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Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility

Margot J. Wyrwoll, Sxehime G. Temel, Liina Nagirnaja, Manon S. Oud, Alexandra M. Lopes, Godfried W. van der Heijden, James S. Heald, Nadja Rotte, Joachim Wistuba, Marius Wöste, Susanne Ledig, Henrike Krenz, Roos M. Smits, Filipa Carvalho, Joao Goncalves, Daniela Fietz, Burcu Turkgenc¸ Mahmut C. Ergoren, Murat Cetinkaya, Murad Basar, Semra Kahraman, Kevin McEleny, Miguel J. Xavier, Helen Turner, Adrian Pilatz, Albrecht Röpke, Martin Dugas, Sabine Kliesch, Nina Neuhaus, GEMINI Consortium, Kenneth I. Aston, Donald F. Conrad, Joris A. Veltman, Corinna Friedrich, Frank Tüttelmann, 06.08.2020

WYRWOLL, Margot J., et al. Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to male infertility. The American Journal of Human Genetics, 2020, 107. Jg., Nr. 2, S. 342-351.

Publication: https://doi.org/10.1016/j.ajhg.2020.06.010
Repository: </br>PMID: 32673564</br>Link to preprint: <a href=https://doi.org/10.1101/803346>https://doi.org/10.1101/803346</a>

Disclaimer

The publication Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility by Margot J. Wyrwoll, Sxehime G. Temel, Liina Nagirnaja, Manon S. Oud, Alexandra M. Lopes, Godfried W. van der Heijden, James S. Heald, Nadja Rotte, Joachim Wistuba, Marius Wöste, Susanne Ledig, Henrike Krenz, Roos M. Smits, Filipa Carvalho, Joao Goncalves, Daniela Fietz, Burcu Turkgenc¸ Mahmut C. Ergoren, Murat Cetinkaya, Murad Basar, Semra Kahraman, Kevin McEleny, Miguel J. Xavier, Helen Turner, Adrian Pilatz, Albrecht Röpke, Martin Dugas, Sabine Kliesch, Nina Neuhaus, GEMINI Consortium, Kenneth I. Aston, Donald F. Conrad, Joris A. Veltman, Corinna Friedrich, Frank Tüttelmann is not published under an open access license. Therefore, only content curated by the MFGA team can be shown. For abstract, images and tables please follow the link to the original publication.

Curation by the MFGA team
Relevant data sets presented in the publication have been identified. If possible, annotations (title, general information, conditions, processed tissue types and processed cell types) have been added based on information from the publication.

Data set 1: Variants in M1AP

Exome: Whole Exome Sequencing

Species

Species
Human

Conditions

Human phenotype ontology Participants Comment
HP:0011961: Non-obstructive azoospermia 11 3 from Germany, 1 from Croatia, 1 from Poland, 2 from Portugal, 1 from The Netherlands, 1 from The United Kingdom, 1 from Turkey, 1 from China (Tu et al., 2020)

Data set 2: Testis RNA analysis

Transcriptome: Other

Species

Species
Human

Conditions

Human phenotype ontology Participants Comment
HP:0011961: Non-obstructive azoospermia 1 c.676dup
HP:control 1 WT

Tissue Types

BRENDA tissue ontology Maturity Description Species Replicates
BTO_0001363: testis Adult Human 2

Data set 3: Functional analysis

Proteome: Other

Species

Species
Human

Cell Types

Cell ontology Maturity Description Species Replicates Cells per replicate
Human cell line Human