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dc.contributor.author
Horton, Roger
dc.contributor.author
Gibson, Richard
dc.contributor.author
Coggill, Penny
dc.contributor.author
Miretti, Marcos Mateo
dc.contributor.author
Allcock, Richard J.
dc.contributor.author
Almeida, Jeff
dc.contributor.author
Forbes, Simon
dc.contributor.author
Gilbert, James G. R.
dc.contributor.author
Halls, Karen
dc.contributor.author
Harrow, Jennifer L.
dc.contributor.author
Hart, Elizabeth
dc.contributor.author
Howe, Kevin
dc.contributor.author
Jackson, David K.
dc.contributor.author
Palmer, Sophie
dc.contributor.author
Roberts, Anne N.
dc.contributor.author
Sims, Sarah
dc.contributor.author
Stewart, C. Andrew
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Traherne, James A.
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Trevanion, Steve
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Wilming, Laurens
dc.contributor.author
Rogers, Jane
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De Jong, Pieter J.
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Elliott, John F.
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Sawcer, Stephen
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Todd, John A.
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Trowsdale, John
dc.contributor.author
Beck, Stephan G.
dc.date.available
2018-09-18T20:18:19Z
dc.date.issued
2008-01
dc.identifier.citation
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
dc.identifier.issn
0093-7711
dc.identifier.uri
http://hdl.handle.net/11336/60159
dc.description.abstract
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. © 2007 The Author(s).
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Springer
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Genetic Predisposition to Disease
dc.subject
Haplotype
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Major Histocompatibility Complex
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Polymorphism
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Population Genetics
dc.subject
Retroelement
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Genética y Herencia
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Ciencias Biológicas
dc.subject.classification
CIENCIAS NATURALES Y EXACTAS
dc.title
Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-09-18T14:05:13Z
dc.journal.volume
60
dc.journal.number
1
dc.journal.pagination
1-18
dc.journal.pais
Alemania
dc.description.fil
Fil: Horton, Roger. Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Gibson, Richard. Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Coggill, Penny. Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
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
dc.description.fil
Fil: Allcock, Richard J.. University of Western Australia; Australia
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Fil: Almeida, Jeff. Wellcome Trust Sanger Institute; Reino Unido
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Fil: Forbes, Simon. Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Gilbert, James G. R.. Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Halls, Karen. Wellcome Trust Sanger Institute; Reino Unido. University of Cambridge; Reino Unido
dc.description.fil
Fil: Harrow, Jennifer L.. Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Hart, Elizabeth. Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Howe, Kevin. Cruk Cambridge Research Institute; Reino Unido
dc.description.fil
Fil: Jackson, David K.. Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Palmer, Sophie. Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Roberts, Anne N.. University of Cambridge; Reino Unido
dc.description.fil
Fil: Sims, Sarah. Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Stewart, C. Andrew. National Cancer Institute At Frederick; Estados Unidos
dc.description.fil
Fil: Traherne, James A.. University of Cambridge; Reino Unido
dc.description.fil
Fil: Trevanion, Steve. Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Wilming, Laurens. Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: Rogers, Jane. Wellcome Trust Sanger Institute; Reino Unido
dc.description.fil
Fil: De Jong, Pieter J.. Children's Hospital Oakland Research Institute; Estados Unidos
dc.description.fil
Fil: Elliott, John F.. University of Alberta; Canadá
dc.description.fil
Fil: Sawcer, Stephen. University of Cambridge; Reino Unido
dc.description.fil
Fil: Todd, John A.. University of Cambridge; Reino Unido
dc.description.fil
Fil: Trowsdale, John. University of Cambridge; Reino Unido
dc.description.fil
Fil: Beck, Stephan G.. Wellcome Trust Sanger Institute; Reino Unido
dc.journal.title
Immunogenetics
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1007/s00251-007-0262-2
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