A new HLA-C allele with an alternative splice site in exon 3: HLA-C*03:23N.

Alleles Base Sequence Exons / genetics HLA-C Antigens / genetics Humans RNA Splice Sites / genetics
HLA-C*03:23N HLA expression variants HLA-C gene point mutation splice site

Journal

HLA
ISSN: 2059-2310
Titre abrégé: HLA
Pays: England
ID NLM: 101675570

Informations de publication

Date de publication:
06 2020
Historique:
received: 10 09 2019
revised: 25 12 2019
accepted: 05 02 2020
pubmed: 9 2 2020
medline: 22 6 2021
entrez: 9 2 2020
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1111/tan.13832 PMID: 32034867
pubmed: 32034867
doi: 10.1111/tan.13832
doi:

Substances chimiques

HLA-C Antigens 0
RNA Splice Sites 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

555-560

Informations de copyright

© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Références

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Auteurs

Marie Shimizu (M)

Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.
ORCID: 0000-0001-6930-8618

Yukari Kuroda (Y)

Kyushu Block Blood Center, Japanese Red Cross Society, Fukuoka, Japan.

Miyuki Uchida (M)

Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.

Shinnosuke Takada (S)

Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.

Hiromi Kamada (H)

Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.

Daisuke Takahashi (D)

Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.

Fumiaki Nakajima (F)

Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.

Shigeki Miyata (S)

Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.

Shigeru Igarashi (S)

Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.

Masahiro Satake (M)

Central Blood Institute, Japanese Red Cross Society, Tokyo, Japan.

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › A new HLA-C allele with an alternative splice...
questionsmedicales.fr › Sciences de l'information › Sources d'information › Services d'information › Documentation › Données de séquences moléculaires › Séquence nucléotidique › A new HLA-C allele with an alternative splice...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Exons › A new HLA-C allele with an alternative splice...
questionsmedicales.fr › Facteurs biologiques › Antigènes › Isoantigènes › Antigènes d'histocompatibilité › Antigènes HLA › Antigènes HLA-C › A new HLA-C allele with an alternative splice...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A new HLA-C allele with an alternative splice...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Sites d'épissage d'ARN › A new HLA-C allele with an alternative splice...