Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

FOXP2: novel exons, splice variants, and CAG repeat length stability.

Heather A Bruce1, Russell L Margolis

  • 1Laboratory of Genetic Neurobiology, Division of Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

Human Genetics
|August 22, 2002
PubMed
Summary

Researchers investigated the FOXP2 gene, crucial for speech and language, and found new exons and splice variants. This expands our understanding of FOXP2's genomic structure and potential role in neuropsychiatric disorders.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Clozapine facilitates sustained improvement in psychotic symptoms with a subsequent cascade of effects on functioning and quality of life.

Journal of psychiatric research·2026
Same author

NPAS3-regulated astrocyte mitochondrial bioenergetics is required for cognition.

Science advances·2026
Same author

Dual targeting of inhibitory EGFR epitopes with synthetic antibodies in therapeutic-resistant cancers.

Protein science : a publication of the Protein Society·2026
Same author

Persistent Negative Symptoms: Characterization of an Unmet Need in a Learning Health System for First-Episode Psychosis.

Schizophrenia bulletin·2026
Same author

Qualitative analysis of long-term clozapine adherence in schizophrenia: An exploratory study.

Psychiatry research·2026
Same author

BlueNuclei: automated identification and classification of live and dead transfected neurons using interpretable features.

bioRxiv : the preprint server for biology·2026

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • The FOXP2 gene encodes a transcription factor with known roles in speech and language.
  • Mutations in FOXP2 have been linked to speech and language disorders (SPCH1).
  • The potential involvement of FOXP2 in other neuropsychiatric disorders warrants further investigation.

Purpose of the Study:

  • To examine the genomic structure of the FOXP2 gene.
  • To investigate the CAG/CAA repeat region of FOXP2 for polymorphisms and expansions.
  • To identify novel exons and splice variants of FOXP2.

Main Methods:

  • Analysis of the genomic structure of FOXP2.
  • Examination of the CAG/CAA repeat region in 142 individuals with movement disorders.

Related Experiment Videos

  • Identification of alternate splice variants and novel exons through genomic analysis.

    • Main Results:

    • No significant polymorphisms or expansions were found in the FOXP2 CAG/CAA repeat region in individuals with movement disorders.
    • Evidence of alternate splice variants and six previously undetected FOXP2 exons was identified.
    • The FOXP2 gene spans at least 603 kb, significantly larger than previously defined.
    • A promoter region flanking the novel exon s1 was detected.
    • A longer version of exon 10 (10+) was found, leading to a truncated protein (FOXP2-S).

    Conclusions:

    • The study reveals a more extensive genomic structure for FOXP2 than previously understood.
    • The identification of new exons and splice variants provides a foundation for understanding FOXP2 function.
    • These findings facilitate the search for additional FOXP2 mutations potentially linked to neuropsychiatric conditions.