Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.
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 app...
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2014-10-01
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| Series: | PLoS Genetics |
| Online Access: | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1004705&type=printable |
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| author | Tia DiTommaso Lynelle K Jones Denny L Cottle WTSI Mouse Genetics Program Anna-Karin Gerdin Valerie E Vancollie Fiona M Watt Ramiro Ramirez-Solis Allan Bradley Karen P Steel John P Sundberg Jacqueline K White Ian M Smyth |
| author_facet | Tia DiTommaso Lynelle K Jones Denny L Cottle WTSI Mouse Genetics Program Anna-Karin Gerdin Valerie E Vancollie Fiona M Watt Ramiro Ramirez-Solis Allan Bradley Karen P Steel John P Sundberg Jacqueline K White Ian M Smyth |
| author_sort | Tia DiTommaso |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-03c745db72054c98b2c15844f603b5cc |
| institution | Kabale University |
| issn | 1553-7390 1553-7404 |
| language | English |
| publishDate | 2014-10-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Genetics |
| spelling | doaj-art-03c745db72054c98b2c15844f603b5cc2025-08-20T03:46:13ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042014-10-011010e100470510.1371/journal.pgen.1004705Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.Tia DiTommasoLynelle K JonesDenny L CottleWTSI Mouse Genetics ProgramAnna-Karin GerdinValerie E VancollieFiona M WattRamiro Ramirez-SolisAllan BradleyKaren P SteelJohn P SundbergJacqueline K WhiteIan M SmythThe 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.https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1004705&type=printable |
| spellingShingle | Tia DiTommaso Lynelle K Jones Denny L Cottle WTSI Mouse Genetics Program Anna-Karin Gerdin Valerie E Vancollie Fiona M Watt Ramiro Ramirez-Solis Allan Bradley Karen P Steel John P Sundberg Jacqueline K White Ian M Smyth Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse. PLoS Genetics |
| title | Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse. |
| title_full | Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse. |
| title_fullStr | Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse. |
| title_full_unstemmed | Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse. |
| title_short | Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse. |
| title_sort | identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse |
| url | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1004705&type=printable |
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