2019
DOI: 10.1093/hmg/ddz147
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A mutation inactivating the distal SF1 binding site on the human anti-Müllerian hormone promoter causes persistent Müllerian duct syndrome

Abstract: The persistent Müllerian duct syndrome (PMDS) is a 46,XY disorder of sexual development characterized by the persistence of Müllerian duct derivatives, uterus and tubes, in otherwise normally masculinized males. The condition, transmitted as a recessive autosomal trait, is usually due to mutations in either the anti-Müllerian hormone (AMH) gene or its main receptor. Many variants of these genes have been described, all targeting the coding sequences. We report the first case of PMDS due to a regulatory mutatio… Show more

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Cited by 23 publications
(29 citation statements)
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“…The plasmid of the h AMH promoter with the mutated ERE half-site was generated using the QuikChange II XL Targeted Mutagenesis Kit (Stratagene), as described 15 . Oligonucleotide primers for mutagenesis (Supplementary Table S2 ) were synthesised by Eurogentec (Liège, Belgium).…”
Section: Methodsmentioning
confidence: 99%
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“…The plasmid of the h AMH promoter with the mutated ERE half-site was generated using the QuikChange II XL Targeted Mutagenesis Kit (Stratagene), as described 15 . Oligonucleotide primers for mutagenesis (Supplementary Table S2 ) were synthesised by Eurogentec (Liège, Belgium).…”
Section: Methodsmentioning
confidence: 99%
“…In the fetal Sertoli cell, AMH gene expression is triggered by the nuclear transcription factor SOX9 11 , 12 and subsequently upregulated by transcription factors SF1 11 , 13 15 , GATA4 14 , 16 , 17 and WT1 18 . Thus, high levels of AMH are secreted during the period of sex differentiation independently of pituitary gonadotrophin action on Sertoli cells.…”
Section: Introductionmentioning
confidence: 99%
“…Among these were several transcription factors that act with GATA factors to direct gene expression programs in other developmental systems including the heart, liver, and neural systems (Maitra et al 2009;Nadeau et al 2010;Ang et al 2016;Watanabe et al 2000;Tremblay and Viger 2001;Viger et al 2008;Schteingart et al 2019;Fokko van Loo et al 2007). For example, TBX5 and GATA4 co-bind genes in cardiac cells to activate gene expression (Maitra et al 2009;Nadeau et al 2010;Ang et al 2016).…”
Section: Discussionmentioning
confidence: 99%
“…For example, TBX5 and GATA4 co-bind genes in cardiac cells to activate gene expression (Maitra et al 2009;Nadeau et al 2010;Ang et al 2016). SF1 and GATA4 function cooperatively to activate gene expression pathways in Sertoli cells (Watanabe et al 2000;Tremblay and Viger 2001;Viger et al 2008;Schteingart et al 2019). Although SP3, like GATA4, can function to activate or repress gene expression (Majello et al 1997;Lania et al1997), GATA4 and SP3 can interact to activate Carp1 expression in the heart (Fokko van Loo et al 2007).…”
Section: Discussionmentioning
confidence: 99%
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