SOXopathies: Growing Family of Developmental Disorders Due to SOX Mutations.
SOX
SRY
developmental disorder
genetic variant
human disease
mutation
Journal
Trends in genetics : TIG
ISSN: 0168-9525
Titre abrégé: Trends Genet
Pays: England
ID NLM: 8507085
Informations de publication
Date de publication:
09 2019
09 2019
Historique:
received:
16
05
2019
revised:
12
06
2019
accepted:
17
06
2019
pubmed:
11
7
2019
medline:
27
6
2020
entrez:
11
7
2019
Statut:
ppublish
Résumé
The SRY-related (SOX) transcription factor family pivotally contributes to determining cell fate and identity in many lineages. Since the original discovery that SRY deletions cause sex reversal, mutations in half of the 20 human SOX genes have been associated with rare congenital disorders, henceforward called SOXopathies. Mutations are generally de novo, heterozygous, and inactivating, revealing gene haploinsufficiency, but other types, including duplications, have been reported too. Missense variants primarily target the HMG domain, the SOX hallmark that mediates DNA binding and bending, nuclear trafficking, and protein-protein interactions. We here review key clinical and molecular features of SOXopathies and discuss the prospect that the disease family likely involves more SOX genes and larger clinical and genetic spectrums than currently appreciated.
Identifiants
pubmed: 31288943
pii: S0168-9525(19)30122-2
doi: 10.1016/j.tig.2019.06.003
pmc: PMC6956857
mid: NIHMS1532621
pii:
doi:
Substances chimiques
SOX Transcription Factors
0
SOXD Transcription Factors
0
SRY protein, human
0
Sex-Determining Region Y Protein
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
658-671Subventions
Organisme : NIAMS NIH HHS
ID : R01 AR068308
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR072649
Pays : United States
Informations de copyright
Copyright © 2019 Elsevier Ltd. All rights reserved.
Références
Genes Dev. 2002 Nov 1;16(21):2813-28
pubmed: 12414734
Cell Mol Life Sci. 2014 Aug;71(15):2931-45
pubmed: 24310815
Nucleic Acids Res. 2015 Sep 30;43(17):8183-203
pubmed: 26150426
J Bone Miner Res. 2011 Aug;26(8):1793-801
pubmed: 21452281
Mol Cell Biol. 2001 Oct;21(20):6951-9
pubmed: 11564878
Nucleic Acids Res. 2015 Jun 23;43(11):5394-408
pubmed: 25940622
PLoS Genet. 2011 Apr;7(4):e1001372
pubmed: 21533022
Dev Biol. 2014 Mar 1;387(1):109-20
pubmed: 24418654
Nature. 1991 May 9;351(6322):117-21
pubmed: 2030730
Genes Dev. 2006 May 1;20(9):1187-202
pubmed: 16651659
Dev Cell. 2001 Aug;1(2):277-90
pubmed: 11702786
Mol Cell Biol. 2004 Oct;24(19):8428-36
pubmed: 15367664
J Neurochem. 2016 Jan;136(2):316-28
pubmed: 26525805
Ann Hum Genet. 2012 May;76(3):261-7
