ReviewGenome biology and evolution2018
Human Accelerated Regions and Other Human-Specific Sequence Variations in the Context of Evolution and Their Relevance for Brain Development.
Review in Genome biology and evolution, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 110 citations in OpenAlex.
- A Systematic Review of the Human Accelerated Regions in Schizophrenia and Related Disorders: Where the Evolutionary and Neurodevelopmental Hypotheses Converge.International journal of molecular sciences · 2023Pooled it
- Positive selection on brain cis-regulatory elements in the human lineage drives changes in gene expression and susceptibility to neuropsychiatric disorders.HGG advances · 2026Article
- Article
- Gene expression dynamics of human and mouse craniofacial development at the single-cell level.Nature communications · 2026Article
- MOKA: a pipeline for multiomics bridged SNP-set kernel association test.G3 (Bethesda, Md.) · 2026Article
- Neurodevelopmentally rooted epicenters in schizophrenia: sensorimotor-association spatial axis of cortical thickness alterations.Molecular psychiatry · 2026Article
- An integrative multitiered computational analysis for better understanding the structure and function of 85 miniproteins.NAR genomics and bioinformatics · 2025Article
- An ancient enhancer rapidly evolving in the human lineage promotes neural development and cognitive flexibility.Science advances · 2025Article
- A dyad of human-specificScience advances · 2025Article
- Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk.bioRxiv : the preprint server for biology · 2025Article
- Nanopore-based random genomic sampling for intraoperative molecular diagnosis.Genome medicine · 2025Article
- Comparative Genomics of the World's Smallest Mammals Reveals Links to Echolocation, Metabolism, and Body Size Plasticity.Genome biology and evolution · 2024Article
- Frontotemporal lobar degeneration targets brain regions linked to expression of recently evolved genes.Brain : a journal of neurology · 2024Article
- Accelerated evolution in the human lineage led to gain and loss of transcriptional enhancers in theScience advances · 2024Article
- Detection of evolutionary conserved and accelerated genomic regions related to adaptation to thermal niches inEcology and evolution · 2024Article
- Brain Evolution in the Times of the Pandemic and Multimedia.European neurology · 2024Review
- Neurogenesis in primates versus rodents and the value of non-human primate models.National science review · 2023Review
- FTLD targets brain regions expressing recently evolved genes.medRxiv : the preprint server for health sciences · 2023Article
- The temporal balance between self-renewal and differentiation of human neural stem cells requires the amyloid precursor protein.Science advances · 2023Article
- Evolutionarily recent retrotransposons contribute to schizophrenia.Translational psychiatry · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The review discusses, in a format of a timeline, the studies of different types of genetic variants, present in Homo sapiens, but absent in all other primate, mammalian, or vertebrate species, tested so far. The main characteristic of these variants is that they are found in regions of high evolutionary conservation. These sequence variations include single nucleotide substitutions (called human accelerated regions), deletions, and segmental duplications. The rationale for finding such variations in the human genome is that they could be responsible for traits, specific to our species, of which the human brain is the most remarkable. As became obvious, the vast majority of human-specific single nucleotide substitutions are found in noncoding, likely regulatory regions. A number of genes, associated with these human-specific alleles, often through novel enhancer activity, were in fact shown to be implicated in human-specific development of certain brain areas, including the prefrontal cortex. Human-specific deletions may remove regulatory sequences, such as enhancers. Segmental duplications, because of their large size, create new coding sequences, like new functional paralogs. Further functional study of these variants will shed light on evolution of our species, as well as on the etiology of neurodevelopmental disorders.
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Registered trials
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.