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Title: Analysis of HLA-DMB mutants and -DMB genomic structure

Journal Article · · Immunogenetics
; ; ;  [1];  [2]
  1. Children`s Hospital of Philadelphia, PA (United States)
  2. Univ. Medical College, Manhasset, NY (United States)

The HLA-DM locus encodes class II-like A and B chains and apparently regulates the antigen presentation function of conventional major histocompatibility complex (MHC) class II molecules. Here we describe the HLA-DMB mutations in three presentation defective B lymphoblastoid cell lines (B-LCL), 7.19.6, 10.6.6, and 10.78.6, which express DMB transcripts of abnormal length. Mutant 7.19.6 has a C{r_arrow}T point mutation that introduces a 5{prime} splice site into exon 3 of DMB. The independently derived mutants, 10.6.6 and 10.78.6, each harbor a G{r_arrow}A mutation in exon 3 and also lack an identical downstream segment of RNA. Mapping of DMB intron/exon borders, using a genomic clone, revealed that the segment missing in mutants 10.6.6 and 10.78.6 represents the fourth exon of DMB; no mutations were found within exon 4 in either 10.6.6 or 10.78.6, however. In addition, the DMB gene was found to have a six exon genomic structure, typical of MHC class II B genes. 35 refs., 5 figs.

Sponsoring Organization:
USDOE
OSTI ID:
75607
Journal Information:
Immunogenetics, Vol. 41, Issue 2-3; Other Information: PBD: 11 Jan 1995
Country of Publication:
United States
Language:
English