A Beary Good Genome: Haplotype-Resolved, Chromosome-Level Assembly of the Brown Bear (Ursus arctos)

• Main Authors: Armstrong, Ellie E, Perry, Blair W, Huang, Yongqing, Garimella, Kiran V, Jansen, Heiko T, Robbins, Charles T, Tucker, Nathan R, Kelley, Joanna L
• Other Authors: Fraser, Bonnie
• Format: Article in Journal/Newspaper
• Language: unknown
• Published: eScholarship, University of California 2022
• Subjects: Biological Sciences; Bioinformatics and Computational Biology; Genetics; Human Genome; Animals; Chromosomes; Genome; Haplotypes; Humans; Phylogeny; Ursidae; long-read sequencing; comparative genomics; hibernation; Biochemistry and Cell Biology; Evolutionary Biology; Developmental Biology; Pacific; polar bear; Ursus arctos
• Online Access: https://escholarship.org/uc/item/0gd900gw

The brown bear (Ursus arctos) is the second largest and most widespread extant terrestrial carnivore on Earth and has recently emerged as a medical model for human metabolic diseases. Here, we report a fully phased chromosome-level assembly of a male North American brown bear built by combining Pacific Biosciences (PacBio) HiFi data and publicly available Hi-C data. The final genome size is 2.47 Gigabases (Gb) with a scaffold and contig N50 length of 70.08 and 43.94 Megabases (Mb), respectively. Benchmarking Universal Single-Copy Ortholog (BUSCO) analysis revealed that 94.5% of single copy orthologs from Mammalia were present in the genome (the highest of any ursid genome to date). Repetitive elements accounted for 44.48% of the genome and a total of 20,480 protein coding genes were identified. Based on whole genome alignment to the polar bear, the brown bear is highly syntenic with the polar bear, and our phylogenetic analysis of 7,246 single-copy orthologs supports the currently proposed species tree for Ursidae. This highly contiguous genome assembly will support future research on both the evolutionary history of the bear family and the physiological mechanisms behind hibernation, the latter of which has broad medical implications.