The origin and evolution of maize in the American Southwest

The origin and evolution of maize in the American Southwest

Rute R da Fonseca, Bruce D Smith, Nathan Wales, Enrico Cappellini, Pontus Skoglund, Matteo Fumagalli, José Alfredo Samaniego, Christian Carøe, María C Ávila-Arcos, David E Hufnagel, Thorfinn Sand Korneliussen, Filipe Garrett Vieira, Mattias Jakobsson, Bernardo Arriaza, Eske Willerslev, Rasmus Nielsen, Matthew B Hufford, Anders Albrechtsen, Jeffrey Ross-Ibarra, M Thomas P Gilbert
doi: http://dx.doi.org/10.1101/013540

Maize offers an ideal system through which to demonstrate the potential of ancient population genomic techniques for reconstructing the evolution and spread of domesticates. The diffusion of maize from Mexico into the North American Southwest (SW) remains contentious with the available evidence being restricted to morphological studies of ancient maize plant material. We captured 1 Mb of nuclear DNA from 32 archaeological maize samples spanning 6000 years and compared them with modern landraces including those from the Mexican West coast and highlands. We found that the initial diffusion of domesticated maize into the SW is likely to have occurred through a highland route. However, by 2000 years ago a Pacific coastal corridor was also being used. Furthermore, we could distinguish between genes that were selected for early during domestication (such as zagl1 involved in shattering) from genes that changed in the SW context (e.g. related to sugar content and adaptation to drought) likely as a response to the local arid environment and new cultural uses of maize.

Response of polygenic traits under stabilising selection and mutation when loci have unequal effects

Response of polygenic traits under stabilising selection and mutation when loci have unequal effects

Kavita Jain, Wolfgang Stephan
(Submitted on 9 Jan 2015)

We consider an infinitely large population under stabilising selection and mutation in which the allelic effects determining a polygenic trait vary between loci. We obtain analytical expressions for the stationary genetic variance as a function of the distribution of effects, mutation rate and selection coefficient. We also study the dynamics of the allele frequencies, focussing on short-term evolution of the phenotypic mean as it approaches the optimum after an environmental change. We find that when most effects are small, the genetic variance does not change appreciably during adaptation, and the time until the phenotypic mean reaches the optimum is short if the number of loci is large. However, when most effects are large, the change of the variance during the adaptive process cannot be neglected. In this case, the short-term dynamics may be described by that of a single locus of large effect. Our results may be used to understand polygenic selection driving rapid adaptation.

A pooling-based approach to mapping genetic variants associated with DNA methylation

A pooling-based approach to mapping genetic variants associated with DNA methylation

Irene Miriam Kaplow, Julia L MacIsaac, Sarah M Mah, Lisa M McEwen, Michael S Kobor, Hunter B Fraser
doi: http://dx.doi.org/10.1101/013649

DNA methylation is an epigenetic modification that plays a key role in gene regulation. Previous studies have investigated its genetic basis by mapping genetic variants that are associated with DNA methylation at specific sites, but these have been limited to microarrays that cover less than 2% of the genome and cannot account for allele-specific methylation (ASM). Other studies have performed whole-genome bisulfite sequencing on a few individuals, but these lack statistical power to identify variants associated with DNA methylation. We present a novel approach in which bisulfite-treated DNA from many individuals is sequenced together in a single pool, resulting in a truly genome-wide map of DNA methylation. Compared to methods that do not account for ASM, our approach increases statistical power to detect associations while sharply reducing cost, effort, and experimental variability. As a proof of concept, we generated deep sequencing data from a pool of 60 human cell lines; we evaluated almost twice as many CpGs as the largest microarray studies and identified over 2,000 genetic variants associated with DNA methylation. We found that these variants are highly enriched for associations with chromatin accessibility and CTCF binding but are less likely to be associated with traits indirectly linked to DNA, such as gene expression and disease phenotypes. In summary, our approach allows genome-wide mapping of genetic variants associated with DNA methylation in any tissue of any species, without the need for individual-level genotype or methylation data.

SWS2 visual pigment evolution as a test of historically contingent patterns of plumage color evolution in Warblers

SWS2 visual pigment evolution as a test of historically contingent patterns of plumage color evolution in Warblers

Natasha Bloch, James M Morrow, Belinda SW Chang, Trevor D Price
doi: http://dx.doi.org/10.1101/013573

Distantly related clades that occupy similar environments may differ due to the lasting imprint of their ancestors – historical contingency. The New World warblers (Parulidae) and Old World warblers (Phylloscopidae) are ecologically similar clades that differ strikingly in plumage coloration. We studied genetic and functional evolution of the short-wavelength sensitive visual pigments (SWS2 and SWS1) to ask if altered color perception could contribute to the plumage color differences between clades. We show SWS2 is short-wavelength shifted in birds that occupy open environments, such as finches, compared to those in closed environments, including warblers. Sequencing of opsin genes and phylogenetic reconstructions indicate New World warblers were derived from a finch-like form that colonized from the Old World 15-20Ma. During this process the SWS2 gene accumulated 6 substitutions in branches leading to New World warblers, inviting the hypothesis that passage through a finch-like ancestor resulted in SWS2 evolution. In fact, we show spectral tuning remained similar across warblers as well as the finch ancestor. Results reject the hypothesis of historical contingency based on opsin spectral tuning, but point to evolution of other aspects of visual pigment function. Using the approach outlined here, historical contingency becomes a generally testable theory in systems where genotype and phenotype can be connected.

