Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
Immunogenetics
2005 Feb 01;5611:788-97. doi: 10.1007/s00251-004-0738-2.
Show Gene links
Show Anatomy links
Evolutionary conservation and characterization of the bare lymphocyte syndrome transcription factor RFX-B and its paralogue ANKRA2.
Long AB
,
Boss JM
.
???displayArticle.abstract???
The extraordinary homology between major histocompatibility complex class II (MHC II) proteins across species from human to bony fish suggests that transcription factors that regulate these proteins might be conserved as well. Deficiencies in four proteins that regulate MHC II genes in humans (RFX-B, RFX5, RFXAP, and CIITA) cause an inherited immunodeficiency disorder known as the bare lymphocyte syndrome (BLS). To understand the structure and mechanism of function of the BLS transcription factors, we analyzed the evolutionary history of RFX-B, the factor deficient in the majority of patients with BLS. Sequence comparison and analysis of the RFX-B proteins showed that RFX-B and a closely related protein, ANKRA2, are present in humans to bony fish and that specific domains are highly conserved. In addition to sequence conservation, functional conservation exists, as mouse and Xenopus RFX-B orthologues, but not the paralogous protein ANKRA2, were able to complement the MHC II deficiency in a BLS-patient-derived cell line deficient in RFX-B. The remarkable conservation of the RFX-B lineage attests to the conservation of the regulation mechanism for this gene system and its importance to precisely regulate MHC class II molecules in both the developing and active immune response.
Boss,
Transcriptional regulation of the MHC class II antigen presentation pathway.
2003, Pubmed
Boss,
Transcriptional regulation of the MHC class II antigen presentation pathway.
2003,
Pubmed
Bénichou,
Class II-antigen-negative patient and mutant B-cell lines represent at least three, and probably four, distinct genetic defects defined by complementation analysis.
1991,
Pubmed
DeSandro,
Associations and interactions between bare lymphocyte syndrome factors.
2000,
Pubmed
Dehal,
The draft genome of Ciona intestinalis: insights into chordate and vertebrate origins.
2002,
Pubmed
Durand,
RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency.
1997,
Pubmed
Elhasid,
Major histocompatibility complex class II deficiency: a clinical review.
1996,
Pubmed
Flajnik,
Insight into the primordial MHC from studies in ectothermic vertebrates.
1999,
Pubmed
,
Xenbase
Gilbert,
Why genes in pieces?
1978,
Pubmed
Griscelli,
Combined immunodeficiency with defective expression in MHC class II genes.
1989,
Pubmed
Kasahara,
Evolution of the major histocompatibility complex: a current overview.
1995,
Pubmed
Klein,
Birth of the major histocompatibility complex.
1998,
Pubmed
Klein,
Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome.
1993,
Pubmed
Kumánovics,
Genomic organization of the mammalian MHC.
2003,
Pubmed
Lin,
The ankyrin repeat-containing adaptor protein Tvl-1 is a novel substrate and regulator of Raf-1.
1999,
Pubmed
Mach,
Regulation of MHC class II genes: lessons from a disease.
1996,
Pubmed
Masternak,
A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.
1998,
Pubmed
Moreno,
Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex.
1997,
Pubmed
Nagarajan,
RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency.
1999,
Pubmed
Nagarajan,
Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells.
2000,
Pubmed
Nekrep,
Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex.
2000,
Pubmed
Nekrep,
Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome.
2001,
Pubmed
Page,
TreeView: an application to display phylogenetic trees on personal computers.
1996,
Pubmed
Patthy,
Exon shuffling and other ways of module exchange.
1996,
Pubmed
Rader,
Characterization of ANKRA, a novel ankyrin repeat protein that interacts with the cytoplasmic domain of megalin.
2000,
Pubmed
Rogers,
Amino acid sequences common to rapidly degraded proteins: the PEST hypothesis.
1986,
Pubmed
Seidl,
Genetic complexity of regulatory mutants defective for HLA class II gene expression.
1992,
Pubmed
Steimle,
A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome).
1995,
Pubmed
Steimle,
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome).
1993,
Pubmed
Syed,
Isolation of the promoters of Atlantic salmon MHCII genes.
2003,
Pubmed
Thompson,
The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools.
1997,
Pubmed
Wiszniewski,
Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.
2003,
Pubmed
Yan,
Identification of Gasz, an evolutionarily conserved gene expressed exclusively in germ cells and encoding a protein with four ankyrin repeats, a sterile-alpha motif, and a basic leucine zipper.
2002,
Pubmed
Yan,
Identification and characterization of evolutionarily conserved pufferfish, zebrafish, and frog orthologs of GASZ.
2004,
Pubmed
,
Xenbase