Haplotype-resolved genomes provide insights into the origins and functional significance of genome diversity in bivalves

Summary: Bivalves are famed for exhibiting vast genetic diversity of poorly understood origins and functional significance. Through comparative genomics, we demonstrate that high genetic diversity in these invertebrates is not directly linked to genome size. Using oysters as a representative clade,...

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Main Authors: Shikai Liu, Chenyu Shi, Chenguang Chen, Ying Tan, Yuan Tian, Daniel J. Macqueen, Qi Li
Format: Article
Language:English
Published: Elsevier 2025-05-01
Series:Cell Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S2211124725004681
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author Shikai Liu
Chenyu Shi
Chenguang Chen
Ying Tan
Yuan Tian
Daniel J. Macqueen
Qi Li
author_facet Shikai Liu
Chenyu Shi
Chenguang Chen
Ying Tan
Yuan Tian
Daniel J. Macqueen
Qi Li
author_sort Shikai Liu
collection DOAJ
description Summary: Bivalves are famed for exhibiting vast genetic diversity of poorly understood origins and functional significance. Through comparative genomics, we demonstrate that high genetic diversity in these invertebrates is not directly linked to genome size. Using oysters as a representative clade, we show that despite genome size reduction during evolution, these bivalves maintain remarkable genetic variability. By constructing a haplotype-resolved genome for Crassostrea sikamea, we identify widespread haplotype divergent sequences (HDSs), representing genomic regions unique to each haplotype. We show that HDSs are driven by transposable elements, playing a key role in creating and maintaining genetic diversity during oyster evolution. Comparisons of haplotype-resolved genomes across four bivalve orders uncover diverse HDS origins, highlighting a role in genetic innovation and expression regulation across broad timescales. Further analyses show that, in oysters, haplotype polymorphisms drive gene expression variation, which is likely to promote phenotypic plasticity and adaptation. These findings advance our understanding of the relationships among genome structure, diversity, and adaptability in a highly successful invertebrate group.
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publishDate 2025-05-01
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series Cell Reports
spelling doaj-art-f764f00b51f74edd9abe065a2ab69c6f2025-08-20T03:09:39ZengElsevierCell Reports2211-12472025-05-0144511569710.1016/j.celrep.2025.115697Haplotype-resolved genomes provide insights into the origins and functional significance of genome diversity in bivalvesShikai Liu0Chenyu Shi1Chenguang Chen2Ying Tan3Yuan Tian4Daniel J. Macqueen5Qi Li6Key Laboratory of Mariculture (Ocean University of China), Ministry of Education, and College of Fisheries, Ocean University of China, Qingdao, China; Laboratory for Marine Fisheries Science and Food Production Processes, Qingdao Marine Science and Technology Center, Qingdao, Shandong, China; Corresponding authorKey Laboratory of Mariculture (Ocean University of China), Ministry of Education, and College of Fisheries, Ocean University of China, Qingdao, ChinaKey Laboratory of Mariculture (Ocean University of China), Ministry of Education, and College of Fisheries, Ocean University of China, Qingdao, ChinaKey Laboratory of Mariculture (Ocean University of China), Ministry of Education, and College of Fisheries, Ocean University of China, Qingdao, ChinaKey Laboratory of Mariculture (Ocean University of China), Ministry of Education, and College of Fisheries, Ocean University of China, Qingdao, ChinaThe Roslin Institute and Royal (Dick) School of Veterinary Studies, The University of Edinburgh, Midlothian, UKKey Laboratory of Mariculture (Ocean University of China), Ministry of Education, and College of Fisheries, Ocean University of China, Qingdao, China; Laboratory for Marine Fisheries Science and Food Production Processes, Qingdao Marine Science and Technology Center, Qingdao, Shandong, China; Corresponding authorSummary: Bivalves are famed for exhibiting vast genetic diversity of poorly understood origins and functional significance. Through comparative genomics, we demonstrate that high genetic diversity in these invertebrates is not directly linked to genome size. Using oysters as a representative clade, we show that despite genome size reduction during evolution, these bivalves maintain remarkable genetic variability. By constructing a haplotype-resolved genome for Crassostrea sikamea, we identify widespread haplotype divergent sequences (HDSs), representing genomic regions unique to each haplotype. We show that HDSs are driven by transposable elements, playing a key role in creating and maintaining genetic diversity during oyster evolution. Comparisons of haplotype-resolved genomes across four bivalve orders uncover diverse HDS origins, highlighting a role in genetic innovation and expression regulation across broad timescales. Further analyses show that, in oysters, haplotype polymorphisms drive gene expression variation, which is likely to promote phenotypic plasticity and adaptation. These findings advance our understanding of the relationships among genome structure, diversity, and adaptability in a highly successful invertebrate group.http://www.sciencedirect.com/science/article/pii/S2211124725004681CP: Genomics
spellingShingle Shikai Liu
Chenyu Shi
Chenguang Chen
Ying Tan
Yuan Tian
Daniel J. Macqueen
Qi Li
Haplotype-resolved genomes provide insights into the origins and functional significance of genome diversity in bivalves
Cell Reports
CP: Genomics
title Haplotype-resolved genomes provide insights into the origins and functional significance of genome diversity in bivalves
title_full Haplotype-resolved genomes provide insights into the origins and functional significance of genome diversity in bivalves
title_fullStr Haplotype-resolved genomes provide insights into the origins and functional significance of genome diversity in bivalves
title_full_unstemmed Haplotype-resolved genomes provide insights into the origins and functional significance of genome diversity in bivalves
title_short Haplotype-resolved genomes provide insights into the origins and functional significance of genome diversity in bivalves
title_sort haplotype resolved genomes provide insights into the origins and functional significance of genome diversity in bivalves
topic CP: Genomics
url http://www.sciencedirect.com/science/article/pii/S2211124725004681
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