ArticleNature communications2019
Mutations in topoisomerase IIβ result in a B cell immunodeficiency.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
What it found
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Who cites it
32 citing papers in PubMed, 56 citations in OpenAlex.
- Topoisomerase-mediated resolution of negative DNA supercoiling sustains human transcription and gene activation.bioRxiv : the preprint server for biology · 2026Article
- Analysis of gene expression changes upon topobexin treatment and TOP2B-knockout in hiPSC-derived cardiomyocytes.Biology open · 2026Article
- Deletion of TOP2B promoter using CRISPR-Cas9 induces senescence in HEK 293T cells.Biochemistry and biophysics reports · 2026Article
- Bidirectional genetic and phenotypic links between smoking and striatal iron content involving dopaminergic and inflammatory pathways.Addiction (Abingdon, England) · 2026Article
- Genome-wide DNA supercoiling arises from transcription and SMC activity and mediates transcriptional negative feedback.bioRxiv : the preprint server for biology · 2026Article
- Human genetic influences on early B cell development.Journal of human immunity · 2025Review
- Review
- TOP2B is required for compartment strength changes upon retinoic acid treatment in SH-SY5Y cells.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025Article
- Topoisomerase 1 is required for the development and function of thymus.Journal of immunology (Baltimore, Md. : 1950) · 2025Article
- Infantile epileptic spasms syndrome as a new phenotype in TOP2B deficiency caused by aFrontiers in pediatrics · 2025Article
- Report of one case with de novo mutation in TLK2 and literature review.BMC pediatrics · 2024Review
- Structural insights into the assembly of type IIA topoisomerase DNA cleavage-religation center.Nucleic acids research · 2024Article
- To Break or Not to Break: The Role of TOP2B in Transcription.International journal of molecular sciences · 2023Review
- Inborn errors of human B cell development, differentiation, and function.The Journal of experimental medicine · 2023Review
- Topoisomerases in Immune Cell Development and Function.Journal of immunology (Baltimore, Md. : 1950) · 2023Review
- Disease-associated H58Y mutation affects the nuclear dynamics of human DNA topoisomerase IIβ.Scientific reports · 2022Article
- Untangling the roles of TOP2A and TOP2B in transcription and cancer.Science advances · 2022Review
- TOP2B Is Required to Maintain the Adrenergic Neural Phenotype and for ATRA-Induced Differentiation of SH-SY5Y Neuroblastoma Cells.Molecular neurobiology · 2022Article
- A comprehensive structural analysis of the ATPase domain of human DNA topoisomerase II beta bound to AMPPNP, ADP, and the bisdioxopiperazine, ICRF193.Structure (London, England : 1993) · 2022Article
- Human topoisomerases and their roles in genome stability and organization.Nature reviews. Molecular cell biology · 2022Review
Corrections and comments
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Authors and funding
23 authors at 10 institutions in 5 countries.
Funding
Abstract
B cell development is a highly regulated process involving multiple differentiation steps, yet many details regarding this pathway remain unknown. Sequencing of patients with B cell-restricted immunodeficiency reveals autosomal dominant mutations in TOP2B. TOP2B encodes a type II topoisomerase, an essential gene required to alleviate topological stress during DNA replication and gene transcription, with no previously known role in B cell development. We use Saccharomyces cerevisiae, and knockin and knockout murine models, to demonstrate that patient mutations in TOP2B have a dominant negative effect on enzyme function, resulting in defective proliferation, survival of B-2 cells, causing a block in B cell development, and impair humoral function in response to immunization.
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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.