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Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency
Author(s) -
Villard Jean,
Reith Walter,
Barras Emmanuèle,
Gos Arnaud,
Morris Michael A.,
Antonarakis Stylianos E.,
Van den Elsen Peter J.,
Mach Bernard
Publication year - 1997
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)10:6<430::aid-humu3>3.0.co;2-h
Subject(s) - biology , genetics , gene , major histocompatibility complex , transcription factor , promoter , gene expression
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. Hum Mutat 10:430–435, 1997. © 1997 Wiley‐Liss, Inc.