Abstract
We have previously demonstrated an HLA-A * 0101null allele segregating in a family with the HLA-B8, -Cw7, -DR3, -DR52, -DQ2 haplotype. In the present study the regulatory elements with known transcription enhancement activity of the silenced HLA-A * 0101 allele were analyzed. In the enhancer B element, a T was substituted for a C at position – 106, whereas no other alterations were found in the adjacent 5′ section of the HLA-A * 0101null allele. This substitution was not seen in the enhancer B elements of the corresponding genes involved in normal HLA-A * 0101 membrane expression. Comparison of enhancer B element sequences of classical functional major histocompatibility complex (MHC) class I alleles demonstrated a high degree of conservation. In contrast, many MHC class I pseudogenes showed mutation in their enhancer B boxes. These results may indicate that the single mutation detected in the enhancer B element plays a pivotal role in the abolishment of membrane expression of the HLA-A * 0101null allele.
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Received: 20 January 1997 / Revised: 12 March 1997
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Lardy, N., Otting, N., van der Horst, A. et al. 5′ Regulatory nucleotide sequence of an HLA-A * 0101null allele. Immunogenetics 46, 152–155 (1997). https://doi.org/10.1007/s002510050254
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DOI: https://doi.org/10.1007/s002510050254