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人类染色体7q22上基因密集的ACHE/TFR2区域与小鼠染色体5上直系同源区域的比较分析。

Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5.

作者信息

Wilson M D, Riemer C, Martindale D W, Schnupf P, Boright A P, Cheung T L, Hardy D M, Schwartz S, Scherer S W, Tsui L C, Miller W, Koop B F

机构信息

Department of Biology, Centre for Environmental Health, PO Box 3020, University of Victoria, Victoria, British Columbia V8W 3N5, Canada.

出版信息

Nucleic Acids Res. 2001 Mar 15;29(6):1352-65. doi: 10.1093/nar/29.6.1352.

Abstract

Chromosome 7q22 has been the focus of many cytogenetic and molecular studies aimed at delineating regions commonly deleted in myeloid leukemias and myelodysplastic syndromes. We have compared a gene-dense, GC-rich sub-region of 7q22 with the orthologous region on mouse chromosome 5. A physical map of 640 kb of genomic DNA from mouse chromosome 5 was derived from a series of overlapping bacterial artificial chromosomes. A 296 kb segment from the physical map, spanning ACHE: to Tfr2, was compared with 267 kb of human sequence. We identified a conserved linkage of 12 genes including an open reading frame flanked by ACHE: and Asr2, a novel cation-chloride cotransporter interacting protein Cip1, Ephb4, Zan and Perq1. While some of these genes have been previously described, in each case we present new data derived from our comparative sequence analysis. Adjacent unfinished sequence data from the mouse contains an orthologous block of 10 additional genes including three novel cDNA sequences that we subsequently mapped to human 7q22. Methods for displaying comparative genomic information, including unfinished sequence data, are becoming increasingly important. We supplement our printed comparative analysis with a new, Web-based program called Laj (local alignments with java). Laj provides interactive access to archived pairwise sequence alignments via the WWW. It displays synchronized views of a dot-plot, a percent identity plot, a nucleotide-level local alignment and a variety of relevant annotations. Our mouse-human comparison can be viewed at http://web.uvic.ca/~bioweb/laj.html. Laj is available at http://bio.cse.psu.edu/, along with online documentation and additional examples of annotated genomic regions.

摘要

7号染色体q22区域一直是众多细胞遗传学和分子研究的焦点,这些研究旨在描绘髓系白血病和骨髓增生异常综合征中常见缺失的区域。我们将7q22基因密集、富含GC的亚区域与小鼠5号染色体上的同源区域进行了比较。从小鼠5号染色体上获得了640kb基因组DNA的物理图谱,该图谱来自一系列重叠的细菌人工染色体。将物理图谱中跨越ACHE至Tfr2的296kb片段与267kb的人类序列进行了比较。我们确定了12个基因的保守连锁,包括一个由ACHE和Asr2侧翼的开放阅读框、一种新型阳离子-氯离子共转运蛋白相互作用蛋白Cip1、Ephb4、Zan和Perq1。虽然其中一些基因此前已有描述,但在每种情况下,我们都提供了来自比较序列分析的新数据。小鼠相邻的未完成序列数据包含另外10个基因的同源区域,其中包括三个新的cDNA序列,我们随后将其定位到人类7q22。显示比较基因组信息的方法,包括未完成序列数据,正变得越来越重要。我们用一个名为Laj(基于Java的局部比对)的新的基于网络的程序来补充我们的印刷版比较分析。Laj通过万维网提供对存档的成对序列比对的交互式访问。它显示点阵图、同一性百分比图、核苷酸水平的局部比对以及各种相关注释的同步视图。我们的小鼠-人类比较可在http://web.uvic.ca/~bioweb/laj.html查看。Laj可在http://bio.cse.psu.edu/获取,同时还有在线文档和注释基因组区域示例。

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