MitoFinder efficient automated large-scale extraction of mitogenomic data in target enrichment phylogenomics, bioRxiv, 2019-06-28

AbstractThanks to the development of high-throughput sequencing technologies, target enrichment sequencing of nuclear ultraconserved DNA elements (UCEs) now allows routinely inferring phylogenetic relationships from thousands of genomic markers. Recently, it has been shown that mitochondrial DNA (mtDNA) is frequently sequenced alongside the targeted loci in such capture experiments. Despite its broad evolutionary interest, mtDNA is rarely assembled and used in conjunction with nuclear markers in capture-based studies. Here, we developed MitoFinder, a user-friendly bioinformatic pipeline, to efficiently assemble and annotate mitogenomic data from hundreds of UCE libraries. As a case study, we used ants (Formicidae) for which 501 UCE libraries have been sequenced whereas only 29 mitogenomes are available. We compared the efficiency of four different assemblers (IDBA-UD, MEGAHIT, MetaSPAdes, and Trinity) for assembling both UCE and mtDNA loci. Using MitoFinder, we show that metagenomic assemblers, in particular MetaSPAdes, are well suited to assemble both UCEs and mtDNA. Mitogenomic signal was successfully extracted from all 501 UCE libraries allowing confirming species identification using COI barcoding. Moreover, our automated procedure retrieved 296 cases in which the mitochondrial genome was assembled in a single contig, thus increasing the number of available ant mitogenomes by an order of magnitude. By leveraging the power of metagenomic assemblers, MitoFinder provides an efficient tool to extract complementary mitogenomic data from UCE libraries, allowing testing for potential mito-nuclear discordance. Our approach is potentially applicable to other sequence capture methods, transcriptomic data, and whole genome shotgun sequencing in diverse taxa.

biorxiv evolutionary-biology 0-100-users 2019

High genetic diversity can contribute to extinction in small populations, bioRxiv, 2019-06-22

AbstractHuman-driven habitat fragmentation and loss has led to a proliferation of small and isolated plant and animal populations that may be threatened with extinction by genetic factors. The prevailing approach for managing these populations is to maintain high genetic diversity, which is often equated with fitness. Increasingly, this is being done using genetic rescue, where individuals from populations with high genetic diversity are translocated to small populations with high levels of inbreeding. However, the potentially negative consequences of this approach have recently been highlighted by the demise of the gray wolf population on Isle Royale, which only briefly recovered after genetic rescue by a migrant from the large mainland wolf population and then declined to the brink of extinction. Here, we use ecologically-motivated population genetic simulations to show that extinction risk in small populations is often increased by maximizing genetic diversity but is consistently decreased by minimizing deleterious variation. Surprisingly, we find that small populations that are founded or rescued by individuals from large populations with high genetic diversity have an elevated risk of extinction due to the high levels of recessive deleterious variation harbored by large populations. By contrast, we show that genetic rescue or founding from small or moderate-sized populations leads to decreased extinction risk due to greater purging of strongly deleterious variants. Our findings challenge the traditional conservation paradigm that focuses on genetic diversity in assessing extinction risk in favor of a new view that emphasizes minimizing deleterious variation. These insights have immediate implications for managing small and isolated populations in the increasingly fragmented landscape of the Anthropocene.

biorxiv evolutionary-biology 100-200-users 2019

Population history and genetic adaptation of the Fulani nomads Inferences from genome-wide data and the lactase persistence trait, bioRxiv, 2019-05-27

AbstractHuman population history in the Holocene was profoundly impacted by changes in lifestyle following the invention and adoption of food-production practices. These changes triggered significant increases in population sizes and expansions over large distances. Here we investigate the population history of the Fulani, a pastoral population extending throughout the African SahelSavannah belt. Based on genome-wide analyses we propose that ancestors of the Fulani population experienced admixture between a West African group and a group carrying both European and North African ancestries. This admixture was likely coupled with newly adopted herding practices, as it resulted in signatures of genetic adaptation in contemporary Fulani genomes, including the control element of the LCT gene enabling carriers to digest lactose throughout their lives. The lactase persistence (LP) trait in the Fulani is conferred by the presence of the allele T-13910, which is also present at high frequencies in Europe. We establish that the T-13910 LP allele in Fulani individuals analysed in this study lies on a European haplotype background thus excluding parallel convergent evolution. Our findings further suggest that Eurasian admixture and the European LP allele was introduced into the Fulani through contact with a North African populations. We furthermore confirm the link between the lactose digestion phenotype in the Fulani to the MCM6LCT locus by reporting the first Genome Wide Association study (GWAS) of the lactase persistence trait. We also further explored signals of recent adaptation in the Fulani and identified additional candidates for selection to adapt to herding life-styles.

biorxiv evolutionary-biology 100-200-users 2019

 

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