ArticleGenes & development2016
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
Article in Genes & development, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 91 papers.
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Who cites it
91 citing papers in PubMed, 149 citations in OpenAlex.
- Condensin complexes: from chromatin organization to disease.Nucleus (Austin, Tex.) · 2026Review
- Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project.European journal of human genetics : EJHG · 2026Article
- Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.Nature genetics · 2026Article
- Condensins regulate resection-dependent DNA double-strand break repair pathways in replicated chromatin.Nucleic acids research · 2026Article
- A phospho-switch to trigger mitotic chromosome condensation.Biology direct · 2026Article
- DNA actively regulates the "safety-belt" dynamics of condensin during loop extrusion.Nature communications · 2026Article
- Characterization of Lysine Methylation During Neuronal Differentiation of LUHMES cells.bioRxiv : the preprint server for biology · 2026Article
- Roles of Srs2/PARI-family DNA helicases in NoCut checkpoint signaling and abscission regulation.The Journal of cell biology · 2025Article
- Review
- Common and rare variant genetic contributions in African Americans with autism.medRxiv : the preprint server for health sciences · 2025Article
- Domain specific phenotypic expansion associated with variants inmedRxiv : the preprint server for health sciences · 2025Article
- Condensin II interacts with BLM helicase in S phase to maintain genome stability.Communications biology · 2025Article
- Article
- Review
- NCAPD3 promotes diffuse large B-cell lymphoma progression through modulating SIRT1 expression in an H3K9 monomethylation-dependent manner.Journal of advanced research · 2025Article
- NCAPD3-mediated AKT activation regulates prostate cancer progression.FASEB bioAdvances · 2025Article
- Structural Maintenance of Chromosomes Complexes.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Integrated analysis and experimental validation of E2F2 as a potential prognostic biomarker and its oncogenic roles in serous ovarian cancer.Frontiers in molecular biosciences · 2025Article
- Positive Selection Drives the Evolution of the Structural Maintenance of Chromosomes (SMC) Complexes.Genes · 2024Article
- 3D epigenomics and 3D epigenopathies.BMB reports · 2024Review
31 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
24 authors at 10 institutions in 5 countries.
Funding
Abstract
Compaction of chromosomes is essential for accurate segregation of the genome during mitosis. In vertebrates, two condensin complexes ensure timely chromosome condensation, sister chromatid disentanglement, and maintenance of mitotic chromosome structure. Here, we report that biallelic mutations in NCAPD2, NCAPH, or NCAPD3, encoding subunits of these complexes, cause microcephaly. In addition, hypomorphic Ncaph2 mice have significantly reduced brain size, with frequent anaphase chromatin bridge formation observed in apical neural progenitors during neurogenesis. Such DNA bridges also arise in condensin-deficient patient cells, where they are the consequence of failed sister chromatid disentanglement during chromosome compaction. This results in chromosome segregation errors, leading to micronucleus formation and increased aneuploidy in daughter cells. These findings establish "condensinopathies" as microcephalic disorders, with decatenation failure as an additional disease mechanism for microcephaly, implicating mitotic chromosome condensation as a key process ensuring mammalian cerebral cortex size.
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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.