ArticleAdvanced science (Weinheim, Baden-Wurttemberg, Germany)2023
A Human-Specific De Novo Gene Promotes Cortical Expansion and Folding.
Article in Advanced science (Weinheim, Baden-Wurttemberg, Germany), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
- Review
- Evolutionary innovation through fusion of sequences from across the tree of life.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Gene expression profiling enables refined parcellation of cortical layers in the heterogeneous human cerebral cortex.Genome medicine · 2026Article
- Cell type-specific expression and subcellular localization of the human insulin upstream open reading frame (INSU) protein in pancreatic β-cells.The Journal of biological chemistry · 2026Article
- Article
- A Human-specific Protein Regulated by Alternative Polyadenylation Shapes Uniqueness of Human Brain Development.Genomics, proteomics & bioinformatics · 2025Article
- Mitochondrial Microproteins: Emerging Regulators in Neurodevelopment and Neurodegeneration.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025Review
- Radiomics models predict early neurodevelopment in infants with congenital cardiac septal defects.Quantitative imaging in medicine and surgery · 2025Article
- Oncogenic roles of young human de novo genes and their potential as neoantigens in cancer immunotherapy.Cell genomics · 2025Article
- A de novo Gene Promotes Seed Germination Under Drought Stress in Arabidopsis.Molecular biology and evolution · 2025Article
- Expression of Random Sequences and de novo Evolved Genes From the Mouse in Human Cells Reveals Functional Diversity and Specificity.Genome biology and evolution · 2024Article
- Human-specific genetic hallmarks in neocortical development: focus on neural progenitors.Current opinion in genetics & development · 2024Review
- Molecular Lineages and Spatial Distributions of Subplate Neurons in the Human Fetal Cerebral Cortex.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Identification of old coding regions disproves the hominoid de novo status of genes.Nature ecology & evolution · 2024Article
- The Rapid Evolution of De Novo Proteins in Structure and Complex.Genome biology and evolution · 2024Article
- A Human-Specific De Novo Gene Promotes Cortical Expansion and Folding.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
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Authors and funding
14 authors at 2 institutions in 1 country.
Funding
Abstract
Newly originated de novo genes have been linked to the formation and function of the human brain. However, how a specific gene originates from ancestral noncoding DNAs and becomes involved in the preexisting network for functional outcomes remains elusive. Here, a human-specific de novo gene, SP0535, is identified that is preferentially expressed in the ventricular zone of the human fetal brain and plays an important role in cortical development and function. In human embryonic stem cell-derived cortical organoids, knockout of SP0535 compromises their growth and neurogenesis. In SP0535 transgenic (TG) mice, expression of SP0535 induces fetal cortex expansion and sulci and gyri-like structure formation. The progenitors and neurons in the SP0535 TG mouse cortex tend to proliferate and differentiate in ways that are unique to humans. SP0535 TG adult mice also exhibit improved cognitive ability and working memory. Mechanistically, SP0535 interacts with the membrane protein Na
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