New insights in HLA‐E polymorphism by refined analysis of the full‐length gene
Background Human leukocyte antigen (HLA)‐E is a non‐classical HLA class I molecule that plays a role in both the innate and the adaptive immune response through interaction with receptors on natural killer‐ and T‐cells. The HLA‐E gene is characterized by limited polymorphism compared with the classi...
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| Veröffentlicht in: | HLA 2017-03, Vol.89 (3), p.143-149 |
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| creator | Olieslagers, T. I. Voorter, C. E. M. Groeneweg, M. Xu, Y. Wieten, L. Tilanus, M. G. J. |
| description | Background
Human leukocyte antigen (HLA)‐E is a non‐classical HLA class I molecule that plays a role in both the innate and the adaptive immune response through interaction with receptors on natural killer‐ and T‐cells. The HLA‐E gene is characterized by limited polymorphism compared with the classical HLA loci on chromosome 6. At the start of this study, only 13 variable sites had been identified (IPD‐IMGT/HLA Database v3.18.0). While most previous studies focused on polymorphism in exons 2 and 3 or specific gene regions, polymorphism in the other exons and introns could influence protein expression and function as well. Studies that investigate extended HLA‐E polymorphism are therefore needed to better understand the functional relevance of HLA‐E in health and disease.
Aims
The aim of this study was to examine the variability of the full‐length HLA‐E gene region in individuals originating from different populations.
Materials and Methods/Results
A total of 7 new HLA‐E alleles were identified using full‐length HLA‐E sequencing of 123 individuals from Asian, Dutch or Hunan Han origin. Furthermore, genome variation analysis of the third phase of the 1000 genomes database showed 107 new variable sites in 2504 individuals originating from 26 different populations.
Discussion and Conclusion
Our study demonstrates that the nucleotide variability of the HLA‐E gene is much higher than previously known, albeit in only a limited number of individuals. Overall only 2 variants, HLA‐E*01:01 and *01:03, are frequently present worldwide, suggesting that balancing selection is acting on HLA‐E. |
| doi_str_mv | 10.1111/tan.12965 |
| format | Article |
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Human leukocyte antigen (HLA)‐E is a non‐classical HLA class I molecule that plays a role in both the innate and the adaptive immune response through interaction with receptors on natural killer‐ and T‐cells. The HLA‐E gene is characterized by limited polymorphism compared with the classical HLA loci on chromosome 6. At the start of this study, only 13 variable sites had been identified (IPD‐IMGT/HLA Database v3.18.0). While most previous studies focused on polymorphism in exons 2 and 3 or specific gene regions, polymorphism in the other exons and introns could influence protein expression and function as well. Studies that investigate extended HLA‐E polymorphism are therefore needed to better understand the functional relevance of HLA‐E in health and disease.
Aims
The aim of this study was to examine the variability of the full‐length HLA‐E gene region in individuals originating from different populations.
Materials and Methods/Results
A total of 7 new HLA‐E alleles were identified using full‐length HLA‐E sequencing of 123 individuals from Asian, Dutch or Hunan Han origin. Furthermore, genome variation analysis of the third phase of the 1000 genomes database showed 107 new variable sites in 2504 individuals originating from 26 different populations.
Discussion and Conclusion
Our study demonstrates that the nucleotide variability of the HLA‐E gene is much higher than previously known, albeit in only a limited number of individuals. Overall only 2 variants, HLA‐E*01:01 and *01:03, are frequently present worldwide, suggesting that balancing selection is acting on HLA‐E.</description><identifier>ISSN: 2059-2302</identifier><identifier>EISSN: 2059-2310</identifier><identifier>DOI: 10.1111/tan.12965</identifier><identifier>PMID: 28127896</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>1000 genomes analysis ; Adaptive Immunity ; Alleles ; Asian People ; B-Lymphocytes - cytology ; B-Lymphocytes - immunology ; Exons ; full‐length gene polymorphism ; Gene Expression ; Haplotypes ; High-Throughput Nucleotide Sequencing ; Histocompatibility Antigens Class I - genetics ; Histocompatibility Antigens Class I - immunology ; Histocompatibility Testing ; HLA-E Antigens ; HLA‐E ; Human Genome Project ; human leukocyte antigens ; Humans ; Immunity, Innate ; Introns ; Killer Cells, Natural - cytology ; Killer Cells, Natural - immunology ; Polymorphism, Genetic ; Protein Isoforms - genetics ; Protein Isoforms - immunology ; sequence‐based typing ; single nucleotide polymorphism ; T-Lymphocytes - cytology ; T-Lymphocytes - immunology ; White People</subject><ispartof>HLA, 2017-03, Vol.89 (3), p.143-149</ispartof><rights>2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd</rights><rights>2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3255-8244a8d00586850766326a5a3a7a84882c11e273ef1a7d904be53c421c23b903</citedby><cites>FETCH-LOGICAL-c3255-8244a8d00586850766326a5a3a7a84882c11e273ef1a7d904be53c421c23b903</cites><orcidid>0000-0002-4546-2191</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.12965$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Ftan.12965$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28127896$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Olieslagers, T. I.</creatorcontrib><creatorcontrib>Voorter, C. E. M.</creatorcontrib><creatorcontrib>Groeneweg, M.</creatorcontrib><creatorcontrib>Xu, Y.</creatorcontrib><creatorcontrib>Wieten, L.</creatorcontrib><creatorcontrib>Tilanus, M. G. J.</creatorcontrib><title>New insights in HLA‐E polymorphism by refined analysis of the full‐length gene</title><title>HLA</title><addtitle>HLA</addtitle><description>Background
Human leukocyte antigen (HLA)‐E is a non‐classical HLA class I molecule that plays a role in both the innate and the adaptive immune response through interaction with receptors on natural killer‐ and T‐cells. The HLA‐E gene is characterized by limited polymorphism compared with the classical HLA loci on chromosome 6. At the start of this study, only 13 variable sites had been identified (IPD‐IMGT/HLA Database v3.18.0). While most previous studies focused on polymorphism in exons 2 and 3 or specific gene regions, polymorphism in the other exons and introns could influence protein expression and function as well. Studies that investigate extended HLA‐E polymorphism are therefore needed to better understand the functional relevance of HLA‐E in health and disease.
