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体内突变前体 mRNA 加工因子 8（Prpf8）会影响转录剪接、细胞存活和髓样分化。

In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation.

机构信息

Australian Regenerative Medicine Institute, Monash University, Clayton, Victoria 3800, Australia.

出版信息

FEBS Lett. 2013 Jul 11;587(14):2150-7. doi: 10.1016/j.febslet.2013.05.030. Epub 2013 May 25.

DOI:10.1016/j.febslet.2013.05.030
PMID:23714367
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3820954/
Abstract

Mutated spliceosome components are recurrently being associated with perturbed tissue development and disease pathogenesis. Cephalophŏnus (cph), is a zebrafish mutant carrying an early premature STOP codon in the spliceosome component Prpf8 (pre-mRNA processing factor 8). Cph initially develops normally, but then develops widespread cell death, especially in neurons, and is embryonic lethal. Cph mutants accumulate aberrantly spliced transcripts retaining both U2- and U12-type introns. Within early haematopoiesis, myeloid differentiation is impaired, suggesting Prpf8 is required for haematopoietic development. Cph provides an animal model for zygotic PRPF8 dysfunction diseases and for evaluating therapeutic interventions.

摘要

突变的剪接体成分经常与组织发育紊乱和疾病发病机制相关联。 Cephalophŏnus (cph) 是一种携带剪接体成分 Prpf8 (pre-mRNA processing factor 8) 早期过早终止密码子的斑马鱼突变体。cph 最初发育正常，但随后会发生广泛的细胞死亡，特别是在神经元中，并具有胚胎致死性。cph 突变体积累保留 U2 和 U12 型内含子的异常剪接转录本。在早期造血中，髓样分化受损，表明 Prpf8 是造血发育所必需的。cph 为合子 PRPF8 功能障碍疾病和评估治疗干预提供了动物模型。

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本文引用的文献

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Structural basis for dual roles of Aar2p in U5 snRNP assembly.Aar2p 在 U5 snRNP 组装中的双重作用的结构基础。
Genes Dev. 2013 Mar 1;27(5):525-40. doi: 10.1101/gad.213207.113. Epub 2013 Feb 26.
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Crystal structure of Prp8 reveals active site cavity of the spliceosome.Prp8 晶体结构揭示剪接体的活性位点腔。
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The Prp8 RNase H-like domain inhibits Brr2-mediated U4/U6 snRNA unwinding by blocking Brr2 loading onto the U4 snRNA.Prp8 的 RNase H 样结构域通过阻止 Brr2 加载到 U4 snRNA 上，抑制 Brr2 介导的 U4/U6 snRNA 解旋。
Genes Dev. 2012 Nov 1;26(21):2422-34. doi: 10.1101/gad.200949.112.
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Cell. 2012 Oct 12;151(2):440-54. doi: 10.1016/j.cell.2012.09.012.
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RNA degradation in Saccharomyces cerevisae.酵母中 RNA 的降解。
Genetics. 2012 Jul;191(3):671-702. doi: 10.1534/genetics.111.137265.
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Nat Genet. 2011 Dec 27;44(1):9-10. doi: 10.1038/ng.1045.
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The spliceosome as an indicted conspirator in myeloid malignancies.剪接体作为髓系恶性肿瘤的罪魁祸首。
Cancer Cell. 2011 Oct 18;20(4):420-3. doi: 10.1016/j.ccr.2011.10.004.
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