Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project
- Autores
- Horton, Roger; Gibson, Richard; Coggill, Penny; Miretti, Marcos Mateo; Allcock, Richard J.; Almeida, Jeff; Forbes, Simon; Gilbert, James G. R.; Halls, Karen; Harrow, Jennifer L.; Hart, Elizabeth; Howe, Kevin; Jackson, David K.; Palmer, Sophie; Roberts, Anne N.; Sims, Sarah; Stewart, C. Andrew; Traherne, James A.; Trevanion, Steve; Wilming, Laurens; Rogers, Jane; De Jong, Pieter J.; Elliott, John F.; Sawcer, Stephen; Todd, John A.; Trowsdale, John; Beck, Stephan G.
- Año de publicación
- 2008
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- The human major histocompatibility complex (MHC) is contained within about 4 Mb on the short arm of chromosome 6 and is recognised as the most variable region in the human genome. The primary aim of the MHC Haplotype Project was to provide a comprehensively annotated reference sequence of a single, human leukocyte antigen-homozygous MHC haplotype and to use it as a basis against which variations could be assessed from seven other similarly homozygous cell lines, representative of the most common MHC haplotypes in the European population. Comparison of the haplotype sequences, including four haplotypes not previously analysed, resulted in the identification of >44,000 variations, both substitutions and indels (insertions and deletions), which have been submitted to the dbSNP database. The gene annotation uncovered haplotype-specific differences and confirmed the presence of more than 300 loci, including over 160 protein-coding genes. Combined analysis of the variation and annotation datasets revealed 122 gene loci with coding substitutions of which 97 were non-synonymous. The haplotype (A3-B7-DR15; PGF cell line) designated as the new MHC reference sequence, has been incorporated into the human genome assembly (NCBI35 and subsequent builds), and constitutes the largest single-haplotype sequence of the human genome to date. The extensive variation and annotation data derived from the analysis of seven further haplotypes have been made publicly available and provide a framework and resource for future association studies of all MHC-associated diseases and transplant medicine.
Fil: Horton, Roger. Wellcome Trust Sanger Institute; Reino Unido
Fil: Gibson, Richard. Wellcome Trust Sanger Institute; Reino Unido
Fil: Coggill, Penny. Wellcome Trust Sanger Institute; Reino Unido
Fil: Miretti, Marcos Mateo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Universidad Nacional de Misiones. Instituto de Biología Subtropical; Argentina. Wellcome Trust Sanger Institute; Reino Unido
Fil: Allcock, Richard J.. University of Western Australia; Australia
Fil: Almeida, Jeff. Wellcome Trust Sanger Institute; Reino Unido
Fil: Forbes, Simon. Wellcome Trust Sanger Institute; Reino Unido
Fil: Gilbert, James G. R.. Wellcome Trust Sanger Institute; Reino Unido
Fil: Halls, Karen. Wellcome Trust Sanger Institute; Reino Unido. University of Cambridge; Reino Unido
Fil: Harrow, Jennifer L.. Wellcome Trust Sanger Institute; Reino Unido
Fil: Hart, Elizabeth. Wellcome Trust Sanger Institute; Reino Unido
Fil: Howe, Kevin. Cruk Cambridge Research Institute; Reino Unido
Fil: Jackson, David K.. Wellcome Trust Sanger Institute; Reino Unido
Fil: Palmer, Sophie. Wellcome Trust Sanger Institute; Reino Unido
Fil: Roberts, Anne N.. University of Cambridge; Reino Unido
Fil: Sims, Sarah. Wellcome Trust Sanger Institute; Reino Unido
Fil: Stewart, C. Andrew. National Cancer Institute At Frederick; Estados Unidos
Fil: Traherne, James A.. University of Cambridge; Reino Unido
Fil: Trevanion, Steve. Wellcome Trust Sanger Institute; Reino Unido
Fil: Wilming, Laurens. Wellcome Trust Sanger Institute; Reino Unido
Fil: Rogers, Jane. Wellcome Trust Sanger Institute; Reino Unido
Fil: De Jong, Pieter J.. Children's Hospital Oakland Research Institute; Estados Unidos
Fil: Elliott, John F.. University of Alberta; Canadá
Fil: Sawcer, Stephen. University of Cambridge; Reino Unido
Fil: Todd, John A.. University of Cambridge; Reino Unido
Fil: Trowsdale, John. University of Cambridge; Reino Unido
Fil: Beck, Stephan G.. Wellcome Trust Sanger Institute; Reino Unido - Materia
-
Genetic Predisposition to Disease
Haplotype
Major Histocompatibility Complex
Polymorphism
Population Genetics
Retroelement - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
.jpg)
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/60159
Ver los metadatos del registro completo