Aims
The aim of this study was to examine the variability of the full‐length HLA‐E gene region in individuals originating from different populations.
Materials and Methods/Results
A total of 7 new HLA‐E alleles were identified using full‐length HLA‐E sequencing of 123 individuals from Asian, Dutch or Hunan Han origin. Furthermore, genome variation analysis of the third phase of the 1000 genomes database showed 107 new variable sites in 2504 individuals originating from 26 different populations.
Discussion and Conclusion
Our study demonstrates that the nucleotide variability of the HLA‐E gene is much higher than previously known, albeit in only a limited number of individuals. Overall only 2 variants, HLA‐E*01:01 and *01:03, are frequently present worldwide, suggesting that balancing selection is acting on HLA‐E.</description><subject>1000 genomes analysis</subject><subject>Adaptive Immunity</subject><subject>Alleles</subject><subject>Asian People</subject><subject>B-Lymphocytes - cytology</subject><subject>B-Lymphocytes - immunology</subject><subject>Exons</subject><subject>full‐length gene polymorphism</subject><subject>Gene Expression</subject><subject>Haplotypes</subject><subject>High-Throughput Nucleotide Sequencing</subject><subject>Histocompatibility Antigens Class I - genetics</subject><subject>Histocompatibility Antigens Class I - immunology</subject><subject>Histocompatibility Testing</subject><subject>HLA-E Antigens</subject><subject>HLA‐E</subject><subject>Human Genome Project</subject><subject>human leukocyte antigens</subject><subject>Humans</subject><subject>Immunity, Innate</subject><subject>Introns</subject><subject>Killer Cells, Natural - cytology</subject><subject>Killer Cells, Natural - immunology</subject><subject>Polymorphism, Genetic</subject><subject>Protein Isoforms - genetics</subject><subject>Protein Isoforms - immunology</subject><subject>sequence‐based typing</subject><subject>single nucleotide polymorphism</subject><subject>T-Lymphocytes - cytology</subject><subject>T-Lymphocytes - immunology</subject><subject>White People</subject><issn>2059-2302</issn><issn>2059-2310</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kMtKw0AUhgdRbKld-AIyWxdp55K5LUupVigVpPswSSbNwORCJqVk5yP4jD6Jo9HuPJvzL77zc_gAuMdogcMse10vMFGcXYEpQUxFhGJ0fcmITMDce5siwpVAXKhbMCESEyEVn4K3vTlDW3t7LHsfAtzuVp_vHxvYNm6omq4tra9gOsDOFLY2OdS1doO3HjYF7EsDi5Nz4cCZ-tiX8GhqcwduCu28mf_uGTg8bQ7rbbR7fX5Zr3ZRRgljkSRxrGWOEJNcMiQ4p4RrpqkWWsZSkgxjQwQ1BdYiVyhODaNZTHBGaKoQnYHHsTbrGu_De0nb2Up3Q4JR8m0mCWaSHzOBfRjZ9pRWJr-Qfx4CsByBs3Vm-L8pOaz2Y-UX4phtmA</recordid><startdate>201703</startdate><enddate>201703</enddate><creator>Olieslagers, T. I.</creator><creator>Voorter, C. E. M.</creator><creator>Groeneweg, M.</creator><creator>Xu, Y.</creator><creator>Wieten, L.</creator><creator>Tilanus, M. G. J.</creator><general>Blackwell Publishing Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><orcidid>https://orcid.org/0000-0002-4546-2191</orcidid></search><sort><creationdate>201703</creationdate><title>New insights in HLA‐E polymorphism by refined analysis of the full‐length gene</title><author>Olieslagers, T. I. ; Voorter, C. E. M. ; Groeneweg, M. ; Xu, Y. ; Wieten, L. ; Tilanus, M. G. J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3255-8244a8d00586850766326a5a3a7a84882c11e273ef1a7d904be53c421c23b903</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>1000 genomes analysis</topic><topic>Adaptive Immunity</topic><topic>Alleles</topic><topic>Asian People</topic><topic>B-Lymphocytes - cytology</topic><topic>B-Lymphocytes - immunology</topic><topic>Exons</topic><topic>full‐length gene polymorphism</topic><topic>Gene Expression</topic><topic>Haplotypes</topic><topic>High-Throughput Nucleotide Sequencing</topic><topic>Histocompatibility Antigens Class I - genetics</topic><topic>Histocompatibility Antigens Class I - immunology</topic><topic>Histocompatibility Testing</topic><topic>HLA-E Antigens</topic><topic>HLA‐E</topic><topic>Human Genome Project</topic><topic>human leukocyte antigens</topic><topic>Humans</topic><topic>Immunity, Innate</topic><topic>Introns</topic><topic>Killer Cells, Natural - cytology</topic><topic>Killer Cells, Natural - immunology</topic><topic>Polymorphism, Genetic</topic><topic>Protein Isoforms - genetics</topic><topic>Protein Isoforms - immunology</topic><topic>sequence‐based typing</topic><topic>single nucleotide polymorphism</topic><topic>T-Lymphocytes - cytology</topic><topic>T-Lymphocytes - immunology</topic><topic>White People</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Olieslagers, T. I.