ArticleBMC evolutionary biology2014
Microcephaly genes evolved adaptively throughout the evolution of eutherian mammals.
Article in BMC evolutionary biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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22 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.BMC genomics · 2022Pooled it
- Primate abnormal spindle-like microcephaly-associated knockout causes severe microcephaly and oligodendrocyte loss in the brain.Protein & cell · 2026Article
- Proximate mechanisms underlying the coevolution of diet quality and relative brain size in primates.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Article
- Genetics of human brain development.Nature reviews. Genetics · 2024Review
- Hominoid SVA-lncRNA AK057321 targets human-specific SVA retrotransposons in SCN8A and CDK5RAP2 to initiate neuronal maturation.Communications biology · 2023Article
- Prenatal Identification of a Novel Mutation in theChildren (Basel, Switzerland) · 2022Article
- Human cerebral organoids - a new tool for clinical neurology research.Nature reviews. Neurology · 2022Review
- Equivocal evidence for a link between megalencephaly-related genes and primate brain size evolution.Scientific reports · 2022Article
- Genomic selection signatures in autism spectrum disorder identifies cognitive genomic tradeoff and its relevance in paradoxical phenotypes of deficits versus potentialities.Scientific reports · 2021Article
- Molecular evolutionary analysis of human primary microcephaly genes.BMC ecology and evolution · 2021Article
- Article
- Roots of the Malformations of Cortical Development in the Cell Biology of Neural Progenitor Cells.Frontiers in neuroscience · 2021Review
- Evolution of ASPM coding variation in apes and associations with brain structure in chimpanzees.Genes, brain, and behavior · 2019Article
- Evolution of the Chordate Telencephalon.Current biology : CB · 2019Review
- Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).Genetics research · 2018Review
- Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size.Nature · 2018Article
- Brain evolution and development: adaptation, allometry and constraint.Proceedings. Biological sciences · 2016Review
- Genomic divergence and brain evolution: How regulatory DNA influences development of the cerebral cortex.BioEssays : news and reviews in molecular, cellular and developmental biology · 2016Review
- Autism As a Disorder of High Intelligence.Frontiers in neuroscience · 2016Article
- Aspm sustains postnatal cerebellar neurogenesis and medulloblastoma growth in mice.Development (Cambridge, England) · 2015Article
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2 authors at 2 institutions in 1 country.
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Abstract
backgroundGenes associated with the neurodevelopmental disorder microcephaly display a strong signature of adaptive evolution in primates. Comparative data suggest a link between selection on some of these loci and the evolution of primate brain size. Whether or not either positive selection or this phenotypic association are unique to primates is unclear, but recent studies in cetaceans suggest at least two microcephaly genes evolved adaptively in other large brained mammalian clades.
resultsHere we analyse the evolution of seven microcephaly loci, including three recently identified loci, across 33 eutherian mammals. We find extensive evidence for positive selection having acted on the majority of these loci not just in primates but also across non-primate mammals. Furthermore, the patterns of selection in major mammalian clades are not significantly different. Using phylogenetically corrected comparative analyses, we find that the evolution of two microcephaly loci, ASPM and CDK5RAP2, are correlated with neonatal brain size in Glires and Euungulata, the two most densely sampled non-primate clades.
conclusionsTogether with previous results, this suggests that ASPM and CDK5RAP2 may have had a consistent role in the evolution of brain size in mammals. Nevertheless, several limitations of currently available data and gene-phenotype tests are discussed, including sparse sampling across large evolutionary distances, averaging gene-wide rates of evolution, potential phenotypic variation and evolutionary reversals. We discuss the implications of our results for studies of the genetic basis of brain evolution, and explicit tests of gene-phenotype hypotheses.
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