Details

Autor(en) / Beteiligte

• Lardy, N M
• Bakas, R M
• van der Horst, A R
• van Twuyver, E
• Bontrop, R E
• de Waal, L P

Titel

cis-acting regulatory elements abrogate allele-specific HLA class I gene expression in healthy individuals

Ist Teil von

• The Journal of immunology (1950), 1992-04, Vol.148 (8), p.2572-2577

Ort / Verlag

United States

Erscheinungsjahr

1992

Quelle

MEDLINE

Beschreibungen/Notizen

• Pedigree analysis of a Dutch family revealed the presence of an HLA-A "blanc" allele segregating with the HLA-B8, -Cw7, -DR3, -DR52, -DQ2 haplotype. Precipitation studies, using selected mAb and sera directed against conserved epitopes of HLA class I products, failed to detect the expression of a corresponding HLA-A locus product. cDNA nucleotide sequence analysis of the HLA-A "blanc" specificity showed that the obtained sequence was identical to the authentic HLA-A1 gene revealing no mutations, deletions or recombinations that could influence translation or transport of a putative translation product to the cell surface. Mitogen stimulation, EBV transformation, or treatment with rIFN-gamma and rTNF-alpha did not induce HLA-A1 expression. Furthermore, cell-mediated lympholysis analysis revealed that individuals carrying the nonexpressed HLA-A1 gene could mount a strong anti-HLA-A1 T cell response, indicating that HLA-A1 was not expressed during T cell ontogeny. Therefore, this study describes for the first time the allele-specific down-regulation of the expression of a classical HLA class I gene segregating in healthy individuals.