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A new HLA‐C allele with an alternative splice site in exon 3: HLA‐C*03:23N
Author(s) -
Shimizu Marie,
Kuroda Yukari,
Uchida Miyuki,
Takada Shinnosuke,
Kamada Hiromi,
Takahashi Daisuke,
Nakajima Fumiaki,
Miyata Shigeki,
Igarashi Shigeru,
Satake Masahiro
Publication year - 2020
Publication title -
hla
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.347
H-Index - 99
eISSN - 2059-2310
pISSN - 2059-2302
DOI - 10.1111/tan.13832
Subject(s) - exon , frameshift mutation , genetics , intron , allele , haplotype , biology , microbiology and biotechnology , null allele , splice site mutation , sequence analysis , human leukocyte antigen , splice , mutation , hla a , stop codon , rna splicing , sequence (biology) , exon trapping , alternative splicing , gene , rna , antigen
We identified a probable new null HLA‐C allele, C*03:23N , which originated from C*03:04:01:02 , but does not react with Cw3 antibodies. This allele was identified by sequence analysis, which indicated that a single G‐to‐A substitution at position 406 in exon 3 created a null allele under a new mechanism: the mutation changes the position of the intron 2‐exon 3 splice site to be further into exon 3, leading to a frameshift and a premature stop codon. Sequence analysis of cDNA confirmed the existence of the causative alternative acceptor splice site and the resultant deletion of 64 nucleotides in exon 3. Analysis of 220 blood or bone marrow donors in Japan with C*03:23N demonstrated that Japanese HLA‐C*03:23N is on the haplotype A*26:01∼C*03:23N∼B*40:02∼DRB1*09:01 .