A mutation map for human glycoside hydrolase genes.
WES
congenital disorders of glycoside hydrolysis
nsSNV
Journal
Glycobiology
ISSN: 1460-2423
Titre abrégé: Glycobiology
Pays: England
ID NLM: 9104124
Informations de publication
Date de publication:
16 07 2020
16 07 2020
Historique:
received:
27
08
2019
revised:
31
01
2020
accepted:
04
02
2020
pubmed:
11
2
2020
medline:
21
10
2021
entrez:
11
2
2020
Statut:
ppublish
Résumé
Glycoside hydrolases (GHs) are found in all domains of life, and at least 87 distinct genes encoding proteins related to GHs are found in the human genome. GHs serve diverse functions from digestion of dietary polysaccharides to breakdown of intracellular oligosaccharides, glycoproteins, proteoglycans and glycolipids. Congenital disorders of GHs (CDGHs) represent more than 30 rare diseases caused by mutations in one of the GH genes. We previously used whole-exome sequencing of a homogenous Danish population of almost 2000 individuals to probe the incidence of deleterious mutations in the human glycosyltransferases (GTs) and developed a mutation map of human GT genes (GlyMAP-I). While deleterious disease-causing mutations in the GT genes were very rare, and in many cases lethal, we predicted deleterious mutations in GH genes to be less rare and less severe given the higher incidence of CDGHs reported worldwide. To probe the incidence of GH mutations, we constructed a mutation map of human GH-related genes (GlyMAP-II) using the Danish WES data, and correlating this with reported disease-causing mutations confirmed the higher prevalence of disease-causing mutations in several GH genes compared to GT genes. We identified 76 novel nonsynonymous single-nucleotide variations (nsSNVs) in 32 GH genes that have not been associated with a CDGH phenotype, and we experimentally validated two novel potentially damaging nsSNVs in the congenital sucrase-isomaltase deficiency gene, SI. Our study provides a global view of human GH genes and disease-causing mutations and serves as a discovery tool for novel damaging nsSNVs in CDGHs.
Identifiants
pubmed: 32039448
pii: 5731471
doi: 10.1093/glycob/cwaa010
pmc: PMC7372926
doi:
Substances chimiques
Proteome
0
Glycoside Hydrolases
EC 3.2.1.-
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
500-515Subventions
Organisme : NIDDK NIH HHS
ID : R01 DK099551
Pays : United States
Informations de copyright
© The Author(s) 2020. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
Références
PLoS One. 2014 Aug 25;9(8):e104229
pubmed: 25153125
Glycobiology. 2015 Feb;25(2):211-24
pubmed: 25267602
EMBO J. 1991 Jan;10(1):51-8
pubmed: 1703489
Glycobiology. 2015 Aug;25(8):836-44
pubmed: 25900930
J Biol Chem. 2004 Aug 27;279(35):37021-9
pubmed: 15213228
Biochem J. 1991 Dec 1;280 ( Pt 2):309-16
pubmed: 1747104
PLoS One. 2012;7(10):e46688
pubmed: 23056405
J Biotechnol. 2016 Sep 10;233:74-83
pubmed: 27374403
Nat Genet. 1994 Apr;6(4):420-5
pubmed: 8054986
Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3393-8
pubmed: 23401531
Glycobiology. 2018 May 1;28(5):284-294
pubmed: 29579191
Biomed Res Int. 2014;2014:495764
pubmed: 25126564
Science. 2015 Jan 23;347(6220):1260419
pubmed: 25613900
JAMA. 2000 Dec 6;284(21):2771-5
pubmed: 11105184
J Neurochem. 2002 Nov;83(3):481-9
pubmed: 12390510
Gut. 2020 Aug;69(8):1538-1539
pubmed: 31331993
Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):145-57
pubmed: 25987169
J Cell Biol. 2012 Nov 26;199(5):723-34
pubmed: 23185029
Nat Genet. 2010 Nov;42(11):969-72
pubmed: 20890277
Annu Rev Genomics Hum Genet. 2001;2:129-51
pubmed: 11701646
Nat Rev Mol Cell Biol. 2004 Jul;5(7):554-65
pubmed: 15232573
J Mol Biol. 2016 Aug 14;428(16):3166-3182
pubmed: 27040397
Am J Hum Genet. 2013 Dec 5;93(6):1072-86
pubmed: 24290377
Science. 2007 Jun 15;316(5831):1615-8
pubmed: 17569864
Diabetologia. 2013 Feb;56(2):298-310
pubmed: 23160641
Int J Mol Sci. 2017 Feb 17;18(2):
pubmed: 28218669
Cell. 2019 Mar 21;177(1):70-84
pubmed: 30901550
J Biol Chem. 2009 Oct 23;284(43):29666-76
pubmed: 19706595
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
J Inherit Metab Dis. 2017 Jul;40(4):569-586
pubmed: 28484880
Hum Mutat. 1997;10(4):268-79
pubmed: 9338580
Hum Genet. 2017 Jun;136(6):665-677
pubmed: 28349240
Biochim Biophys Acta Gen Subj. 2017 Oct;1861(10):2479-2484
pubmed: 28602513
Annu Rev Biochem. 2003;72:643-91
pubmed: 12676797
Eur J Med Genet. 2018 Nov;61(11):643-663
pubmed: 29079546
Am J Med Genet A. 2010 Apr;152A(4):896-903
pubmed: 20358599
Biochem J. 2000 Jul 1;349(Pt 1):343-51
pubmed: 10861246
Trends Genet. 2018 Jun;34(6):466-476
pubmed: 29606283
Nat Rev Microbiol. 2013 Jul;11(7):497-504
pubmed: 23748339
Nat Methods. 2010 Apr;7(4):248-9
pubmed: 20354512
Biochem Biophys Res Commun. 1977 Jun 20;76(4):1194-201
pubmed: 901470
Am J Hum Genet. 2018 Apr 5;102(4):609-619
pubmed: 29625023
Nature. 2006 Dec 7;444(7120):770-4
pubmed: 17086194
JAMA. 1999 Jan 20;281(3):249-54
pubmed: 9918480
Neuron. 2018 Jun 27;98(6):1116-1123.e5
pubmed: 29910000
Genet Med. 2017 Feb;19(2):160-168
pubmed: 27388694
Gastroenterology. 2009 Mar;136(3):883-92
pubmed: 19121318
Biochem J. 1998 Mar 1;330 ( Pt 2):641-50
pubmed: 9480870
Nature. 2013 Jan 10;493(7431):216-20
pubmed: 23201682
Genet Med. 2014 Oct;16(10):751-8
pubmed: 24651605
Expert Opin Biol Ther. 2011 Sep;11(9):1153-67
pubmed: 21548845
Nat Protoc. 2009;4(7):1073-81
pubmed: 19561590
Nucleic Acids Res. 2014 Jan;42(Database issue):D490-5
pubmed: 24270786
Orphanet J Rare Dis. 2016 Dec 1;11(1):162
pubmed: 27906067