Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (
46,XX TDSD/OTDSD
WT1
organogenesis
sex determination
β-CATENIN
Journal
Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876
Informations de publication
Date de publication:
16 06 2020
16 06 2020
Historique:
pubmed:
5
6
2020
medline:
15
9
2020
entrez:
5
6
2020
Statut:
ppublish
Résumé
Sex determination in mammals is governed by antagonistic interactions of two genetic pathways, imbalance in which may lead to disorders/differences of sex development (DSD) in human. Among 46,XX individuals with testicular DSD (TDSD) or ovotesticular DSD (OTDSD), testicular tissue is present in the gonad. Although the testis-determining gene
Identifiants
pubmed: 32493750
pii: 1921676117
doi: 10.1073/pnas.1921676117
pmc: PMC7306989
doi:
Substances chimiques
WT1 Proteins
0
WT1 protein, human
0
WT1 protein, mouse
0
beta Catenin
0
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
13680-13688Subventions
Organisme : Cancer Research UK
ID : FC001107
Pays : United Kingdom
Organisme : Wellcome Trust
ID : FC001107
Pays : United Kingdom
Organisme : NICHD NIH HHS
ID : R21 HD074278
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD070647
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM116889
Pays : United States
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Medical Research Council
ID : U117512772
Pays : United Kingdom
Organisme : Medical Research Council
ID : FC001107
Pays : United Kingdom
Informations de copyright
Copyright © 2020 the Author(s). Published by PNAS.
Déclaration de conflit d'intérêts
The authors declare no competing interest.
Références
Hum Mol Genet. 2016 Dec 1;25(23):5286
pubmed: 28031288
Proc Natl Acad Sci U S A. 1995 Dec 19;92(26):11960-4
pubmed: 8618823
Am J Hum Genet. 1972 Jan;24(1):71-105
pubmed: 4622299
N Engl J Med. 2004 Aug 19;351(8):792-8
pubmed: 15317892
Dev Dyn. 2008 Dec;237(12):3672-80
pubmed: 18985752
Horm Res Paediatr. 2016;85(3):158-80
pubmed: 26820577
Biochemistry. 2000 May 9;39(18):5341-8
pubmed: 10820004
Nat Commun. 2019 Nov 11;10(1):5116
pubmed: 31712577
Cell. 1991 Oct 18;67(2):437-47
pubmed: 1655284
Nat Rev Genet. 2017 Nov;18(11):675-689
pubmed: 28804140
Am J Med Genet A. 2015 Aug;167A(8):1851-8
pubmed: 25900885
Development. 1993 Dec;119(4):1329-41
pubmed: 8306891
Eur J Endocrinol. 2018 Oct 01;179(4):R197-R206
pubmed: 30299888
J Biol Chem. 1999 Aug 13;274(33):23456-62
pubmed: 10438524
Hum Mol Genet. 2008 Oct 1;17(19):2949-55
pubmed: 18617533
Am J Hum Genet. 2018 Mar 1;102(3):487-493
pubmed: 29478779
Biophys Chem. 2009 Dec;145(2-3):116-25
pubmed: 19853363
J Clin Invest. 2011 Jan;121(1):328-41
pubmed: 21183788
Chromosome Res. 2012 Jan;20(1):215-38
pubmed: 22290220
Nat Genet. 2006 Nov;38(11):1304-9
pubmed: 17041600
Clin Genet. 2017 Feb;91(2):143-156
pubmed: 27893151
Development. 2017 Aug 15;144(16):2862-2872
pubmed: 28811308
Am J Hum Genet. 1998 Apr;62(4):824-33
pubmed: 9529364
Nat Commun. 2018 Dec 14;9(1):5319
pubmed: 30552336
Nat Genet. 1997 Dec;17(4):467-70
pubmed: 9398852
Nature. 1999 Feb 4;397(6718):405-9
pubmed: 9989404
Pediatr Nephrol. 2017 Jan;32(1):81-89
pubmed: 27300205
Genes Dev. 1991 Aug;5(8):1345-56
pubmed: 1651275
FASEB J. 2014 May;28(5):2020-8
pubmed: 24451388
Nature. 1991 Oct 3;353(6343):431-4
pubmed: 1654525
Proc Natl Acad Sci U S A. 2000 Oct 24;97(22):11932-5
pubmed: 11050227
Am J Med Genet A. 2004 Jun 1;127A(2):149-51
pubmed: 15108202
Development. 2017 Jan 1;144(1):44-53
pubmed: 27888191
J Pediatr Endocrinol Metab. 2005 Aug;18(8):739-48
pubmed: 16200839
Hum Mol Genet. 2008 May 1;17(9):1264-77
pubmed: 18250098
Am J Med Genet A. 2007 Oct 1;143A(19):2312-20
pubmed: 17853480
Pediatrics. 2006 Aug;118(2):e488-500
pubmed: 16882788
Curr Top Dev Biol. 2019;134:223-252
pubmed: 30999977