Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome.
Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome.
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人类 DCTN1：作为阿尔斯特罗姆综合征候选者的基因组结构和评估。
DOI：
10.1006/geno.1998.5542
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发表时间：
1998
期刊：
影响因子：
4.4
通讯作者：
Naggert,JK
中科院分区：
文献类型：
--
作者：
Collin,GB;Nishina,PM;Marshall,JD;Naggert,JK
人类dynactin 1基因（DCTN1）位于染色体2p13上，是多种疾病的候选区域，包括Alström综合征、肢带肌营养不良症和三吉肌病。在这里，我们报道了dctn1的外显子-内含子结构，以及Tokitoet al.（1996）先前发现的5 '上游序列和可选剪接变体的特征。医学杂志。Cell7: 1167 - 1180)。对dctn1基因组结构的了解使我们能够设计内含子引物，用于分析与该基因相关的疾病分离的家族突变。这些引物在法国阿卡迪亚人亲属分离Alström综合征上进行了测试。在该家族中，dctn1的编码区未观察到突变。然而，内含子引物应该允许快速扩增编码区，以便对额外的Alström家族和其他与2p13染色体dctn1位点紧密相关的疾病进行突变分析。
The human dynactin 1 gene (DCTN1) is positioned on chromosome 2p13, the candidate region for various diseases including Alström syndrome, limb-girdle muscle dystrophy, and Miyoshi myopathy. Here, we report the exon–intron structure ofDCTN1along with characterization of the 5′ upstream sequence and alternative splice variants previously identified by Tokitoet al.(1996),Mol. Biol. Cell7: 1167–1180). Knowledge of the genomic structure ofDCTN1allowed us to design intronic primers necessary for analyzing mutations in families segregating for diseases linked to this gene. These primers were tested on a French Acadian kindred segregating for Alström syndrome. No mutations were observed within the coding region ofDCTN1in this family. However, the intronic primers should allow for the rapid amplification of the coding region for mutational analysis of additional Alström families and other diseases tightly linked to theDCTN1locus on chromosome 2p13.