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

DAX1 mutations map to putative structural domains in a deduced three-dimensional model

Y H Zhang1, W Guo, R L Wagner

  • 1Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA, USA.

American Journal of Human Genetics
|June 13, 1998
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

Impact of prenatal sirolimus on cardiac rhabdomyomas and brain tubers.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2026
Same author

[A case of neurodevelopmental disorder with refractory epilepsy caused by GRIA2 gene variant].

Zhonghua er ke za zhi = Chinese journal of pediatrics·2022
Same author

Increased Vδ1γδT cells predominantly contributed to IL-17 production in the development of adult human post-infectious irritable bowel syndrome.

BMC gastroenterology·2021
Same author

Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders.

AJNR. American journal of neuroradiology·2020
Same author

Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2020
Same author

Short- and long-term outcome following thoracoamniotic shunting for fetal hydrothorax.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2020
Same journal

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

American journal of human genetics·2026
Same journal

Bi-allelic missense variants in human GPN2 result in Perrault syndrome.

American journal of human genetics·2026
Same journal

Integrative analysis of gastric tissue transcriptomes and gastric cancer GWAS implicates candidate susceptibility genes.

American journal of human genetics·2026
Same journal

A transparent and generalizable deep-learning framework for genomic ancestry prediction.

American journal of human genetics·2026
Same journal

Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome.

American journal of human genetics·2026
Same journal

Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans.

American journal of human genetics·2026
See all related articles
This summary is machine-generated.

This study identifies new DAX1 mutations causing X-linked adrenal hypoplasia congenita (AHC). Most mutations are frameshift or nonsense, impacting DAX1 protein structure and function.

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • DAX1 is an orphan nuclear hormone receptor implicated in adrenal development.
  • Mutations in the DAX1 gene cause X-linked adrenal hypoplasia congenita (AHC).

Purpose of the Study:

  • To identify novel DAX1 mutations in families with AHC.
  • To characterize the types of mutations leading to AHC.
  • To analyze the structural impact of single-amino-acid changes in DAX1.

Main Methods:

  • Genetic analysis of 17 families with AHC.
  • Mutation identification including frameshift, nonsense, missense, and deletion.
  • Homology modeling of the DAX1 protein structure.

Main Results:

Related Experiment Videos

  • 14 new DAX1 mutations were identified, bringing the total reported to 42.
  • Frameshift and nonsense mutations were the most common types.
  • Seven single-amino-acid changes were mapped to the ligand-binding domain's hydrophobic core.

Conclusions:

  • DAX1 mutations, predominantly frameshift and nonsense, are the primary cause of AHC.
  • Missense mutations and codon deletions offer insights into DAX1 structure and function.
  • Further structural analysis is needed to fully understand DAX1's role.