Ultraconserved Elements Anchor Thousands of Genetic Markers Spanning Multiple Evolutionary Timescales

• Published in: Systematic biology Vol. 61; no. 5; pp. 717 - 726
• Main Authors: Faircloth, Brant C., McCormack, John E., Crawford, Nicholas G., Harvey, Michael G., Brumfield, Robb T., Glenn, Travis C.
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01.10.2012
• Subjects: Animals; Biological taxonomies; Biomarkers; Birds; Computer Simulation; Conserved Sequence; Deoxyribonucleic acid; DNA; Evolution, Molecular; Evolutionary biology; Gene loci; Genetic loci; Genetic Markers; Genome; Genomes; Genomics; High-Throughput Nucleotide Sequencing - methods; Libraries; Phylogenetics; Phylogeny; Primates; Sequence Alignment; Sequence Analysis, DNA - methods; Sequencing; SOCIETY OF SYSTEMATIC BIOLOGISTS SYMPOSIUM ARTICLES; Taxa; Vertebrates - classification; Vertebrates - genetics; sequence capture; Flanking sequence; genetic markers; target enrichment; ultraconserved elements; phylogenomics
• ISSN: 1063-5157; 1076-836X
• DOI: 10.1093/sysbio/sys004

Although massively parallel sequencing has facilitated large-scale DNA sequencing, comparisons among distantly related species rely upon small portions of the genome that are easily aligned. Methods are needed to efficiently obtain comparable DNA fragments prior to massively parallel sequencing, particularly for biologists working with nonmodel organisms. We introduce a new class of molecular marker, anchored by ultraconserved genomic elements (UCEs), that universally enable target enrichment and sequencing of thousands of orthologous loci across species separated by hundreds of millions of years of evolution. Our analyses here focus on use of UCE markers in Amniota because UCEs and phylogenetic relationships are well-known in some amniotes. We perform an in silico experiment to demonstrate that sequence flanking 2030 UCEs contains information sufficient to enable unambiguous recovery of the established primate phylogeny. We extend this experiment by performing an in vitro enrichment of 2386 UCE-anchored loci from nine, nonmodel avian species. We then use alignments of 854 of these loci to unambiguously recover the established evolutionary relationships within and among three ancient bird lineages. Because many organismal lineages have UCEs, this type of genetic marker and the analytical framework we outline can be applied across the tree of life, potentially reshaping our understanding of phylogeny at many taxonomic levels.