</creatorcontrib><creatorcontrib>Voorter, C. E. M.</creatorcontrib><creatorcontrib>Groeneweg, M.</creatorcontrib><creatorcontrib>Xu, Y.</creatorcontrib><creatorcontrib>Wieten, L.</creatorcontrib><creatorcontrib>Tilanus, M. G. J.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><jtitle>HLA</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Olieslagers, T. I.</au><au>Voorter, C. E. M.</au><au>Groeneweg, M.</au><au>Xu, Y.</au><au>Wieten, L.</au><au>Tilanus, M. G. J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>New insights in HLA‐E polymorphism by refined analysis of the full‐length gene</atitle><jtitle>HLA</jtitle><addtitle>HLA</addtitle><date>2017-03</date><risdate>2017</risdate><volume>89</volume><issue>3</issue><spage>143</spage><epage>149</epage><pages>143-149</pages><issn>2059-2302</issn><eissn>2059-2310</eissn><abstract>Background
Human leukocyte antigen (HLA)‐E is a non‐classical HLA class I molecule that plays a role in both the innate and the adaptive immune response through interaction with receptors on natural killer‐ and T‐cells. The HLA‐E gene is characterized by limited polymorphism compared with the classical HLA loci on chromosome 6. At the start of this study, only 13 variable sites had been identified (IPD‐IMGT/HLA Database v3.18.0). While most previous studies focused on polymorphism in exons 2 and 3 or specific gene regions, polymorphism in the other exons and introns could influence protein expression and function as well. Studies that investigate extended HLA‐E polymorphism are therefore needed to better understand the functional relevance of HLA‐E in health and disease.
Aims
The aim of this study was to examine the variability of the full‐length HLA‐E gene region in individuals originating from different populations.
Materials and Methods/Results
A total of 7 new HLA‐E alleles were identified using full‐length HLA‐E sequencing of 123 individuals from Asian, Dutch or Hunan Han origin. Furthermore, genome variation analysis of the third phase of the 1000 genomes database showed 107 new variable sites in 2504 individuals originating from 26 different populations.
Discussion and Conclusion
Our study demonstrates that the nucleotide variability of the HLA‐E gene is much higher than previously known, albeit in only a limited number of individuals. Overall only 2 variants, HLA‐E*01:01 and *01:03, are frequently present worldwide, suggesting that balancing selection is acting on HLA‐E.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>28127896</pmid><doi>10.1111/tan.12965</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-4546-2191</orcidid></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | 1000 genomes analysis Adaptive Immunity Alleles Asian People B-Lymphocytes - cytology B-Lymphocytes - immunology Exons full‐length gene polymorphism Gene Expression Haplotypes High-Throughput Nucleotide Sequencing Histocompatibility Antigens Class I - genetics Histocompatibility Antigens Class I - immunology Histocompatibility Testing HLA-E Antigens HLA‐E Human Genome Project human leukocyte antigens Humans Immunity, Innate Introns Killer Cells, Natural - cytology Killer Cells, Natural - immunology Polymorphism, Genetic Protein Isoforms - genetics Protein Isoforms - immunology sequence‐based typing single nucleotide polymorphism T-Lymphocytes - cytology T-Lymphocytes - immunology White People |
| title | New insights in HLA‐E polymorphism by refined analysis of the full‐length gene |
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