Chromosome-level genome assembly of the Brazilian merganser (Mergus octosetaceus), a rare and elusive waterfowl species

BackgroundThe Brazilian merganser (Mergus octosetaceus) is a critically endangered bird, with fewer than 250 mature individuals remaining in fragmented populations of the Cerrado biome in Brazil. It is an ecologically demanding species that requires clear water of fast-flowing rivers for diving and foraging, and riverside cavities for nesting. Technical and logistical challenges have restricted sampling and research to few genetic studies so far. The genetic results consistently revealed a low genetic diversity and high inbreeding in the species. Besides, the lack of a reference genome has precluded deeper evolutionary and conservation genetic analyses for the species. ResultsWe generated the first high-quality, chromosome-level genome assembly for Mergus octosetaceus using PacBio HiFi long reads and Arima Hi-C data from a female specimen. The assembly is 1.25 Gb in length, is highly complete, scoring 98.9% of BUSCO completeness, and includes both sex chromosomes (Z and W). Annotated repetitive elements comprise 18.94% of the genome, with evidence of recent activity, particularly among LINEs and LTRs retrotransposons. We also produced and annotated the complete mitochondrial genome, identifying 37 genes and the control region. Comparative synteny analysis with other Anatidae species revealed strong chromosomal conservation, with several inversion events in macrochromosomes. Demographic history reconstruction indicated fluctuations in effective population size, with significant reductions overlapped by major temperature changes, highlighting potential climate sensitivity of this lineage. ConclusionThis reference genome provides a fundamental resource for M. octosetaceus, enabling insights into genome evolution, chromosomal dynamics within Anatidae, and past population history. It is a remarkable foundation for future research and conservation strategies for managing and restoring this critically endangered species.