Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis. Issue 1 (December 2016)

• Record Type: Journal Article
• Authors: Robson, Andrew; Owens, Nick; Baserga, Susan; Khokha, Mustafa; Griffin, John
• Is Part Of: BMC developmental biology. Volume 16:Issue 1(2016)
• Page Start: 1
• Page End: 13
• Publication Date: 2016-12
• Subjects: Ribosome -- Development -- Diamond-Blackfan anemia -- North American Childhood Cirrhosis -- TCOF1 -- RPL -- RPS -- UTP -- Ribosome biogenesis -- Ribosomopathy -- Xenopus; Developmental biology -- Periodicals; 571.8
• DOI: 10.1186/s12861-016-0138-5
• Languages: English
• ISSNs: 1471-213X

Abstract

Abstract Background Because ribosomes are ubiquitously required for protein production, it was long assumed that any inherited defect in ribosome manufacture would be embryonically lethal. However, several human congenital diseases have been found to be associated with mutations in ribosome biogenesis factors. Surprisingly, despite the global requirement for ribosomes, these "ribosomopathies" are characterized by distinct and tissue specific phenotypes. The reasons for such tissue proclivity in ribosomopathies remain mysterious but may include differential expression of ribosome biogenesis factors in distinct tissues. Methods Here we usein situ hybridization of labeled antisense mRNA probes and ultra high temporal resolution RNA-Seq data to examine and compare expression of 13 disease associated ribosome biogenesis factors at six key stages inXenopus tropicalis development. Results Rather than being ubiquitously expressed during development, mRNAs of all examined ribosome biogenesis factors were highly enriched in specific tissues, including the cranial neural crest and ventral blood islands. Interestingly, expression of ribosome biogenesis factors demonstrates clear differences in timing, transcript number and tissue localization. Conclusion Ribosome biogenesis factor expression is more spatiotemporally regulated during embryonic development than previously expected and correlates closely with many of the common ribosomopathy phenotypes. Our findings provide information on the dynamic use of ribosome production machinery components during development and advance our understanding of their roles in disease.