Smurfit Institute of Genetics, Trinity College, Dublin, Ireland.
PLoS One. 2010 Feb 17;5(2):e9255. doi: 10.1371/journal.pone.0009255.
The derivation of domestic cattle from the extinct wild aurochs (Bos primigenius) has been well-documented by archaeological and genetic studies. Genetic studies point towards the Neolithic Near East as the centre of origin for Bos taurus, with some lines of evidence suggesting possible, albeit rare, genetic contributions from locally domesticated wild aurochsen across Eurasia. Inferences from these investigations have been based largely on the analysis of partial mitochondrial DNA sequences generated from modern animals, with limited sequence data from ancient aurochsen samples. Recent developments in DNA sequencing technologies, however, are affording new opportunities for the examination of genetic material retrieved from extinct species, providing new insight into their evolutionary history. Here we present DNA sequence analysis of the first complete mitochondrial genome (16,338 base pairs) from an archaeologically-verified and exceptionally-well preserved aurochs bone sample.
DNA extracts were generated from an aurochs humerus bone sample recovered from a cave site located in Derbyshire, England and radiocarbon-dated to 6,738+/-68 calibrated years before present. These extracts were prepared for both Sanger and next generation DNA sequencing technologies (Illumina Genome Analyzer). In total, 289.9 megabases (22.48%) of the post-filtered DNA sequences generated using the Illumina Genome Analyzer from this sample mapped with confidence to the bovine genome. A consensus B. primigenius mitochondrial genome sequence was constructed and was analysed alongside all available complete bovine mitochondrial genome sequences.
For all nucleotide positions where both Sanger and Illumina Genome Analyzer sequencing methods gave high-confidence calls, no discrepancies were observed. Sequence analysis reveals evidence of heteroplasmy in this sample and places this mitochondrial genome sequence securely within a previously identified aurochsen haplogroup (haplogroup P), thus providing novel insights into pre-domestic patterns of variation. The high proportion of authentic, endogenous aurochs DNA preserved in this sample bodes well for future efforts to determine the complete genome sequence of a wild ancestor of domestic cattle.
考古学和遗传学研究充分证明了家养牛是从已灭绝的野生原牛(Bos primigenius)进化而来的。遗传学研究表明,新石器时代近东是家牛的起源中心,有一些证据表明,在欧亚大陆,家养的野生原牛可能偶尔也会有基因贡献,但非常罕见。这些研究的推论主要是基于对现代动物的部分线粒体 DNA 序列进行分析,而来自古代原牛样本的序列数据有限。然而,DNA 测序技术的最新进展为从已灭绝物种中提取的遗传物质的检查提供了新的机会,为它们的进化历史提供了新的见解。在这里,我们展示了对来自英国德比郡一个洞穴遗址的经考古验证且保存异常完好的原牛骨样本的第一个完整线粒体基因组(16338 个碱基对)的 DNA 序列分析。
从德比郡一个洞穴遗址中提取的一段原牛肱骨骨样本中提取 DNA 提取物,该遗址经放射性碳年代测定为距今 6738+/-68 年。这些提取物被用于 Sanger 和下一代 DNA 测序技术(Illumina Genome Analyzer)。从该样本使用 Illumina Genome Analyzer 总共生成了 289.9 兆碱基(22.48%)的过滤后 DNA 序列,这些序列可以与牛基因组进行置信映射。构建了一个共识 B. primigenius 线粒体基因组序列,并与所有可用的完整牛线粒体基因组序列进行了分析。
对于 Sanger 和 Illumina Genome Analyzer 测序方法都给出高可信度结果的所有核苷酸位置,都没有观察到差异。序列分析表明该样本存在异质性,并将该线粒体基因组序列安全地置于先前确定的原牛 haplogroup(haplogroup P)内,从而为家牛的野生祖先的种内变异模式提供了新的见解。该样本中保存了大量真实的、内源性的原牛 DNA,这为未来确定家牛野生祖先的完整基因组序列的努力提供了良好的前景。