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通过EST数据库搜索鉴定与果蝇突变基因同源的人类cDNA并进行图谱绘制。

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

作者信息

Banfi S, Borsani G, Rossi E, Bernard L, Guffanti A, Rubboli F, Marchitiello A, Giglio S, Coluccia E, Zollo M, Zuffardi O, Ballabio A

机构信息

Telethon Institute of Genetics and Medicine (TIGEM) Milan, Italy.

出版信息

Nat Genet. 1996 Jun;13(2):167-74. doi: 10.1038/ng0696-167.

Abstract

Cross-species comparison is an effective tool used to identify genes and study their function in both normal and pathological conditions. We have applied the power of Drosophila genetics to the vast resource of human cDNAs represented in the expressed sequence tag (EST) database (dbEST) to identify novel human genes of high biological interest. Sixty-six human cDNAs showing significant homology to genes causing Drosophila mutant phenotypes were identified by screening dbEST using the "text string' option, and their map position was determined using both fluorescence in situ hybridization (FISH) and radiation hybrid mapping. Comparison between these genes and their putative partners in Drosophila may provide important insights into their function in mammals. Furthermore, integration of these genes into the transcription map of the human genome contributes to the positional candidate approach for disease gene identification.

摘要

跨物种比较是一种用于识别基因并研究其在正常和病理条件下功能的有效工具。我们已将果蝇遗传学的力量应用于表达序列标签(EST)数据库(dbEST)中所代表的大量人类cDNA资源,以识别具有高度生物学意义的新型人类基因。通过使用“文本字符串”选项筛选dbEST,鉴定出66个人类cDNA与导致果蝇突变表型的基因具有显著同源性,并使用荧光原位杂交(FISH)和辐射杂种图谱确定了它们的图谱位置。这些基因与其在果蝇中的假定对应物之间的比较可能为它们在哺乳动物中的功能提供重要见解。此外,将这些基因整合到人类基因组的转录图谱中有助于采用位置候选方法来识别疾病基因。

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