Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency
✍ Scribed by Jean Villard; Walter Reith; Emmanuèle Barras; Arnaud Gos; Michael A. Morris; Stylianos E. Antonarakis; Peter J. Van den Elsen; Bernard Mach
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 172 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Communicated by Henrik Dahl
MHC class II deficiency is a severe primary immunodeficiency characterised by the absence of major histocompatibility complex class II (MHC-II) gene expression. It is genetically heterogeneous and can result from defects in at least four different trans-acting regulatory genes required for transcription of MHC-II genes. One of these genes has recently been shown to encode a novel DNA binding protein called RFX5, which is one subunit of a heteromeric protein complex (RFX) that binds to the promoters of MHC-II genes. We have characterised the mutations in all four patients known to harbour a defect in the RFX5 gene and have mapped this new human disease gene to chromosome 1 band q21, a region frequently exhibiting chromosomal aberrations in a variety of preneoplastic and neoplastic diseases.