A5025104124- Genetic diversity and population structure
- Genetic Associations and Epidemiology
- Forensic and Genetic Research
- Evolution and Genetic Dynamics
- Pharmacogenetics and Drug Metabolism
- High Altitude and Hypoxia
- Hemoglobinopathies and Related Disorders
- Genetic and phenotypic traits in livestock
- Genetic Mapping and Diversity in Plants and Animals
- Nutrition, Genetics, and Disease
- DNA Repair Mechanisms
- RNA Interference and Gene Delivery
- Forensic Anthropology and Bioarchaeology Studies
- Genomics and Phylogenetic Studies
- Cancer therapeutics and mechanisms
- Neonatal Health and Biochemistry
- Epigenetics and DNA Methylation
- Cancer Treatment and Pharmacology
- Advanced biosensing and bioanalysis techniques
- Estrogen and related hormone effects
- Drug Transport and Resistance Mechanisms
- Vitamin D Research Studies
- Iron Metabolism and Disorders
- Inflammatory Bowel Disease
- Chemotherapy-induced cardiotoxicity and mitigation
University of Chicago
2013-2025
Institute for Experimental Endocrinology and Oncology
2012-2022
National Research Council
2022
Istituto Nazionale Tumori IRCCS "Fondazione G. Pascale"
2016-2017
Clinica Mediterranea
2017
SDN Istituto di Ricerca Diagnostica e Nucleare
2017
Istituti di Ricovero e Cura a Carattere Scientifico
2017
PharmacoGenetics (China)
2014
Azienda Ospedaliero Universitaria Ospedali Riuniti
2014
Institut de Génétique Humaine
2012
Mutational processes of simple sequence repeats (SSRs) in complex genomes are poorly understood. We examined these by introducing a two-phase mutation model. In this model, most mutations single-step changes, but infrequent large jumps repeat number also occur. used computer simulations to determine expected values statistics that reflect frequency distributions allele size for the model and two alternatives, one-step geometric models. The theoretical expectations each were tested comparison...
Loci involved in local adaptation can potentially be identified by an unusual correlation between allele frequencies and important ecological variables or extreme frequency differences geographic regions. However, such comparisons are complicated sample sizes the neutral of across populations due to shared history gene flow. To overcome these difficulties, we have developed a Bayesian method that estimates empirical pattern covariance from set markers then uses this as null model for test at...
Eighty-eight types of mitochondrial (mt) DNA were found by sequencing the most variable part control region from 117 Caucasians. In tree relating those types, branching events occur about two-thirds way root to tips branches. Moreover, distribution sequence differences between all possible pairs individuals is approximately Poisson. Other non-African populations show a similar pattern. Assuming neutral model, these findings imply that probability survival new lineages has undergone dramatic...
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...
Humans inhabit a remarkably diverse range of environments, and adaptation through natural selection has likely played central role in the capacity to survive thrive extreme climates. Unlike numerous studies that used only population genetic data search for evidence selection, here we scan human genome signals by identifying SNPs with strongest correlations between allele frequencies climate across 61 worldwide populations. We find striking enrichment genic nonsynonymous relative non-genic...
Cancer-associated fibroblasts (CAFs) are the major components of tumor microenvironment. They may drive progression, although mechanisms involved still poorly understood. Exosomes have emerged as important mediators intercellular communication in cancer. mediate horizontal transfer microRNAs (miRs), mRNAs and proteins, thus affecting breast cancer progression. Differential expression profile analysis identified three miRs (miRs -21, -378e, -143) increased exosomes from CAFs compared normal...
Human populations use a variety of subsistence strategies to exploit an exceptionally broad range ecoregions and dietary components. These aspects human environments have changed dramatically during evolution, giving rise new selective pressures. To understand the genetic basis adaptations, we combine population genetics data with ecological information detect variants that increased in frequency response Our approach detects SNPs show concordant differences allele frequencies across respect...
There is a scientific and ethical imperative to embrace multidimensional, continuous view of ancestry move away from continental categories
Background Hepatic uridine diphosphate glucuronosyltransferase (UGT) isoform 1A1 (UGT1A1) is primarily responsible for the glucuronidation of SN-38 (7-ethyl-10-hydroxycamptothecin), active metabolite anticancer agent irinotecan. UGT1A1, also catalyzing bilirubin, has been shown to have reduced activity in Gilbert's syndrome. The presence an additional TA repeat [(TA)7 TAA] TATA sequence UGT1A1 associated with Objective To evaluate relationship between phenotypic and promoter polymorphism....
We present an expanded data set of 50 unlinked autosomal noncoding regions, resequenced in samples Hausa from Cameroon, Italians, and Chinese. use these to make inferences about human demographic history by using a technique that combines multiple aspects genetic data, including levels polymorphism, the allele frequency spectrum, linkage disequilibrium. explore extensive range parameters demonstrate our method combining results significant reduction compatible parameter space. In agreement...
Evolutionary pressures due to variation in climate play an important role shaping phenotypic among and within species have been shown influence phenotypes such as body shape size humans. Genes involved energy metabolism are likely be central heat cold tolerance. To test the hypothesis that shaped genes humans, we used a bioinformatics approach based on network theory select 82 candidate for common metabolic disorders. We genotyped 873 tag SNPs these 54 worldwide populations (including 52...
When mitochondrial DNA sequence variation is analyzed from a sample of 637 individuals in 14 European populations, most populations show little differentiation with respect to each other. However, the Saami distinguish themselves by comparatively large amount difference when compared other different distribution diversity within population, and occurrence particular motifs. Thus, seem have long history distinct populations. Linguistic affiliations are not reflected patterns relationships...