Nilsen H, Hayes B, Berg P R, Roseth A, Sundsaasen K K, Nilsen K, Lien S
Department of Animal and Aquacultural Sciences, The Norwegian University of Life Sciences, N-1432 Aas, Norway.
Anim Genet. 2008 Apr;39(2):97-104. doi: 10.1111/j.1365-2052.2007.01686.x. Epub 2008 Feb 26.
A linkage map was constructed for bovine chromosome 6 (BTA6), using 399 single nucleotide polymorphisms (SNPs) detected primarily from PCR-resequencing. The efficiency of SNP detection was highly dependent on the source of sequence information chosen for primer design (BAC-end sequences, introns or promoters). The SNPs were used to build a linkage map comprising 104 cM on BTA6. The SNP order in the linkage map corresponded very well with radiation hybrid (RH) maps available for BTA6 as well as with expected positions in the human comparative map, but diverged significantly from the current assembly of the bovine genome (Btau_3.1). When performing linkage analysis with the marker order suggested from the Btau_3.1 we observed an expansion of the genetic map from 104 cM to 137 cM, strongly suggesting a reordering of scaffolds in the current version of the bovine genome assembly. The extent of LD on BTA6 was evaluated by calculating the average r(2) for SNP pairs separated by given distances. The decline of LD was rapid with distance, such that r(2) was 0.1 at 100 kb. Our results indicate that linkage mapping will be a valuable source of information for correcting errors in the current bovine assembly. These errors were sufficiently frequent to be of concern for the accuracy of mapping QTL with panels of SNPs whose positions are based on the current assembly.
利用主要通过PCR重测序检测到的399个单核苷酸多态性(SNP)构建了牛6号染色体(BTA6)的连锁图谱。SNP检测效率高度依赖于为引物设计所选的序列信息来源(细菌人工染色体末端序列、内含子或启动子)。这些SNP用于构建BTA6上一个包含104厘摩(cM)的连锁图谱。连锁图谱中的SNP顺序与可用于BTA6的辐射杂种(RH)图谱以及人类比较图谱中的预期位置非常吻合,但与牛基因组的当前组装版本(Btau_3.1)有显著差异。当按照Btau_3.1所建议的标记顺序进行连锁分析时,我们观察到遗传图谱从104 cM扩展到了137 cM,这强烈表明牛基因组组装当前版本中的支架发生了重新排序。通过计算给定距离分隔的SNP对的平均r²来评估BTA6上的连锁不平衡(LD)程度。LD随距离迅速下降,在100 kb时r²为0.1。我们的结果表明,连锁图谱将成为纠正当前牛基因组组装错误的宝贵信息来源。这些错误足够频繁,以至于对于基于当前组装版本定位SNP面板的数量性状位点(QTL)的准确性而言值得关注。