Why do humans need thrombospondin-1?
Essential genes
Human genetic variation
Loss of function variants
Matricellular proteins
Thrombospondin-1
Journal
Journal of cell communication and signaling
ISSN: 1873-9601
Titre abrégé: J Cell Commun Signal
Pays: Netherlands
ID NLM: 101308338
Informations de publication
Date de publication:
Sep 2023
Sep 2023
Historique:
received:
16
12
2022
accepted:
07
01
2023
medline:
24
1
2023
pubmed:
24
1
2023
entrez:
23
1
2023
Statut:
ppublish
Résumé
Matricellular proteins comprise several families of secreted proteins that function in higher animals at the interface between cells and their surrounding extracellular matrix. Targeted gene disruptions that result in loss of viability in mice have revealed critical roles for several matricellular proteins in murine embryonic development, including two members of the cellular communication network (CCN) gene family. In contrast, mice lacking single or multiple members of the thrombospondin (THBS) gene family remain viable and fertile. The frequency of loss of function mutants, identified using human deep exome sequencing data, provided evidence that some of the essential genes in mice, including Ccn1, are also essential genes in humans. However, a deficit in loss of function mutants in humans indicated that THBS1 is also highly loss-intolerant. In addition to roles in embryonic development or adult reproduction, genes may be loss-intolerant in humans because their function is needed to survive environmental stresses that are encountered between birth and reproduction. Laboratory mice live in a protected environment that lacks the exposures to pathogens and injury that humans routinely face. However, subjecting Thbs1
Identifiants
pubmed: 36689135
doi: 10.1007/s12079-023-00722-5
pii: 10.1007/s12079-023-00722-5
pmc: PMC10409698
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
485-493Subventions
Organisme : Intramural NIH HHS
ID : ZIA SC009172
Pays : United States
Informations de copyright
© 2023. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.
Références
PLoS One. 2015 May 26;10(5):e0128220
pubmed: 26010544
Sci Rep. 2016 Jan 27;6:19684
pubmed: 26813769
PLoS Genet. 2011 Jul;7(7):e1002114
pubmed: 21750680
PLoS One. 2011 May 09;6(5):e19654
pubmed: 21573017
Circ Res. 2006 Oct 27;99(9):961-9
pubmed: 17023674
Matrix Biol. 2005 Aug;24(5):362-70
pubmed: 15979292
Eur J Med Genet. 2014 Mar;57(4):181-4
pubmed: 24583203
Circulation. 2001 Nov 27;104(22):2641-4
pubmed: 11723011
J Endocrinol. 2012 Sep;214(3):241-55
pubmed: 22700194
Matrix Biol. 2016 May-Jul;52-54:60-77
pubmed: 26763578
J Cell Biol. 1995 Aug;130(3):503-6
pubmed: 7542656
Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):24-30
pubmed: 16278880
Science. 2020 May 22;368(6493):897-901
pubmed: 32381591
J Innate Immun. 2019;11(4):303-315
pubmed: 30814475
Diabetes. 2018 Oct;67(10):2069-2083
pubmed: 29976618
Circ Res. 2007 Mar 16;100(5):712-20
pubmed: 17293482
Am J Physiol Cell Physiol. 2020 Jun 1;318(6):C1046-C1054
pubmed: 32130070
J Biol Chem. 2006 Sep 8;281(36):26069-80
pubmed: 16835222
Blood. 2006 Feb 1;107(3):955-64
pubmed: 16204318
Am J Respir Cell Mol Biol. 2011 Apr;44(4):556-61
pubmed: 20581099
Cancer Res. 2008 Sep 1;68(17):7090-9
