Accès libre

The P1PK blood group system: revisited and resolved

L. Stenfelt
L. Stenfelt
, 
Å. Hellberg
Å. Hellberg
, 
J.S. Westman
J.S. Westman
 et 
M.L. Olsson
M.L. Olsson
   | 01 janv. 2020
Immunohematology's Cover Image
À propos de cet article
Article précédent
Article suivant
Citez
Article Category: article
Publié en ligne: 01 janv. 2020
Pages: 99 - 103
DOI: https://doi.org/10.21307/immunohematology-2020-048
Mots clés
© 2020 L. Stenfelt et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Fig. 1

Transcriptional regulation determines the two major phenotypes in the P1PK blood group system, P1 and P2. A schematic illustration (not to scale) of the A4GALT gene coding for the P1Pk synthase is shown. The single nucleotide variant rs5751348:G>T disrupts a transcription factor binding motif, since EGR1 and RUNX1 (and possibly KLF1) bind to the P1 allele over the rs5751348:G and surrounding site, but have lowered affinity to the P2 allele carrying the variant. The transcription factors binding to the P1 allele enhance gene expression, resulting in increased levels of the P1Pk synthase. The more abundant enzymes in P1 individuals will then synthesize both the Pk and P1 antigens, whereas the P2 allele will only express enough P1Pk synthase to make the Pk antigen, and that to a lesser extent. EGR1 = early growth response 1; RUNX1 = Runt-related transcription factor; 1 KLF1 = Krüppel-like factor 1; Gal = galactose; Glc = glucose; GlcNAc = N-acetylglucosamine.
Transcriptional regulation determines the two major phenotypes in the P1PK blood group system, P1 and P2. A schematic illustration (not to scale) of the A4GALT gene coding for the P1Pk synthase is shown. The single nucleotide variant rs5751348:G>T disrupts a transcription factor binding motif, since EGR1 and RUNX1 (and possibly KLF1) bind to the P1 allele over the rs5751348:G and surrounding site, but have lowered affinity to the P2 allele carrying the variant. The transcription factors binding to the P1 allele enhance gene expression, resulting in increased levels of the P1Pk synthase. The more abundant enzymes in P1 individuals will then synthesize both the Pk and P1 antigens, whereas the P2 allele will only express enough P1Pk synthase to make the Pk antigen, and that to a lesser extent. EGR1 = early growth response 1; RUNX1 = Runt-related transcription factor; 1 KLF1 = Krüppel-like factor 1; Gal = galactose; Glc = glucose; GlcNAc = N-acetylglucosamine.
eISSN:
1930-3955
Langue:
Anglais
Périodicité:
4 fois par an
Sujets de la revue:
Medicine, Clinical Medicine, Laboratory Medicine
RSS Feed de la revue