Tomarovsky Andrey, Khan Ruqayya, Dudchenko Olga, Totikov Azamat, Serdyukova Natalia A, Weisz David, Vorobieva Nadejda V, Bulyonkova Tatiana, Abramov Alexei V, Nie Wenhui, Wang Jinhuan, Romanenko Svetlana A, Proskuryakova Anastasiya A, Cherkasov Nikolay, Ferguson-Smith Malcolm A, Yang Fengtang, Balanovskaya Elena, Gilbert M Thomas P, Graphodatsky Alexander S, Aiden Erez Lieberman, Powell Roger, Koepfli Klaus-Peter, Perelman Polina L, Kliver Sergei
Department of Diversity and Evolution of Genomes, Institute of Molecular and Cellular Biology SB RAS, Novosibirsk, Russia.
Department of Natural Sciences, Novosibirsk State University, Novosibirsk, Russia.
J Hered. 2025 Jul 21;116(4):548-557. doi: 10.1093/jhered/esaf001.
The stone marten (Martes foina) is an important species for cytogenetic studies in the order Carnivora. ZooFISH probes created from its chromosomes provided a strong and clean signal in chromosome painting experiments and were valuable for studying the evolution of carnivoran genome architecture. The research revealed that the stone marten chromosome set is similar to the presumed ancestral karyotype of the Carnivora, which added an additional value for the species. Using linked-read and Hi-C sequencing, we generated a chromosome-length genome assembly of a male stone marten (Gansu province, China) from a primary cell line. The stone marten assembly had a length of 2.42 Gbp, scaffold N50 of 144 Mbp, and a 96.2% BUSCO completeness score. We identified 19 chromosomal scaffolds (2n = 38) and assigned them chromosome ids based on chromosome painting data. Annotation identified 20,087 protein-coding gene models, of which 18,283 were assigned common names. Comparison of the stone marten assembly with the cat, dog, and human genomes revealed several small syntenic blocks absent on the published painting maps. Finally, we assessed the heterozygosity and its distribution over the chromosomes. The detected low heterozygosity level (0.4 hetSNPs/kbp) and the presence of long runs of homozygosity require further research and a new evaluation of the conservation status of the stone marten in China. Combined with available carnivoran genomes in large-scale synteny analysis, the stone marten genome will highlight new features and events in carnivoran evolution, hidden from cytogenetic approaches.
石貂（Martes foina）是食肉目细胞遗传学研究中的重要物种。由其染色体创建的动物园荧光原位杂交（ZooFISH）探针在染色体涂染实验中提供了强烈而清晰的信号，对研究食肉动物基因组结构的进化具有重要价值。研究表明，石貂的染色体组与食肉目假定的祖先核型相似，这为该物种增添了额外价值。我们利用链读测序和Hi-C测序技术，从一个原代细胞系构建了一只雄性石貂（中国甘肃省）的染色体水平基因组组装。该石貂基因组组装长度为2.42 Gbp，支架N50为144 Mbp，BUSCO完整性评分为96.2%。我们鉴定出19个染色体支架（2n = 38），并根据染色体涂染数据为它们分配了染色体编号。注释确定了20,087个蛋白质编码基因模型，其中18,283个被赋予了通用名称。将石貂的基因组组装与猫、狗和人类基因组进行比较，发现了一些已发表涂染图谱上未出现的小的同线基因座。最后，我们评估了杂合性及其在染色体上的分布。检测到的低杂合性水平（0.4个杂合单核苷酸多态性/kbp）以及长纯合片段的存在，需要进一步研究并重新评估中国石貂的保护状况。结合大规模同线分析中现有的食肉动物基因组，石貂基因组将揭示食肉动物进化中一些细胞遗传学方法所未发现的新特征和事件。
