Leveraging synteny to generate reference genomes for conservation:
Assembling the genomes of Hector’s and Māui dolphins
Abstract
Escalating concern regarding the impacts of reduced genetic diversity on
the conservation of endangered species has spurred efforts to obtain
chromosome-level genomes through consortia such as the Vertebrate
Genomes Project. However, assembling reference genomes for many
threatened species remains challenging due to difficulties obtaining
optimal input samples (e.g., fresh tissue, cell lines) that can
characterize long-term conservation collections. Here, we present a
pipeline that leverages genome synteny to construct high-quality genomes
for species of conservation concern despite less-than-optimal samples
and/or sequencing data, demonstrating its use on Hector’s and Māui
dolphins. These endemic New Zealand dolphins are threatened by human
activities due to their coastal habitat and small population sizes.
Hector’s dolphins are classified as endangered by the IUCN, while the
Māui dolphin is among the most critically endangered marine mammals. To
assemble reference genomes for these dolphins, we created a pipeline
combining de novo assembly tools with reference-guided techniques,
utilizing chromosome-level genomes of closely related species. The
pipeline assembled highly contiguous chromosome-level genomes (scaffold
N50: 110 MB, scaffold L50: 9, miniBUSCO completeness scores
>96.35%), despite non-optimal input tissue samples. We
demonstrate that these genomes can provide insights relevant for
conservation, including historical demography revealing long-term small
population sizes, with subspecies divergence occurring ~20
kya, potentially linked to the Last Glacial Maximum. Māui dolphin
heterozygosity was 40% lower than Hector’s and comparable to other
cetacean species noted for reduced genetic diversity. Through these
exemplar genomes, we demonstrate that our pipeline can provide
high-quality genomic resources to facilitate ongoing conservation
genomics research.