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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.
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Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.

机译：多个转录系统DYT3中特定的序列变化与X连锁肌张力障碍帕金森氏症有关。

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摘要

X-linked dystonia parkinsonism (XDP) is an X-linked recessive adult onset movement disorder characterized by both dystonia and parkinsonism. We report delineation of the disease gene within a 300-kb interval of Xq13.1 by allelic association. Sequencing of this region in a patient revealed five disease-specific single-nucleotide changes (here referred to as DSC) and a 48-bp deletion unique to XDP. One of the DSCs is located within an exon of a not previously described multiple transcript system that is composed of at least 16 exons. There is a minimum of three different transcription start sites that encode four different transcripts. Two of these transcripts include distal portions of the TAF1 gene (TATA-box binding protein-associated factor 1) and are alternatively spliced. Three exons overlap with ING2 (a putative tumor suppressor) and with a homologue of CIS4 (cytokine-inducible SH2 protein 4), both of which are encoded by the opposite strand. Although all DSCs are located within this multiple transcript system, only DSC3 lies within an exon. This exon is used by all alternative transcripts making a pathogenic role of DSC3 in XDP likely. The multiple transcript system is therefore referred to as DYT3 (disease locus in XDP).
机译：X连锁性肌张力障碍帕金森病（XDP）是X连锁的隐性成人发作性运动障碍，特征在于肌张力障碍和帕金森病。我们报告了通过等位基因关联在Xq13.1的300 kb间隔内描述疾病基因。在患者中对该区域的测序揭示了五个疾病特异性单核苷酸变化（此处称为DSC）和XDP特有的48 bp缺失。 DSC之一位于未描述的至少由16个外显子组成的多重转录系统的外显子内。至少有三个不同的转录起始位点，它们编码四个不同的转录本。这些转录物中的两个包含TAF1基因的远端部分（TATA-box结合蛋白相关因子1），并且被剪接。三个外显子与ING2（推定的肿瘤抑制物）和CIS4（细胞因子诱导的SH2蛋白4）的同源物重叠，两者均由相反链编码。尽管所有DSC都位于该多重转录系统内，但只有DSC3位于外显子内。该外显子可用于所有其他转录本，从而使DSC3在XDP中可能具有致病作用。因此，多转录本系统称为DYT3（XDP中的疾病基因座）。

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