ArticleJournal of assisted reproduction and genetics2017
A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.
Article in Journal of assisted reproduction and genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07402759 (Impact of tdrd9 Gene Mutations in the Therapeutic Response to L-carnitine in Oligoasthenozoospermic Men), which is not on this map. Cited by 25 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Impact of tdrd9 Gene Mutations in the Therapeutic Response to L-carnitine in Oligoasthenozoospermic Men
Who cites it
25 citing papers in PubMed, 49 citations in OpenAlex.
- High-quality mouse reference genomes reveal the structural complexity of the murine protein-coding landscape.Cell genomics · 2026Article
- The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.Human reproduction update · 2026Review
- A Novel Compound Heterozygous Mutation in TDRD9 Causes Oligozoospermia.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Evaluation of an Updated Gene Panel as a Diagnostic Tool for Both Male and Female Infertility.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Genetic Implications of Male-Reproductive-Health-Associated Comorbidities.Turkish journal of urology · 2022Article
- Whole Exome Sequencing Identifies Genes Associated With Non-Obstructive Azoospermia.Frontiers in genetics · 2022Article
- Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.Genes · 2021Article
- The X chromosome and male infertility.Human genetics · 2021Review
- Whole-Exome Sequencing Analysis of Human Semen Quality in Russian Multiethnic Population.Frontiers in genetics · 2021Article
- Towards Post-Meiotic Sperm Production: Genetic Insight into Human Infertility from Mouse Models.International journal of biological sciences · 2021Review
- Infertility and associated factors in three hospitals in Douala, Cameroon: a cross-sectional study.African health sciences · 2020Article
- The necdin interactome: evaluating the effects of amino acid substitutions and cell stress using proximity-dependent biotinylation (BioID) and mass spectrometry.Human genetics · 2020Article
- Genetic disorders and male infertility.Reproductive medicine and biology · 2020Review
- Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment.Journal of assisted reproduction and genetics · 2020Article
- Recent advances in mammalian reproductive biology.Science China. Life sciences · 2020Review
- Deletion of Ck2β gene causes germ cell development arrest and azoospermia in male mice.Cell proliferation · 2020Article
- MAGE cancer-testis antigens protect the mammalian germline under environmental stress.Science advances · 2019Article
- Genetic defects in human azoospermia.Basic and clinical andrology · 2019Article
- From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Genetic evaluation of patients with non-syndromic male infertility.Journal of assisted reproduction and genetics · 2018Review
Corrections and comments
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Authors and funding
21 authors at 9 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe purpose of this study was to identify mutations that cause non-syndromic male infertility using whole exome sequencing of family cases.
methodsWe recruited a consanguineous Turkish family comprising nine siblings with male triplets; two of the triplets were infertile as well as one younger infertile brother. Whole exome sequencing (WES) performed on two azoospermic brothers identified a mutation in the melanoma antigen family B4 (MAGEB4) gene which was confirmed via Sanger sequencing and then screened for on control groups and unrelated infertile subjects. The effect of the mutation on messenger RNA (mRNA) and protein levels was tested after in vitro cell transfection. Structural features of MAGEB4 were predicted throughout the conserved MAGE domain.
resultsThe novel single-base substitution (c.1041A>T) in the X-linked MAGEB4 gene was identified as a no-stop mutation. The mutation is predicted to add 24 amino acids to the C-terminus of MAGEB4. Our functional studies were unable to detect any effect either on mRNA stability, intracellular localization of the protein, or the ability to homodimerize/heterodimerize with other MAGE proteins. We thus hypothesize that these additional amino acids may affect the proper protein interactions with MAGEB4 partners.
conclusionThe whole exome analysis of a consanguineous Turkish family revealed MAGEB4 as a possible new X-linked cause of inherited male infertility. This study provides the first clue to the physiological function of a MAGE protein.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.