ArticleGenome biology2020
An evolutionary driver of interspersed segmental duplications in primates.
Article in Genome biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 51 citations in OpenAlex.
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- Genetic diversity and regulatory features of human-specific NOTCH2NL duplications.Cell genomics · 2026Article
- Pooled overexpression screening identifies PIPPI as a novel microprotein involved in the ER stress response.Nucleic acids research · 2025Article
- Structural variation, selection, and diversification of the NPIP gene family from the human pangenome.Cell genomics · 2025Article
- The role of unbalanced segmental duplication in sex chromosome evolution in Australian ridge-tailed goannas.Scientific reports · 2025Article
- The state of the human coding gene catalogues.Database : the journal of biological databases and curation · 2025Article
- More than 2,500 coding genes in the human reference gene set still have unsettled status.bioRxiv : the preprint server for biology · 2024Article
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- Impact and characterization of serial structural variations across humans and great apes.Nature communications · 2024Article
- Genomic Survey of LRR-RLK Genes inPlants (Basel, Switzerland) · 2024Article
- Characterization, evolution, and abiotic stress responses of leucine-rich repeat receptor-like protein kinases (LRR-RLK) in Liriodendron chinense.BMC genomics · 2024Article
- Telomere-to-telomere pear (Horticulture research · 2023Article
- Single-haplotype comparative genomics provides insights into lineage-specific structural variation during cat evolution.Nature genetics · 2023Article
- Genomic structural variation: A complex but important driver of human evolution.American journal of biological anthropology · 2023Review
- Characterization of large-scale genomic differences in the first complete human genome.Genome biology · 2023Article
- A Comprehensive Weighted Gene Co-expression Network Analysis Uncovers Potential Targets in Diabetic Kidney Disease.Journal of translational internal medicine · 2022Article
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- Accuracy benchmark of the GeneMind GenoLab M sequencing platform for WGS and WES analysis.BMC genomics · 2022Article
- SVA Retrotransposons and a Low Copy Repeat in Humans and Great Apes: A Mobile Connection.Molecular biology and evolution · 2022Article
- Segmental duplications and their variation in a complete human genome.Science (New York, N.Y.) · 2022Article
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Authors and funding
22 authors at 10 institutions in 3 countries.
Funding
Abstract
backgroundThe complex interspersed pattern of segmental duplications in humans is responsible for rearrangements associated with neurodevelopmental disease, including the emergence of novel genes important in human brain evolution. We investigate the evolution of LCR16a, a putative driver of this phenomenon that encodes one of the most rapidly evolving human-ape gene families, nuclear pore interacting protein (NPIP).
resultsComparative analysis shows that LCR16a has independently expanded in five primate lineages over the last 35 million years of primate evolution. The expansions are associated with independent lineage-specific segmental duplications flanking LCR16a leading to the emergence of large interspersed duplication blocks at non-orthologous chromosomal locations in each primate lineage. The intron-exon structure of the NPIP gene family has changed dramatically throughout primate evolution with different branches showing characteristic gene models yet maintaining an open reading frame. In the African ape lineage, we detect signatures of positive selection that occurred after a transition to more ubiquitous expression among great ape tissues when compared to Old World and New World monkeys. Mouse transgenic experiments from baboon and human genomic loci confirm these expression differences and suggest that the broader ape expression pattern arose due to mutational changes that emerged in cis.
conclusionsLCR16a promotes serial interspersed duplications and creates hotspots of genomic instability that appear to be an ancient property of primate genomes. Dramatic changes to NPIP gene structure and altered tissue expression preceded major bouts of positive selection in the African ape lineage, suggestive of a gene undergoing strong adaptive evolution.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.