{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["6(3)"],"submitter":["Xu S"],"funding":["National Natural Science Foundation of China"],"pubmed_abstract":["Marine mammals provide a valuable model for studying the molecular basis of convergent evolution during secondary aquatic adaptation. Using multi-omics data and functional experiments, including CRISPR-Cas9 mouse models and luciferase reporter assays, this study explored the molecular mechanisms driving this transition across coding regions, regulatory elements, and genomic architecture. Convergent amino acid substitutions in <i>APPL1</i> <sup>P378L</sup> and <i>NEIL1</i> <sup>E71G</sup> were found to promote lipid accumulation and suppress cancer cell proliferation, likely contributing to the evolution of extensive blubber layers and cancer resistance. Convergently evolved conserved non-exonic elements (CNEs) and lineage-specific regulatory variations were shown to influence the activity of nearby genes (e.g., <i>NKX3-2</i>, <i>SOX9</i>, <i>HAND2</i>), shaping cetacean limb phenotypes. Additionally, convergent shifts in topologically associating domains (TADs) across cetaceans and pinnipeds were implicated in the regulation of <i>ASXL3</i> and <i>FAM43B</i> expression, playing a role in the formation of thickened blubber layers and mitigating cancer susceptibility. Structural variations within conserved TADs were associated with the expression of neuronal genes, including <i>NUP153</i> and <i>ID4</i>, potentially driving cognitive and social adaptations. These findings provide novel insights into the molecular foundations of the convergent evolution of secondary aquatic adaptations in mammals."],"journal":["Innovation (Cambridge (Mass.))"],"pagination":["100798"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11910941"],"repository":["biostudies-literature"],"pubmed_title":["Multi-level genomic convergence of secondary aquatic adaptation in marine mammals."],"pmcid":["PMC11910941"],"pubmed_authors":["Zhou M","Ren W","Yang G","Zheng Y","Shan L","Zhang Q","Deme L","Sun L","Zhang Z","Yin D","Tian R","Sun D","Xu S","Chen Y","Liang N","Chai S","Wu T","Yu Z","Seim I","Xu Z"],"additional_accession":[]},"is_claimable":false,"name":"Multi-level genomic convergence of secondary aquatic adaptation in marine mammals.","description":"Marine mammals provide a valuable model for studying the molecular basis of convergent evolution during secondary aquatic adaptation. Using multi-omics data and functional experiments, including CRISPR-Cas9 mouse models and luciferase reporter assays, this study explored the molecular mechanisms driving this transition across coding regions, regulatory elements, and genomic architecture. Convergent amino acid substitutions in <i>APPL1</i> <sup>P378L</sup> and <i>NEIL1</i> <sup>E71G</sup> were found to promote lipid accumulation and suppress cancer cell proliferation, likely contributing to the evolution of extensive blubber layers and cancer resistance. Convergently evolved conserved non-exonic elements (CNEs) and lineage-specific regulatory variations were shown to influence the activity of nearby genes (e.g., <i>NKX3-2</i>, <i>SOX9</i>, <i>HAND2</i>), shaping cetacean limb phenotypes. Additionally, convergent shifts in topologically associating domains (TADs) across cetaceans and pinnipeds were implicated in the regulation of <i>ASXL3</i> and <i>FAM43B</i> expression, playing a role in the formation of thickened blubber layers and mitigating cancer susceptibility. Structural variations within conserved TADs were associated with the expression of neuronal genes, including <i>NUP153</i> and <i>ID4</i>, potentially driving cognitive and social adaptations. These findings provide novel insights into the molecular foundations of the convergent evolution of secondary aquatic adaptations in mammals.","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Mar","modification":"2026-06-01T06:04:58.506Z","creation":"2025-04-03T23:26:47.036Z"},"accession":"S-EPMC11910941","cross_references":{"pubmed":["40098664"],"doi":["10.1016/j.xinn.2025.100798"]}}