ArticleMolecular cell2014
The 3M complex maintains microtubule and genome integrity.
Article in Molecular cell, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed, 84 citations in OpenAlex.
- RecurIndex-derived molecular features associated with total pathological complete response in triple-negative breast cancer: An exploratory prospective cohort study with single-cell transcriptomic contextualization.Cancer biology & therapy · 2026Article
- Characterization of familial short stature with or without skeletal dysplasia in a Pakistani cohort reveals founder mutations as well as novel variants.Human genetics · 2026Article
- A Novel HomozygousClinical case reports · 2026Article
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- 3-M syndrome: evolution of the phenotype over time.Italian journal of pediatrics · 2025Review
- KIF2A stabilizes intercellular bridge microtubules to maintain mouse embryonic stem cell cytokinesis.The Journal of cell biology · 2025Article
- Functional Enrichment Analysis of Rare Mutations in Patients with Brain Arteriovenous Malformations.Biomedicines · 2025Article
- Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia.Clinical genetics · 2025Article
- Population-level allelic dispersion modeling by maelstRom yields genome-wide maps of allele-specific dysregulation during early carcinogenesis.GigaScience · 2025Article
- 3M syndrome with novelFrontiers in pediatrics · 2025Article
- Familial 3M Syndrome - as an Example of Diagnostic Difficulties in Rare Genetic Syndromes.The application of clinical genetics · 2025Article
- Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.European journal of pediatrics · 2024Article
- NovelJournal of clinical research in pediatric endocrinology · 2024Article
- Article
- Noncanonical assembly, neddylation and chimeric cullin-RING/RBR ubiquitylation by the 1.8 MDa CUL9 E3 ligase complex.Nature structural & molecular biology · 2024Article
- 3M syndrome patient with a novel mutation: A case report.World journal of clinical cases · 2024Article
- Cullin7 induces docetaxel resistance by regulating the protein level of the antiapoptotic protein Survivin in lung adenocarcinoma cells.Journal of thoracic disease · 2023Article
- Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.The Yale journal of biology and medicine · 2023Article
- Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants.Frontiers in genetics · 2023Article
- Case report: Artemis deficiency and 3M syndrome-coexistence of two distinct genetic disorders.Frontiers in pediatrics · 2023Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
Abstract
CUL7, OBSL1, and CCDC8 genes are mutated in a mutually exclusive manner in 3M and other growth retardation syndromes. The mechanism underlying the function of the three 3M genes in development is not known. We found that OBSL1 and CCDC8 form a complex with CUL7 and regulate the level and centrosomal localization of CUL7, respectively. CUL7 depletion results in altered microtubule dynamics, prometaphase arrest, tetraploidy, and mitotic cell death. These defects are recaptured in CUL7 mutated 3M cells and can be rescued by wild-type, but not by 3M patient-derived CUL7 mutants. Depletion of either OBSL1 or CCDC8 results in defects and sensitizes cells to microtubule damage similarly to loss of CUL7 function. Microtubule damage reduces the level of CCDC8 that is required for the centrosomal localization of CUL7. We propose that CUL7, OBSL1, and CCDC8 proteins form a 3M complex that functions in maintaining microtubule and genome integrity and normal development.
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Registered trials
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.