A mouse model for osseous heteroplasia.
GNAS/Gnas encodes G(s)α that is mainly biallelically expressed but shows imprinted expression in some tissues. In Albright Hereditary Osteodystrophy (AHO) heterozygous loss of function mutations of GNAS can result in ectopic ossification that tends to be superficial and attributable to haploinsuffic...
Guardado en:
| Autores principales: | , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Public Library of Science (PLoS)
2012
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/dc2ecbd0286045498e7263d15a26be82 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:dc2ecbd0286045498e7263d15a26be82 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:dc2ecbd0286045498e7263d15a26be822021-11-18T08:04:31ZA mouse model for osseous heteroplasia.1932-620310.1371/journal.pone.0051835https://doaj.org/article/dc2ecbd0286045498e7263d15a26be822012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23284784/?tool=EBIhttps://doaj.org/toc/1932-6203GNAS/Gnas encodes G(s)α that is mainly biallelically expressed but shows imprinted expression in some tissues. In Albright Hereditary Osteodystrophy (AHO) heterozygous loss of function mutations of GNAS can result in ectopic ossification that tends to be superficial and attributable to haploinsufficiency of biallelically expressed G(s)α. Oed-Sml is a point missense mutation in exon 6 of the orthologous mouse locus Gnas. We report here both the late onset ossification and occurrence of benign cutaneous fibroepithelial polyps in Oed-Sml. These phenotypes are seen on both maternal and paternal inheritance of the mutant allele and are therefore due to an effect on biallelically expressed G(s)α. The ossification is confined to subcutaneous tissues and so resembles the ossification observed with AHO. Our mouse model is the first with both subcutaneous ossification and fibroepithelial polyps related to G(s)α deficiency. It is also the first mouse model described with a clinically relevant phenotype associated with a point mutation in G(s)α and may be useful in investigations of the mechanisms of heterotopic bone formation. Together with earlier results, our findings indicate that G(s)α signalling pathways play a vital role in repressing ectopic bone formation.Michael T CheesemanKate VowellTertius A HoughLynn JonesParas PathakHayley E TyrerMichelle KellyRoger CoxMadhuri V WarrenJo PetersPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 12, p e51835 (2012) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Michael T Cheeseman Kate Vowell Tertius A Hough Lynn Jones Paras Pathak Hayley E Tyrer Michelle Kelly Roger Cox Madhuri V Warren Jo Peters A mouse model for osseous heteroplasia. |
| description |
GNAS/Gnas encodes G(s)α that is mainly biallelically expressed but shows imprinted expression in some tissues. In Albright Hereditary Osteodystrophy (AHO) heterozygous loss of function mutations of GNAS can result in ectopic ossification that tends to be superficial and attributable to haploinsufficiency of biallelically expressed G(s)α. Oed-Sml is a point missense mutation in exon 6 of the orthologous mouse locus Gnas. We report here both the late onset ossification and occurrence of benign cutaneous fibroepithelial polyps in Oed-Sml. These phenotypes are seen on both maternal and paternal inheritance of the mutant allele and are therefore due to an effect on biallelically expressed G(s)α. The ossification is confined to subcutaneous tissues and so resembles the ossification observed with AHO. Our mouse model is the first with both subcutaneous ossification and fibroepithelial polyps related to G(s)α deficiency. It is also the first mouse model described with a clinically relevant phenotype associated with a point mutation in G(s)α and may be useful in investigations of the mechanisms of heterotopic bone formation. Together with earlier results, our findings indicate that G(s)α signalling pathways play a vital role in repressing ectopic bone formation. |
| format |
article |
| author |
Michael T Cheeseman Kate Vowell Tertius A Hough Lynn Jones Paras Pathak Hayley E Tyrer Michelle Kelly Roger Cox Madhuri V Warren Jo Peters |
| author_facet |
Michael T Cheeseman Kate Vowell Tertius A Hough Lynn Jones Paras Pathak Hayley E Tyrer Michelle Kelly Roger Cox Madhuri V Warren Jo Peters |
| author_sort |
Michael T Cheeseman |
| title |
A mouse model for osseous heteroplasia. |
| title_short |
A mouse model for osseous heteroplasia. |
| title_full |
A mouse model for osseous heteroplasia. |
| title_fullStr |
A mouse model for osseous heteroplasia. |
| title_full_unstemmed |
A mouse model for osseous heteroplasia. |
| title_sort |
mouse model for osseous heteroplasia. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2012 |
| url |
https://doaj.org/article/dc2ecbd0286045498e7263d15a26be82 |
| work_keys_str_mv |
AT michaeltcheeseman amousemodelforosseousheteroplasia AT katevowell amousemodelforosseousheteroplasia AT tertiusahough amousemodelforosseousheteroplasia AT lynnjones amousemodelforosseousheteroplasia AT paraspathak amousemodelforosseousheteroplasia AT hayleyetyrer amousemodelforosseousheteroplasia AT michellekelly amousemodelforosseousheteroplasia AT rogercox amousemodelforosseousheteroplasia AT madhurivwarren amousemodelforosseousheteroplasia AT jopeters amousemodelforosseousheteroplasia AT michaeltcheeseman mousemodelforosseousheteroplasia AT katevowell mousemodelforosseousheteroplasia AT tertiusahough mousemodelforosseousheteroplasia AT lynnjones mousemodelforosseousheteroplasia AT paraspathak mousemodelforosseousheteroplasia AT hayleyetyrer mousemodelforosseousheteroplasia AT michellekelly mousemodelforosseousheteroplasia AT rogercox mousemodelforosseousheteroplasia AT madhurivwarren mousemodelforosseousheteroplasia AT jopeters mousemodelforosseousheteroplasia |
| _version_ |
1718422261092843520 |