Three novel Er blood group system alleles and insights from protein modeling.
blood group genomics
immunohematology (RBC serology, blood groups)
Journal
Transfusion
ISSN: 1537-2995
Titre abrégé: Transfusion
Pays: United States
ID NLM: 0417360
Informations de publication
Date de publication:
25 Jul 2024
25 Jul 2024
Historique:
revised:
23
05
2024
received:
03
01
2024
accepted:
04
07
2024
medline:
26
7
2024
pubmed:
26
7
2024
entrez:
25
7
2024
Statut:
aheadofprint
Résumé
The Er blood group system was recently shown to be defined by PIEZO1. The system consists of high prevalence antigens Er We investigated PIEZO1 in four Er(a-) individuals who presented with anti-Er One individual was homozygous for the reported ER*B. A second had a novel heterozygous nonsense variant c.3331C>T p.(Gln1111*), but a second allelic variant was not found. In the remaining two individuals, two different heterozygous novel missense variants, c.7184C>T p.(Ala2395Val) or c.7195G>A p.(Gly2399Ser), were in trans to the reported c.7180G>A variant, ER*B. AlphaFold2 protein modeling showed that each of the missense variants is predicted to encode an altered structural conformation near Er Investigation of archived samples resulted in the identification of three novel PIEZO1 alleles including a predicted Er
Sections du résumé
BACKGROUND
BACKGROUND
The Er blood group system was recently shown to be defined by PIEZO1. The system consists of high prevalence antigens Er
STUDY DESIGN AND METHODS
METHODS
We investigated PIEZO1 in four Er(a-) individuals who presented with anti-Er
RESULTS
RESULTS
One individual was homozygous for the reported ER*B. A second had a novel heterozygous nonsense variant c.3331C>T p.(Gln1111*), but a second allelic variant was not found. In the remaining two individuals, two different heterozygous novel missense variants, c.7184C>T p.(Ala2395Val) or c.7195G>A p.(Gly2399Ser), were in trans to the reported c.7180G>A variant, ER*B. AlphaFold2 protein modeling showed that each of the missense variants is predicted to encode an altered structural conformation near Er
CONCLUSIONS
CONCLUSIONS
Investigation of archived samples resulted in the identification of three novel PIEZO1 alleles including a predicted Er
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 AABB.
Références
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