Sarah A. Tishkoff
A5080098465- Genetic Associations and Epidemiology
- Forensic and Genetic Research
- Race, Genetics, and Society
- Nutrition, Genetics, and Disease
- Genomics and Rare Diseases
- Genetics, Bioinformatics, and Biomedical Research
- Genetic diversity and population structure
- Genetic and phenotypic traits in livestock
- Genetic Mapping and Diversity in Plants and Animals
- Digestive system and related health
- Epigenetics and DNA Methylation
- RNA and protein synthesis mechanisms
- Genomics and Phylogenetic Studies
- melanin and skin pigmentation
- Telomeres, Telomerase, and Senescence
- Forensic Anthropology and Bioarchaeology Studies
- Genomic variations and chromosomal abnormalities
- Gut microbiota and health
- Biochemical Analysis and Sensing Techniques
- Evolution and Genetic Dynamics
- Primate Behavior and Ecology
- Gene expression and cancer classification
- Metabolism and Genetic Disorders
- Molecular Biology Techniques and Applications
- Skin Protection and Aging
University of Pennsylvania
2016-2025
California University of Pennsylvania
2020-2023
American Society of Human Genetics
2022
Botswana Open University
2021
Penn Center for AIDS Research
2020
Philadelphia University
2010-2017
Prostate Cancer Research
2016
University of Maryland, College Park
2001-2011
Victoria University of Wellington
2008
University of Auckland
2008
Africa is the source of all modern humans, but characterization genetic variation and relationships among populations across continent has been enigmatic. We studied 121 African populations, four American 60 non-African for patterns at 1327 nuclear microsatellite insertion/deletion markers. identified 14 ancestral population clusters in that correlate with self-described ethnicity shared cultural and/or linguistic properties. observed high levels mixed ancestry most reflecting historical...
High-coverage sequencing of 79 (wild and captive) individuals representing all six non-human great ape species has identified over 88 million single nucleotide polymorphisms providing insight into genetic variation evolutionary history enabling comparison with human diversity. In an effort to provide insights variation, the authors sequence wild- captive-born from across seven subspecies. Their data analyses shed light on population structure gene flow, inbreeding, inferred dynamics...
The frequencies of low-activity alleles glucose-6-phosphate dehydrogenase in humans are highly correlated with the prevalence malaria. These “deficiency” thought to provide reduced risk from infection by Plasmodium parasite and maintained at high frequency despite hemopathologies that they cause. Haplotype analysis “A−” ”Med“ mutations this locus indicates have evolved independently increased a rate is too rapid be explained random genetic drift. Statistical modeling A− allele arose within...
Haplotypes consisting of alleles at a short tandem repeat polymorphism (STRP) and an Alu deletion the CD4 locus on chromosome 12 were analyzed in more than 1600 individuals sampled from 42 geographically dispersed populations (13 African, 2 Middle Eastern, 7 European, 9 Asian, 3 Pacific, 8 Amerindian). Sub-Saharan African had haplotypes exhibited variability frequencies Northeast or non-African populations. The was nearly always associated with single STRP allele but wide range sub-Saharan...
Engaging a century-long debate about the role of race in science
The gene Microcephalin ( MCPH1 ) regulates brain size and has evolved under strong positive selection in the human evolutionary lineage. We show that one genetic variant of modern humans, which arose ∼37,000 years ago, increased frequency too rapidly to be compatible with neutral drift. This indicates it spread selection, although exact nature is unknown. finding an important continued evolve adaptively anatomically humans suggests ongoing plasticity brain. It also makes attractive candidate...
The gene ASPM ( abnormal spindle-like microcephaly associated ) is a specific regulator of brain size, and its evolution in the lineage leading to Homo sapiens was driven by strong positive selection. Here, we show that one genetic variant humans arose merely about 5800 years ago has since swept high frequency under These findings, especially remarkably young age positively selected variant, suggest human still undergoing rapid adaptive evolution.
Quantifying patterns of population structure in Africans and African Americans illuminates the history human populations is critical for undertaking medical genomic studies on a global scale. To obtain fine-scale genome-wide perspective ancestry, we analyze Affymetrix GeneChip 500K genotype data from ( n = 365) individuals with ancestry West Africa 203 12 populations) Europe 400 42 countries). We find that within sample reflects primarily language secondarily geographical distance, echoing...
It is commonly thought that human genetic diversity in non-African populations was shaped primarily by an out-of-Africa dispersal 50–100 thousand yr ago (kya). Here, we present a study of 456 geographically diverse high-coverage Y chromosome sequences, including 299 newly reported samples. Applying ancient DNA calibration, date the Y-chromosomal most recent common ancestor (MRCA) Africa at 254 (95% CI 192–307) kya and detect cluster major founder haplogroups narrow time interval 47–52 kya,...
Genomic analysis of high-altitude populations residing in the Andes and Tibet has revealed several candidate loci for involvement adaptation, a subset which have also been shown to be associated with hemoglobin levels, including EPAS1, EGLN1, PPARA, play role HIF-1 pathway. Here, we extended this work high- low-altitude living Ethiopia, measured levels. We genotyped Illumina 1M SNP array employed genome-wide scans selection targeted association levels identify genes that adaptation high...
Duplications and deletions in the human genome can lead to variation copy number for genes genomic loci among humans. Such variants reveal evolutionary patterns have implications health. Sudmant et al. examined copy-number across 236 individual genomes from 125 populations. Deletions were under more selection, whereas duplications showed population-specific structure. Interestingly, Oceanic populations retain large postulated originated an ancient Denisovan lineage. Science , this issue...
Southern and eastern African populations that speak non-Bantu languages with click consonants are known to harbour some of the most ancient genetic lineages in humans, but their relationships poorly understood. Here, we report data from 23 analysed at over half a million single-nucleotide polymorphisms, using genome-wide array designed for studying human history. The southern Khoisan fall into two groups, loosely corresponding northwestern southeastern Kalahari, which show separated within...
African genomics and skin color Skin varies among human populations is thought to be under selection, with light maximizing vitamin D production at higher latitudes dark providing UV protection in equatorial zones. To identify the genes that give rise palette of tones, Crawford et al. applied genome-wide analyses across diverse (see Perspective by Tang Barsh). Genetic variants were identified likely function phenotypes. Comparison model organisms verified a conserved MFSD12 pigmentation. A...