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首页> 外文期刊>BMC Genomics >The cloning, genomic organization and tissue expression profile of the human DLG5 gene
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The cloning, genomic organization and tissue expression profile of the human DLG5 gene

机译：人DLG5基因的克隆，基因组组织和组织表达谱

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Background Familial atrial fibrillation, an autosomal dominant disease, was previously mapped to chromosome 10q22. One of the genes mapped to the 10q22 region is DLG5, a member of the MAGUKs (Membrane Associated Gyanylate Kinase) family which mediates intracellular signaling. Only a partial cDNA was available for DLG5. To exclude potential disease inducing mutations, it was necessary to obtain a complete cDNA and genomic sequence of the gene. Methods The Northern Blot analysis performed using 3' UTR of this gene indicated the transcript size to be about 7.2 KB. Using race technique and library screening the entire cDNA was cloned. This gene was evaluated by sequencing the coding region and splice functions in normal and affected family members with familial atrial fibrillation. Furthermore, haploid cell lines from affected patients were generated and analyzed for deletions that may have been missed by PCR. Results We identified two distinct alternately spliced transcripts of this gene. The genomic sequence of the DLG5 gene spanned 79 KB with 32 exons and was shown to have ubiquitous human tissue expression including placenta, heart, skeletal muscle, liver and pancreas. Conclusions The entire cDNA of DLG5 was identified, sequenced and its genomic organization determined.
机译：背景家族性心房颤动是一种常染色体显性遗传疾病，以前被定位于10q22号染色体。定位到10q22区域的基因之一是DLG5，DLUK5是介导细胞内信号传导的MAGUKs（膜相关的氰基化激酶）家族的成员。 DLG5仅可使用部分cDNA。为了排除潜在的疾病诱导突变，必须获得该基因的完整cDNA和基因组序列。方法使用该基因的3'UTR进行的Northern Blot分析表明，转录本大小约为7.2 KB。使用竞争技术和文库筛选，克隆了整个cDNA。通过对正常和患家族性心房颤动的家庭成员的编码区和剪接功能进行测序来评估该基因。此外，产生了来自受影响患者的单倍体细胞系，并分析了PCR可能遗漏的缺失。结果我们鉴定了该基因的两个不同的交替剪接的转录本。 DLG5基因的基因组序列跨度为79 KB，带有32个外显子，被证明具有无处不在的人类组织表达，包括胎盘，心脏，骨骼肌，肝脏和胰腺。结论DLG5的完整cDNA已被鉴定，测序并确定了其基因组结构。

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