Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia

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• 作者：Yang Wan ; Qian Zhang ; Zhaojun Zhang ; Binfeng Song ; Xiaomin Wang…
• 关键词：DBA ; RPL5 ; RNA ; seq ; ncRNA ; seq ; Zebrafish
• 刊名：BMC Medical Genomics
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：9
• 期：1
• 全文大小：1,905 KB
• 刊物主题：Human Genetics; Microarrays;
• 出版者：BioMed Central
• ISSN：1755-8794

文摘

Background Diamond–Blackfan anemia (DBA) was the first ribosomopathy associated with mutations in ribosome protein (RP) genes. The clinical phenotypes of DBA include failure of erythropoiesis, congenital anomalies and cancer predisposition. Mutations in RPL5 are reported in approximately 9 ~ 21 % of DBA patients, which represents the most common pathological condition related to a large-subunit ribosomal protein. However, it remains unclear how RPL5 downregulation results in severe phenotypes of this disease.