ArticleAmerican journal of human genetics2002
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 1 of them a synthesis that pooled it.
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Who cites it
89 citing papers in PubMed, 1 synthesis or guideline pooled it, 295 citations in OpenAlex.
- Chromosome abnormalities and the genetics of congenital corneal opacification.Molecular vision · 2011Pooled it
- Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease.Endocrine reviews · 2026Review
- The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal Expression.Human mutation · 2026Article
- Diagnostic Challenges of Short Stature and Growth Hormone Insufficiency Across Different Genetic Etiologies.Biomedicines · 2025Review
- Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.Human molecular genetics · 2025Article
- Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.bioRxiv : the preprint server for biology · 2025Article
- Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development.Biology of sex differences · 2024Article
- Bayesian estimation of gene constraint from an evolutionary model with gene features.Nature genetics · 2024Article
- Bayesian estimation of gene constraint from an evolutionary model with gene features.bioRxiv : the preprint server for biology · 2024Article
- Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review.BMC medical genomics · 2024Review
- Disease-associated polyalanine expansion mutations impair UBA6-dependent ubiquitination.The EMBO journal · 2024Article
- Advances in the discovery and analyses of human tandem repeats.Emerging topics in life sciences · 2023Review
- Resequencing of the TMF-1 (TATA Element Modulatory Factor) regulated protein (TRNP1) gene in domestic and wild canids.Canine medicine and genetics · 2023Article
- A complex structural variant nearHGG advances · 2023Article
- Interplay of SOX transcription factors and microRNAs in the brain under physiological and pathological conditions.Neural regeneration research · 2022Review
- Characterization of the transcription factor Sox3 regulating the gonadal development of pearlscale angelfish (Centropyge vrolikii).Fish physiology and biochemistry · 2022Article
- Transcriptional control of human gametogenesis.Human reproduction update · 2022Article
- Transcription Factor 4 loss-of-function is associated with deficits in progenitor proliferation and cortical neuron content.Nature communications · 2022Article
- Influence of Sox protein SUMOylation on neural development and regeneration.Neural regeneration research · 2022Review
- Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene.Molecular cytogenetics · 2022Article
29 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 8 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21.3 and the Xq breakpoint near the SOX3 gene (SRY [sex determining region Y]-box 3) (GenBank accession number NM_005634) at Xq26.3. Because carrier females with microdeletion in the IL1RAPL gene do not present any abnormal phenotype, we focused on the Xq breakpoint. However, we were unable to confirm the involvement of SOX3 in the mental retardation in this female patient. To validate SOX3 as an X-linked mental retardation (XLMR) gene, we performed mutation analyses in families with XLMR whose causative gene mapped to Xq26-q27. We show here that the SOX3 gene is involved in a large family in which affected individuals have mental retardation and growth hormone deficiency. The mutation results in an in-frame duplication of 33 bp encoding for 11 alanines in a polyalanine tract of the SOX3 gene. The expression pattern during neural and pituitary development suggests that dysfunction of the SOX3 protein caused by the polyalanine expansion might disturb transcription pathways and the regulation of genes involved in cellular processes and functions required for cognitive and pituitary development.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.