Pontius Joan U, Mullikin James C, Smith Douglas R, Lindblad-Toh Kerstin, Gnerre Sante, Clamp Michele, Chang Jean, Stephens Robert, Neelam Beena, Volfovsky Natalia, Schäffer Alejandro A, Agarwala Richa, Narfström Kristina, Murphy William J, Giger Urs, Roca Alfred L, Antunes Agostinho, Menotti-Raymond Marilyn, Yuhki Naoya, Pecon-Slattery Jill, Johnson Warren E, Bourque Guillaume, Tesler Glenn, O'Brien Stephen J
Laboratory of Genomic Diversity, SAIC-Frederick, Inc., NCI-Frederick, Frederick, Maryland 21702, USA.
Genome Res. 2007 Nov;17(11):1675-89. doi: 10.1101/gr.6380007.
The genome sequence (1.9-fold coverage) of an inbred Abyssinian domestic cat was assembled, mapped, and annotated with a comparative approach that involved cross-reference to annotated genome assemblies of six mammals (human, chimpanzee, mouse, rat, dog, and cow). The results resolved chromosomal positions for 663,480 contigs, 20,285 putative feline gene orthologs, and 133,499 conserved sequence blocks (CSBs). Additional annotated features include repetitive elements, endogenous retroviral sequences, nuclear mitochondrial (numt) sequences, micro-RNAs, and evolutionary breakpoints that suggest historic balancing of translocation and inversion incidences in distinct mammalian lineages. Large numbers of single nucleotide polymorphisms (SNPs), deletion insertion polymorphisms (DIPs), and short tandem repeats (STRs), suitable for linkage or association studies were characterized in the context of long stretches of chromosome homozygosity. In spite of the light coverage capturing approximately 65% of euchromatin sequence from the cat genome, these comparative insights shed new light on the tempo and mode of gene/genome evolution in mammals, promise several research applications for the cat, and also illustrate that a comparative approach using more deeply covered mammals provides an informative, preliminary annotation of a light (1.9-fold) coverage mammal genome sequence.
采用一种比较方法,对一只近交阿比西尼亚家猫的基因组序列(1.9倍覆盖率)进行了组装、定位和注释,该方法涉及与六种哺乳动物(人类、黑猩猩、小鼠、大鼠、狗和牛)的注释基因组组装进行交叉参考。结果确定了663480个重叠群、20285个假定的猫科基因直系同源物和133499个保守序列块(CSB)的染色体位置。其他注释特征包括重复元件、内源性逆转录病毒序列、核线粒体(numt)序列、微小RNA以及进化断点,这些断点表明不同哺乳动物谱系中易位和倒位发生率的历史平衡。在长片段染色体纯合性背景下鉴定出了大量适合连锁或关联研究的单核苷酸多态性(SNP)、缺失插入多态性(DIP)和短串联重复(STR)。尽管低覆盖率仅捕获了猫基因组约65%的常染色质序列,但这些比较性见解为哺乳动物基因/基因组进化的速度和模式提供了新的认识,为猫的多项研究应用带来希望,同时也表明使用覆盖率更高的哺乳动物进行比较的方法能够为低覆盖率(1.9倍)的哺乳动物基因组序列提供信息丰富的初步注释。