer; Thompson, Simon; Ranciaro, Alessia; Woldemeskel, Dawit; Beggs, William; Lambert, Charla; Jarvis, Joseph P; Abate, Dawit (2012). "Genetic adaptation to high altitude in the Ethiopian highlands". Genome Biology. 13 (1): R1. doi: 10.1186/gb-2012-13-1-r1 . ISSN   1465-6906. PMC   3334582 . PMID   22264333.
  27. 1 2 Campbell, M. C.; Ranciaro, A.; Froment, A.; Hirbo, J.; Omar, S.; Bodo, J.-M.; Nyambo, T.; Lema, G.; Zinshteyn, D. (2011-11-29). "Evolution of Functionally Diverse Alleles Associated with PTC Bitter Taste Sensitivity in Africa". Molecular Biology and Evolution. 29 (4): 1141–1153. doi:10.1093/molbev/msr293. ISSN   0737-4038. PMC   3341826 . PMID   22130969.
  28. ↑ Purba, Laurentia Henrieta Permita Sari; Widayati, Kanthi Arum; Tsutsui, Kei; Suzuki-Hashido, Nami; Hayakawa, Takashi; Nila, Sarah; Suryobroto, Bambang; Imai, Hiroo (2017-01-01). "Functional characterization of the TAS2R38 bitter taste receptor for phenylthiocarbamide in colobine monkeys". Biology Letters. 13 (1): 20160834. doi:10.1098/rsbl.2016.0834. ISSN   1744-9561. PMC   5310586 . PMID   28123110.
  29. 1 2 Jarvis, Joseph P.; Scheinfeldt, Laura B.; Soi, Sameer; Lambert, Charla; Omberg, Larsson; Ferwerda, Bart; Froment, Alain; Bodo, Jean-Marie; Beggs, William (2012-04-26). "Patterns of Ancestry, Signatures of Natural Selection, and Genetic Association with Stature in Western African Pygmies". PLOS Genetics. 8 (4): e1002641. doi: 10.1371/journal.pgen.1002641 . ISSN   1553-7404. PMC   3343053 . PMID   22570615.
  30. ↑ "Holiday Lectures | HHMI BioInteractive". www.hhmi.org. Retrieved 2018-12-21.
  31. ↑ "Sarah Tishkoff • iBiology". iBiology. Retrieved 2018-12-19.
  32. ↑ "About Us • iBiology". iBiology. Retrieved 2018-12-19.
  33. ↑ University of California Television (UCTV), CARTA: The Evolution of Human Biodiversity: Sarah Tishkoff - Local Adaptation , retrieved 2018-12-19
  34. ↑ "Burroughs Wellcome Fund" (PDF). Winter 2002. Retrieved November 5, 2018.
  35. ↑ "PIK :: Penn Integrates Knowledge – MEET THE PROFESSORS". pikprofessors.upenn.edu. Retrieved 2018-11-06.
  36. ↑ "Penn Geneticist Sarah A. Tishkoff Receives 2009 National Institutes of Health Pioneer Award | Penn Today". Penn Today. 24 September 2009. Retrieved 2018-11-06.
  37. ↑ "ASHG Honors Charles Rotimi & Sarah Tishkoff with 2019 Curt Stern Award | ASHG". www.ashg.org. 22 July 2019. Retrieved 2019-07-26.
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.