Rebekah Mohn

and 3 more

The increasing affordability of whole genome resequencing in the past five years and numbers of published reference genomes have enabled multispecies population genomic and phylogenomic studies on non-model organisms, but they raise new questions: what reference genomes should be used for read mapping in comparative studies, and what mapping methods provide the greatest and least bias in comparative genomics? Focusing on Eastern North American white oaks (Quercus sect. Quercus), which have an estimated 36 Ma divergence, we compared the effects of mapping resequencing data to four Quercus reference genomes, using three read-mapping methods: Bowtie2 –end-to-end, Bowtie2 –local, and BWA mapping methods. We analyzed the reference genomes and read-mapping methods in a fully factorial design to call variants and invariants for nine Quercus genome resequencing samples, then used the resulting datasets to test how different combinations of reference genome and method influence genotyping accuracy and bias. We found that both the genetic distance of the reference genome to the ingroup samples and mapping method together impacted sample heterozygosity, tree topology, and tree branch lengths. Specifically, the heterozygosity of closely-related sample/reference genome pairs using Bowtie2 –end-to-end alone was not significantly different from the average heterozygosity of samples that match the reference species. The outgroup reference genome resulted in low base pair recovery, low heterozygosity, and unbalanced phylogenies. We concluded that using a closely related, but not conspecific reference is ideal to minimize bias from the reference and Bowtie2 –end-to-end minimizes mismapping enabling the most accurate calls.

Marcial Escudero

and 3 more

Holocentric organisms, unlike typical monocentric organisms, have kinetochore activity distributed along almost the whole length of the chromosome. Because of this, chromosomal rearrangements through fission and fusion are more likely to become fixed in holocentric species, which may account for their extraordinary rates of chromosome evolution. Genome synteny has been reported to be conserved in animals with holocentric chromosomes despite high rates of chromosome rearrangements. Comparing genomes of Carex species and a genome of a distantly related Cyperaceae we have characterised conserved vs. rearranged genome regions across pairs of species that range in time since divergence between 2 and 50 million years. We have compared a C. scoparia genome with a linkage map of the same species to study rearrangements at a population level and suppression of recombination patterns. We found a surprisingly conserved genome synteny even between very distantly related species and extraordinarily high rates of chromosome evolution in genus Carex. Comparing the distribution of repetitive DNA and gene density between conserved and rearranged genomic regions, we found repetitive DNA to be related to holocentromeres and as well as rearranged regions of the genome. This evidence of extremely conserved synteny in sedges and the massive events of chromosome fission and fusion found across the evolution of genus Carex suggests the presence of common genomic hotspots of chromosome evolution related to repetitive DNA.