Chromosomal Analysis in Crotophaga ani (Aves, Cuculiformes) Reveals Extensive Genomic Reorganization and an Unusual Z-Autosome Robertsonian Translocation

Although cytogenetics studies in cuckoos (Aves, Cuculiformes) have demonstrated an interesting karyotype variation, such as variations in the chromosome morphology and diploid number, their chromosome organization and evolution, and relation with other birds are poorly understood. Hence, we combined conventional and molecular cytogenetic approaches to investigate chromosome homologies between chicken and the smooth-billed ani (Crotophaga ani). Our results demonstrate extensive chromosome reorganization in C. ani, with interchromosomal rearrangements involving macro and microchromosomes. Intrachromosomal rearrangements were observed in some macrochromosomes, including the Z chromosome. The most evolutionary notable finding was a Robertsonian translocation between the microchromosome 17 and the Z chromosome, a rare event in birds. Additionally, the simple short repeats (SSRs) tested here were preferentially accumulated in the microchromosomes and in the Z and W chromosomes, showing no relationship with the constitutive heterochromatin regions, except in the W chromosome. Taken together, our results suggest that the avian sex chromosome is more complex than previously postulated and revealed the role of microchromosomes in the avian sex chromosome evolution, especially cuckoos.

Genomic reorganization underliesLMNA-associated cardiomyopathies

Mutations inLMNAresult in dilated cardiomyopathy through disruption of chromatin organization, methylation, and aberrant gene expression.

Microstructural chromosome reorganization in the genus Trichomycterus (Siluriformes: Trichomycteridae)

Trichomycterus is a specious fish genus within Trichomycterinae and displays remarkable karyotype diversity. However, knowledge about their genomic structure and location of repetitive sequence is still limited. In order to better understand the karyotype diversification, we analyzed nine species of Trichomycterus using classical and molecular cytogenetic techniques. Results revealed a conserved diploid chromosome number of 2n=54 chromosomes in all analyzed species, although remarkable differences on the constitutive heterochromatin distribution were observed. In addition, while the 18S rDNA showed a conserved distribution pattern, the 5S rDNA sites showed a quite diverse location considering the analyzed species. Remarkably, both ribosomal genes were co-located in all species, except in T . iheringi , suggesting that co-localization is probably an ancestral condition in Trichomycterus . Finally, three analyzed species showed heterochromatic B chromosomes, reinforcing the intense genomic reorganization occurring in Trichomycterus . Our results showed that chromosomal variations are not restricted to differences in karyotype formula as previously proposed, but also to modifications on the microstructural level of resolution.