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Scientific article
English

Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency

Published inHuman mutation, vol. 10, no. 6, p. 430-435
Publication date1997
Abstract

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.

Keywords
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1/genetics
  • Cloning, Molecular
  • DNA Mutational Analysis
  • DNA, Complementary/genetics
  • DNA-Binding Proteins/ genetics
  • Female
  • Genes, MHC Class II/ genetics
  • Genetic Complementation Test
  • Heterozygote Detection
  • Humans
  • Male
  • Severe Combined Immunodeficiency/ genetics
  • Transcription Factors/genetics
Citation (ISO format)
VILLARD, Jean et al. Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency. In: Human mutation, 1997, vol. 10, n° 6, p. 430–435. doi: 10.1002/(sici)1098-1004(1997)10:6<430::aid-humu3>3.3.co;2-w
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ISSN of the journal1059-7794
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