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Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype ProjectHorton, RogerGibson, RichardCoggill, PennyMiretti, Marcos MateoAllcock, Richard J.Almeida, JeffForbes, SimonGilbert, James G. R.Halls, KarenHarrow, Jennifer L.Hart, ElizabethHowe, KevinJackson, David K.Palmer, SophieRoberts, Anne N.Sims, SarahStewart, C. AndrewTraherne, James A.Trevanion, SteveWilming, LaurensRogers, JaneDe Jong, Pieter J.Elliott, John F.Sawcer, StephenTodd, John A.Trowsdale, JohnBeck, Stephan G.Genetic Predisposition to DiseaseHaplotypeMajor Histocompatibility ComplexPolymorphismPopulation GeneticsRetroelementhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1The human major histocompatibility complex (MHC) is contained within about 4 Mb on the short arm of chromosome 6 and is recognised as the most variable region in the human genome. The primary aim of the MHC Haplotype Project was to provide a comprehensively annotated reference sequence of a single, human leukocyte antigen-homozygous MHC haplotype and to use it as a basis against which variations could be assessed from seven other similarly homozygous cell lines, representative of the most common MHC haplotypes in the European population. Comparison of the haplotype sequences, including four haplotypes not previously analysed, resulted in the identification of >44,000 variations, both substitutions and indels (insertions and deletions), which have been submitted to the dbSNP database. The gene annotation uncovered haplotype-specific differences and confirmed the presence of more than 300 loci, including over 160 protein-coding genes. Combined analysis of the variation and annotation datasets revealed 122 gene loci with coding substitutions of which 97 were non-synonymous. The haplotype (A3-B7-DR15; PGF cell line) designated as the new MHC reference sequence, has been incorporated into the human genome assembly (NCBI35 and subsequent builds), and constitutes the largest single-haplotype sequence of the human genome to date. The extensive variation and annotation data derived from the analysis of seven further haplotypes have been made publicly available and provide a framework and resource for future association studies of all MHC-associated diseases and transplant medicine.Fil: Horton, Roger. Wellcome Trust Sanger Institute; Reino UnidoFil: Gibson, Richard. Wellcome Trust Sanger Institute; Reino UnidoFil: Coggill, Penny. Wellcome Trust Sanger Institute; Reino UnidoFil: Miretti, Marcos Mateo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Universidad Nacional de Misiones. Instituto de Biología Subtropical; Argentina. Wellcome Trust Sanger Institute; Reino UnidoFil: Allcock, Richard J.. University of Western Australia; AustraliaFil: Almeida, Jeff. Wellcome Trust Sanger Institute; Reino UnidoFil: Forbes, Simon. Wellcome Trust Sanger Institute; Reino UnidoFil: Gilbert, James G. R.. Wellcome Trust Sanger Institute; Reino UnidoFil: Halls, Karen. Wellcome Trust Sanger Institute; Reino Unido. University of Cambridge; Reino UnidoFil: Harrow, Jennifer L.. Wellcome Trust Sanger Institute; Reino UnidoFil: Hart, Elizabeth. Wellcome Trust Sanger Institute; Reino UnidoFil: Howe, Kevin. Cruk Cambridge Research Institute; Reino UnidoFil: Jackson, David K.. Wellcome Trust Sanger Institute; Reino UnidoFil: Palmer, Sophie. Wellcome Trust Sanger Institute; Reino UnidoFil: Roberts, Anne N.. University of Cambridge; Reino UnidoFil: Sims, Sarah. Wellcome Trust Sanger Institute; Reino UnidoFil: Stewart, C. Andrew. National Cancer Institute At Frederick; Estados UnidosFil: Traherne, James A.. University of Cambridge; Reino UnidoFil: Trevanion, Steve. Wellcome Trust Sanger Institute; Reino UnidoFil: Wilming, Laurens. Wellcome Trust Sanger Institute; Reino UnidoFil: Rogers, Jane. Wellcome Trust Sanger Institute; Reino UnidoFil: De Jong, Pieter J.. Children's Hospital Oakland Research Institute; Estados UnidosFil: Elliott, John F.. University of Alberta; CanadáFil: Sawcer, Stephen. University of Cambridge; Reino UnidoFil: Todd, John A.. University of Cambridge; Reino UnidoFil: Trowsdale, John. University of Cambridge; Reino UnidoFil: Beck, Stephan G.. Wellcome Trust Sanger Institute; Reino UnidoSpringer2008-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/60159Horton, Roger; Gibson, Richard; Coggill, Penny; Miretti, Marcos Mateo; Allcock, Richard J.; et al.; Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project; Springer; Immunogenetics; 60; 1; 1-2008; 1-180093-7711CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://link.springer.com/article/10.1007/s00251-007-0262-2info:eu-repo/semantics/altIdentifier/doi/10.1007/s00251-007-0262-2info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:52:49Zoai:ri.conicet.gov.ar:11336/60159instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 09:52:49.799CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
