Wang Wei, Kirkness Ewen F
The Institute for Genomic Research, Rockville, Maryland 20850, USA.
Genome Res. 2005 Dec;15(12):1798-808. doi: 10.1101/gr.3765505.
SINEs are retrotransposons that have enjoyed remarkable reproductive success during the course of mammalian evolution, and have played a major role in shaping mammalian genomes. Previously, an analysis of survey-sequence data from an individual dog (a poodle) indicated that canine genomes harbor a high frequency of alleles that differ only by the absence or presence of a SINEC_Cf repeat. Comparison of this survey-sequence data with a draft genome sequence of a distinct dog (a boxer) has confirmed this prediction, and revealed the chromosomal coordinates for >10,000 loci that are bimorphic for SINEC_Cf insertions. Analysis of SINE insertion sites from the genomes of nine additional dogs indicates that 3%-5% are absent from either the poodle or boxer genome sequences--suggesting that an additional 10,000 bimorphic loci could be readily identified in the general dog population. We describe a methodology that can be used to identify these loci, and could be adapted to exploit these bimorphic loci for genotyping purposes. Approximately half of all annotated canine genes contain SINEC_Cf repeats, and these elements are occasionally transcribed. When transcribed in the antisense orientation, they provide splice acceptor sites that can result in incorporation of novel exons. The high frequency of bimorphic SINE insertions in the dog population is predicted to provide numerous examples of allele-specific transcription patterns that will be valuable for the study of differential gene expression among multiple dog breeds.
短散在重复元件(SINEs)是逆转座子,在哺乳动物进化过程中获得了显著的繁殖成功,并在塑造哺乳动物基因组方面发挥了重要作用。此前,对一只个体犬(一只贵宾犬)的调查序列数据进行分析表明,犬类基因组中存在高频率的等位基因,这些等位基因仅因SINEC_Cf重复序列的缺失或存在而有所不同。将该调查序列数据与另一只不同犬(一只拳师犬)的基因组草图序列进行比较,证实了这一预测,并揭示了超过10000个SINEC_Cf插入双态性位点的染色体坐标。对另外九只犬的基因组中的SINE插入位点进行分析表明,贵宾犬或拳师犬的基因组序列中3%-5%的位点不存在——这表明在一般犬类群体中很容易识别出另外10000个双态性位点。我们描述了一种可用于识别这些位点的方法,并且该方法可进行调整以利用这些双态性位点进行基因分型。所有注释的犬类基因中约有一半包含SINEC_Cf重复序列,并且这些元件偶尔会被转录。当以反义方向转录时,它们会提供剪接受体位点,从而可能导致新外显子的掺入。预计犬类群体中双态性SINE插入的高频率将提供众多等位基因特异性转录模式的实例,这对于研究多个犬种之间的差异基因表达将具有重要价值。