ArticleDevelopmental dynamics : an official publication of the American Association of Anatomists2016
Syndactyly in a novel Fras1(rdf) mutant results from interruption of signals for interdigital apoptosis.
Article in Developmental dynamics : an official publication of the American Association of Anatomists, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 13 citations in OpenAlex.
- Identification of copy number variations through whole genome resequencing between Jiuyishan and Hyplus rabbits.Frontiers in veterinary science · 2025Article
- "Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndrome.European journal of human genetics : EJHG · 2023Article
- Excluding embryos with two novel mutations inAging · 2021Article
- A Review of the Genetics and Pathogenesis of Syndactyly in Humans and Experimental Animals: A 3-Step Pathway of Pathogenesis.BioMed research international · 2019Review
- The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.Human molecular genetics · 2018Article
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundFras1 encodes an extracellular matrix protein that is critical for the establishment of the epidermal basement membrane during gestation. In humans, mutations in FRAS1 cause Fraser Syndrome (FS), a pleiotropic condition with many clinical presentations such as limb, eye, kidney, and craniofacial deformations. Many of these defects are mimicked by loss of Fras1 in mice, and are preceded by the formation of epidermal blisters in utero.
resultsIn this study, we identified a novel ENU-derived rounded foot (rdf) mouse mutant with highly penetrant hindlimb soft-tissue syndactyly, among other structural defects. Mapping and sequencing revealed that rdf is a novel loss-of-function nonsense allele of Fras1 (Fras1(rdf)). Focusing on the limb, we found that the Fras1(rdf) syndactyly phenotype originates from loss of interdigital cell death (ICD). Despite normal expression of bone morphogenetic protein (BMP) ligands and their receptors, the BMP downstream target gene Msx2, which is also necessary and sufficient to promote ICD, was down-regulated in the interdigital regions of Fras1(rdf) hindlimb buds.
conclusionsThe close correlation between limb bud epidermal blistering, decreased Msx2 expression, and reduced ICD in the Fras1(rdf) hindlimb buds suggests that epithelium detachment from the mesenchyme may create a physical gap that interrupts the transmission of BMP, among other signals, resulting in soft tissue syndactyly.
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