β2 microglobulin mutations are an important mechanism for HLA class I total loss, (phenotype No. I) and have been described in colon carcinomas, melanomas and lymphomas. We describe a new β2 microglobulin mutation detected in the melanoma cell line GR-34. The new mutation reported here was identified as a deletion of 4 bases (TTCT) in the highly repetitive sequence CTCTCTCTTTCT located in the leader sequence of the β2 micmglobulin gene at codon 15-16 of exon 1. The mutation produces a frameshift in the open reading frame sequence with the appearance of a stop codon at position 42. We also demonstrate that the second β2 microglobulin gene is deleted. Comparisons with β2 microglobulin mutations in other tumor cell lines suggest a mutation hot spot in exon 1.
Ṕrez, B., Benitez, R., Ferǹndez, M. A., Oliva, M. R., Soto, J. L., Serrano, S., López Nevot, M. A., & Garrido, F. (1999). A new β<inf>2</inf> microglobulin mutation found in a melanoma tumor cell line. Tissue Antigens, 569-572. https://doi.org/10.1034/j.1399-0039.1999.530607.x