A. Vieira-da-Silva

The involvement of repetitive sequences in the remodelling of karyotypes: the Phodopus genomes (Rodentia, Cricetidae).

In this work we characterize the Phodopus roborovskii and Phodopus sungorus karyotypes, describing the constitutive heterochromatin and the telomeric repeats distribution in these chromosomes. In the two species, (peri)centromeric, interstitial and (sub)telomeric C-bands were revealed, presenting a very high colocalization with evolutionary breakpoint regions identified in these karyotypes. Also both species present telomeric sequences located interstitially (ITS), as short ITS blocks or as large ITS blocks, mainly at the (peri)centromeric heterochromatic regions. The number and degree of ITSs amplification varies greatly in the two hamsters, indicating independent evolutionary events of these repeats in each genome. The combination of the data provided interesting insights about the genome organization of these hamster species, also allowing establishing evolutionary considerations on their chromosomes. The obtained results clearly suggest an involvement of the repetitive genomic fraction in the reshaping of P. roborovskii and P. sungorus karyotypes.

A novel satellite DNA sequence in the Peromyscus genome (PMSat): Evolution via copy number fluctuation.

Satellite DNAs (satDNA) are tandemly arrayed repeated sequences largely present in eukaryotic genomes, which play important roles in genome evolution and function, and therefore, their analysis is vital. Here, we describe the isolation of a novel satellite DNA family (PMSat) from the rodent Peromyscus eremicus (Cricetidae, Rodentia), which is located in pericentromeric regions and exhibits a typical satellite DNA genome organization. Orthologous PMSat sequences were isolated and characterized from three species belonging to Cricetidae: Cricetus cricetus, Phodopus sungorus and Microtus arvalis. In these species, PMSat is highly conserved, with the absence of fixed species-specific mutations. Strikingly, different numbers of copies of this sequence were found among the species, suggesting evolution by copy number fluctuation. Repeat units of PMSat were also found in the Peromyscus maniculatus bairdii BioProject, but our results suggest that these repeat units are from genome regions outside the pericentromere. The remarkably high evolutionary sequence conservation along with the preservation of a few numbers of copies of this sequence in the analyzed genomes may suggest functional significance but a different sequence nature/organization. Our data highlight that repeats are difficult to analyze due to the limited tools available to dissect genomes and the fact that assemblies do not cover regions of constitutive heterochromatin.

A High-Resolution Comparative Chromosome Map of Cricetus cricetus and Peromyscus eremicus Reveals the Involvement of Constitutive Heterochromatin in Breakpoint Regions

Compared to humans and other mammals, rodent genomes, specifically Muroidea species, underwent intense chromosome reshuffling in which many complex structural rearrangements occurred. This fact makes them preferential animal models for studying the process of karyotype evolution. Here, we present the first combined chromosome comparative maps between 2 Cricetidae species, Cricetus cricetus and Peromyscus eremicus, and the index species Mus musculus and Rattus norvegicus. Comparative chromosome painting was done using mouse and rat paint probes together with in silico analysis from the Ensembl genome browser database. Hereby, evolutionary events (inter- and intrachromosomal rearrangements) that occurred in C. cricetus and P. eremicus since the putative ancestral Muroidea genome could be inferred, and evolutionary breakpoint regions could be detected. A colocalization of constitutive heterochromatin and evolutionary breakpoint regions in each genome was observed. Our results suggest the involvement of constitutive heterochromatin in karyotype restructuring of these species, despite the different levels of conservation of the C. cricetus (derivative) and P. eremicus (conserved) genomes.

LINE-1 distribution in six rodent genomes follow a species-specific pattern

L1 distribution in mammal’s genomes is yet a huge riddle. However, these repetitive sequences were already found in all chromosomic regions, and in general, they seem to be nonrandomly distributed in the genome. It also seems that after insertion and when they are not deleterious, they are always involved in dynamic processes occurring on that particular chromosomic region. Furthermore, it seems that large-scale genome rearrangements and L1 activity and accumulation are somehow interconnected. In the present study, we analysed L1 genomic distribution in Tateragambiana (Muridae, Gerbillinae), Acomys sp. (Muridae, Deomyinae), Cricetomys sp. (Nesomyidae, Cricetomyinae), Microtusarvalis (Cricetidae, Arvicolinae), Phodopus roborovskii and P. sungorus (Cricetidae, Cricetinae). All the species studied here seems to exhibit a species-specific pattern. Possible mechanisms, and processes involved in L1 distribution and preferential accumulation in certain regions are discussed.