Reduced within-population quantitative genetic variation is associated with climate harshness in maritime pine.

How evolutionary forces interact to maintain genetic variation within populations has been a matter of extensive theoretical debates. While mutation and exogenous gene flow increase genetic variation, stabilizing selection and genetic drift are expected to deplete it. To date, levels of genetic variation observed in natural populations are hard to predict without accounting for other processes, such as balancing selection in heterogeneous environments. We aimed to empirically test three hypotheses: (i) admixed populations have higher quantitative genetic variation due to introgression from other gene pools, (ii) quantitative genetic variation is lower in populations from harsher environments (i.e., experiencing stronger selection), and (iii) quantitative genetic variation is higher in populations from heterogeneous environments. Using growth, phenological and functional trait data from three clonal common gardens and 33 populations (522 clones) of maritime pine (Pinus pinaster Aiton), we estimated the association between the population-specific total genetic variances (i.e., among-clone variances) for these traits and ten population-specific indices related to admixture levels (estimated based on 5165 SNPs), environmental temporal and spatial heterogeneity and climate harshness. Populations experiencing colder winters showed consistently lower genetic variation for early height growth (a fitness-related trait in forest trees) in the three common gardens. Within-population quantitative genetic variation was not associated with environmental heterogeneity or population admixture for any trait. Our results provide empirical support for the potential role of natural selection in reducing genetic variation for early height growth within populations, which indirectly gives insight into the adaptive potential of populations to changing environments.

Forest tree species adaptation to climate across biomes: Building on the legacy of ecological genetics to anticipate responses to climate change.

Intraspecific variation plays a critical role in extant and future forest responses to climate change. Forest tree species with wide climatic niches rely on the intraspecific variation resulting from genetic adaptation and phenotypic plasticity to accommodate spatial and temporal climate variability. A centuries-old legacy of forest ecological genetics and provenance trials has provided a strong foundation upon which to continue building on this knowledge, which is critical to maintain climate-adapted forests. Our overall objective is to understand forest trees intraspecific responses to climate across species and biomes, while our specific objectives are to describe ecological genetics models used to build our foundational knowledge, summarize modeling approaches that have expanded the traditional toolset, and extensively review the literature from 1994 to 2021 to highlight the main contributions of this legacy and the new analyzes of provenance trials. We reviewed 103 studies comprising at least three common gardens, which covered 58 forest tree species, 28 of them with range-wide studies. Although studies using provenance trial data cover mostly commercially important forest tree species from temperate and boreal biomes, this synthesis provides a global overview of forest tree species adaptation to climate. We found that evidence for genetic adaptation to local climate is commonly present in the species studied (79%), being more common in conifers (87.5%) than in broadleaf species (67%). In 57% of the species, clines in fitness-related traits were associated with temperature variables, in 14% of the species with precipitation, and in 25% of the species with both. Evidence of adaptation lags was found in 50% of the species with range-wide studies. We conclude that ecological genetics models and analysis of provenance trial data provide excellent insights on intraspecific genetic variation, whereas the role and limits of phenotypic plasticity, which will likely determine the fate of extant forests, is vastly understudied.

Combining Climatic and Genomic Data Improves Range-Wide Tree Height Growth Prediction in a Forest Tree.

AbstractPopulation response functions based on climatic and phenotypic data from common gardens have long been the gold standard for predicting quantitative trait variation in new environments. However, prediction accuracy might be enhanced by incorporating genomic information that captures the neutral and adaptive processes behind intrapopulation genetic variation. We used five clonal common gardens containing 34 provenances (523 genotypes) of maritime pine (Pinus pinaster Aiton) to determine whether models combining climatic and genomic data capture the underlying drivers of height growth variation and thus improve predictions at large geographical scales. The plastic component explained most of the height growth variation, probably resulting from population responses to multiple environmental factors. The genetic component stemmed mainly from climate adaptation and the distinct demographic and selective histories of the different maritime pine gene pools. Models combining climate of origin and gene pool of the provenances as well as height-associated positive-effect alleles (PEAs) captured most of the genetic component of height growth and better predicted new provenances compared with the climate-based population response functions. Regionally selected PEAs were better predictors than globally selected PEAs, showing high predictive ability in some environments even when included alone in the models. These results are therefore promising for the future use of genome-based prediction of quantitative traits.

Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome.

BACKGROUND & AIMS: Colonoscopy reduces colorectal cancer (CRC) incidence and mortality in Lynch syndrome (LS) carriers. However, a high incidence of postcolonoscopy CRC (PCCRC) has been reported. Colonoscopy is highly dependent on endoscopist skill and is subject to quality variability. We aimed to evaluate the impact of key colonoscopy quality indicators on adenoma detection and prevention of PCCRC in LS. METHODS: We conducted a multicenter study focused on LS carriers without previous CRC undergoing colonoscopy surveillance (n = 893). Incident colorectal neoplasia during surveillance and quality indicators of all colonoscopies were analyzed. We performed an emulated target trial comparing the results from the first and second surveillance colonoscopies to assess the effect of colonoscopy quality indicators on adenoma detection and PCCRC incidence. Risk analyses were conducted using a multivariable logistic regression model. RESULTS: The 10-year cumulative incidence of adenoma and PCCRC was 60.6% (95% CI, 55.5%-65.2%) and 7.9% (95% CI, 5.2%-10.6%), respectively. Adequate bowel preparation (odds ratio [OR], 2.07; 95% CI, 1.06-4.3), complete colonoscopies (20% vs 0%; P = .01), and pan-chromoendoscopy use (OR, 2.14; 95% CI, 1.15-3.95) were associated with significant improvement in adenoma detection. PCCRC risk was significantly lower when colonoscopies were performed during a time interval of less than every 3 years (OR, 0.35; 95% CI, 0.14-0.97). We observed a consistent but not significant reduction in PCCRC risk for a previous complete examination (OR, 0.16; 95% CI, 0.03-1.28), adequate bowel preparation (OR, 0.64; 95% CI, 0.17-3.24), or previous use of high-definition colonoscopy (OR, 0.37; 95% CI, 0.02-2.33). CONCLUSIONS: Complete colonoscopies with adequate bowel preparation and chromoendoscopy use are associated with improved adenoma detection, while surveillance intervals of less than 3 years are associated with a reduction of PCCRC incidence. In LS, high-quality colonoscopy surveillance is of utmost importance for CRC prevention.

The legacy of climate variability over the last century on populations' phenotypic variation in tree height.

Phenotypic plasticity and local adaptation are the two main processes underlying trait variability. Under rapid environmental change, phenotypic plasticity, if adaptive, could increase the odds for organisms to persist. However, little is known on how environmental variation has shaped plasticity across species ranges over time. Here, we assess whether the portion of phenotypic variation of tree populations linked to the environment is related to the inter-annual climate variability of the last century and how it varies among populations across species ranges and age. To this aim, we used 372,647 individual tree height measurements of three pine species found in low elevation forests in Europe: Pinus nigra Arnold, P. pinaster Aiton and P. pinea L. Measurements were taken in a network of 38 common gardens established in Europe and North Africa with 315 populations covering the distribution range of the species. We fitted linear mixed-effect models of tree height as a function of age, population, climate and competition effects. Models allowed us to estimate tree height response curves at the population level and indexes of populations' phenotypic variation, as a proxy of phenotypic plasticity, at 4, 8 and 16 years old, and relate these indexes to the inter-annual climate variability of the last century. We found that phenotypic variation in tree height was higher in young trees than in older ones. We also found that P. pinea showed the highest phenotypic variation in tree height compared with P. pinaster and P. nigra. Finally, phenotypic variation in tree height may be partly adaptive, and differently across species, as climate variability during the last century at the origin of the populations explained between 51 and 69% of the current phenotypic variation of P. nigra and P. pinea, almost twice of the levels of P. pinaster. MAIN CONCLUSIONS: Populations' phenotypic variation in tree height is largely explained by the climate variability that the populations experienced during the last century, which we attribute to the genetic diversity among populations.

Clinical and Pathological Characterization of Lynch-Like Syndrome.