pubmed: 22348788
Genomics. 2000 Jan 1;63(1):108-16
pubmed: 10662550
J Autoimmun. 2002 Dec;19(4):251-7
pubmed: 12473246
J Med Genet. 2002 Aug;39(8):597-602
pubmed: 12161603
Hum Mutat. 2010 Dec;31(12):1352-9
pubmed: 20960469
Nat Genet. 1998 Jan;18(1):60-4
pubmed: 9425902
Int J Biochem Cell Biol. 2017 Jun;87:18-22
pubmed: 28323209
Nat Neurosci. 2009 Oct;12(10):1238-47
pubmed: 19657336
Nat Commun. 2010 Apr 12;1:9
pubmed: 20596238
J Clin Invest. 2006 Sep;116(9):2442-55
pubmed: 16932809
Hum Mol Genet. 2017 Apr 15;26(8):1472-1482
pubmed: 28186563
Endocr Rev. 2003 Aug;24(4):466-87
pubmed: 12920151
Am J Hum Genet. 2019 Feb 7;104(2):246-259
pubmed: 30661772
Am J Hum Genet. 2002 Dec;71(6):1450-5
pubmed: 12428212
Development. 2013 Oct;140(20):4129-44
pubmed: 24086078
Nat Genet. 1999 May;22(1):85-9
pubmed: 10319868
Hum Genet. 1992 Feb;88(4):411-6
pubmed: 1740318
Cell Stem Cell. 2008 Aug 7;3(2):182-95
pubmed: 18682240
J Med Genet. 2006 Jun;43(6):534-40
pubmed: 16258006
Genes Dev. 1998 Mar 15;12(6):776-81
pubmed: 9512512
Hum Mutat. 2012 Apr;33(4):728-40
pubmed: 22290657
Dev Cell. 2018 Sep 24;46(6):794-806.e6
pubmed: 30146478
Nature. 2016 Oct 13;538(7624):265-269
pubmed: 27706140
Nature. 1990 Nov 29;348(6300):448-50
pubmed: 2247149
Genes Dev. 2002 Jan 15;16(2):165-70
pubmed: 11799060
Mol Cell Endocrinol. 2017 Jan 5;439:213-223
pubmed: 27616671
Nat Genet. 2004 Apr;36(4):361-9
pubmed: 15004559
Hum Genet. 2019 Sep;138(8-9):831-846
pubmed: 30374660
Cell Rep. 2015 Jul 14;12(2):229-43
pubmed: 26146088
Am J Hum Genet. 2013 May 2;92(5):707-24
pubmed: 23643381
Am J Med Genet A. 2015 Nov;167A(11):2548-54
pubmed: 26111154
Glia. 2018 Feb;66(2):279-294
pubmed: 29023979
Dev Cell. 2002 Aug;3(2):167-70
pubmed: 12194848
J Med Genet. 2016 Mar;53(3):152-62
pubmed: 26543203
Nat Commun. 2018 Dec 14;9(1):5319
pubmed: 30552336
Genes Dev. 2001 Jan 1;15(1):66-78
pubmed: 11156606
J Mol Biol. 2001 Sep 21;312(3):481-99
pubmed: 11563911
Nat Genet. 2000 Apr;24(4):434-7
pubmed: 10742113
Dev Biol. 2009 Mar 15;327(2):301-12
pubmed: 19124014
Blood. 2013 Jan 17;121(3):447-58
pubmed: 23169777
Int J Biochem Cell Biol. 2010 Mar;42(3):441-4
pubmed: 19931641
Dev Dyn. 2007 Aug;236(8):2062-76
pubmed: 17584907
Hum Mol Genet. 2012 Sep 15;21(18):4115-25
pubmed: 22723016
Curr Osteoporos Rep. 2016 Feb;14(1):32-8
pubmed: 26830765
Nature. 1996 Apr 25;380(6576):711-4
pubmed: 8614465
Diabetes. 2000 Apr;49(4):555-61
pubmed: 10871192
Mol Cell Biol. 2008 Aug;28(15):4675-87
pubmed: 18505825
Endocr Rev. 2018 Oct 1;39(5):676-700
pubmed: 29924299
FASEB J. 2019 Jan;33(1):619-630
pubmed: 30016600
Genome Med. 2018 Jul 20;10(1):56
pubmed: 30029678
Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9292-7