pubmed: 18757424
Front Endocrinol (Lausanne). 2019 Nov 07;10:727
pubmed: 31787928
Endocrinology. 2010 Jan;151(1):221-33
pubmed: 19934377
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Int J Epidemiol. 1988 Sep;17(3):618-24
pubmed: 3209342
Dev Dyn. 2000 Jun;218(2):235-59
pubmed: 10842355
Mol Cell Biol. 2002 Jun;22(12):4366-71
pubmed: 12024046
Mol Cell Biol. 2005 Jul;25(13):5599-606
pubmed: 15964815
Blood. 2008 Jan 15;111(2):613-23
pubmed: 17890448
Am J Public Health. 1999 Dec;89(12):1883-5
pubmed: 10589325
Development. 2003 Jun;130(12):2779-91
pubmed: 12736220
Front Immunol. 2018 Dec 20;9:2985
pubmed: 30643501
Am J Pathol. 2008 Jun;172(6):1664-74
pubmed: 18467703
Arterioscler Thromb Vasc Biol. 2007 Sep;27(9):1886-94
pubmed: 17569883
Nat Genet. 1999 Sep;23(1):94-8
pubmed: 10471507
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Cardiovasc Pathol. 2010 May-Jun;19(3):e45-9
pubmed: 19631562
Matrix Biol. 2009 Mar;28(2):110-9
pubmed: 19284971
J Biol Chem. 2008 Jul 18;283(29):20069-76
pubmed: 18499674
J Cell Commun Signal. 2021 Mar;15(1):93-105
pubmed: 33415696
Matrix Biol. 2014 Jul;37:1-14
pubmed: 25064829
Mucosal Immunol. 2015 Jul;8(4):896-905
pubmed: 25492474
JCI Insight. 2018 Feb 8;3(3):
pubmed: 29415890
Am J Pathol. 2008 Oct;173(4):1100-12
pubmed: 18787106
Int J Mol Sci. 2021 Apr 27;22(9):
pubmed: 33925464
Biochim Biophys Acta. 2014 Aug;1840(8):2396-402
pubmed: 24440155
Am J Med Genet. 2000 Aug 14;93(4):299-304
pubmed: 10946357
Am J Hum Genet. 2011 Jan 7;88(1):92-8
pubmed: 21194680
Mol Cell Biol. 2005 Jan;25(1):414-21
pubmed: 15601861
Cell Mol Life Sci. 2007 Jan;64(1):66-76
pubmed: 17160353
Arterioscler Thromb Vasc Biol. 2014 Jun;34(6):1187-92
pubmed: 24675658
J Exp Med. 2008 Jul 7;205(7):1583-91
pubmed: 18559454
Am J Hum Genet. 2011 Jan 7;88(1):30-41
pubmed: 21194678
Curr Drug Targets. 2008 Oct;9(10):842-50
pubmed: 18855618
J Cell Commun Signal. 2018 Mar;12(1):273-279
pubmed: 29357009
PLoS One. 2012;7(11):e48775
pubmed: 23144964
Matrix Biol. 2019 Jan;75-76:300-313
pubmed: 29138119
Cell. 2015 Dec 3;163(6):1388-99
pubmed: 26627736
J Cell Commun Signal. 2009 Dec;3(3-4):287-310
pubmed: 19838819
Blood. 2007 Mar 1;109(5):1945-52
pubmed: 17082319
Antioxid Redox Signal. 2017 Oct 20;27(12):874-911
pubmed: 28712304
Science. 1996 Nov 1;274(5288):795-8
pubmed: 8864123
Cell. 1998 Jun 26;93(7):1159-70
pubmed: 9657149
Am J Hum Genet. 2015 Jun 4;96(6):979-85
pubmed: 26027498
Am J Pathol. 2002 Sep;161(3):831-9
pubmed: 12213711
J Reprod Dev. 2011 Feb;57(1):76-83
pubmed: 21422735
Matrix Biol. 2012 Apr;31(3):162-9
pubmed: 22266027
Cell. 1992 Oct 30;71(3):411-21
pubmed: 1423604
Mol Cell Biol. 2002 Dec;22(24):8709-20
pubmed: 12446788
Crit Rev Biochem Mol Biol. 2015;50(3):212-30
pubmed: 25708195
J Cell Commun Signal. 2009 Dec;3(3-4):239-46
pubmed: 19798598
NPJ Genom Med. 2019 Apr 15;4:8
pubmed: 30993004
Matrix Biol. 2018 Oct;71-72:161-173
pubmed: 29530484
J Clin Invest. 1998 Mar 1;101(5):982-92
pubmed: 9486968
Int J Mol Sci. 2020 Jul 12;21(14):
pubmed: 32664627
Nature. 2022 Feb;602(7895):38-39
pubmed: 35022583
J Histochem Cytochem. 2019 Sep;67(9):683-699
pubmed: 31116066
Proc Natl Acad Sci U S A. 2020 Sep 22;117(38):23717-23720
pubmed: 32900953
Nat Commun. 2022 Feb 24;13(1):1029
pubmed: 35210420