酿酒酵母中的特雷彻·柯林斯综合征突变会破坏RNA聚合酶I和III复合物的完整性。
Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity.
作者信息
Walker-Kopp Nancy, Jackobel Ashleigh J, Pannafino Gianno N, Morocho Paola A, Xu Xia, Knutson Bruce A
机构信息
Department of Biochemistry and Molecular Biology, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
Department of Clinical Laboratory Science, Medical Scholars Master in Medical Technology Program, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
出版信息
Hum Mol Genet. 2017 Nov 1;26(21):4290-4300. doi: 10.1093/hmg/ddx317.
Abstract
Treacher Collins syndrome (TCS) is a craniofacial disorder that is characterized by the malformation of the facial bones. Mutations in three genes (TCOF1, POLR1C and POLR1D) involved in RNA polymerase I (Pol I) transcription account for more than 90% of disease cases. Two of these TCS-associated genes, POLR1C and POLR1D, encode for essential Pol I/III subunits that form a heterodimer necessary for Pol I/III assembly, and many TCS mutations lie along their evolutionarily conserved dimerization interface. Here we elucidate the molecular basis of TCS mutations in Saccharomyces cerevisiae, and present a new model for how TCS mutations may disrupt Pol I and III complex integrity.
摘要
特雷彻·柯林斯综合征（TCS）是一种颅面疾病，其特征是面部骨骼畸形。参与RNA聚合酶I（Pol I）转录的三个基因（TCOF1、POLR1C和POLR1D）中的突变占该疾病病例的90%以上。其中两个与TCS相关的基因POLR1C和POLR1D编码形成Pol I/III组装所必需的异二聚体的重要Pol I/III亚基，许多TCS突变位于它们进化保守的二聚化界面上。在这里，我们阐明了酿酒酵母中TCS突变的分子基础，并提出了一个关于TCS突变如何破坏Pol I和III复合体完整性的新模型。
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本文引用的文献
1
4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System.
Neuropediatrics. 2017 Jun;48(3):152-160. doi: 10.1055/s-0037-1599141. Epub 2017 Mar 1.
2
Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.
Wiley Interdiscip Rev Dev Biol. 2017 May;6(3). doi: 10.1002/wdev.263. Epub 2017 Feb 10.
3
Childhood leukodystrophies: A literature review of updates on new definitions, classification, diagnostic approach and management.
Brain Dev. 2017 May;39(5):369-385. doi: 10.1016/j.braindev.2017.01.001. Epub 2017 Jan 20.
4
Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.
Eur J Hum Genet. 2017 Feb;25(3):315-323. doi: 10.1038/ejhg.2016.183. Epub 2017 Jan 4.
5
Linking maternal and somatic 5S rRNA types with different sequence-specific non-LTR retrotransposons.
RNA. 2017 Apr;23(4):446-456. doi: 10.1261/rna.059642.116. Epub 2016 Dec 21.
6
Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
Am J Med Genet A. 2016 Dec;170(12):3343-3346. doi: 10.1002/ajmg.a.37960. Epub 2016 Sep 9.
7
The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.
PLoS Genet. 2016 Jul 22;12(7):e1006187. doi: 10.1371/journal.pgen.1006187. eCollection 2016 Jul.
8
Molecular structures of unbound and transcribing RNA polymerase III.
Nature. 2015 Dec 10;528(7581):231-6. doi: 10.1038/nature16143. Epub 2015 Nov 25.
9
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623.
10
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
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