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Locus: At the Crossroads of Human Behavioral Disorders and Domestication of Animals.

International journal of molecular sciences2025

Shepelev Mikhail V, Skobel Olga I, Glazko Tatiana T, Popov Dmitry V, Vysotskii Denis E, Georgiev Pavel G, Maksimenko Oksana G, Kosovsky Gleb Y, Silaeva Yuliya Y

What this study means for families

This review looks at a specific region of genetic code that affects how social we are. When parts of this region are deleted, people develop Williams-Beuren syndrome and become very friendly. When parts are duplicated, people may develop autism. The same genetic region also affects how animals become domesticated and social with humans. Researchers are studying specific genes in this region to understand autism better.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Research summary

This review examines the Williams-Beuren syndrome control region (WBSCR) locus and its role in social behavior across mammals. The authors discuss how large chromosomal deletions in this region cause Williams-Beuren syndrome (characterized by hypersociability), while duplications lead to autism spectrum disorder. The review explores parallels between genetic mechanisms underlying animal domestication and human neurobehavioral disorders, highlighting several candidate genes including GTF2I, BAZ1B, and CLIP2. The authors particularly focus on the poorly characterized WBSCR22 gene as a potential contributor to ASD symptoms and social behavior regulation, discussing 3D genome alterations in this region and proposing future research directions for understanding central nervous system functions.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Key findings

  • 1

    Large chromosomal deletions in the WBSCR locus cause Williams-Beuren syndrome with hypersociability, while duplications lead to autism spectrum disorder

    Confidence: moderateRelevance: Provides genetic insight into opposing social phenotypes in neurodevelopmental conditions
  • 2

    The WBSCR locus contains genes that regulate social behavior in both humans and domesticated animals

    Confidence: moderateRelevance: Suggests shared genetic mechanisms underlying social behavior across mammals
  • 3

    WBSCR22 gene is identified as a poorly characterized potential contributor to ASD symptoms

    Confidence: emergingRelevance: May represent a novel target for autism research and intervention development

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Clinical implications

The identification of specific genetic regions and genes associated with social behavior disorders may inform genetic counseling and future therapeutic targets. Understanding the relationship between gene dosage and social phenotypes could help predict clinical presentations and guide personalized interventions for individuals with chromosomal alterations in the WBSCR region.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Limitations

This is a review article without original data. The role of WBSCR22 in autism is described as poorly characterized, indicating limited empirical evidence. No sample sizes or specific study methodologies are reported.

Summary by AutismInsights from published abstract. This is not a substitute for reading the original paper.

Original abstract

Social interaction between the domesticated animal and the domesticator is one of the key features of the "domestication syndrome". Recent research has identified genes in the(Williams-Beuren syndrome control region) locus as significant contributors to social behavior in dogs. Large chromosomal deletions and duplications in the humanlocus lead to the development of WBS (Williams-Beuren syndrome) andduplication syndrome, respectively. Hypersociability is one of the key symptoms of WBS, while the duplication syndrome is manifested as an autism spectrum disorder (ASD).

The data from both humans and dogs highlight thelocus as one of the key genetic determinants of social behavior in mammals. Several genes in theare candidates for the regulation of social behavior in mammals including,,and. Here, we discuss the role oflocus in the regulation of social behavior in mammals including the recent data that highlight the importance of 3D genome alterations in this genomic region for both domestication of animals and development of neurobehavioral disorders in humans. In addition, we bring attention to the role of the poorly characterizedgene as a putative player in the development of ASD symptoms and in the regulation of social behavior in animals.

We provide a brief summary of its known functions and propose the future research directions aimed at the elucidation ofinvolvement in the regulation of central nervous system (CNS) functions.

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Evidence Grade

Emerging

emerging

Grade assigned by AutismInsights based on study type and published abstract.

Study Details

Type
Review
Journal
International journal of molecular sciences
Year
2025
PMID
40943469
DOI
10.3390/ijms26178549

MeSH Terms

AnimalsHumansDomesticationDogsAnimals, DomesticAutism Spectrum DisorderGenetic LociSocial Behavior