利用大规模平行测序技术对家犬(韩国珍岛犬)进行基因组分析。
Genome analysis of the domestic dog (Korean Jindo) by massively parallel sequencing.
机构信息
Genome Resource Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon, Korea.
出版信息
DNA Res. 2012 Jun;19(3):275-87. doi: 10.1093/dnares/dss011. Epub 2012 Apr 3.
Although pioneering sequencing projects have shed light on the boxer and poodle genomes, a number of challenges need to be met before the sequencing and annotation of the dog genome can be considered complete. Here, we present the DNA sequence of the Jindo dog genome, sequenced to 45-fold average coverage using Illumina massively parallel sequencing technology. A comparison of the sequence to the reference boxer genome led to the identification of 4 675 437 single nucleotide polymorphisms (SNPs, including 3 346 058 novel SNPs), 71 642 indels and 8131 structural variations. Of these, 339 non-synonymous SNPs and 3 indels are located within coding sequences (CDS). In particular, 3 non-synonymous SNPs and a 26-bp deletion occur in the TCOF1 locus, implying that the difference observed in cranial facial morphology between Jindo and boxer dogs might be influenced by those variations. Through the annotation of the Jindo olfactory receptor gene family, we found 2 unique olfactory receptor genes and 236 olfactory receptor genes harbouring non-synonymous homozygous SNPs that are likely to affect smelling capability. In addition, we determined the DNA sequence of the Jindo dog mitochondrial genome and identified Jindo dog-specific mtDNA genotypes. This Jindo genome data upgrade our understanding of dog genomic architecture and will be a very valuable resource for investigating not only dog genetics and genomics but also human and dog disease genetics and comparative genomics.
虽然先驱性的测序项目已经揭示了拳师犬和贵宾犬的基因组,但在测序和注释犬基因组被认为完整之前,还需要解决许多挑战。在这里,我们展示了金刀犬基因组的 DNA 序列,使用 Illumina 大规模平行测序技术进行了 45 倍的平均覆盖测序。将该序列与参考拳师犬基因组进行比较,确定了 4675437 个单核苷酸多态性(SNP,包括 3346058 个新的 SNP)、71642 个插入缺失和 8131 个结构变异。其中,339 个非同义 SNP 和 3 个插入缺失位于编码序列(CDS)内。特别是,3 个非同义 SNP 和一个 26 碱基对的缺失发生在 TCOF1 基因座,这表明金刀犬和拳师犬在颅面形态上的差异可能受到这些变异的影响。通过对金刀犬嗅觉受体基因家族的注释,我们发现了 2 个独特的嗅觉受体基因和 236 个含有非同义纯合 SNP 的嗅觉受体基因,这些 SNP 可能影响嗅觉能力。此外,我们确定了金刀犬线粒体基因组的 DNA 序列,并鉴定了金刀犬特异性的 mtDNA 基因型。该金刀犬基因组数据提高了我们对犬基因组结构的理解,不仅将成为研究犬遗传学和基因组学的宝贵资源,还将成为研究人类和犬疾病遗传学和比较基因组学的宝贵资源。