Département des sciences animales, Faculté des sciences de l'agriculture et de l'alimentation, Université Laval, Québec, QC, Canada.
Centre de Recherche en Reproduction, Développement et Santé Intergénérationnelle, Québec, QC, Canada.
BMC Genomics. 2023 Mar 23;24(1):142. doi: 10.1186/s12864-023-09189-5.
Genome assembly into chromosomes facilitates several analyses including cytogenetics, genomics and phylogenetics. Despite rapid development in bioinformatics, however, assembly beyond scaffolds remains challenging, especially in species without closely related well-assembled and available reference genomes. So far, four draft genomes of Rangifer tarandus (caribou or reindeer, a circumpolar distributed cervid species) have been published, but none with chromosome-level assembly. This emblematic northern species is of high interest in ecological studies and conservation since most populations are declining.
We have designed specific probes based on Oligopaint FISH technology to upgrade the latest published reindeer and caribou chromosome-level genomes. Using this oligonucleotide-based method, we found six mis-assembled scaffolds and physically mapped 68 of the largest scaffolds representing 78% of the most recent R. tarandus genome assembly. Combining physical mapping and comparative genomics, it was possible to document chromosomal evolution among Cervidae and closely related bovids.
Our results provide validation for the current chromosome-level genome assembly as well as resources to use chromosome banding in studies of Rangifer tarandus.
将基因组组装成染色体有助于进行包括细胞遗传学、基因组学和系统发生学在内的多种分析。然而,尽管生物信息学发展迅速,但超越支架的组装仍然具有挑战性,尤其是在没有密切相关的、组装良好且可用的参考基因组的物种中。迄今为止,已经发表了四种 Rangifer tarandus(驯鹿或驯鹿,一种分布在极地的有蹄类物种)的草案基因组,但没有一个具有染色体水平的组装。由于大多数种群正在减少,这个具有代表性的北方物种在生态研究和保护方面具有很高的兴趣。
我们根据 Oligopaint FISH 技术设计了特定的探针,以升级最新发布的驯鹿和驼鹿染色体水平基因组。使用这种基于寡核苷酸的方法,我们发现了六个错误组装的支架,并对 68 个最大的支架进行了物理作图,这些支架代表了最近 R. tarandus 基因组组装的 78%。结合物理作图和比较基因组学,可以记录鹿科和密切相关的牛科动物之间的染色体进化。
我们的结果为当前的染色体水平基因组组装提供了验证,并为在 Rangifer tarandus 研究中使用染色体带型提供了资源。