ArticleHuman genetics2015
Replicated linear association between DUF1220 copy number and severity of social impairment in autism.
Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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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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Who cites it
20 citing papers in PubMed, 27 citations in OpenAlex.
- Olduvai Domains Downregulate Mitochondrial Pathways to Promote Human Brain Evolution and Neoteny.Research square · 2026Article
- 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
- 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
- Selection of Olduvai Domains during Evolution: A Role for Primate-Specific Splicing Super-Enhancer and RNA Guanine Quadruplex in BipartiteBrain sciences · 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
- A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism.The American journal of psychiatry · 2019Article
- Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution.Human genetics · 2019Article
- 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
- Changing the name of the NBPF/DUF1220 domain to the Olduvai domain.F1000Research · 2017Article
- DUF1220 copy number is associated with schizophrenia risk and severity: implications for understanding autism and schizophrenia as related diseases.Translational psychiatry · 2015Article
- Global diversity, population stratification, and selection of human copy-number variation.Science (New York, N.Y.) · 2015Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Sequences encoding DUF1220 protein domains exhibit an exceptional human-specific increase in copy number and have been associated with several phenotypes related to brain size. Autism is a highly heritable and heterogeneous condition characterized behaviorally by social and communicative impairments, and increased repetitive and stereotyped behavior. Given the accelerated brain growth pattern observed in many individuals with autism, and the association between DUF1220 subtype CON1 copy number and brain size, we previously investigated associations between CON1 copy number and autism-related symptoms. We determined that CON1 copy number increase is associated with increasing severity of all three behavioral features of autism. The present study sought to replicate these findings in an independent population (N = 166). Our results demonstrate a replication of the linear relationship between CON1 copy number and the severity of social impairment in individuals with autism as measured by Autism Diagnostic Interview-Revised Social Diagnostic Score, such that with each additional copy of CON1 Social Diagnostic Score increased 0.24 points (SE = 0.11, p = 0.036). We also identified an analogous trend between CON1 copy number and Communicative Diagnostic Score, but did not replicate the relationship between CON1 copy number and Repetitive Behavior Diagnostic Score. Interestingly, these associations appear to be most pronounced in multiplex children. These results, representing the first replication of a gene dosage relationship with the severity of a primary symptom of autism, lend further support to the possibility that the same protein domain family implicated in the evolutionary expansion of the human brain may also be involved in autism severity.
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