TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region
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DOI：
10.1073/pnas.94.7.3110
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发表时间：
1997-04-01
影响因子：
11.1
通讯作者：
Jabs, EW
中科院分区：
文献类型：
--
作者：
Wise, CA;Chiang, LC;Jabs, EW
Treacher柯林斯综合征（TCS）是人类下颌骨面骨发育不全最常见的疾病。最近，部分TCOF 1 cDNA被鉴定，并显示包含突变的TCS家庭，在这里，我们提出了完整的外显子/内含子基因组结构和完整的编码序列的TCOF 1。TCOF 1编码一个1,411个氨基酸的低复杂性蛋白，其预测的蛋白质结构揭示了反映其外显子组织的重复基序。这些基序与其他物种中的核仁运输蛋白共享，并且被预测为被酪蛋白激酶高度磷酸化。与此一致，全长TCOF 1蛋白序列也包含推定的核和核仁定位信号。在整个开放阅读框架中，我们检测到TCS家族中另外的8个突变和几个多态性，我们假设TCS是由于人类颅面发育过程中所需的核仁运输蛋白缺陷所致。
Treacher Collins Syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. Recently, a partial TCOF1 cDNA was identified and shown to contain mutations in TCS families, Here we present the entire exon/intron genomic structure and the complete coding sequence of TCOF1. TCOF1 encodes a low complexity protein of 1,411 amino acids, whose predicted protein structure reveals repeated motifs that mirror the organization of its exons. These motifs are shared with nucleolar trafficking proteins in other species and are predicted to be highly phosphorylated by casein kinase, Consistent with this, the full-length TCOF1 protein sequence also contains putative nuclear and nucleolar localization signals, Throughout the open reading frame, we detected an additional eight mutations in TCS families and several polymorphisms, We postulate that TCS results from defects in a nucleolar trafficking protein that is critically required during human craniofacial development.