ArticleExperimental dermatology2012
Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis.
Article in Experimental dermatology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 5 citations in OpenAlex.
- Illuminating the mystery of thylacine extinction: a role for relaxed selection and gene loss.Proceedings. Biological sciences · 2025Article
- A paralogous pair of mammalian host restriction factors form a critical host barrier against poxvirus infection.PLoS pathogens · 2018Article
- Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.The Journal of clinical investigation · 2017Article
- Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.American journal of human genetics · 2016Article
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Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
Abstract
Normophosphataemic familial tumoral calcinosis, charac-terized by ectopic mineralization of skin, is caused by mutations in the SAMD9 gene located in human chromosome 7q21, next to a paralogous gene, SAMD9-like (SAMD9L). The mouse does not have a SAMD9 orthologue, Samd9, because it has been deleted during evolution owing to genomic rearrangements. It has been suggested that the mouse Samd9l gene serves as a functional paralogue of human SAMD9. In this study, we examined Samd9l knockout mice with respect to ectopic mineralization. We also crossed these mice with Abcc6(tm1JfK) mice, a model system to study pseudoxanthoma elasticum, to see whether the absence of the Samd9l gene modifies the mineralization process. Necropsy analysis of Samd9l(tm1Homy) mice revealed no evidence of ectopic mineralization, and deletion of the Samd9l gene in mice failed to modify the mineralization process on the Abcc6(tm1JfK) background. Collectively, the results suggest that mouse Samd9l is not a functional paralogue of human SAMD9.
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