Sökning: WFRF:(Westman Julia) >
Identification of a...
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Thuresson, BrittLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine
(författare)
Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups.
- Artikel/kapitelEngelska2011
Förlag, utgivningsår, omfång ...
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American Society of Hematology,2011
Nummerbeteckningar
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LIBRIS-ID:oai:lup.lub.lu.se:19f6ba2e-125c-4696-bbf5-f91d93a768cd
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https://lup.lub.lu.se/record/1710811URI
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https://doi.org/10.1182/blood-2010-08-301333DOI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:art swepub-publicationtype
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Ämneskategori:ref swepub-contenttype
Anmärkningar
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The A4GALT locus encodes a glycosyltransferase that synthesizes the terminal Galα1-4Gal of the P(k)(Gb3/CD77) glycosphingolipid, important in transfusion medicine, obstetrics and pathogen susceptibility. Critical nucleotide changes in A4GALT not only abolish P(k) formation but also another Galα1-4Gal-defined antigen, P1, which belongs to the only blood group system for which the responsible locus remains undefined. Since known A4GALT polymorphisms do not explain the P1-P(k)+ phenotype, P(2), we set out to elucidate the genetic basis of P(1)/P(2). Despite marked differences (P(1)>P(2)) in A4GALT transcript levels in blood, luciferase experiments showed no difference between P(1)/P(2)-related promoter sequences. Investigation of A4GALT-mRNA in cultured human bone marrow cells revealed novel transcripts containing only the non-coding exon 1 and a sequence (here termed exon 2a) from intron 1. These 5'-capped transcripts include poly-A tails and 3 polymorphic sites, one of which was P(1)/P(2)-specific among >200 donors and opens a short reading frame in P(2) alleles. We exploited these data to devise the first genotyping assays to predict P1 status. P(1)/P(2) genotypes correlated with both transcript levels and P1/P(k) expression on red cells. Thus, P(1) zygosity partially explains the well-known interindividual variation in P1 strength. Future investigations need to focus on regulatory mechanisms underlying P1 synthesis.
Ämnesord och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Westman, JuliaLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Transfusionsmedicin,Forskargrupper vid Lunds universitet,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine,Transfusion Medicine,Lund University Research Groups(Swepub:lu)med-jlw
(författare)
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Olsson, Martin LLund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Transfusionsmedicin,Forskargrupper vid Lunds universitet,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine,Transfusion Medicine,Lund University Research Groups(Swepub:lu)labm-mol
(författare)
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Avdelningen för hematologi och transfusionsmedicinInstitutionen för laboratoriemedicin
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Blood: American Society of Hematology117:2, s. 678-6871528-00200006-4971
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