Identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci

Abstract Glycans are biologically important structures synthesised by glycosyltransferase (GT) enzymes. Disruptive genetic null variants in GT genes can lead to serious illness but benign phenotypes are also seen, including antigenic differences on the red blood cell (RBC) surface, giving rise to bl...

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Main Authors: Magnus Jöud, Mattias Möller, Martin L. Olsson
Format: Article
Language:English
Published: Nature Publishing Group 2018-04-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-018-24445-5
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spelling doaj-fa31ee5286a445bca22b006c26b48c182020-12-08T05:47:22ZengNature Publishing GroupScientific Reports2045-23222018-04-018111010.1038/s41598-018-24445-5Identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group lociMagnus Jöud0Mattias Möller1Martin L. Olsson2Hematology and Transfusion Medicine, Department of Laboratory Medicine, Lund UniversityHematology and Transfusion Medicine, Department of Laboratory Medicine, Lund UniversityHematology and Transfusion Medicine, Department of Laboratory Medicine, Lund UniversityAbstract Glycans are biologically important structures synthesised by glycosyltransferase (GT) enzymes. Disruptive genetic null variants in GT genes can lead to serious illness but benign phenotypes are also seen, including antigenic differences on the red blood cell (RBC) surface, giving rise to blood groups. To characterise known and potential carbohydrate blood group antigens without a known underlying gene, we searched public databases for human GT loci and investigated their variation in the 1000 Genomes Project (1000 G). We found 244 GT genes, distributed over 44 families. All but four GT genes had missense variants or other variants predicted to alter the amino acid sequence, and 149 GT genes (61%) had variants expected to cause null alleles, often associated with antigen-negative blood group phenotypes. In RNA-Seq data generated from erythroid cells, 155 GT genes were expressed at a transcript level comparable to, or higher than, known carbohydrate blood group loci. Filtering for GT genes predicted to cause a benign phenotype, a set of 30 genes remained, 16 of which had variants in 1000 G expected to result in null alleles. Our results identify potential blood group loci and could serve as a basis for characterisation of the genetic background underlying carbohydrate RBC antigens.https://doi.org/10.1038/s41598-018-24445-5
collection DOAJ
language English
format Article
sources DOAJ
author Magnus Jöud
Mattias Möller
Martin L. Olsson
spellingShingle Magnus Jöud
Mattias Möller
Martin L. Olsson
Identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci
Scientific Reports
author_facet Magnus Jöud
Mattias Möller
Martin L. Olsson
author_sort Magnus Jöud
title Identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci
title_short Identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci
title_full Identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci
title_fullStr Identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci
title_full_unstemmed Identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci
title_sort identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci
publisher Nature Publishing Group
series Scientific Reports
issn 2045-2322
publishDate 2018-04-01
description Abstract Glycans are biologically important structures synthesised by glycosyltransferase (GT) enzymes. Disruptive genetic null variants in GT genes can lead to serious illness but benign phenotypes are also seen, including antigenic differences on the red blood cell (RBC) surface, giving rise to blood groups. To characterise known and potential carbohydrate blood group antigens without a known underlying gene, we searched public databases for human GT loci and investigated their variation in the 1000 Genomes Project (1000 G). We found 244 GT genes, distributed over 44 families. All but four GT genes had missense variants or other variants predicted to alter the amino acid sequence, and 149 GT genes (61%) had variants expected to cause null alleles, often associated with antigen-negative blood group phenotypes. In RNA-Seq data generated from erythroid cells, 155 GT genes were expressed at a transcript level comparable to, or higher than, known carbohydrate blood group loci. Filtering for GT genes predicted to cause a benign phenotype, a set of 30 genes remained, 16 of which had variants in 1000 G expected to result in null alleles. Our results identify potential blood group loci and could serve as a basis for characterisation of the genetic background underlying carbohydrate RBC antigens.
url https://doi.org/10.1038/s41598-018-24445-5
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AT martinlolsson identificationofhumanglycosyltransferasegenesexpressedinerythroidcellspredictspotentialcarbohydratebloodgrouploci
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