Satellite DNA in the Karyotype Evolution of Domestic Animals – Clinical Considerations

Abstract

Eukaryotic genomes contain far more DNA than needed for coding proteins. Some of these additional DNA sequences comprise non-coding repetitive DNA sequences, mostly satellite DNAs and also transposable elements usually located at the heterochromatic regions of chromosomes. Satellite DNAs consist of tandemly repeated DNA sequences inhabiting the mammalian genome, typically organized in long arrays of hundreds or thousands of copies. Different important functions have been ascribed to satellite DNA, from the imperative centromeric function in mitosis and meiosis to the recent discovery of its involvement in regulatory functions via satellite transcripts. Moreover, satellite DNAs, among other repetitive sequences, are believed to be the ‘engine’ triggering mammalian genome evolution. Repetitive DNAs are, most likely, the genetic factors responsible for promoting genomic plasticity and therefore higher rates of chromosome mutation. Furthermore, constitutive heterochromatin regions are thought to be ‘hotspots’ for structural chromosome rearrangements. A considerable collection of evidences places these sequences in the landscape of mammalian evolution. However, the mechanisms that could explain how this alliance between chromosome evolution and satellite DNA is made are still enigmatic and subject of debate. Throughout the mammalian taxa, different patterns of chromosome evolution have been widely registered from heterochromatin additions/eliminations, Robertsonian translocations, whole-arm reciprocal translocations to tandem translocations; the fact is genome’s repetitive fraction is playing a central role in mammalian genome structuring. Throughout this review we will focus on the evidences that associate satellite DNAs and constitutive heterochromatin to the process of chromosome evolution and consequently to domestic species genome’s remodeling.