ArticleScientific reports2017
Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders.
Article in Scientific reports, 2017. 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, 21 citations in OpenAlex.
- Single-Cell Gene Module Inference Reveals Alternative Polyadenylation Dynamics Associated with Autism.International journal of molecular sciences · 2026Article
- How Well Do We Understand Autistic Savant Artists: A Review of Various Hypotheses and Research Findings to Date.Journal of the Korean Academy of Child and Adolescent Psychiatry · 2023Article
- Merging morphological and genetic evidence to assess hybridization in Western Eurasian late Pleistocene hominins.Nature ecology & evolution · 2022Article
- Is Reduced Visual Processing the Price of Language?Brain sciences · 2022Article
- Evolution and dysfunction of human cognitive and social traits: A transcriptional regulation perspective.Evolutionary human sciences · 2022Review
- The Superior Visual Perception Hypothesis: Neuroaesthetics of Cave Art.Behavioral sciences (Basel, Switzerland) · 2021Article
- Evolutionary and Medical Consequences of Archaic Introgression into Modern Human Genomes.Genes · 2018Review
- Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism.Biology open · 2018Article
- Differences in the NeanderthalHereditas · 2018Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In addition to high intelligence, humans evolved specialized social-cognitive skills, which are specifically affected in children with autism spectrum disorder (ASD). Genes affected in ASD represent suitable candidates to study the evolution of human social cognition. We performed an evolutionary analysis on 68 genes associated to neurodevelopmental disorders; our data indicate that genetic diversity was shaped by distinct selective forces, including natural selection and introgression from archaic hominins. We discuss the possibility that segregation distortion during spermatogenesis accounts for a subset of ASD mutations. Finally, we detected modern-human-specific alleles in DYRK1A and TCF4. These variants are located within regions that display chromatin features typical of transcriptional enhancers in several brain areas, strongly suggesting a regulatory role. These SNPs thus represent candidates for association with neurodevelopmental disorders, and await experimental validation in future studies.
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