PIGG defines the Emm blood group system

Emm is a high incidence red cell antigen with eight previously reported Emm− probands. Anti-Emm appears to be naturally occurring yet responsible for a clinically significant acute hemolytic transfusion reaction. Previous work suggests that Emm is located on a GPI-anchored protein, but the antigenic...

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Bibliographic Details
Published in:Scientific reports 2021-09, Vol.11 (1), p.18545-18545, Article 18545
Main Authors: Lane, William J., Aeschlimann, Judith, Vege, Sunitha, Lomas-Francis, Christine, Burgos, Anna, Mah, Helen H., Halls, Justin B. L., Baeck, Peter, Ligthart, Peter C., Veldhuisen, Barbera, Shah, Ripal J., Joshi, Sanmukh R., Westhoff, Connie M.
Format: Article
Language:English
Subjects:
631/250/232/1473
631/61/212/2166
692/308/2056
692/4017
Antigens
Blood groups
Epitopes
Ethanolamine
Exons
Gene deletion
Genomes
Humanities and Social Sciences
Insertion
Mannose
multidisciplinary
Nonsense mutation
Phenotypes
Science
Science (multidisciplinary)
Stop codon
Transfusion
Whole genome sequencing
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Summary:Emm is a high incidence red cell antigen with eight previously reported Emm− probands. Anti-Emm appears to be naturally occurring yet responsible for a clinically significant acute hemolytic transfusion reaction. Previous work suggests that Emm is located on a GPI-anchored protein, but the antigenic epitope and genetic basis have been elusive. We investigated samples from a South Asian Indian family with two Emm− brothers by whole genome sequencing (WGS). Additionally, samples from four unrelated Emm− individuals were investigated for variants in the candidate gene. Filtering for homozygous variants found in the Emm− brothers and by gnomAD frequency of 
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-021-98090-w