ArticleThe Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association2010
Disruption of the murine Ap2β1 gene causes nonsyndromic cleft palate.
Article in The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
- AP2B1, a protein involved in endocytic trafficking, is associated with congenital heart defects when mutated.Genes & diseases · 2026Article
- Current Animal Models of Cleft Lip and/or Palate: A Narrative Review.Biomedicines · 2026Review
- CCDC32 collaborates with the membrane to assemble the AP-2 clathrin adaptor complex.Science advances · 2026Article
- Article
- New directions for the clathrin adaptor AP-1 in cell biology and human disease.Current opinion in cell biology · 2022Review
- Review
- Spatially resolved cell polarity proteomics of a human epiblast model.Science advances · 2021Article
- Endocytic Adaptor Proteins in Health and Disease: Lessons from Model Organisms and Human Mutations.Cells · 2019Review
- Coatopathies: Genetic Disorders of Protein Coats.Annual review of cell and developmental biology · 2019Review
- Article
- A phosphotyrosine switch for cargo sequestration at clathrin-coated buds.The Journal of biological chemistry · 2014Article
- Article
- Cargo recognition in clathrin-mediated endocytosis.Cold Spring Harbor perspectives in biology · 2013Review
- Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.Neurogenetics · 2012Article
- A single β adaptin contributes to AP1 and AP2 complexes and clathrin function in Dictyostelium.Traffic (Copenhagen, Denmark) · 2012Article
- Conservation and diversification of dileucine signal recognition by adaptor protein (AP) complex variants.The Journal of biological chemistry · 2011Article
- Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph-ephrin boundaries.Genes & development · 2010Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Development of the secondary palate in mammals is a complex process that can be easily perturbed, leading to the common and distressing birth defect cleft palate. Animal models are particularly useful tools for dissecting underlying genetic components of cleft palate. We describe a new cleft palate model resulting from a transgene insertion mutation. Transgene insertional mutagenesis disrupts the genomic organization and expression of the Ap2β1 gene located on chromosome 11. This gene encodes the β2-adaptin subunit of the heterotetrameric adaptor protein 2 complex involved in clathrin-dependent endocytosis. Homozygous cleft palate mutant mice express no Ap2β1 messenger RNA or β2-adaptin protein and die during the perinatal period. Heterozygous mice are phenotypically normal despite expressing diminished β2-adaptin messenger RNA and protein compared with wildtype. Remarkably, the paralogous β1-adaptin subunit of the adaptor protein 1 complex partially substitutes for the missing β2-adaptin in embryonic fibroblasts from homozygous mutant mice, resulting in assembly of reduced levels of an adaptor protein 2 complex bearing β1-adaptin. This variant adaptor protein 2 complex is, therefore, apparently capable of maintaining viability of the homozygous mutant embryos until birth but insufficient to support palatogenesis. Nonsyndromic cleft palate in an animal model is associated with disruption of the Ap2β1 gene.
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Registered trials
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