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

Dissecting phenotypic variation among AIS patients.

Minghua Wang1, Jiucun Wang, Zhen Zhang

  • 1Laboratory of Population and Quantitative Genetics, China's State Key Laboratory of Genetic Engineering, Institute of Genetics, School of Life Sciences, Morgan-Tan International Center for Life Sciences, Fudan University, Shanghai, PR China.

Biochemical and Biophysical Research Communications
|August 9, 2005
PubMed
Summary

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

Quercetin attenuates skin inflammation and fibrosis in systemic sclerosis by targeting the RELA/c-Jun axis to suppress th17 cell responses.

Frontiers in immunology·2026
Same author

Corrigendum to "Multidisciplinary exploration of ancient atherosclerosis: Paleo-genomic and paleo-nutritional analysis of a 13th century artificial mummy in China" [J. Genet. Genom. (2026) 53, 906-918].

Journal of genetics and genomics = Yi chuan xue bao·2026
Same author

High-Intensity Sports Participation Induces Itch-Associated Sensitive Skin.

Phenomics (Cham, Switzerland)·2026
Same author

Pharmacological targeting of the TLR8/AP-1 axis ameliorates scleroderma skin inflammation and fibrosis by suppressing monocyte-mediated endothelial injury.

Life sciences·2026
Same author

Copper supports regulatory T cell energetic state to sustain peripheral immune tolerance.

Science immunology·2026
Same author

Qi deficiency constitution increases risk of acute mountain sickness via reduced aerobic fitness.

Frontiers in public health·2026

Androgen insensitivity syndrome (AIS) patient cell lines reveal a specific AR mutation. This mutation affects androgen receptor function and nuclear transport, explaining varied disease severity due to genetic background.

Area of Science:

  • Genetics
  • Endocrinology
  • Molecular Biology

Background:

  • Androgen insensitivity syndrome (AIS) is a condition where individuals with a Y chromosome do not respond fully to androgens.
  • Genetic mutations in the androgen receptor (AR) gene are the primary cause of AIS.
  • Understanding how specific AR mutations lead to diverse clinical presentations is crucial for diagnosis and treatment.

Purpose of the Study:

  • To investigate the functional impact of a specific AR Arg840Cys mutation found in a Chinese family with varying AIS phenotypes.
  • To correlate cellular and molecular findings with the clinical severity of AIS in affected individuals.
  • To explore the role of genetic background in modulating the phenotype of a monogenic disorder.

Main Methods:

  • Established genital skin fibroblast cell lines from three AIS patients from a single Chinese family.

Related Experiment Videos

  • Assessed androgen-binding capacity and affinity of the mutant AR at 37°C.
  • Evaluated nuclear trafficking of the AR and its transactivity.
  • Correlated molecular and cellular data with clinical disease severity.

    • Main Results:

    • The AR Arg840Cys mutation did not impair androgen binding at 37°C but reduced affinity and potentially caused thermolability.
    • Impaired nuclear trafficking of the mutant AR strongly correlated with disease severity.
    • Mutant AR transactivity was significantly reduced, with the extent of reduction mirroring clinical symptoms.
    • Identical AR mutations resulted in different phenotypes, suggesting modulation by genetic background.

    Conclusions:

    • The AR Arg840Cys mutation affects androgen receptor function, including binding affinity, nuclear transport, and transactivity.
    • The varying severity of AIS phenotypes in this family is explained by the influence of different genetic backgrounds on the mutant AR function.
    • This study highlights the complex interplay between a specific genetic mutation and the broader genetic context in determining disease presentation.