首页> 外文期刊>European journal of human genetics: EJHG >Detailed transcript map of a 810-kb region at 11p14 involving identification of 10 novel human 3' exons.
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Detailed transcript map of a 810-kb region at 11p14 involving identification of 10 novel human 3' exons.

机译:810kb区域11p14的详细转录本图谱,涉及10个新的人类3'外显子的鉴定。

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A limited number of genes, including the human brain-derived neutrotrophic factor (BDNF) gene, have been identified in the human chromosome 11p14 region. Since this area is involved in a genetic disorder (WAGR syndrome) and because of interest in studying the regulation of the human BDNF gene, we have established a detailed transcript map of a 810-kb region clone in a yeast artificial chromosome (YAC), corresponding to a portion of this genomic locus. A set of nested deletion mutants has been generated to map genes at a mean resolution of 75kb. Four genic markers from available mapping databases have been mapped on the YAC. Ten potential novel human exons have been isolated by a 3' terminal exon trapping procedure directly applied to purified YAC DNA. Most of these exons display polyadenylation signals and they all yield positive signals in RT-PCR experiments, confirming their status of transcribed sequences. The BDNF gene is now co-localised with three other genes on a 120 kb DNA fragment.
机译:在人类染色体11p14区域中已鉴定出有限数量的基因,包括人类大脑衍生的中性营养因子(BDNF)基因。由于该区域涉及遗传疾病(WAGR综合征),并且由于对研究人类BDNF基因的调控感兴趣,因此我们在酵母人工染色体(YAC)中建立了810-kb区域克隆的详细转录图,对应于该基因组基因座的一部分。已经产生了一组嵌套的缺失突变体,以平均分辨率为75kb定位基因。来自可用的映射数据库的四个基因标记已在YAC上进行了映射。通过直接应用于纯化的YAC DNA的3'末端外显子捕获程序已分离出十个潜在的新型人类外显子。这些外显子中的大多数显示聚腺苷酸化信号,并且它们在RT-PCR实验中均产生阳性信号,从而证实了其转录序列的状态。现在,BDNF基因与其他三个基因共定位在120 kb DNA片段上。

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