ArticleAmerican journal of human genetics2014
Genome-wide identification and characterization of fixed human-specific regulatory regions.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.Nature genetics · 2021Article
- Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells.Molecular autism · 2020Review
- Novel Bioinformatics Approach Identifies Transcriptional Profiles of Lineage-Specific Transposable Elements at Distinct Loci in the Human Dorsolateral Prefrontal Cortex.Molecular biology and evolution · 2018Article
- Contribution of transposable elements and distal enhancers to evolution of human-specific features of interphase chromatin architecture in embryonic stem cells.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2018Article
- Evolutionary Rewiring of Human Regulatory Networks by Waves of Genome Expansion.American journal of human genetics · 2018Article
- Transposable elements are the primary source of novelty in primate gene regulation.Genome research · 2017Article
- Lung function associated gene Integrator Complex subunit 12 regulates protein synthesis pathways.BMC genomics · 2017Article
- Mechanistically Distinct Pathways of Divergent Regulatory DNA Creation Contribute to Evolution of Human-Specific Genomic Regulatory Networks Driving Phenotypic Divergence of Homo sapiens.Genome biology and evolution · 2016Article
- Functional test of PCDHB11, the most human-specific neuronal surface protein.BMC evolutionary biology · 2016Article
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Authors and funding
4 authors.
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Abstract
Changes in gene regulatory networks are believed to have played an important role in the development of human-specific anatomy and behavior. We identified the human genome regions that show the typical chromatin marks of regulatory regions but cannot be aligned to other mammalian genomes. Most of these regions have become fixed in the human genome. Their regulatory targets are enriched in genes involved in neural processes, CNS development, and diseases such as autism, depression, and schizophrenia. Specific transposable elements contributing to the rewiring of the human regulatory network can be identified by the creation of human-specific regulatory regions. Our results confirm the relevance of regulatory evolution in the emergence of human traits and cognitive abilities and the importance of newly acquired genomic elements for such evolution.
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