Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genotype-specific differences in infertile men due to loss-of-function variants in M1AP or ZZS genes.

EMBO molecular medicine - 1 Jun 2025

Rotte Nadja, Dunleavy Jessica E M, Runkel Michelle D, Bosse Lina, Fietz Daniela, Pilatz Adrian, Kuss Johanna, Dicke Ann-Kristin, Winge Sofia B, Di Persio Sara, Ruckert Christian, Nordhoff Verena, Schuppe Hans-Christian, Almstrup Kristian, Kliesch Sabine, Neuhaus Nina, Stallmeyer Birgit, O'Bryan Moira K, Tüttelmann Frank, Friedrich Corinna

Abstract excerpt

Male infertility has been linked to M1AP. In mice, M1AP interacts with the ZZS proteins SHOC1/TEX11/SPO16, promoting DNA class I crossover formation during meiosis. To determine whether M1AP and ZZS proteins are involved in human male infertility by recombination failure, we screened for biallelic/hemizygous loss-of-function (LoF) variants in the human genes to select men with presumed protein deficiency...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to CRISPR and Genetic Engineering
Share to DNA Repair Mechanisms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Infertility, Male

Share to Loss of Function Mutation

Share to Meiosis

Share to Prenatal Screening and Diagnostics

Source

Open in PubMed Open full text

Identifiers

PMID: 40374915
DOI: 10.1038/s44321-025-00244-0
PMCID: PMC12162868

Genes

M1AP
SHOC1
TEX11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-specific differences in infertile men due to loss-of-function variants in M1AP or ZZS genes.PMID 40374915Read ↗

Genotype-specific differences in infertile men due to loss-of-function variants in<i>M1AP</i>or<i>ZZS</i>genesSemantic proximity Read ↗

The XPF-like domain in SHOC1 required for homologous recombination and safeguarding autosome from meiotic silencing of unsynapsed chromatinSemantic proximity Read ↗

A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination.Semantic proximity Read ↗

A segregating human allele of <i>SPO11</i> modeled in mice disrupts timing and amounts of meiotic recombination, causing oligospermia and a decreased ovarian reserveSemantic proximity Read ↗

Common variation in meiosis genes shapes human recombination phenotypes and aneuploidy riskSemantic proximity Read ↗

<i>Fancm</i> regulates meiotic double-strand break repair pathway choice in mammalsSemantic proximity Read ↗

A-MYB (MYBL1) transcription factor is a master regulator of male meiosis.Semantic proximity Read ↗

Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertility.Semantic proximity Read ↗

Common variation in meiosis genes shapes human recombination and aneuploidy.Semantic proximity Read ↗

Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertilitySemantic proximity Read ↗

Meiosis interrupted: the genetics of female infertility via meiotic failureSemantic proximity Read ↗

C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.