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

A Beary Good Genome: Haplotype-Resolved, Chromosome-Level Assembly of the Brown Bear (Ursus arctos).
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DOI:
10.1093/gbe/evac125
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发表时间:
2022-09-06
影响因子:
3.3
通讯作者:
Kelley, Joanna L.
Kelley, Joanna L.
中科院分区:
生物学2区
文献类型:
--
作者:
Armstrong, Ellie E.;Perry, Blair W.;Huang, Yongqing;Garimella, Kiran, V;Jansen, Heiko T.;Robbins, Charles T.;Tucker, Nathan R.;Kelley, Joanna L.

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棕熊(Ursus Arctos)是地球上现存的第二大、分布最广的陆生食肉动物,最近成为人类代谢性疾病的医学模型。在这里,我们报告了一只雄性北美棕熊的完全染色体水平的组装,该组装是通过结合太平洋生物科学(PacBio)的HiFi数据和公开的Hi-C数据构建的。最终基因组大小为2.47千兆碱基(GB),骨架和重叠群N50的长度分别为70.08兆碱基(Mb)和43.94兆碱基(Mb)。基准通用单拷贝同源基因(BUSCO)分析显示,哺乳动物基因组中94.5%的单拷贝同源基因存在于基因组中(是迄今为止所有熊类基因组中最高的)。重复元件占基因组的44.48%,共鉴定出20480个蛋白质编码基因。基于与北极熊的全基因组比对,棕熊与北极熊高度同源,我们对7246个单拷贝同源序列的系统发育分析支持目前提出的熊科物种树。这种高度连续的基因组组装将支持未来对熊科动物进化史和冬眠背后的生理机制的研究,后者具有广泛的医学意义。
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.
DOI: 10.1093/oxfordjournals.molbev.a026334
发表时间: 2000-04-01
影响因子: 10.7
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发表时间: 2014-11-25
期刊: BMC bioinformatics
影响因子: 3
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DOI: 10.1038/nature10231
发表时间: 2011-07-13
期刊: NATURE
影响因子: 64.8
作者:
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通讯作者: Durbin, Richard