Jeon J T, Amarger V, Rogel-Gaillard C, Robic A, Bongcam-Rudloff E, Paul S, Looft C, Milan D, Chardon P, Andersson L
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, S-751 24, Sweden.
Genomics. 2001 Mar 15;72(3):297-303. doi: 10.1006/geno.2000.6495.
The poorly developed transcript maps and the limited resources for genome analysis hamper positional cloning of trait loci in farm animals. This study demonstrates that this will now be easier by the combined use of BAC contigs and the import of the near complete human transcript map. The conclusion was obtained by a comparative analysis of a 2.4-Mb BAC contig of the RN region in pigs. The contig was constructed as part of a successful positional cloning project, which identified PRKAG3 as the causative gene for the RN phenotype. A comparative map including the corresponding regions on human chromosome 2q35 and mouse chromosome 1 (region 36-44 cM) is reported. Sixteen coding sequences were mapped on the BAC contig. The majority of these were identified by BLAST searches of BAC end sequences and BAC shotgun sequences generated during the positional cloning project. Map data for the orthologues in humans were available for 12 of the 16 coding sequences, and all 12 have been assigned to 2q35. Furthermore, no evidence for any rearrangement in gene order was obtained. The extensive linkage conservation indicates that the near complete human transcript map will be an invaluable resource for positional cloning projects in pigs and other domestic animals.
发育不完善的转录图谱以及基因组分析资源的有限，阻碍了家畜性状基因座的定位克隆。本研究表明，通过结合使用细菌人工染色体（BAC）重叠群和引入近乎完整的人类转录图谱，现在进行定位克隆将变得更加容易。这一结论是通过对猪RN区域一个2.4兆碱基的BAC重叠群进行比较分析得出的。该重叠群是作为一个成功的定位克隆项目的一部分构建的，该项目确定PRKAG3是RN表型的致病基因。本文报道了一个比较图谱，其中包括人类2号染色体q35区域和小鼠1号染色体（36 - 44厘摩区域）的相应区域。16个编码序列被定位到BAC重叠群上。其中大多数是通过对BAC末端序列和定位克隆项目中产生的BAC鸟枪法序列进行BLAST搜索鉴定出来的。16个编码序列中有12个在人类中的直系同源物的图谱数据是可用的，并且所有12个都已被定位到2q35。此外，没有获得基因顺序发生任何重排的证据。广泛的连锁保守性表明，近乎完整的人类转录图谱将成为猪和其他家畜定位克隆项目的宝贵资源。
