Bubenikova Jana, Plasil Martin, Burger Pamela A, Horin Petr
Research Group Animal Immunogenomics, CEITEC - VETUNI Brno, Brno, Czechia.
Research Institute of Wildlife Ecology, University of Veterinary Medicine Vienna (VETMEDUNI), Vienna, Austria.
Front Genet. 2024 Dec 9;15:1463774. doi: 10.3389/fgene.2024.1463774. eCollection 2024.
Manul () is the only representative of the genus which makes up the Leopard Cat lineage along with the genus . Their habitat is characterized by harsh environmental conditions. Although their populations are probably more stable than previously thought, it is still the case that their population size is declining. Conservation programs exist to protect manuls, but those based on captive breeding are often unsuccessful due to their increased susceptibility to diseases. The manul is therefore a suitable model species for evolutionary and diversity studies as well as for studying mechanisms of adaptation to harsh environment and mechanisms of susceptibility to diseases. Recently, the genome of the based on nanopore long-range sequencing has been published. Aiming to better understand inter- and intraspecific variation of the species, we obtained information on genome sequences of four other manuls, based on whole genome resequencing via the Illumina platform. On average, we detected a total of 3,636,571 polymorphic variants. Information on different types of structural variants and on the extent of SNP homozygosity, not available from the reference genome, was retrieved. The average whole-genome heterozygosity was almost identical to that found in the reference genome. In this context, we performed a more detailed analysis of the candidate gene potentially related to adaptation to the hypoxic environment. This analysis revealed both inter- and intraspecific variation, confirmed the presence of a previously described non-synonymous substitution in exon 15 unique to manuls and identified three additional unique non-synonymous substitutions located in so far not analyzed exonic sequences. The analysis of lncRNA located in the intron 7 of revealed interspecific variability and monomorphic nature of the sequence among analyzed manuls. The data obtained will allow more detailed analyses of the manul genome, focusing on genes and pathways involved in their adaptation to the environment and in susceptibility to diseases. This information can be helpful for optimizing conservation programs for this understudied species.
兔狲是该属的唯一代表,它与豹猫属一同构成豹猫谱系。它们的栖息地环境条件恶劣。尽管其种群数量可能比之前认为的更为稳定,但种群规模仍在下降这一情况依然存在。存在保护兔狲的保护计划,但基于圈养繁殖的计划往往因兔狲对疾病易感性增加而不成功。因此,兔狲是进行进化和多样性研究以及研究适应恶劣环境机制和疾病易感性机制的合适模式物种。最近,基于纳米孔长读长测序的兔狲基因组已发表。为了更好地了解该物种的种间和种内变异,我们基于Illumina平台的全基因组重测序获得了另外四只兔狲的基因组序列信息。平均而言,我们共检测到3,636,571个多态性变异。检索到了参考基因组中未有的关于不同类型结构变异和单核苷酸多态性(SNP)纯合程度的信息。全基因组平均杂合度与参考基因组中发现的几乎相同。在此背景下,我们对可能与适应低氧环境相关的候选基因进行了更详细的分析。该分析揭示了种间和种内变异,证实了兔狲特有的外显子15中存在先前描述的非同义替换,并在迄今未分析的外显子序列中鉴定出另外三个独特的非同义替换。对位于兔狲内含子7中的长链非编码RNA(lncRNA)的分析揭示了种间变异性以及所分析兔狲序列的单态性质。所获得的数据将有助于对兔狲基因组进行更详细的分析,重点关注参与其环境适应和疾病易感性的基因和途径。这些信息有助于优化针对这个研究不足的物种的保护计划。