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

ATRX and sex differentiation.

Paisu Tang1, Daniel J Park, Jennifer A Marshall Graves

  • 1Department of Zoology, The University of Melbourne, Victoria 3010, Australia.

Trends in Endocrinology and Metabolism: TEM
|September 8, 2004
PubMed
Summary

Mutations in the alpha-thalassemia, mental retardation, X-linked (ATRX) gene cause sexual development abnormalities. ATRX protein is implicated in chromatin remodeling and mammalian sex differentiation.

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

DNA methylation mediates the multiple sclerosis onset risk associated with HHV-6 DNA positivity.

Environmental epigenetics·2026
Same author

Sry-modified laboratory rat lines to study sex-chromosome effects underlying sex differences in physiology and disease: Four Core Genotypes and more.

Biology of sex differences·2026
Same author

Sex chromosome dosage compensation in a sex reversing skink is not influenced by sexual phenotype.

BMC genomics·2025
Same author

Real-time, multi-pathogen wastewater genomic surveillance with Freyja 2.

medRxiv : the preprint server for health sciences·2025
Same author

A systematic review and meta-analysis on gene-environment interaction effects on the associations of vitamin D and sun exposure with multiple sclerosis risk.

Multiple sclerosis and related disorders·2025
Same author

Publisher Correction: Ultra-high gradient connectomics and microstructure MRI scanner for imaging of human brain circuits across scales.

Nature biomedical engineering·2025

Area of Science:

  • Genetics
  • Developmental Biology
  • Endocrinology

Background:

  • The alpha-thalassemia, mental retardation, X-linked (ATRX) gene is primarily studied for its roles in brain development and globin regulation.
  • Mutations in ATRX are increasingly recognized to cause a spectrum of gonadal and urogenital abnormalities in XY individuals, including testicular dysgenesis and ambiguous genitalia.
  • The precise biochemical function of the ATRX protein, despite its large size, remains largely unknown, hindering a full understanding of its role in mammalian sexual development.

Purpose of the Study:

  • To review the current understanding of the ATRX protein's function.
  • To explore the emerging evidence linking ATRX to chromatin remodeling.
  • To discuss the role of ATRX in mammalian sex differentiation.

Main Methods:

Related Experiment Videos

  • Literature review of existing studies on ATRX.
  • Analysis of genetic and clinical data related to ATRX mutations.
  • Synthesis of evidence implicating ATRX in chromatin remodeling pathways.

Main Results:

  • ATRX mutations are associated with significant variations in sexual development, ranging from minor testicular size differences to complete genital ambiguity.
  • Emerging research suggests ATRX functions as a chromatin remodeler, a process critical for gene regulation.
  • This chromatin remodeling role is hypothesized to be central to its function in mammalian sex differentiation.

Conclusions:

  • The ATRX gene plays a critical, yet underappreciated, role in mammalian sexual development.
  • Understanding ATRX as a chromatin remodeling protein is key to elucidating its function in sex differentiation.
  • Further research into ATRX is warranted to fully comprehend its impact on urogenital development and related disorders.