ArticleMolecular and cellular biology2000
Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex.
Article in Molecular and cellular biology, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 36 citations in OpenAlex.
- Structural basis of nucleosome binding and destabilization by the extended DNA binding domain of RFX5.Nucleic acids research · 2025Article
- Progressive Ataxia and Neurologic Regression inNeurology. Genetics · 2021Article
- ELF3 activated by a superenhancer and an autoregulatory feedback loop is required for high-level HLA-C expression on extravillous trophoblasts.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Kaposi's Sarcoma-Associated Herpesvirus Latency-Associated Nuclear Antigen Inhibits Major Histocompatibility Complex Class II Expression by Disrupting Enhanceosome Assembly through Binding with the Regulatory Factor X Complex.Journal of virology · 2015Article
- Solution structure of the heterotrimeric complex between the interaction domains of RFX5 and RFXAP from the RFX gene regulatory complex.Journal of molecular biology · 2010Article
- Inhibition of proteasome activity impairs centrosome-dependent microtubule nucleation and organization.Molecular biology of the cell · 2008Article
- New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study.Molecular and cellular biology · 2005Article
- Collagen alpha1(I) gene (COL1A1) is repressed by RFX family.The Journal of biological chemistry · 2005Article
- Evolutionary conservation and characterization of the bare lymphocyte syndrome transcription factor RFX-B and its paralogue ANKRA2.Immunogenetics · 2005Article
- Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course.Immunogenetics · 2003Article
- Different levels of control prevent interferon-gamma-inducible HLA-class II expression in human neuroblastoma cells.Oncogene · 2003Article
- Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.Immunogenetics · 2003Article
- Phosphorylation of CIITA directs its oligomerization, accumulation and increased activity on MHCII promoters.The EMBO journal · 2002Article
- Major histocompatibility complex class II transcriptional platform: assembly of nuclear factor Y and regulatory factor X (RFX) on DNA requires RFX5 dimers.Molecular and cellular biology · 2002Article
- Promoter-specific functions of CIITA and the MHC class II enhanceosome in transcriptional activation.The EMBO journal · 2002Article
- A 36-amino-acid region of CIITA is an effective inhibitor of CBP: novel mechanism of gamma interferon-mediated suppression of collagen alpha(2)(I) and other promoters.Molecular and cellular biology · 2001Article
- Expression of the three human major histocompatibility complex class II isotypes exhibits a differential dependence on the transcription factor RFXAP.Molecular and cellular biology · 2001Article
- Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome.Molecular and cellular biology · 2001Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The regulatory factor X (RFX) complex, which contains RFXANK(B), RFXAP, and RFX5, binds to X and S boxes in major histocompatibility complex class II (MHC II) promoters. In the bare lymphocyte syndrome (BLS), which is a human severe combined immunodeficiency, MHC II promoters are neither occupied nor transcribed. Thus, the absence of any one subunit prevents the formation of the RFX complex. Nevertheless, except for a weak binding between RFX5 and RFXAP, no other interactions between RFX proteins have been described. In this study, we demonstrate that RFXANK(B) binds to RFXAP to form a scaffold for the assembly of the RFX complex, which then binds to DNA. Moreover, mutant RFXANK(B) and RFXAP proteins from complementation groups B and D of BLS, respectively, cannot support this interaction. Our data elucidate an intriguing medical situation, where a genetic disease targets two different surfaces that are required for the nucleation of a multisubunit DNA-protein complex.
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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.