ArticleMolecular and cellular biology2001
Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome.
Article in Molecular and cellular biology, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 47 citations in OpenAlex.
- Orientia tsutsugamushi Ank5 promotes NLRC5 cytoplasmic retention and degradation to inhibit MHC class I expression.Nature communications · 2024Article
- Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.Journal of clinical immunology · 2023Article
- Progressive Ataxia and Neurologic Regression inNeurology. Genetics · 2021Article
- The Effect of Mutations in the TPR and Ankyrin Families of Alpha Solenoid Repeat Proteins.Frontiers in bioinformatics · 2021Review
- The Probiotic BB12 Induces MicroRNAs Involved in Antigen Processing and Presentation in Porcine Monocyte-Derived Dendritic Cells.International journal of molecular sciences · 2020Article
- A caspase-2-RFXANK interaction and its implication for MHC class II expression.Cell death & disease · 2018Article
- Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.Neurology. Genetics · 2015Article
- Orf virus (ORFV) ANK-1 protein mitochondrial localization is mediated by ankyrin repeat motifs.Virus genes · 2014Article
- Clinical, immunological and genetic features in eleven Algerian patients with major histocompatibility complex class II expression deficiency.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2012Article
- NLRC5 cooperates with the RFX transcription factor complex to induce MHC class I gene expression.Journal of immunology (Baltimore, Md. : 1950) · 2012Article
- 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
- The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population.European journal of pediatrics · 2010Article
- Formation of the RFX gene regulatory complex induces folding of the interaction domain of RFXAP.Proteins · 2009Article
- Mitogen-activated protein kinase ERK1/2 regulates the class II transactivator.The Journal of biological chemistry · 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
- Evolutionary conservation and characterization of the bare lymphocyte syndrome transcription factor RFX-B and its paralogue ANKRA2.Immunogenetics · 2005Article
- The ankyrin repeat as molecular architecture for protein recognition.Protein science : a publication of the Protein Society · 2004Review
- Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course.Immunogenetics · 2003Article
- Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.Immunogenetics · 2003Article
- 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
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ankyrin repeats are well-known structural modules that mediate interactions between a wide spectrum of proteins. The regulatory factor X with ankyrin repeats (RFXANK) is a subunit of a tripartite RFX complex that assembles on promoters of major histocompatibility complex class II (MHC II) genes. Although it is known that RFXANK plays a central role in the nucleation of RFX, it was not clear how its ankyrin repeats mediate the interactions within the complex and with other proteins. To answer this question, we modeled the RFXANK protein and determined the variable residues of the ankyrin repeats that should contact other proteins. Site-directed alanine mutagenesis of these residues together with in vitro and in vivo binding studies elucidated how RFXAP and CIITA, which simultaneously interact with RFXANK in vivo, bind to two opposite faces of its ankyrin repeats. Moreover, the binding of RFXAP requires two separate surfaces on RFXANK. One of them, which is located in the ankyrin groove, is severely affected in the FZA patient with the bare lymphocyte syndrome. This genetic disease blocks the expression of MHC II molecules on the surface of B cells. By pinpointing the interacting residues of the ankyrin repeats of RFXANK, the mechanism of this subtype of severe combined immunodeficiency was revealed.
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