The Ribosome Biogenesis Factor Nol11 Is Required for Optimal rDNA Transcription and Craniofacial Development in

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All cells require ribosomes, the cellular factories that produce proteins. A host of factors combine to produce the multiple complex units of a ribosome, many of which are still not well understood. Surprisingly, despite the ubiquitous requirement for ribosomes, defects in various ribosome biogenesis factors cause distinct and tissue specific phenotypes, collectively known as ribosomopathies. We examined the role of one ribosome biogenesis factor, Nol11, during embryonic development to determine if it too had a tissue specific phenotype. Here we show that expression of nol11 is strongly associated with the developing head in vertebrates and that insufficient Nol11 results in striking malformations of the craniofacial skeleton. We further show that reduced Nol11 impairs critical early steps in ribosome production, which triggers apoptosis within cell populations that contribute to the head. Increased cell death is at least partially the cause of the Nol11 craniofacial defect; reducing cell death rescues some of the craniofacial phenotype but not the ribosome biogenesis defect. In summary, we demonstrate for the first time that Nol11 is required for normal development of the vertebrate head and provide novel insight into the intriguing tissue proclivity of ribosomopathies.

Vyšlo v časopise: The Ribosome Biogenesis Factor Nol11 Is Required for Optimal rDNA Transcription and Craniofacial Development in. PLoS Genet 11(3): e32767. doi:10.1371/journal.pgen.1005018
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005018

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