PMID- 9578419 OWN - NLM STAT- MEDLINE DCOM- 19980609 LR - 20071114 IS - 0960-8931 (Print) IS - 0960-8931 (Linking) VI - 7 Suppl 2 DP - 1997 Aug TI - Beta2-microglobulin gene mutations in human melanoma cells: molecular characterization and implications for immune surveillance. PG - S67-74 AB - In recent years, the mechanisms underlying defects in the expression/function of human leukocyte antigen (HLA) class I antigens have been analyzed in an increasing number of melanoma cells, since these abnormalities are likely to have a negative impact on T-cell-based immunotherapy of melanoma. This article reviews the information about the molecular defects found in melanoma cell lines that do not express HLA class I antigens, following a concise description of the structure and assembly of HLA class I antigens. Distinct defects ranging from large deletions to point mutations in beta2-microglobulin genes have been found in melanoma cells. A mutation in an 8 base-pair CT repeat region of exon 1 has been found frequently in melanoma cell lines suggesting that this region of the beta2-microglobulin gene is a hot-spot for mutations. The effects of beta2-microglobulin mutations are mostly at the level of translation, emphasizing the importance of analyzing beta2-microglobulin expression at the protein level in melanoma lesions without detectable HLA class I antigen expression. Interestingly, many melanoma cell lines have additional defects that directly impact HLA class I antigen expression. Therefore, multiple mechanisms that affect the expression/function of HLA class I antigens appear to be available to melanoma cells to escape from immune recognition. FAU - Hicklin, D J AU - Hicklin DJ AD - Department of Microbiology and Immunology, New York Medical College, Valhalla 10595, USA. FAU - Dellaratta, D V AU - Dellaratta DV FAU - Kishore, R AU - Kishore R FAU - Liang, B AU - Liang B FAU - Kageshita, T AU - Kageshita T FAU - Ferrone, S AU - Ferrone S LA - eng GR - CA51814/CA/NCI NIH HHS/United States GR - CA67108/CA/NCI NIH HHS/United States PT - Journal Article PT - Research Support, U.S. Gov't, P.H.S. PT - Review PL - England TA - Melanoma Res JT - Melanoma research JID - 9109623 RN - 0 (Histocompatibility Antigens Class I) RN - 0 (beta 2-Microglobulin) SB - IM MH - Exons MH - Histocompatibility Antigens Class I/biosynthesis/immunology MH - Humans MH - Immunologic Surveillance/*physiology MH - Melanoma/*genetics/*immunology MH - *Point Mutation MH - beta 2-Microglobulin/*genetics/*immunology RF - 47 EDAT- 1997/08/01 00:00 MHDA- 1998/05/13 00:01 CRDT- 1997/08/01 00:00 PHST- 1997/08/01 00:00 [pubmed] PHST- 1998/05/13 00:01 [medline] PHST- 1997/08/01 00:00 [entrez] PST - ppublish SO - Melanoma Res. 1997 Aug;7 Suppl 2:S67-74.