کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2832944 | 1163852 | 2008 | 9 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Transcriptional silencing of RFXAP in MHC class II-deficiency Transcriptional silencing of RFXAP in MHC class II-deficiency](/preview/png/2832944.png)
MHC-II deficiency is recognized by defects in components of the RFX complex or CIITA. In this study, we have characterized at the molecular level the putative defect in MHC-II regulatory factors of a recently identified MHC-II deficiency patient (FGK). We found that this patient lacked detectable levels of mRNA and protein of the RFX complex subunit RFXAP. It was subsequently established that the RFXAP gene in FGK differed from wild type RFXAP by a homozygous 75 bp insertion in the 5′-UTR, which impaired the activity of the FGK RFXAP promoter. The transcriptional silent state of RFXAP correlated with reduced recruitment of RNA polymerase II to FGK RFXAP chromatin. Together, this insertion in the promoter region represents a novel type of MHC-II gene silencing in MHC-II deficiency patients.
Journal: Molecular Immunology - Volume 45, Issue 10, May 2008, Pages 2920–2928