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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Autores principales:	Magnus Jöud, Mattias Möller, Martin L. Olsson
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/fa31ee5286a445bca22b006c26b48c18
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spelling	oai:doaj.org-article:fa31ee5286a445bca22b006c26b48c182021-12-02T15:08:56ZIdentification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci10.1038/s41598-018-24445-52045-2322https://doaj.org/article/fa31ee5286a445bca22b006c26b48c182018-04-01T00:00:00Zhttps://doi.org/10.1038/s41598-018-24445-5https://doaj.org/toc/2045-2322Abstract 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.Magnus JöudMattias MöllerMartin L. OlssonNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Magnus Jöud Mattias Möller Martin L. Olsson Identification of human glycosyltransferase genes expressed in erythroid cells predicts potential carbohydrate blood group loci
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.
format	article
author	Magnus Jöud Mattias Möller Martin L. Olsson
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 Portfolio
publishDate	2018
url	https://doaj.org/article/fa31ee5286a445bca22b006c26b48c18
work_keys_str_mv	AT magnusjoud identificationofhumanglycosyltransferasegenesexpressedinerythroidcellspredictspotentialcarbohydratebloodgrouploci AT mattiasmoller identificationofhumanglycosyltransferasegenesexpressedinerythroidcellspredictspotentialcarbohydratebloodgrouploci AT martinlolsson identificationofhumanglycosyltransferasegenesexpressedinerythroidcellspredictspotentialcarbohydratebloodgrouploci
_version_	1718387976587706368

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

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