ArticleAmerican journal of human genetics2007
CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.
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Who cites it
63 citing papers in PubMed, 129 citations in OpenAlex.
- Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis.Nature communications · 2026Article
- No Evidence for an Association Between DIP2B Repeat Expansion and Neurological Disease.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Population-scale disease-associated tandem repeat analysis reveals locus and ancestry-specific insights.Nature communications · 2026Article
- DIP2B as a Prognostic Biomarker and Immunotherapy Target: Insights from Pan-Cancer Analysis.Applied biochemistry and biotechnology · 2026Article
- Single-base mJournal of virology · 2025Article
- Review
- Transcriptomic profiling ofComputational and structural biotechnology journal · 2024Article
- Dopey-dependent regulation of extracellular vesicles maintains neuronal morphology.Current biology : CB · 2024Article
- A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.Nature genetics · 2024Article
- Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.Nature communications · 2024Article
- Dopey-dependent regulation of extracellular vesicles maintains neuronal morphology.bioRxiv : the preprint server for biology · 2024Article
- Article
- Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions.Emerging topics in life sciences · 2023Review
- Loss of Dip2b leads to abnormal neural differentiation from mESCs.Stem cell research & therapy · 2023Article
- Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.Nature communications · 2023Article
- Transcriptome and Genome Analysis Uncovers aNeurology. Genetics · 2023Article
- Integrated pancancer analysis reveals the oncogene characteristics and prognostic value of DIP2B in breast cancer.BMC cancer · 2023Article
- Bisphenol A replacement chemicals, BPF and BPS, induce protumorigenic changes in human mammary gland organoid morphology and proteome.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Review
- Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences.Genome research · 2022Review
3 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
Abstract
A high level of cytogenetic expression of the rare folate-sensitive fragile site FRA12A is significantly associated with mental retardation. Here, we identify an elongated polymorphic CGG repeat as the molecular basis of FRA12A. This repeat is in the 5' untranslated region of the gene DIP2B, which encodes a protein with a DMAP1-binding domain, which suggests a role in DNA methylation machinery. DIP2B mRNA levels were halved in two subjects with FRA12A with mental retardation in whom the repeat expansion was methylated. In two individuals without mental retardation but with an expanded and methylated repeat, DIP2B expression was reduced to approximately two-thirds of the values observed in controls. Interestingly, a carrier of an unmethylated CGG-repeat expansion showed increased levels of DIP2B mRNA, which suggests that the repeat elongation increases gene expression, as previously described for the fragile X-associated tremor/ataxia syndrome. These data suggest that deficiency of DIP2B, a brain-expressed gene, may mediate the neurocognitive problems associated with FRA12A.
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