ArticleProceedings of the National Academy of Sciences of the United States of America2002
X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 51 citations in OpenAlex.
- Detection of protein structural hotspots using AI distillation and explainability: application to the DAX-1 protein.NAR genomics and bioinformatics · 2025Article
- Inhibition of NR5A1 Phosphorylation Alleviates a Transcriptional Suppression Defect Caused by a NovelJournal of the Endocrine Society · 2022Article
- A natural allele of OsMS1 responds to temperature changes and confers thermosensitive genic male sterility.Nature communications · 2022Article
- Methodological pitfalls in the study of DAX-1 function.Cell death & disease · 2014Article
- Hypogonadotropic hypogonadism in subjects with DAX1 mutations.Molecular and cellular endocrinology · 2011Review
- Two novel DAX1 gene mutations in Chinese patients with X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis.Journal of endocrinological investigation · 2011Article
- Development and function of the human fetal adrenal cortex: a key component in the feto-placental unit.Endocrine reviews · 2011Review
- A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita.European journal of pediatrics · 2009Article
- The structure of corepressor Dax-1 bound to its target nuclear receptor LRH-1.Proceedings of the National Academy of Sciences of the United States of America · 2008Article
- A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.Hormone research · 2007Article
- Heat shock affects trafficking of DAX-1 by inducing its rapid and reversible cytoplasmic localization.Endocrine · 2005Article
- LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1 (NR0B1)-DAX1A heterodimerization.Molecular genetics and metabolismArticle
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the DAX-1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome; NR0B1] gene cause X-linked AHC associated with hypogonadotropic hypogonadism. DAX-1 encodes an unusual orphan member of the nuclear hormone receptor superfamily, acting as a transcriptional repressor of genes involved in the steroidogenic pathway. All DAX-1 mutations found in AHC patients alter the protein C terminus, which shares similarity to the ligand binding domain of nuclear hormone receptors and bears transcriptional repressor activity. This property is invariably impaired in DAX-1 AHC mutants. Here we show that the localization of DAX-1 AHC mutant proteins is drastically shifted toward the cytoplasm, even if their nuclear localization signal, which resides in the N terminal of the protein, is intact. Cytoplasmic localization of DAX-1 AHC mutants correlates with an impairment in their transcriptional repression activity. These results reveal a critical role of an intact C terminus in determining DAX-1 subcellular localization and constitute an important example of a defect in human organogenesis caused by impaired nuclear localization of a transcription factor.
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