南极冰鱼的基因缺失:模仿范可尼贫血症的进化适应?

IF 3.5 2区 生物学 Q2 BIOTECHNOLOGY & APPLIED MICROBIOLOGY BMC Genomics Pub Date : 2024-11-18 DOI:10.1186/s12864-024-11028-0
Seung Chul Shin, Sanghee Kim, Han-Woo Kim, Jun Hyuck Lee, Jin-Hyoung Kim
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引用次数: 0

摘要

背景:白血南极冰鱼是在南大洋恒温条件下生存的一种代表性生物,它们没有血红蛋白基因。为了弥补氧气运输效率低下的问题,白血冰鱼的心脏增大、血容量增加、血细胞比容密度降低等独特特征提高了溶氧量和血流速度:在此,我们通过比较白血鱼类和红血鱼类的高质量基因组数据,研究了这些独特的特征,并确定了与贫血症有关的 FAAP20 的缺失。虽然通过比对分析表明,包含 FAAP20 的基因区域在蝾螈类中是保守的,但在几个冰鱼物种中,只有 FAAP20 的残余部分存在。此外,我们还观察到在胆固醇代谢中起关键作用的 SOAT1 的缺失,这为进一步研究冰鱼独特的线粒体形式提供了线索:FAAP20在小鼠和人类的应激条件下会降低红细胞数量,它的缺失可能为了解南极冰鱼与供氧有关的基因组特征(如低血细胞比容)提供了线索。
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Gene loss in Antarctic icefish: evolutionary adaptations mimicking Fanconi Anemia?

Background: The white-blooded Antarctic icefishes is a representative organism that survive under the stenothermal conditions of the Southern Ocean without the hemoglobin genes. To compensate for inefficient oxygen transport, distinct features such as increased heart size, greater blood volume, and reduced hematocrit density enhance the amount of dissolved oxygen and the velocity of blood flow.

Results: Here, we investigated these unique characteristics by comparing high-quality genomic data between white-blooded and red-blooded fishes and identified the loss of FAAP20, which is implicated in anemia. Although the gene region containing FAAP20 is conserved in notothenioids as shown through collinear analysis, only remnants of FAAP20 persist in several icefish species. Additionally, we observed the loss of SOAT1, which plays a pivotal role in cholesterol metabolism, providing a clue for further investigations into the unique mitochondrial form of the icefish.

Conclusions: The loss of FAAP20, which is known to reduce erythrocyte counts under stress conditions in mice and humans, may provide a clue to understanding the genomic characteristics related to oxygen supply, such as low hematocrit, in Antarctic icefishes.

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来源期刊
BMC Genomics
BMC Genomics 生物-生物工程与应用微生物
CiteScore
7.40
自引率
4.50%
发文量
769
审稿时长
6.4 months
期刊介绍: BMC Genomics is an open access, peer-reviewed journal that considers articles on all aspects of genome-scale analysis, functional genomics, and proteomics. BMC Genomics is part of the BMC series which publishes subject-specific journals focused on the needs of individual research communities across all areas of biology and medicine. We offer an efficient, fair and friendly peer review service, and are committed to publishing all sound science, provided that there is some advance in knowledge presented by the work.
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