Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery

Selenium is incorporated into selenoproteins as the 21st amino acid selenocysteine (Sec). There are 25 selenoproteins encoded in the human genome, and their synthesis requires a dedicated machinery. Most selenoproteins are oxidoreductases with important functions in human health. A number of disorde...

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Autores principales:	Didac Santesmasses, Vadim N. Gladyshev
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	selenium selenoprotein selenocysteine genetic variance human disease Biology (General) QH301-705.5 Chemistry QD1-999
Acceso en línea:	https://doaj.org/article/70f530f1d97a43099549f2a960215f63
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spelling	oai:doaj.org-article:70f530f1d97a43099549f2a960215f632021-11-11T17:04:25ZPathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery10.3390/ijms2221115931422-00671661-6596https://doaj.org/article/70f530f1d97a43099549f2a960215f632021-10-01T00:00:00Zhttps://www.mdpi.com/1422-0067/22/21/11593https://doaj.org/toc/1661-6596https://doaj.org/toc/1422-0067Selenium is incorporated into selenoproteins as the 21st amino acid selenocysteine (Sec). There are 25 selenoproteins encoded in the human genome, and their synthesis requires a dedicated machinery. Most selenoproteins are oxidoreductases with important functions in human health. A number of disorders have been associated with deficiency of selenoproteins, caused by mutations in selenoprotein genes or Sec machinery genes. We discuss mutations that are known to cause disease in humans and report their allele frequencies in the general population. The occurrence of protein-truncating variants in the same genes is also presented. We provide an overview of pathogenic variants in selenoproteins genes from a population genomics perspective.Didac SantesmassesVadim N. GladyshevMDPI AGarticleseleniumselenoproteinselenocysteinegenetic variancehuman diseaseBiology (General)QH301-705.5ChemistryQD1-999ENInternational Journal of Molecular Sciences, Vol 22, Iss 11593, p 11593 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	selenium selenoprotein selenocysteine genetic variance human disease Biology (General) QH301-705.5 Chemistry QD1-999
spellingShingle	selenium selenoprotein selenocysteine genetic variance human disease Biology (General) QH301-705.5 Chemistry QD1-999 Didac Santesmasses Vadim N. Gladyshev Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery
description	Selenium is incorporated into selenoproteins as the 21st amino acid selenocysteine (Sec). There are 25 selenoproteins encoded in the human genome, and their synthesis requires a dedicated machinery. Most selenoproteins are oxidoreductases with important functions in human health. A number of disorders have been associated with deficiency of selenoproteins, caused by mutations in selenoprotein genes or Sec machinery genes. We discuss mutations that are known to cause disease in humans and report their allele frequencies in the general population. The occurrence of protein-truncating variants in the same genes is also presented. We provide an overview of pathogenic variants in selenoproteins genes from a population genomics perspective.
format	article
author	Didac Santesmasses Vadim N. Gladyshev
author_facet	Didac Santesmasses Vadim N. Gladyshev
author_sort	Didac Santesmasses
title	Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery
title_short	Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery
title_full	Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery
title_fullStr	Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery
title_full_unstemmed	Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery
title_sort	pathogenic variants in selenoproteins and selenocysteine biosynthesis machinery
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/70f530f1d97a43099549f2a960215f63
work_keys_str_mv	AT didacsantesmasses pathogenicvariantsinselenoproteinsandselenocysteinebiosynthesismachinery AT vadimngladyshev pathogenicvariantsinselenoproteinsandselenocysteinebiosynthesismachinery
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Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery

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