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A Thr552 -->Ile substitution in erythroid band 3 gives rise to the Warrior blood group antigen
P Jarolim, JL Murray, HL Rubin, G Coghlan, T Zelinski
Jazyk angličtina Země Spojené státy americké
Typ dokumentu práce podpořená grantem, Research Support, U.S. Gov't, P.H.S.
Grantová podpora
IZ4118
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Část
Zdroj
NLK
Wiley Online Library (archiv)
od 1997-01-01 do 2012-12-31
PubMed
9111277
Knihovny.cz E-zdroje
- MeSH
- antigeny krevních skupin * imunologie MeSH
- antiportéry genetika MeSH
- bodová mutace * MeSH
- erytrocyty - protein 1 vyměňující anionty * genetika MeSH
- isoantigeny MeSH
- isoleucin genetika MeSH
- lidé MeSH
- polymerázová řetězová reakce MeSH
- polymorfismus konformace jednovláknové DNA MeSH
- posttranskripční úpravy RNA MeSH
- sekvenční analýza DNA MeSH
- sírany metabolismus MeSH
- threonin genetika MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- práce podpořená grantem MeSH
- Research Support, U.S. Gov't, P.H.S. MeSH
BACKGROUND: Recent family studies established that the low-incidence red cell antigen WARR is not part of the MNS, Lutheran, Lewis, Duffy, Kidd, Xg, Chido/ Rodgers, Kx, or Gerbich blood group systems. Continued serologic and genetic studies of WARR suggest that it is carried on erythroid band 3. STUDY DESIGN AND METHODS: To test the hypothesis that expression of WARR is controlled by the anion exchanger 1 gene (AE1), AE1 intronic primers that flank the exons encoding the membrane domain of band 3 were prepared. Polymerase chain reaction-amplified products corresponding to exons 11-20 of AE1 were analyzed for single-strand conformational polymorphism (SSCP) in DNA from WARR-positive and WARR-negative individuals. RESULTS: An SSCP was detected in exon 14. Subsequent sequencing revealed a C-->T mutation in codon 552 that leads to a Thr-->Ile substitution. Because the C-->T mutation eliminates a Bbs I restriction site, it was possible to confirm the phenotypes of all family members. To study the possible effect of the Thr552-->Ile substitution on the expression and function of band 3, polymerase chain reaction-amplified reverse-transcribed reticulocyte mRNA was digested with Bbs I. Both alleles of band 3 mRNA were detected in similar quantities, which suggests that the substitution underlying WARR did not interfere with mRNA stability. Comparison of sodium dodecyl sulfate-polyacrylamide gel electrophoretic mobility and size patterns revealed no difference between proteins isolated from WARR-positive and WARR-negative red cells. Further, the presence of WARR did not alter the di-isothiocyano-dihydrostilbene disulfonate (DIDS)-inhibitable influx of radiolabeled sulfate. CONCLUSION: Although it appears inconsequential to the function of band 3, the red cell polymorphism known as WARR is controlled by AE1. WARR should be therefore included in the Diego blood group system.
Boston University School of Medicíne Boston
Department of Bíomedical Research St Elizabeth's Medical Center Boston
Institute of Hematology and Blood Transfusion Prague Czech Republic
Rh Laboratory Department of Pediatrics and Child Health University of Manitoba
Literatura
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- $a BACKGROUND: Recent family studies established that the low-incidence red cell antigen WARR is not part of the MNS, Lutheran, Lewis, Duffy, Kidd, Xg, Chido/ Rodgers, Kx, or Gerbich blood group systems. Continued serologic and genetic studies of WARR suggest that it is carried on erythroid band 3. STUDY DESIGN AND METHODS: To test the hypothesis that expression of WARR is controlled by the anion exchanger 1 gene (AE1), AE1 intronic primers that flank the exons encoding the membrane domain of band 3 were prepared. Polymerase chain reaction-amplified products corresponding to exons 11-20 of AE1 were analyzed for single-strand conformational polymorphism (SSCP) in DNA from WARR-positive and WARR-negative individuals. RESULTS: An SSCP was detected in exon 14. Subsequent sequencing revealed a C-->T mutation in codon 552 that leads to a Thr-->Ile substitution. Because the C-->T mutation eliminates a Bbs I restriction site, it was possible to confirm the phenotypes of all family members. To study the possible effect of the Thr552-->Ile substitution on the expression and function of band 3, polymerase chain reaction-amplified reverse-transcribed reticulocyte mRNA was digested with Bbs I. Both alleles of band 3 mRNA were detected in similar quantities, which suggests that the substitution underlying WARR did not interfere with mRNA stability. Comparison of sodium dodecyl sulfate-polyacrylamide gel electrophoretic mobility and size patterns revealed no difference between proteins isolated from WARR-positive and WARR-negative red cells. Further, the presence of WARR did not alter the di-isothiocyano-dihydrostilbene disulfonate (DIDS)-inhibitable influx of radiolabeled sulfate. CONCLUSION: Although it appears inconsequential to the function of band 3, the red cell polymorphism known as WARR is controlled by AE1. WARR should be therefore included in the Diego blood group system.
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