De Lorenzi Lisa, Planas Jordi, Rossi Elena, Malagutti Luca, Parma Pietro
Department of Agricultural and Environmental Sciences, Milan University, Via Celoria 2, 20133, Milan, Italy.
Chromosome Res. 2015 Jun;23(2):225-35. doi: 10.1007/s10577-014-9462-4. Epub 2015 Jan 23.
Cattle (Bos taurus) and goat (Capra hircus) belong to the Bovidae family, and they share a common ancestor 19.7-21.5 Ma ago (MYA). The Bovidae family apparently experienced a rapid species radiation in the middle Miocene. The present day cattle and goat possess the same diploid chromosome number (2n = 60) and structurally similar autosomes, except that a small subcentromeric portion of cattle chromosome nine has been translocated to goat chromosome 14. In this study, we adopted a new strategy that involves the use of bioinformatics approach to detect unknown cryptic chromosome divergences between cattle and goat using and subsequent validation using the fluorescence in situ hybridization (FISH) of bacterial artificial chromosome clones. We identified two hypothetical discrepancies between the cattle and goat genome assemblies: an inversion in the goat chromosome 13 and a transposition in the goat chromosome 6. The FISH technique allowed clear validation of the existence of a new 7.4 Mb chromosomal inversion in the goat chromosome 13. Regarding the transposition in the goat chromosome six, FISH analyses revealed that the cattle and goat genomes shared the same organization, with the assembly of the goat genome being the correct one. Moreover, we defined, for the first time, the size and orientation of the translocated fragment involved in the evolutionary translocation between cattle chromosomes 9 and goat chromosome 14. Our results suggest that bioinformatics represents an efficient method for detecting cryptic chromosome divergences among species.
牛(Bos taurus)和山羊(Capra hircus)属于牛科,它们拥有一个距今1970 - 2150万年前(百万年前,MYA)的共同祖先。牛科在中新世中期显然经历了一次快速的物种辐射。如今的牛和山羊拥有相同的二倍体染色体数目(2n = 60)以及结构相似的常染色体,只是牛的9号染色体上一小段着丝粒附近区域易位到了山羊的14号染色体上。在本研究中,我们采用了一种新策略,即利用生物信息学方法检测牛和山羊之间未知的隐匿染色体差异,并随后使用细菌人工染色体克隆的荧光原位杂交(FISH)进行验证。我们在牛和山羊的基因组组装中发现了两个假设的差异:山羊13号染色体上的一个倒位和山羊6号染色体上的一个转座。FISH技术清晰地验证了山羊13号染色体上一个新的7.4 Mb染色体倒位的存在。关于山羊6号染色体上的转座,FISH分析表明牛和山羊基因组具有相同的组织结构,但山羊基因组的组装是正确的。此外,我们首次确定了牛9号染色体和山羊14号染色体之间进化易位所涉及的易位片段的大小和方向。我们的结果表明,生物信息学是检测物种间隐匿染色体差异的一种有效方法。