pubmed: 19470461
PLoS One. 2014 May 08;9(5):e97203
pubmed: 24810894
Brain. 2013 Jun;136(Pt 6):1778-82
pubmed: 23739915
Cell. 1994 Dec 16;79(6):1111-20
pubmed: 8001137
Cell Tissue Res. 2018 Jan;371(1):91-103
pubmed: 29079881
Semin Cell Dev Biol. 2017 Mar;63:13-22
pubmed: 27481580
Nat Commun. 2014 Jun 02;5:4011
pubmed: 24886874
Lancet Respir Med. 2019 Mar;7(3):227-238
pubmed: 30527956
Nat Commun. 2018 Apr 12;9(1):1416
pubmed: 29650961
Mol Cell Biol. 2003 Nov;23(22):8084-91
pubmed: 14585968
Gene. 2018 Apr 20;651:143-151
pubmed: 29378242
Semin Reprod Med. 2012 Oct;30(5):351-63
pubmed: 23044871
J Exp Med. 2018 Oct 1;215(10):2509-2519
pubmed: 30190287
Proc Natl Acad Sci U S A. 2008 Oct 14;105(41):16021-6
pubmed: 18840685
Semin Cancer Biol. 2020 Dec;67(Pt 1):122-153
pubmed: 30914279
Mol Neurobiol. 2016 Apr;53(3):1679-1698
pubmed: 25691455
Connect Tissue Res. 2017 Jan;58(1):2-14
pubmed: 27128146
J Clin Invest. 2011 Jan;121(1):328-41
pubmed: 21183788
Cell Stem Cell. 2013 Jan 3;12(1):15-30
pubmed: 23290134
Semin Cell Dev Biol. 2017 Mar;63:35-42
pubmed: 27552919
Int J Dev Biol. 2011;55(1):45-58
pubmed: 21305474
Hum Mol Genet. 2018 Apr 1;27(7):1228-1240
pubmed: 29373757
Science. 2007 Jan 12;315(5809):230-3
pubmed: 17218525
Neuron. 2008 Jan 24;57(2):232-47
pubmed: 18215621
Curr Rheumatol Rep. 2014 Jan;16(1):394
pubmed: 24338780
Hum Mutat. 1997;9(5):388-95
pubmed: 9143916
Development. 2004 May;131(9):1891-901
pubmed: 15056615
J Biol Chem. 2001 Sep 21;276(38):35390-5
pubmed: 11423552
Trends Cell Biol. 2007 Feb;17(2):72-9
pubmed: 17169561
World J Stem Cells. 2014 Jul 26;6(3):305-11
pubmed: 25126380
Mol Cell Biol. 2004 Aug;24(15):6635-44
pubmed: 15254231
Nucleic Acids Res. 2008 Oct;36(17):5427-40
pubmed: 18703590
Semin Cell Dev Biol. 2017 Mar;63:2-12
pubmed: 27521520
Int J Biochem Cell Biol. 2010 Mar;42(3):445-8
pubmed: 19733255
Biol Reprod. 2006 Jan;74(1):195-201
pubmed: 16207837
Nature. 1994 Dec 8;372(6506):525-30
pubmed: 7990924
Semin Cell Dev Biol. 2017 Mar;63:50-57
pubmed: 27470491
Neuroscience. 2003;119(2):421-32
pubmed: 12770556
Blood. 2006 Aug 15;108(4):1198-207
pubmed: 16627753
Nat Genet. 1998 Feb;18(2):171-3
pubmed: 9462749
Genes Dev. 2011 Dec 1;25(23):2453-64
pubmed: 22085726
Curr Top Dev Biol. 2019;134:223-252
pubmed: 30999977
Connect Tissue Res. 2011;52(6):496-502
pubmed: 21728837
Pituitary. 2007;10(4):393-407
pubmed: 17587179
Semin Reprod Med. 2001 Jun;19(2):133-9
pubmed: 11480910
Am J Hum Genet. 2003 Jun;72(6):1470-8
pubmed: 12740761
Clin Genet. 2015 Apr;87(4):378-82
pubmed: 24697860
Science. 2018 Jun 29;360(6396):1469-1473
pubmed: 29903884
Development. 1990 Jul;109(3):635-46
pubmed: 2401216