| dc.title.none.fl_str_mv |
Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project |
| title |
Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project |
| spellingShingle |
Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project Horton, Roger Genetic Predisposition to Disease Haplotype Major Histocompatibility Complex Polymorphism Population Genetics Retroelement |
| title_short |
Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project |
| title_full |
Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project |
| title_fullStr |
Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project |
| title_full_unstemmed |
Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project |
| title_sort |
Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project |
| dc.creator.none.fl_str_mv |
Horton, Roger Gibson, Richard Coggill, Penny Miretti, Marcos Mateo Allcock, Richard J. Almeida, Jeff Forbes, Simon Gilbert, James G. R. Halls, Karen Harrow, Jennifer L. Hart, Elizabeth Howe, Kevin Jackson, David K. Palmer, Sophie Roberts, Anne N. Sims, Sarah Stewart, C. Andrew Traherne, James A. Trevanion, Steve Wilming, Laurens Rogers, Jane De Jong, Pieter J. Elliott, John F. Sawcer, Stephen Todd, John A. Trowsdale, John Beck, Stephan G. |
| author |
Horton, Roger |
| author_facet |
Horton, Roger Gibson, Richard Coggill, Penny Miretti, Marcos Mateo Allcock, Richard J. Almeida, Jeff Forbes, Simon Gilbert, James G. R. Halls, Karen Harrow, Jennifer L. Hart, Elizabeth Howe, Kevin Jackson, David K. Palmer, Sophie Roberts, Anne N. Sims, Sarah Stewart, C. Andrew Traherne, James A. Trevanion, Steve Wilming, Laurens Rogers, Jane De Jong, Pieter J. Elliott, John F. Sawcer, Stephen Todd, John A. Trowsdale, John Beck, Stephan G. |
| author_role |
author |
| author2 |
Gibson, Richard Coggill, Penny Miretti, Marcos Mateo Allcock, Richard J. Almeida, Jeff Forbes, Simon Gilbert, James G. R. Halls, Karen Harrow, Jennifer L. Hart, Elizabeth Howe, Kevin Jackson, David K. Palmer, Sophie Roberts, Anne N. Sims, Sarah Stewart, C. Andrew Traherne, James A. Trevanion, Steve Wilming, Laurens Rogers, Jane De Jong, Pieter J. Elliott, John F. Sawcer, Stephen Todd, John A. Trowsdale, John Beck, Stephan G. |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Genetic Predisposition to Disease Haplotype Major Histocompatibility Complex Polymorphism Population Genetics Retroelement |
| topic |
Genetic Predisposition to Disease Haplotype Major Histocompatibility Complex Polymorphism Population Genetics Retroelement |
| purl_subject.fl_str_mv |
https://purl.org/becyt/ford/1.6 https://purl.org/becyt/ford/1 |
| dc.description.none.fl_txt_mv |
The human major histocompatibility complex (MHC) is contained within about 4 Mb on the short arm of chromosome 6 and is recognised as the most variable region in the human genome. The primary aim of the MHC Haplotype Project was to provide a comprehensively annotated reference sequence of a single, human leukocyte antigen-homozygous MHC haplotype and to use it as a basis against which variations could be assessed from seven other similarly homozygous cell lines, representative of the most common MHC haplotypes in the European population. Comparison of the haplotype sequences, including four haplotypes not previously analysed, resulted in the identification of >44,000 variations, both substitutions and indels (insertions and deletions), which have been submitted to the dbSNP database. The gene annotation uncovered haplotype-specific differences and confirmed the presence of more than 300 loci, including over 160 protein-coding genes. Combined analysis of the variation and annotation datasets revealed 122 gene loci with coding substitutions of which 97 were non-synonymous. The haplotype (A3-B7-DR15; PGF cell line) designated as the new MHC reference sequence, has been incorporated into the human genome assembly (NCBI35 and subsequent builds), and constitutes the largest single-haplotype sequence of the human genome to date. The extensive variation and annotation data derived from the analysis of seven further haplotypes have been made publicly available and provide a framework and resource for future association studies of all MHC-associated diseases and transplant medicine. Fil: Horton, Roger. Wellcome Trust Sanger Institute; Reino Unido Fil: Gibson, Richard. Wellcome Trust Sanger Institute; Reino Unido Fil: Coggill, Penny. Wellcome Trust Sanger Institute; Reino