Menu
2021年06月01日

High-quality de novo genome assembly and intra-individual mitochondrial instability in the critically endangered kakapo

Author(s): Korlach, Jonas and Howard, Jason T. and Robertson, Bruce and Kingan, Sarah B. and Muehling, Jill and Baybayan, Primo and Hall, Richard and Jarvis, Erich D.

The kakapo (Strigops habroptila) is a large, flightless parrot endemic to New Zealand. It is highly endangered with only ~150 individuals remaining, and intensive conservation efforts are underway to save this iconic species from extinction. These include genetic studies to understand critical genes relevant to fertility, adaptation and disease resistance, and genetic diversity across the remaining population for future breeding program decisions. To aid with these efforts, we have generated a high-quality de novo genome assembly using PacBio long-read sequencing. Using the new diploid-aware FALCON-Unzip assembler, the resulting genome of 1.06 Gb has a contig N50 of 5.6 Mb (largest contig 29.3 Mb), >350-times more contiguous compared to a recent short-read assembly of a closely related parrot (kea) species. We highlight the benefits of the higher contiguity and greater completeness of the kakapo genome assembly through examples of fully resolved genes important in wildlife conservation (contrasted with fragmented and incomplete gene resolution in short-read assemblies), in some cases even providing sequence for regions orthologous to gaps of missing sequence in the chicken reference genome. We also highlight the complete resolution of the kakapo mitochondrial genome, fully containing the mitochondrial control region which is missing from the previous dedicated kakapomitochondrial genome NCBI entry. For this region, we observed a marked heterogeneity in the number of tandem repeats in different mtDNAmolecules from a single bird tissue, highlighting the enhanced molecular resolution uniquely afforded by long-read, single-molecule PacBio sequencing.

Organization: PacBio
Year: 2018

View Conference Poster

咨询专家

如果您有疑问、需要查看订单状态或想要购买仪器,我们随时乐意提供帮助。

姓名(Required)
这个字段是用于验证目的,应该保持不变。

在本网页上注册,即表示您同意,并同意 PacBio 根据我们的隐私政策收集和使用该信息.