ArticleProceedings of the National Academy of Sciences of the United States of America2004
Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
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66 citing papers in PubMed, 152 citations in OpenAlex.
- A rhesus macaque model of α-dystroglycanopathy caused by a POMT1 splice altering variant.Animal models and experimental medicine · 2026Article
- Cytoplasmic region of beta-dystroglycan is essential for postsynaptic maturation and neuromuscular function in mice.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Glycan-related genes and genetic disorders.Journal of human genetics · 2026Review
- Impact of maternal compensation on developmental phenotypes in a zebrafish model of severe congenital muscular dystrophy.PLoS genetics · 2026Article
- Reclassifying a Novel POMT1 Variant by Integrating Functional Analysis and Bioinformatics: Implications for Preimplantation Genetic Testing.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Sarcolemma resilience and skeletal muscle health require O-mannosylation of dystroglycan.Skeletal muscle · 2025Article
- The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization.Disease models & mechanisms · 2024Article
- Matriglycan maintains t-tubule structural integrity in cardiac muscle.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes.Human molecular genetics · 2024Article
- Transcriptome Analysis of Diffuse Large B-Cell Lymphoma Cells Inducibly Expressing MyD88 L265P Mutation Identifies Upregulated CD44, LGALS3, NFKBIZ, and BATF as Downstream Targets of Oncogenic NF-κB Signaling.International journal of molecular sciences · 2023Article
- Overview of junctional complexes during mammalian early embryonic development.Frontiers in endocrinology · 2023Review
- Developmental and mechanical roles of Reichert's membrane in mouse embryos.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Review
- Dystroglycanopathy: From Elucidation of Molecular and Pathological Mechanisms to Development of Treatment Methods.International journal of molecular sciences · 2021Review
- Alanine-scanning mutagenesis of protein mannosyl-transferase fromMicrobiology (Reading, England) · 2021Article
- Retinal Proteomics of a Mouse Model of Dystroglycanopathies Reveals Molecular Alterations in Photoreceptors.Journal of proteome research · 2021Article
- Structural, Evolutionary, and Functional Analysis of the Protein O-Mannosyltransferase Family in Pathogenic Fungi.Journal of fungi (Basel, Switzerland) · 2021Review
- Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities.Scientific reports · 2021Article
- Extracellular Control of Radial Glia Proliferation and Scaffolding During Cortical Development and Pathology.Frontiers in cell and developmental biology · 2020Review
- Mammalian O-mannosyl glycans: Biochemistry and glycopathology.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2019Article
- The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy.Disease models & mechanisms · 2018Review
6 more citing papers are in PubMed but not listed here.
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13 authors at 1 institution in 1 country.
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Abstract
O-mannosylation is an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of protein O-mannosyltransferases. The first mammalian protein O-mannosyltransferase gene described was the human POMT1. Mutations in the hPOMT1 gene are responsible for Walker-Warburg syndrome (WWS), a severe recessive congenital muscular dystrophy associated with defects in neuronal migration that produce complex brain and eye abnormalities. During embryogenesis, the murine Pomt1 gene is prominently expressed in the neural tube, the developing eye, and the mesenchyme. These sites of expression correlate with those in which the main tissue alterations are observed in WWS patients. We have inactivated a Pomt1 allele by gene targeting in embryonic stem cells and produced chimeras transmitting the defect allele to offspring. Although heterozygous mice were viable and fertile, the total absence of Pomt1(-/-) pups in the progeny of heterozygous intercrosses indicated that this genotype is embryonic lethal. An analysis of the mutant phenotype revealed that homozygous Pomt1(-/-) mice suffer developmental arrest around embryonic day (E) 7.5 and die between E7.5 and E9.5. The Pomt1(-/-) embryos present defects in the formation of Reichert's membrane, the first basement membrane to form in the embryo. The failure of this membrane to form appears to be the result of abnormal glycosylation and maturation of dystroglycan that may impair recruitment of laminin, a structural component required for the formation of Reichert's membrane in rodents. The targeted disruption of mPomt1 represents an example of an engineered deletion of a known glycosyltransferase involved in O-mannosyl glycan synthesis.
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