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《牙鲆基因组草图揭示了长期生存和适应进化的可能遗传机制,同时遗传多样性较低》

Draft Genome of Akame (Lates Japonicus) Reveals Possible Genetic Mechanisms for Long-Term Persistence and Adaptive Evolution with Low Genetic Diversity.

机构信息

Department of Biology, Faculty of Medicine, Osaka Medical and Pharmaceutical University, Takatsuki, Osaka 569-0801, Japan.

Laboratory for Chromosome Segregation, RIKEN Center for Biosystems Dynamics Research (BDR), Chuo-ku, Kobe 650-0047, Japan.

出版信息

Genome Biol Evol. 2024 Aug 5;16(8). doi: 10.1093/gbe/evae174.

Abstract

It is known that some endangered species have persisted for thousands of years despite their very small effective population sizes and low levels of genetic polymorphisms. To understand the genetic mechanisms of long-term persistence in threatened species, we determined the whole genome sequences of akame (Lates japonicus), which has survived for a long time with extremely low genetic variations. Genome-wide heterozygosity in akame was estimated to be 3.3 to 3.4 × 10-4/bp, one of the smallest values in teleost fishes. Analysis of demographic history revealed that the effective population size in akame was around 1,000 from 30,000 years ago to the recent past. The relatively high ratio of nonsynonymous to synonymous heterozygosity in akame indicated an increased genetic load. However, a detailed analysis of genetic diversity in the akame genome revealed that multiple genomic regions, including genes involved in immunity, synaptic development, and olfactory sensory systems, have retained relatively high nucleotide polymorphisms. This implies that the akame genome has preserved the functional genetic variations by balancing selection, to avoid a reduction in viability and loss of adaptive potential. Analysis of synonymous and nonsynonymous nucleotide substitution rates has detected signs of positive selection in many akame genes, suggesting adaptive evolution to temperate waters after the speciation of akame and its close relative, barramundi (Lates calcarifer). Our results indicate that the functional genetic diversity likely contributed to the long-term persistence of this species by avoiding the harmful effects of the population size reduction.

摘要

已知,尽管一些濒危物种的有效种群规模很小且遗传多态性水平较低,但它们已经存活了数千年。为了了解受威胁物种长期生存的遗传机制,我们测定了长期处于遗传低变异性状态下的鱤(Lates japonicus)的全基因组序列。鱤的基因组杂合度估计为 3.3 至 3.4×10-4/bp,是硬骨鱼类中最低的。对种群历史的分析表明,从 3 万年前到最近,鱤的有效种群规模约为 1000。鱤的非同义与同义杂合度比值相对较高,表明遗传负荷增加。然而,对鱤基因组遗传多样性的详细分析表明,包括参与免疫、突触发育和嗅觉感觉系统的多个基因在内的多个基因组区域保留了相对较高的核苷酸多态性。这意味着,通过平衡选择,鱤的基因组保存了功能遗传变异,以避免生存能力降低和适应潜力丧失。对同义与非同义核苷酸取代率的分析在许多鱤基因中检测到了正选择的迹象,表明在鱤及其近缘种尖吻鲈(Lates calcarifer)分化后,它们发生了向温水环境的适应性进化。我们的研究结果表明,功能遗传多样性可能通过避免种群规模缩小的有害影响,有助于该物种的长期生存。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3832/11346364/e67754ea23f7/evae174f1.jpg

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