Pygmy sperm whale multi-omics data reveal hypoxia adaptations in deep-diving cetaceans
Weijian Guo1,2, Yiting Chen1, Huizhong Fan3
1Center for Evolution and Conservation Biology, Southern Marine Science and Engineering Guangdong Laboratory (Guangzhou), Guangzhou, China.
BMC Biology
|December 27, 2025
Summary
Deep-diving cetaceans possess unique genetic and cellular adaptations for surviving low oxygen conditions. These include changes in energy metabolism and heart function, crucial for their survival during prolonged dives.
Area of Science:
- Marine Biology
- Genomics
- Physiology
Background:
- Deep-diving cetaceans exhibit superior acute hypoxia tolerance compared to terrestrial mammals.
- Understanding the genetic and cellular mechanisms driving this adaptation in cetaceans is limited.
Purpose of the Study:
- To investigate the genetic basis of hypoxia adaptation in deep-diving cetaceans.
- To compare genomic and transcriptomic data between deep-diving whales and terrestrial relatives.
Main Methods:
- Generated a de novo genome assembly for the pygmy sperm whale (Kogia breviceps).
- Performed comparative genomic analysis across 12 cetacean species.
- Sequenced and compared single-nucleus RNA data from pygmy sperm whale and cow (Bos taurus) tissues.
Main Results:
- Identified genetic and cellular changes in the HIF-1 pathway, electron transport chain, and energy metabolism (glucose and fatty acid catabolism) contributing to hypoxia tolerance.
- Observed rapid evolution in glycolysis-related genes (PYGM, ENO3) and differential expression of HIF-1 pathway genes (ARNT).
- Found accelerated conserved noncoding elements in ATP5F1E and DMD, and an increase in specific cardiomyocyte types in pygmy sperm whale tissues.
Conclusions:
- Deep-diving cetaceans have evolved distinct genetic and cellular strategies to manage hypoxia.
- These adaptations provide insights into mammalian cellular responses to low oxygen environments.
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