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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| Format: | Article |
| Language: | English |
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MDPI AG
2021-10-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/22/21/11593 |
| _version_ | 1797512428593872896 |
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| author | Didac Santesmasses Vadim N. Gladyshev |
| author_facet | Didac Santesmasses Vadim N. Gladyshev |
| author_sort | Didac Santesmasses |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-10T06:01:41Z |
| format | Article |
| id | doaj.art-70f530f1d97a43099549f2a960215f63 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T06:01:41Z |
| publishDate | 2021-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-70f530f1d97a43099549f2a960215f632023-11-22T20:54:43ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672021-10-0122211159310.3390/ijms222111593Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis MachineryDidac Santesmasses0Vadim N. Gladyshev1Division of Genetics, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USADivision of Genetics, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USASelenium 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.https://www.mdpi.com/1422-0067/22/21/11593seleniumselenoproteinselenocysteinegenetic variancehuman disease |
| spellingShingle | Didac Santesmasses Vadim N. Gladyshev Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery International Journal of Molecular Sciences selenium selenoprotein selenocysteine genetic variance human disease |
| title | 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_short | Pathogenic Variants in Selenoproteins and Selenocysteine Biosynthesis Machinery |
| title_sort | pathogenic variants in selenoproteins and selenocysteine biosynthesis machinery |
| topic | selenium selenoprotein selenocysteine genetic variance human disease |
| url | https://www.mdpi.com/1422-0067/22/21/11593 |
| work_keys_str_mv | AT didacsantesmasses pathogenicvariantsinselenoproteinsandselenocysteinebiosynthesismachinery AT vadimngladyshev pathogenicvariantsinselenoproteinsandselenocysteinebiosynthesismachinery |