A new HLA‐C allele with an alternative splice site in exon 3: HLA‐C03:23N
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 mechan...
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| Veröffentlicht in: | HLA 2020-06, Vol.95 (6), p.555-560 |
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| container_title | HLA |
| container_volume | 95 |
| creator | Shimizu, Marie Kuroda, Yukari Uchida, Miyuki Takada, Shinnosuke Kamada, Hiromi Takahashi, Daisuke Nakajima, Fumiaki Miyata, Shigeki Igarashi, Shigeru Satake, Masahiro |
| description | 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. |
| doi_str_mv | 10.1111/tan.13832 |
| format | Article |
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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.</description><identifier>ISSN: 2059-2302</identifier><identifier>EISSN: 2059-2310</identifier><identifier>DOI: 10.1111/tan.13832</identifier><identifier>PMID: 32034867</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>HLA expression variants ; HLA‐C gene ; HLA‐C03:23N ; point mutation ; splice site</subject><ispartof>HLA, 2020-06, Vol.95 (6), p.555-560</ispartof><rights>2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd</rights><rights>2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3252-e21207399f23b338b797a80e97ed5cc79fef84b059cd405d361b4a861ab7c8fe3</citedby><cites>FETCH-LOGICAL-c3252-e21207399f23b338b797a80e97ed5cc79fef84b059cd405d361b4a861ab7c8fe3</cites><orcidid>0000-0001-6930-8618</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Ftan.13832$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Ftan.13832$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32034867$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Shimizu, Marie</creatorcontrib><creatorcontrib>Kuroda, Yukari</creatorcontrib><creatorcontrib>Uchida, Miyuki</creatorcontrib><creatorcontrib>Takada, Shinnosuke</creatorcontrib><creatorcontrib>Kamada, Hiromi</creatorcontrib><creatorcontrib>Takahashi, Daisuke</creatorcontrib><creatorcontrib>Nakajima, Fumiaki</creatorcontrib><creatorcontrib>Miyata, Shigeki</creatorcontrib><creatorcontrib>Igarashi, Shigeru</creatorcontrib><creatorcontrib>Satake, Masahiro</creatorcontrib><title>A new HLA‐C allele with an alternative splice site in exon 3: HLA‐C03:23N</title><title>HLA</title><addtitle>HLA</addtitle><description>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.</description><subject>HLA expression variants</subject><subject>HLA‐C gene</subject><subject>HLA‐C03:23N</subject><subject>point mutation</subject><subject>splice site</subject><issn>2059-2302</issn><issn>2059-2310</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><recordid>eNp1kLFOwzAQhi0Eoqh04AWQV4a0ti-J7W5RBRSplKXMke1chKU0rZJA6cYj8Iw8CYbQbtxyd9J3v3QfIVecjXmoSWfqMQcF4oRcCJboSABnp8eZiQEZta23TKRaslTqczIAwSBWqbwgjxmtcUfni-zr43NGTVVhhXTnuxdq6rB22NSm829I223lXWi-Q-priu-bmsL0cMlgKmB5Sc5KU7U4-utD8nx3u5rNo8XT_cMsW0QORCIiFFwwCVqXAiyAslJLoxhqiUXinNQlliq24QFXxCwpIOU2NirlxkqnSoQhuelzXbNp2wbLfNv4tWn2OWf5j5U8WMl_rQT2ume3r3aNxZE8OAjApAd2vsL9_0n5Klv2kd-aTWpH</recordid><startdate>202006</startdate><enddate>202006</enddate><creator>Shimizu, Marie</creator><creator>Kuroda, Yukari</creator><creator>Uchida, Miyuki</creator><creator>Takada, Shinnosuke</creator><creator>Kamada, Hiromi</creator><creator>Takahashi, Daisuke</creator><creator>Nakajima, Fumiaki</creator><creator>Miyata, Shigeki</creator><creator>Igarashi, Shigeru</creator><creator>Satake, Masahiro</creator><general>Blackwell Publishing Ltd</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><orcidid>https://orcid.org/0000-0001-6930-8618</orcidid></search><sort><creationdate>202006</creationdate><title>A new HLA‐C allele with an alternative splice site in exon 3: HLA‐C03:23N</title><author>Shimizu, Marie ; Kuroda, Yukari ; Uchida, Miyuki ; Takada, Shinnosuke ; Kamada, Hiromi ; Takahashi, Daisuke ; Nakajima, Fumiaki ; Miyata, Shigeki ; Igarashi, Shigeru ; Satake, Masahiro</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3252-e21207399f23b338b797a80e97ed5cc79fef84b059cd405d361b4a861ab7c8fe3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>HLA expression variants</topic><topic>HLA‐C gene</topic><topic>HLA‐C03:23N</topic><topic>point mutation</topic><topic>splice site</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Shimizu, Marie</creatorcontrib><creatorcontrib>Kuroda, Yukari</creatorcontrib><creatorcontrib>Uchida, Miyuki</creatorcontrib><creatorcontrib>Takada, Shinnosuke</creatorcontrib><creatorcontrib>Kamada, Hiromi</creatorcontrib><creatorcontrib>Takahashi, Daisuke</creatorcontrib><creatorcontrib>Nakajima, Fumiaki</creatorcontrib><creatorcontrib>Miyata, Shigeki</creatorcontrib><creatorcontrib>Igarashi, Shigeru</creatorcontrib><creatorcontrib>Satake, Masahiro</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><jtitle>HLA</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Shimizu, Marie</au><au>Kuroda, Yukari</au><au>Uchida, Miyuki</au><au>Takada, Shinnosuke</au><au>Kamada, Hiromi</au><au>Takahashi, Daisuke</au><au>Nakajima, Fumiaki</au><au>Miyata, Shigeki</au><au>Igarashi, Shigeru</au><au>Satake, Masahiro</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A new HLA‐C allele with an alternative splice site in exon 3: HLA‐C03:23N</atitle><jtitle>HLA</jtitle><addtitle>HLA</addtitle><date>2020-06</date><risdate>2020</risdate><volume>95</volume><issue>6</issue><spage>555</spage><epage>560</epage><pages>555-560</pages><issn>2059-2302</issn><eissn>2059-2310</eissn><abstract>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.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>32034867</pmid><doi>10.1111/tan.13832</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0001-6930-8618</orcidid></addata></record> |
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| subjects | HLA expression variants HLA‐C gene HLA‐C03:23N point mutation splice site |
| title | A new HLA‐C allele with an alternative splice site in exon 3: HLA‐C03:23N |
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