Independent molecular basis of convergent highland adaptation in maize

Independent molecular basis of convergent highland adaptation in maize

Shohei Takuno, Peter Ralph, Kelly Swarts, Rob J Elshire, Jeffrey C Glaubitz, Edward S. Buckler, Matthew B Hufford, Jeff Ross-Ibarra
doi: http://dx.doi.org/10.1101/013607

Convergent evolution occurs when multiple species/subpopulations adapt to similar environments via similar phenotypes. We investigate here the molecular basis of convergent adaptation in maize to highland climates in Mexico and South America using genome-wide SNP data. Taking advantage of archaeological data on the arrival of maize to the highlands, we infer demographic models for both populations, identifying evidence of a strong bottleneck and rapid expansion in South America. We use these models to then identify loci showing an excess of differentiation as a means of identifying putative targets of natural selection, and compare our results to expectations from recently developed theory on convergent adaptation. Consistent with predictions across a wide array of parameter space, we see limited evidence for convergent evolution at the nucleotide level in spite of strong similarities in overall phenotypes. Instead, we show that selection appears to have predominantly acted on standing genetic variation, and that introgression from wild teosinte populations appears to have played a role in highland adaptation in Mexican maize.

Sifting through 2014 on Haldane’s Sieve

2014 was the second full year of Haldane’s Sieve, which we started in 2012 to bring attention to preprints in population and evolutionary genetics. This year we had over 100,000 visitors from across the globe; the most viewed posts were:

High-resolution genomic surveillance of 2014 ebolavirus using shared subclonal variants

High-resolution genomic surveillance of 2014 ebolavirus using shared subclonal variants

Kevin J Emmett, Albert K Lee, Hossein Khiabanian, Raul Rabadan
doi: http://dx.doi.org/10.1101/013318

Viral outbreaks, such as the 2014 ebolavirus, can spread rapidly and have complex evolutionary dynamics, including coinfection and bulk transmission of multiple viral populations. Genomic surveillance can be hindered when the spread of the outbreak exceeds the evolutionary rate, in which case consensus approaches will have limited resolution. Deep sequencing of infected patients can identify genomic variants present in intrahost populations at subclonal frequencies (i.e. <50%). Shared subclonal variants (SSVs) can provide additional phylogenetic resolution and inform about disease transmission patterns. Here, we use metrics from population genetics to analyze data from the 2014 ebolavirus outbreak in Sierra Leone and identify phylogenetic signal arising from SSVs. We use methods derived from information theory to measure a lower bound on transmission bottleneck size that is larger than one founder population, yet significantly smaller than the intrahost effective population. Our results demonstrate the important role of shared subclonal variants in genomic surveillance.

Reconstructing gene content in the last common ancestor of cellular life: is it possible, should it be done, and are we making any progress?

Reconstructing gene content in the last common ancestor of cellular life: is it possible, should it be done, and are we making any progress?

Arcady Mushegian
doi: http://dx.doi.org/10.1101/013326

I review recent literature on the reconstruction of gene repertoire of the Last Universal Common Ancestor of cellular life (LUCA). The form of the phylogenetic record of cellular life on Earth is important to know in order to reconstruct any ancestral state; therefore I also discuss the emerging understanding that this record does not take the form of a tree. I argue that despite this, “tree-thinking” remains an essential component in evolutionary thinking and that “pattern pluralism” in evolutionary biology can be only epistemological, but not ontological.

The evolutionarily stable distribution of fitness effects

The evolutionarily stable distribution of fitness effects

Daniel P. Rice, Benjamin H. Good, Michael M. Desai
doi: http://dx.doi.org/10.1101/013052

The distribution of fitness effects of new mutations (the DFE) is a key parameter in determining the course of evolution. This fact has motivated extensive efforts to measure the DFE or to predict it from first principles. However, just as the DFE determines the course of evolution, the evolutionary process itself constrains the DFE. Here, we analyze a simple model of genome evolution in a constant environment in which natural selection drives the population toward a dynamic steady state where beneficial and deleterious substitutions balance. The distribution of fitness effects at this steady state is stable under further evolution, and provides a natural null expectation for the DFE in a population that has evolved in a constant environment for a long time. We calculate how the shape of the evolutionarily stable DFE depends on the underlying population genetic parameters. We show that, in the absence of epistasis, the ratio of beneficial to deleterious mutations of a given fitness effect obeys a simple relationship independent of population genetic details. Finally, we analyze how the stable DFE changes in the presence of a simple form of diminishing returns epistasis.

DNA-guided establishment of canonical nucleosome patterns in a eukaryotic genome

DNA-guided establishment of canonical nucleosome patterns in a eukaryotic genome

Leslie Y Beh, Noam Kaplan, Manuel M Muller, Tom W Muir, Laura F Landweber
doi: http://dx.doi.org/10.1101/013250

A conserved hallmark of eukaryotic chromatin architecture is the distinctive array of well-positioned nucleosomes downstream of transcription start sites (TSS). Recent studies indicate that trans-acting factors establish this stereotypical array. Here, we present the first genome-wide in vitro and in vivo nucleosome maps for the ciliate Tetrahymena thermophila. In contrast with previous studies in yeast, we find that the stereotypical nucleosome array is preserved in the in vitro reconstituted map, which is governed only by the DNA sequence preferences of nucleosomes. Remarkably, this average in vitro pattern arises from the presence of subsets of nucleosomes, rather than the whole array, in individual Tetrahymena genes. Variation in GC content contributes to the positioning of these sequence-directed nucleosomes, and affects codon usage and amino acid composition in genes. We propose that these ‘seed’ nucleosomes may aid the AT-rich Tetrahymena genome – which is intrinsically unfavorable for nucleosome formation – in establishing nucleosome arrays in vivo in concert with trans-acting factors, while minimizing changes to the coding sequences they are embedded within.