Projects per year
Abstract
The skin is a highly regenerative organ which plays critical roles in protecting the body and sensing its environment. Consequently, morbidity and mortality associated with skin defects represent a significant health issue. To identify genes important in skin development and homeostasis, we have applied a high throughput, multi-parameter phenotype screen to the conditional targeted mutant mice generated by the Wellcome Trust Sanger Institute s Mouse Genetics Project (Sanger-MGP). A total of 562 different mouse lines were subjected to a variety of tests assessing cutaneous expression, macroscopic clinical disease, histological change, hair follicle cycling, and aberrant marker expression. Cutaneous lesions were associated with mutations in 23 different genes. Many of these were not previously associated with skin disease in the organ (Mysm1, Vangl1, Trpc4ap, Nom1, Sparc, Farp2, and Prkab1), while others were ascribed new cutaneous functions on the basis of the screening approach (Krt76, Lrig1, Myo5a, Nsun2, and Nf1). The integration of these skin specific screening protocols into the Sanger-MGP primary phenotyping pipelines marks the largest reported reverse genetic screen undertaken in any organ and defines approaches to maximise the productivity of future projects of this nature, while flagging genes for further characterisation.
Original language | English |
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Pages (from-to) | 1 - 12 |
Number of pages | 12 |
Journal | PLoS Genetics |
Volume | 10 |
Issue number | 10 |
DOIs | |
Publication status | Published - 2014 |
Projects
- 3 Finished
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Using mouse genetics to understand skin development and cell biology
Australian Research Council (ARC), Monash University
31/05/11 → 31/05/15
Project: Research
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A knockout approach to identifying genes involved in epidermal development and homeostasis
Smyth, I., Bradley, A., Headon, D., Jackson, I., Martin, P., Ramirez-Solis, R. & Watt, F.
Australian Research Council (ARC)
4/01/10 → 31/12/12
Project: Research
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The role of the FREM genes in development and disease
National Health and Medical Research Council (NHMRC) (Australia)
1/10/06 → 30/09/11
Project: Research