ArticleThe American journal of psychiatry2019
A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism.
Article in The American journal of psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 30 citations in OpenAlex.
- 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
- Evolutionary Restructuring and Systematic Review of theJournal of developmental biology · 2026Review
- Neurodevelopment Genes Encoding Olduvai Domains Link Myalgic Encephalomyelitis to Neuropsychiatric Disorders.Diagnostics (Basel, Switzerland) · 2025Article
- Understanding the Emergence of Schizophrenia in the Light of Human Evolution: New Perspectives in Genetics.Genes, brain, and behavior · 2025Review
- Inferring DNA methylation in non-skeletal tissues of ancient specimens.Nature ecology & evolution · 2025Article
- Olduvai domain expression downregulates mitochondrial pathways: implications for human brain evolution and neoteny.bioRxiv : the preprint server for biology · 2024Article
- Characterization of large-scale genomic differences in the first complete human genome.Genome biology · 2023Article
- Proteolytic activation of human-specific Olduvai domains by the furin protease.International journal of biological macromolecules · 2023Article
- Association Study between DUF1220 Copy Number and Severity of Social Impairment in Sex-balanced Simplex Cases of Autism.Noro psikiyatri arsivi · 2023Article
- Solution NMR backbone assignments of disordered Olduvai protein domain CON1 employing Hα-detected experiments.Biomolecular NMR assignments · 2022Article
- Keeping the balance: Trade-offs between human brain evolution, autism, and schizophrenia.Frontiers in genetics · 2022Review
- Case Report: Neuroblastoma Breakpoint Family Genes Associate With 1q21 Copy Number Variation Disorders.Frontiers in genetics · 2021Article
- The Driver of Extreme Human-Specific Olduvai Repeat Expansion Remains Highly Active in the Human Genome.Genetics · 2020Article
- Solution NMR backbone assignment reveals interaction-free tumbling of human lineage-specific Olduvai protein domains.Biomolecular NMR assignments · 2019Article
- Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution.Human genetics · 2019Article
- RNAiSeq: How to See the Big Picture.Frontiers in microbiology · 2019Review
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
objectiveThe authors previously reported that the copy number of sequences encoding an Olduvai protein domain subtype (CON1) shows a linear association with the severity of social deficits and communication impairment in individuals with autism. In this study, using an improved measurement method, the authors replicated this association in an independent population.
methodThe authors obtained whole genome sequence (WGS) data and phenotype data on 215 individuals from the Autism Speaks MSSNG project. They derived copy number from WGS data using a modified sequence read-depth technique. A linear mixed-effects model was used to test the association between Olduvai CON1 copy number and symptom severity as measured by the Autism Diagnostic Interview-Revised. The authors then combined data from previous studies (N=524) for final analyses.
resultsA significant linear association was observed between CON1 copy number and social diagnostic score (SDS) (β=0.24) and communicative diagnostic score (CDS) (β=0.23). Using the combined data, the authors present strong significant associations of CON1 dosage with SDS (β=0.18) and CDS (β=0.13). The authors also implicate Olduvai subtypes found in two genes,
conclusionsThe finding of a third dose-dependent association between Olduvai sequences and autism severity, preferentially in multiplex families, provides strong evidence that this highly duplicated and underexamined protein domain family plays an important role in inherited autism.
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