The influence of evolutionary history on human health and disease

Benton, Mary Lauren; Abraham, Abin; LaBella, Abigail L.; Abbot, Patrick; Rokas, Antonis; Capra, John A.

doi:10.1038/s41576-020-00305-9

Cited by 172 publications

(194 citation statements)

References 214 publications

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“…Reconstructing the developmental and evolutionary history of anatomical systems is essential for a causally complete explanation for the origins and progression of disease, which has led to the synthesis of evolution and medicine ("evolutionary medicine") (Benton et al, 2021).…”

Section: Discussionmentioning

confidence: 99%

Evolutionary transcriptomics implicates new genes and pathways in human pregnancy and adverse pregnancy outcomes

Mika

Marinić

Singh

et al. 2021

Preprint

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Evolutionary changes in the anatomy and physiology of the female reproductive system underlie the origins and diversification of pregnancy in Eutherian (Placental) mammals. This developmental and evolutionary history constrains normal physiological functions and biases the ways in which dysfunction contributes to reproductive trait diseases and adverse pregnancy outcomes. Here, we show that gene expression changes in the human endometrium during pregnancy are associated with the evolution of human-specific traits and pathologies of pregnancy. We found that hundreds of genes gained or lost endometrial expression in the human lineage. Among these are genes that may contribute to human-specific maternal-fetal communication (HTR2B) and maternal-fetal immunotolerance (PDCD1LG2) systems, as well as vascular remodeling and deep placental invasion (CORIN). These data suggest that explicit evolutionary studies of anatomical systems complement traditional methods for characterizing the genetic architecture of disease. We also anticipate our results will advance the emerging synthesis of evolution and medicine (evolutionary medicine) and be a starting point for more sophisticated studies of the maternal-fetal interface. Furthermore, the gene expression changes we identified may contribute to the development of diagnostics and interventions for adverse pregnancy outcomes.

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Section: Discussionmentioning

confidence: 99%

Evolutionary transcriptomics implicates new genes and pathways in human pregnancy and adverse pregnancy outcomes

Mika

Marinić

Singh

et al. 2021

Preprint

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“…A wealth of recent research has shown that evolution can be surprisingly repeatable when selection is strong even among distantly related lineages or in different environments (Lieberman et al 2011;Lassig et al 2017;Turner et al 2018), but disparate outcomes become more likely as the footprint of history (i.e. differences in genetic background caused by chance and selection in different environments) increases (Blount et al 2018;Benton et al 2021;Mahrt et al 2021) (For definitions of the forces and their role in the evolution of antibiotic resistance, see Box 1). In the absence of chance and history, selection will cause the most fit genotype to fix in the particular environment, and provided this variant is available, evolution will be perfectly predictable (Bailey et al 2015;Lassig et al 2017).…”

Section: Main Textmentioning

confidence: 99%

The roles of history, chance, and natural selection in the evolution of antibiotic resistance

Santos-López

Marshall

Haas

et al. 2021

eLife

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History, chance, and selection are the fundamental factors that drive and constrain evolution. We designed evolution experiments to disentangle and quantify effects of these forces on the evolution of antibiotic resistance. Previously we showed that selection of the pathogen Acinetobacter baumannii in both structured and unstructured environments containing the antibiotic ciprofloxacin produced distinct genotypes and phenotypes, with lower resistance in biofilms as well as collateral sensitivity to b-lactam drugs (Santos-Lopez et al. 2019). Here we study how this prior history influences subsequent evolution in new b-lactam antibiotics. Selection was imposed by increasing concentrations of ceftazidime and imipenem and chance differences arose as random mutations among replicate populations. The effects of history were reduced by increasingly strong selection in new drugs, but not erased, at times revealing important contingencies. A history of selection in structured environments constrained resistance to new drugs and led to frequent loss of resistance to the initial drug by genetic reversions and not compensatory mutations. This research demonstrates that despite strong selective pressures of antibiotics leading to genetic parallelism, history can etch potential vulnerabilities to orthogonal drugs.

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“…In this equation, t f is the end timepoint, t 0 is the initial time point, here the time to most recent common ancestor, t b ,0 is the initial time point before rescaling and μ r is the temporal mean of the mutation rate profile divided by the mutation rate at the end timepoint. The mutation rate profile was taken as the slope of dM/d(1/f), in agreement with equation (6). For the first time point, the temporal mean could be calculated immediately, using the full profile, but for intermediate coalescent timepoints t i , the time interval where the temporal mean should be calculated was not known beforehand.…”

Section: Mutation Rate Of Procambarus Virginalis Mutation Accumulation Between Animalsmentioning

confidence: 99%

Time-resolved, integrated analysis of clonally evolving genomes

Legrand

Andriantsoa

Lichter

et al. 2021

Preprint

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Clonal genome evolution is a key aspect for parthenogenetic species and cancer. While many studies describe precise landscapes of clonal evolution in cancer, few studies determine the underlying evolutionary parameters from molecular data, and fewer integrate theory with data. We derived theoretical results linking mutation rate, time, expansion dynamics, transition to recurrence, and survival. With this, we inferred time-resolved estimates of evolutionary parameters from mutation accumulation, mutational signatures and selection. Using this framework we traced the speciation of the rapidly emerging and invasive marbled crayfish to a time window between 1947 and 1996, which is consistent with biological records. In glioblastoma samples, we determined tumor expansion patterns, and tumor cell survival ratio at resection. Interestingly, our results suggest that the expansion pattern in the primary tumor is predictive of the progress and time to recurrence. In addition, tumor cell survival was always higher after resection and was associated with the expansion pattern and time to recurrence. We further observed selection events in a subset of tumors, with longer and purifying-only selection phases in recurrent tumors. In conclusion, our framework allowed a time-resolved, integrated analysis of key parameters in clonally evolving genomes, and provided novel insights into the evolutionary age of marbled crayfish and the progression of glioblastoma.

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The influence of evolutionary history on human health and disease

Cited by 172 publications

References 214 publications

Evolutionary transcriptomics implicates new genes and pathways in human pregnancy and adverse pregnancy outcomes

Evolutionary transcriptomics implicates new genes and pathways in human pregnancy and adverse pregnancy outcomes

The roles of history, chance, and natural selection in the evolution of antibiotic resistance

Time-resolved, integrated analysis of clonally evolving genomes

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