BACKGROUND & AIMS: Lynch syndrome is characterized by DNA mismatch repair (MMR) deficiency. Some patients with suspected Lynch syndrome have DNA MMR deficiencies but no detectable mutations in genes that encode MMR proteins-this is called Lynch-like syndrome (LLS). There is no consensus on management of patients with LLS. We collected data from a large series of patients with LLS to identify clinical and pathology features. METHODS: We collected data from a nationwide-registry of patients with colorectal cancer (CRC) in Spain. We identified patients whose colorectal tumors had loss of MSH2, MSH6, PMS2, or MLH1 (based on immunohistochemistry), without the mutation encoding V600E in BRAF (detected by real-time PCR), and/or no methylation at MLH1 (determined by methylation-specific multiplex ligation-dependent probe amplification), and no pathogenic mutations in MMR genes, BRAF, or EPCAM (determined by DNA sequencing). These patients were considered to have LLS. We collected data on demographic, clinical, and pathology features and family history of neoplasms. The χ2 test was used to analyze the association between qualitative variables, followed by the Fisher exact test and the Student t test or the Mann-Whitney test for quantitative variables. RESULTS: We identified 160 patients with LLS; their mean age at diagnosis of CRC was 55 years and 66 patients were female (41%). The Amsterdam I and II criteria for Lynch syndrome were fulfilled by 11% of cases and the revised Bethesda guideline criteria by 65% of cases. Of the patients with LLS, 24% were identified in universal screening. There were no proportional differences in sex, indication for colonoscopy, immunohistochemistry, pathology findings, or personal history of CRC or other Lynch syndrome-related tumors between patients who met the Amsterdam and/or Bethesda criteria for Lynch syndrome and patients identified in universal screening for Lynch syndrome, without a family history of CRC. CONCLUSIONS: Patients with LLS have homogeneous clinical, demographic, and pathology characteristics, regardless of family history of CRC.

Range margin populations show high climate adaptation lags in European trees.

How populations of long-living species respond to climate change depends on phenotypic plasticity and local adaptation processes. Marginal populations are expected to have lags in adaptation (i.e. differences between the climatic optimum that maximizes population fitness and the local climate) because they receive pre-adapted alleles from core populations preventing them from reaching a local optimum in their climatically marginal habitat. Yet, whether adaptation lags in marginal populations are a common feature across phylogenetically and ecologically different species and how lags can change with climate change remain unexplored. To test for range-wide patterns of phenotypic variation and adaptation lags of populations to climate, we (a) built model ensembles of tree height accounting for the climate of population origin and the climate of the site for 706 populations monitored in 97 common garden experiments covering the range of six European forest tree species; (b) estimated populations' adaptation lags as the differences between the climatic optimum that maximizes tree height and the climate of the origin of each population; (c) identified adaptation lag patterns for populations coming from the warm/dry and cold/wet margins and from the distribution core of each species range. We found that (a) phenotypic variation is driven by either temperature or precipitation; (b) adaptation lags are consistently higher in climatic margin populations (cold/warm, dry/wet) than in core populations; (c) predictions for future warmer climates suggest adaptation lags would decrease in cold margin populations, slightly increasing tree height, while adaptation lags would increase in core and warm margin populations, sharply decreasing tree height. Our results suggest that warm margin populations are the most vulnerable to climate change, but understanding how these populations can cope with future climates depend on whether other fitness-related traits could show similar adaptation lag patterns.

ΔTraitSDMs: species distribution models that account for local adaptation and phenotypic plasticity.

Improving our understanding of species ranges under rapid climate change requires application of our knowledge of the tolerance and adaptive capacity of populations to changing environmental conditions. Here, we describe an emerging modelling approach, ΔTraitSDM, which attempts to achieve this by explaining species distribution ranges based on phenotypic plasticity and local adaptation of fitness-related traits measured across large geographical gradients. The collection of intraspecific trait data measured in common gardens spanning broad environmental clines has promoted the development of these new models - first in trees but now rapidly expanding to other organisms. We review, explain and harmonize the main findings from this new generation of models that, by including trait variation over geographical scales, are able to provide new insights into future species ranges. Overall, ΔTraitSDM predictions generally deliver a less alarming message than previous models of species distribution under new climates, indicating that phenotypic plasticity should help, to a considerable degree, some plant populations to persist under climate change. The development of ΔTraitSDMs offers a new perspective to analyse intraspecific variation in single and multiple traits, with the rationale that trait (co)variation and consequently fitness can significantly change across geographical gradients and new climates.

