Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility

The most severe form of male infertility is idiopathic non-obstructive azoospermia (NOA), a complete sperm absence in the ejaculate. We performed exome sequencing in the Croatian infertile brothers with NOA and found a variant in DMRT1 (Doublesex and mab-3 related transcription factor 1) gene that w...

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Vydáno v:	Human molecular genetics Ročník 34; číslo 6; s. 481
Hlavní autoři:	Marić, Tihana, Castillo-Madeen, Helen, Klarić, Monika Logara, Barišić, Antun, Trgovec-Greif, Lovro, Murphy, Mark W, Juchnewitsch, Anna-Grete, Lillepea, Kristiina, Dutta, Avirup, Žunić, Lucija, Stendahl, Alexandra M, Punab, Margus, Pomm, Kristjan, Mendoza, Daniel M, Lopes, Alexandra M, Šorgić, Ana Merkler, Vugrek, Oliver, Gonçalves, Joao, Almstrup, Kristian, Aston, Kenneth I, Belužić, Robert, Ježek, Davor, Bertoša, Branimir, Laan, Maris, Bojanac, Ana Katušić, Conrad, Donald F, Barbalić, Maja
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	England 07.03.2025
Témata:	Adult Azoospermia - genetics Azoospermia - pathology DNA - genetics DNA - metabolism Exome Sequencing Female Genetic Predisposition to Disease Heterozygote Humans Infertility, Male - genetics Infertility, Male - metabolism Male Molecular Dynamics Simulation Mutation Primary Ovarian Insufficiency - genetics Protein Binding Protein Domains Transcription Factors - chemistry Transcription Factors - genetics Transcription Factors - metabolism exome sequencing genetics DMRT1 infertility
ISSN:	1460-2083, 1460-2083
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