A new beta 2 microglobulin mutation found in a melanoma tumor cell line

Tissue Antigens. 1999 Jun;53(6):569-72. doi: 10.1034/j.1399-0039.1999.530607.x.


Beta2 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 beta2 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 beta2 microglobulin 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 beta2 microglobulin gene is deleted. Comparisons with beta2 microglobulin mutations in other tumor cell lines suggest a mutation hot spot in exon 1.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Base Sequence
  • Cell Line, Transformed
  • Humans
  • Male
  • Melanoma / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • Tumor Cells, Cultured
  • beta 2-Microglobulin / genetics*


  • beta 2-Microglobulin