Phenotypic trait variation measured on European genetic trials of Fagus sylvatica L.

We present BeechCOSTe52; a database of European beech (Fagus sylvatica) phenotypic measurements for several traits related to fitness measured in genetic trials planted across Europe. The dataset was compiled and harmonized during the COST-Action E52 (2006-2010), and subsequently cross-validated to ensure consistency of measurement data among trials and provenances. Phenotypic traits (height, diameter at breast height, basal diameter, mortality, phenology of spring bud burst and autumn-leaf discoloration) were recorded in 38 trial sites where 217 provenances covering the entire distribution of European beech were established in two consecutive series (1993/95 and 1996/98). The recorded data refer to 862,095 measurements of the same trees aged from 2 to 15 years old over multiple years. This dataset captures the considerable genetic and phenotypic intra-specific variation present in European beech and should be of interest to researchers from several disciplines including quantitative genetics, ecology, biogeography, macroecology, adaptive management of forests and bioeconomy.

American trees shift their niches when invading Western Europe: evaluating invasion risks in a changing climate.

Four North American trees are becoming invasive species in Western Europe: Acer negundo, Prunus serotina, Quercus rubra, and Robinia pseudoacacia. However, their present and future potential risks of invasion have not been yet evaluated. Here, we assess niche shifts between the native and invasive ranges and the potential invasion risk of these four trees in Western Europe. We estimated niche conservatism in a multidimensional climate space using niche overlap Schoener's D, niche equivalence, and niche similarity tests. Niche unfilling and expansion were also estimated in analogous and nonanalogous climates. The capacity for predicting the opposite range between the native and invasive areas (transferability) was estimated by calibrating species distribution models (SDMs) on each range separately. Invasion risk was estimated using SDMs calibrated on both ranges and projected for 2050 climatic conditions. Our results showed that native and invasive niches were not equivalent with low niche overlap for all species. However, significant similarity was found between the invasive and native ranges of Q. rubra and R. pseudoacacia. Niche expansion was lower than 15% for all species, whereas unfilling ranged from 7 to 56% when it was measured using the entire climatic space and between 5 and 38% when it was measured using analogous climate only. Transferability was low for all species. SDMs calibrated over both ranges projected high habitat suitability in Western Europe under current and future climates. Thus, the North American and Western European ranges are not interchangeable irrespective of the studied species, suggesting that other environmental and/or biological characteristics are shaping their invasive niches. The current climatic risk of invasion is especially high for R. pseudoacacia and A. negundo. In the future, the highest risks of invasion for all species are located in Central and Northern Europe, whereas the risk is likely to decrease in the Mediterranean basin.

The effects of phenotypic plasticity and local adaptation on forecasts of species range shifts under climate change.

Species are the unit of analysis in many global change and conservation biology studies; however, species are not uniform entities but are composed of different, sometimes locally adapted, populations differing in plasticity. We examined how intraspecific variation in thermal niches and phenotypic plasticity will affect species distributions in a warming climate. We first developed a conceptual model linking plasticity and niche breadth, providing five alternative intraspecific scenarios that are consistent with existing literature. Secondly, we used ecological niche-modeling techniques to quantify the impact of each intraspecific scenario on the distribution of a virtual species across a geographically realistic setting. Finally, we performed an analogous modeling exercise using real data on the climatic niches of different tree provenances. We show that when population differentiation is accounted for and dispersal is restricted, forecasts of species range shifts under climate change are even more pessimistic than those using the conventional assumption of homogeneously high plasticity across a species' range. Suitable population-level data are not available for most species so identifying general patterns of population differentiation could fill this gap. However, the literature review revealed contrasting patterns among species, urging greater levels of integration among empirical, modeling and theoretical research on intraspecific phenotypic variation.