ArticleNature genetics2015
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers.
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Who cites it
87 citing papers in PubMed, 146 citations in OpenAlex.
- Cohesin preservation across mitosis contributes to restart transcription via Cdk9-mediated activation of RNAPol2.Molecular cell · 2026Article
- AFF4 Loss Compromises Osteogenesis of Orofacial Mesenchymal Stem Cells During Alveolar Bone Repair via AMPK-Mediated Mitophagy.Cell proliferation · 2026Article
- Dental and Dentofacial Findings in a Child With CHOPS Syndrome Managed Under General Anesthesia.International journal of paediatric dentistry · 2026Article
- Cohesin acts as a transcriptional gatekeeper by restraining pause-release to promote processive elongation.Nature communications · 2026Article
- Variant characterization in the intrinsically disordered human proteome.Nature structural & molecular biology · 2026Article
- The genetics of obesity: aetiology, prevention and therapy.Nature metabolism · 2026Review
- CHOPS Syndrome: A Rare Malformation Syndrome with de novo AFF4 Gene Variant.Molecular syndromology · 2026Article
- Phosphoproteomics of aged insulin-resistant bone identifies P70S6K phosphorylation of AFF4 as a gene-specific transcriptional regulator.Nature communications · 2025Article
- MeCP2 interacts with the super elongation complex to regulate transcription.Science advances · 2025Article
- Non-Classic Cornelia de Lange Syndrome Due toChildren (Basel, Switzerland) · 2025Review
- Linking Genotype to Clinical Features inGenes · 2025Review
- Identification of a novelIntractable & rare diseases research · 2025Article
- Cohesin in 3D: development, differentiation, and disease.Genes & development · 2025Review
- Latitude-driven adaptive evolution of body length in diverse pig breeds across China.BMC biology · 2025Article
- Article
- Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.Human mutation · 2025Article
- Exploring Cohesin-Related Multiomics Information in the Web Browser.Methods in molecular biology (Clifton, N.J.) · 2025Article
- A new pipeline SPICE identifies novel JUN-IKZF1 composite elements.bioRxiv : the preprint server for biology · 2024Article
- Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.Genome medicine · 2024Article
- Rapid P-TEFb-dependent transcriptional reorganization underpins the glioma adaptive response to radiotherapy.Nature communications · 2024Article
27 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
22 authors at 7 institutions in 2 countries.
Funding
Abstract
Transcriptional elongation is critical for gene expression regulation during embryogenesis. The super elongation complex (SEC) governs this process by mobilizing paused RNA polymerase II (RNAP2). Using exome sequencing, we discovered missense mutations in AFF4, a core component of the SEC, in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that we have named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia). Transcriptome and chromatin immunoprecipitation sequencing (ChIP-seq) analyses demonstrated similar alterations of genome-wide binding of AFF4, cohesin and RNAP2 in CdLS and CHOPS syndrome. Direct molecular interaction of the SEC, cohesin and RNAP2 was demonstrated. These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin.
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