A new β2 microglobulin mutation found in a melanoma tumor cell line

B. Ṕrez, R. Benitez, M. A. Ferǹndez, M. R. Oliva, J. L. Soto, S. Serrano, M. A. López Nevot, Frederico Garrido

Research output: Contribution to journalArticlepeer-review

48 Scopus citations


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.

Original languageEnglish
Pages (from-to)569-572
Number of pages4
JournalTissue Antigens
Issue number6
StatePublished - 1999


  • Mutation
  • Tumor
  • β microglobulin


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