Unido Fil: Miretti, Marcos Mateo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Universidad Nacional de Misiones. Instituto de Biología Subtropical; Argentina. Wellcome Trust Sanger Institute; Reino Unido Fil: Allcock, Richard J.. University of Western Australia; Australia Fil: Almeida, Jeff. Wellcome Trust Sanger Institute; Reino Unido Fil: Forbes, Simon. Wellcome Trust Sanger Institute; Reino Unido Fil: Gilbert, James G. R.. Wellcome Trust Sanger Institute; Reino Unido Fil: Halls, Karen. Wellcome Trust Sanger Institute; Reino Unido. University of Cambridge; Reino Unido Fil: Harrow, Jennifer L.. Wellcome Trust Sanger Institute; Reino Unido Fil: Hart, Elizabeth. Wellcome Trust Sanger Institute; Reino Unido Fil: Howe, Kevin. Cruk Cambridge Research Institute; Reino Unido Fil: Jackson, David K.. Wellcome Trust Sanger Institute; Reino Unido Fil: Palmer, Sophie. Wellcome Trust Sanger Institute; Reino Unido Fil: Roberts, Anne N.. University of Cambridge; Reino Unido Fil: Sims, Sarah. Wellcome Trust Sanger Institute; Reino Unido Fil: Stewart, C. Andrew. National Cancer Institute At Frederick; Estados Unidos Fil: Traherne, James A.. University of Cambridge; Reino Unido Fil: Trevanion, Steve. Wellcome Trust Sanger Institute; Reino Unido Fil: Wilming, Laurens. Wellcome Trust Sanger Institute; Reino Unido Fil: Rogers, Jane. Wellcome Trust Sanger Institute; Reino Unido Fil: De Jong, Pieter J.. Children's Hospital Oakland Research Institute; Estados Unidos Fil: Elliott, John F.. University of Alberta; Canadá Fil: Sawcer, Stephen. University of Cambridge; Reino Unido Fil: Todd, John A.. University of Cambridge; Reino Unido Fil: Trowsdale, John. University of Cambridge; Reino Unido Fil: Beck, Stephan G.. Wellcome Trust Sanger Institute; Reino Unido |
| description |
The human major histocompatibility complex (MHC) is contained within about 4 Mb on the short arm of chromosome 6 and is recognised as the most variable region in the human genome. The primary aim of the MHC Haplotype Project was to provide a comprehensively annotated reference sequence of a single, human leukocyte antigen-homozygous MHC haplotype and to use it as a basis against which variations could be assessed from seven other similarly homozygous cell lines, representative of the most common MHC haplotypes in the European population. Comparison of the haplotype sequences, including four haplotypes not previously analysed, resulted in the identification of >44,000 variations, both substitutions and indels (insertions and deletions), which have been submitted to the dbSNP database. The gene annotation uncovered haplotype-specific differences and confirmed the presence of more than 300 loci, including over 160 protein-coding genes. Combined analysis of the variation and annotation datasets revealed 122 gene loci with coding substitutions of which 97 were non-synonymous. The haplotype (A3-B7-DR15; PGF cell line) designated as the new MHC reference sequence, has been incorporated into the human genome assembly (NCBI35 and subsequent builds), and constitutes the largest single-haplotype sequence of the human genome to date. The extensive variation and annotation data derived from the analysis of seven further haplotypes have been made publicly available and provide a framework and resource for future association studies of all MHC-associated diseases and transplant medicine. |
| publishDate |
2008 |
| dc.date.none.fl_str_mv |
2008-01 |
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info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
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article |
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publishedVersion |
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http://hdl.handle.net/11336/60159 Horton, Roger; Gibson, Richard; Coggill, Penny; Miretti, Marcos Mateo; Allcock, Richard J.; et al.; Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project; Springer; Immunogenetics; 60; 1; 1-2008; 1-18 0093-7711 CONICET Digital CONICET |
| url |
http://hdl.handle.net/11336/60159 |
| identifier_str_mv |
Horton, Roger; Gibson, Richard; Coggill, Penny; Miretti, Marcos Mateo; Allcock, Richard J.; et al.; Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project; Springer; Immunogenetics; 60; 1; 1-2008; 1-18 0093-7711 CONICET Digital CONICET |
| dc.language.none.fl_str_mv |
eng |
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eng |
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Springer |
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Springer |
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