Congenital immunodeficiency with a regulatory defect in MHC class II gene expression lacks a specific HLA-DR promoter binding protein, RF-X

Reith, Walter; Satola, Sarah W.; Sanchez, Carlos Herrero; Amaldi, I.; Lisowska-Grospierre, B; Griscelli, C; Hadam, M.; Mach, Bernard

doi:10.1016/s0092-8674(88)90389-3

Cited by 264 publications

(217 citation statements)

References 37 publications

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“…3, 6, 7, and 11-14). These include RFX, X2BP (cAMP response element binding protein; CREB), and NF-Y, which bind cooperatively to the X1 box (8,15), X2 box (8,9,16,17), and Y box (18,19), respectively. Together these proteins are engaged in the formation of a highly stable multiprotein DNA complex (20 -24).…”

Section: Novel Mutations Within the Rfx-b Gene And Partial Rescue Of mentioning

confidence: 99%

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

Nagarajan

Peijnenburg

Gobin

et al. 2000

The Journal of Immunology

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MHC class II deficiency or bare lymphocyte syndrome is a severe combined immunodeficiency caused by defects in MHC-specific regulatory factors. Fibroblasts derived from two recently identified bare lymphocyte syndrome patients, EBA and FZA, were found to contain novel mutations in the RFX-B gene. RFX-B encodes a component of the RFX transcription factor that functions in the assembly of multiple transcription factors on MHC class II promoters. Unlike RFX5- and RFXAP-deficient cells, transfection of exogenous class II transactivator (CIITA) into these RFX-B-deficient fibroblasts resulted in the induction of HLA-DR and HLA-DP and, to a lesser extent, HLA-DQ. Similarly, CIITA-mediated induction of MHC class I, β2-microglobulin, and invariant chain genes was also found in these RFX-B-deficient fibroblasts. Expression of wild-type RFX-B completely reverted the noted deficiencies in these cells. Transfection of CIITA into Ramia cells, a B cell line that does not produce a stable RFX-B mRNA, resulted in induction of an MHC class II reporter, suggesting that CIITA overexpression may partially override the RFX-B defect.

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Section: Novel Mutations Within the Rfx-b Gene And Partial Rescue Of mentioning

confidence: 99%

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

Nagarajan

Peijnenburg

Gobin

et al. 2000

The Journal of Immunology

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“…In addition to a TATA motif, these include the X, Y, and Z boxes; elements whose sequences as well as stereospecific relationships to each other are highly conserved [16][17][18][19][20][21][22][23][24][25][26]. Several proteins that interact specifically with these cis-acting elements have been described [27][28][29][30][31][32][33][34][35][36][37][38]. A non-DNA binding protein (CIITA) whose expression pattern correlates with class II gene transcription and that strongly transactivates class II genes when expressed in class II-negative cells has also been identified [39,40].…”

Section: Introductionmentioning

confidence: 99%

High mobility group I/Y protein functions as a specific cofactor for Oct-2A: mapping of interaction domains

Abdulkadir

Casolaro

Tai

et al. 1998

Journal of Leukocyte Biology

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“…RFX is a trimeric protein composed of RFX5 (complementation group C) (22), RFXAP (group D) (23), and RFXANK/RFX-B (group B) (24,25). RFX is thought to direct B cell-specific and IFN-␥-inducible expression of MHC class II genes through binding to the X box (26) and possibly the W box (27). CIITA (group A) (28) is the only MHC class II transcription factor known to be induced in response to IFN-␥, and its expression alone is sufficient to activate expression of the MHC class II genes (29 -31).…”

mentioning

confidence: 99%

Identification of Class II Transcriptional Activator-Induced Genes by Representational Difference Analysis: Discoordinate Regulation of the DNα/DOβ Heterodimer

Taxman

Cressman

Ting

2000

The Journal of Immunology

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Class II transcriptional activator (CIITA) is a master regulator of MHC class II genes, including DR, DP, and DQ, and MHC class II-associated genes DM and invariant chain. To determine the repertoire of genes that is regulated by CIITA and to identify uncharacterized CIITA-inducible genes, we used representational difference analysis. Representational difference analysis screens for differentially expressed transcripts. All CIITA-induced genes were MHC class II related. We have identified the α subunit, DNα, of the class II processing factor DO as an additional CIITA-inducible gene. Northern analysis confirmed that DNα is induced by IFN-γ in 2fTGH fibrosarcoma cells, and CIITA is necessary for high-level expression in B cells. The β subunit, DOβ, is not inducible in fibrosarcoma cells by IFN-γ or exogenous CIITA expression. Moreover, in contrast to other class II genes, DOβ expression remains high in the absence of CIITA in B cells. The promoters for DNα and DOβ contain the highly conserved WXY motifs, and, like other class II genes, expression of both DNα and DOβ requires RFX. These findings demonstrate that both DNα and DOβ are regulated by RFX. However, DNα is defined for the first time as a CIITA-inducible gene, and DOβ as a MHC class II gene whose expression is independent of CIITA.

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Congenital immunodeficiency with a regulatory defect in MHC class II gene expression lacks a specific HLA-DR promoter binding protein, RF-X

Cited by 264 publications

References 37 publications

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

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

High mobility group I/Y protein functions as a specific cofactor for Oct-2A: mapping of interaction domains

Identification of Class II Transcriptional Activator-Induced Genes by Representational Difference Analysis: Discoordinate Regulation of the DNα/DOβ Heterodimer

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