ArticleFrontiers in human neuroscience2014
The case for DUF1220 domain dosage as a primary contributor to anthropoid brain expansion.
Article in Frontiers in human neuroscience, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed.
- Olduvai Domains Downregulate Mitochondrial Pathways to Promote Human Brain Evolution and Neoteny.Research square · 2026Article
- Tandem repeats in human brain evolution and disease susceptibility.Molecules and cells · 2026Review
- Article
- Tandem NBPF 3mer HORs (Olduvai triplets) in Neanderthal and two novel HOR tandem arrays in human chromosome 1 T2T-CHM13 assembly.Scientific reports · 2023Article
- Proteolytic activation of human-specific Olduvai domains by the furin protease.International journal of biological macromolecules · 2023Article
- Tandemly repeated NBPF HOR copies (Olduvai triplets): Possible impact on human brain evolution.Life science alliance · 2023Article
- Evolution of genetic mechanisms regulating cortical neurogenesis.Developmental neurobiology · 2022Review
- NBPF4 mitigates progression in colorectal cancer through the regulation of EZH2-associated ETFA.Journal of cellular and molecular medicine · 2021Article
- The psychiatric phenotypes of 1q21 distal deletion and duplication.Translational psychiatry · 2021Article
- The Driver of Extreme Human-Specific Olduvai Repeat Expansion Remains Highly Active in the Human Genome.Genetics · 2020Article
- Decoding the development of the human hippocampus.Nature · 2020Article
- Human core duplicon gene families: game changers or game players?Briefings in functional genomics · 2019Article
- Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution.Human genetics · 2019Article
- iCopyDAV: Integrated platform for copy number variations-Detection, annotation and visualization.PloS one · 2018Article
- Human Accelerated Regions and Other Human-Specific Sequence Variations in the Context of Evolution and Their Relevance for Brain Development.Genome biology and evolution · 2018Review
- Genomic trade-offs: are autism and schizophrenia the steep price of the human brain?Human genetics · 2018Article
- High resolution measurement of DUF1220 domain copy number from whole genome sequence data.BMC genomics · 2017Article
- Review
- Changing the name of the NBPF/DUF1220 domain to the Olduvai domain.F1000Research · 2017Article
- Genetics of Cerebellar and Neocortical Expansion in Anthropoid Primates: A Comparative Approach.Brain, behavior and evolution · 2017Article
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3 authors.
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Abstract
Here we present the hypothesis that increasing copy number (dosage) of sequences encoding DUF1220 protein domains is a major contributor to the evolutionary increase in brain size, neuron number, and cognitive capacity that is associated with the primate order. We further propose that this relationship is restricted to the anthropoid sub-order of primates, with DUF1220 copy number markedly increasing in monkeys, further in apes, and most extremely in humans where the greatest number of copies (~272 haploid copies) is found. We show that this increase closely parallels the increase in brain size and neuron number that has occurred among anthropoid primate species. We also provide evidence linking DUF1220 copy number to brain size within the human species, both in normal populations and in individuals associated with brain size pathologies (1q21-associated microcephaly and macrocephaly). While we believe these and other findings presented here strongly suggest increase in DUF1220 copy number is a key contributor to anthropoid brain expansion, the data currently available rely largely on correlative measures that, though considerable, do not yet provide direct evidence for a causal connection. Nevertheless, we believe the evidence presented is sufficient to provide the basis for a testable model which proposes that DUF1220 protein domain dosage increase is a main contributor to the increase in brain size and neuron number found among the anthropoid primate species and that is at its most extreme in human.
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