<i>Aplf/Dna2</i> variants drive chromosomal fission and accelerate speciation in zokors
Chromosomal fissions and fusions are common, yet the molecular mechanisms and implications in speciation remain poorly understood. Here, we confirm a fission event in one zokor species through multiple-omics and functional analyses. We traced this event to a mutation in a splicing enhancer of the DNA repair gene <i>Aplf</i> in the fission-bearing species, which caused exon skipping and produced a truncated protein that disrupted DNA repair. An intronic deletion in <i>Dna2</i>, known to facilitate neo-telomere formation when knocked out, reduced gene activity. These variants collectively drove chromosomal fission in this zokor species. The newly formed chromosome became fixed due to carrying essential genes and strong selective pressure. While geographic isolation likely initiated the divergence of this species and the sister one, the fission event and associated decline at the chromosome level in gene flow probably exacerbated the speciation process. Our work elucidates the genetic basis of chromosomal fission and underscores its role in speciation dynamics.
Authors
- Xuan An (ORCID: https://orcid.org/0000-0003-0728-2752)
- Xiaolong Liang
- Yinjia Wang
- Zhenyuan Cai (ORCID: https://orcid.org/0000-0003-2066-2725)
- Kexin Li (ORCID: https://orcid.org/0000-0003-1906-3477)
- Sanyuan Liu (ORCID: https://orcid.org/0009-0009-8127-1681)
- Jianquan Liu (ORCID: https://orcid.org/0000-0002-4237-7418)
- Axel Meyer (ORCID: https://orcid.org/0000-0002-0888-8193)
- Na Wan (ORCID: https://orcid.org/0000-0002-8122-350X)
- Qijiao Duan
- Riccardo Papa (ORCID: https://orcid.org/0000-0002-7986-9993)
- Wei Shen (ORCID: https://orcid.org/0000-0002-3585-0369)
- Zhuoran Kuang (ORCID: https://orcid.org/0000-0002-3927-6149)
- Leyan Mao
- Zhanwu Zhu (ORCID: https://orcid.org/0000-0001-8494-4348)
- Zhilong Feng
- Wénwén Liú (ORCID: https://orcid.org/0000-0001-7239-0851)
- Bowen Li (ORCID: https://orcid.org/0000-0001-9059-2166)
- Jiaqi Chen (ORCID: https://orcid.org/0000-0002-0252-7987)
- Xi Liu (ORCID: https://orcid.org/0009-0007-3587-820X)
- Eviatar Nevo (ORCID: https://orcid.org/0000-0003-2550-6975)
- Jing-Ou Wang
- Xiaojie Yang (ORCID: https://orcid.org/0009-0006-5878-6562)
- Y. L. Tian (ORCID: https://orcid.org/0009-0003-1233-4761)
- Yueting Bu
Institutions
- University of Parma (IT)
- Harvard University (US)
- University of Puerto Rico at Río Piedras (PR)
- University of Konstanz (DE)
- Chinese Academy of Sciences (CN)
- University of Puerto Rico System (PR)
- Zhengzhou University (CN)
- Xinjiang Institute of Ecology and Geography (CN)
- South China Sea Institute Of Oceanology (CN)
- Gaozhou People's Hospital (CN)
- Lanzhou University (CN)
- University of Haifa (IL)
Publication Details
- Journal
- Science Advances
- Published
- 2025-09-05
- DOI
- https://doi.org/10.1126/sciadv.adt2282
- Citations
- 1
- Primary Topic
- Chromosomal and Genetic Variations
- Type
- article
- Field-Weighted Citation Impact
- 1.75