Guilherme Mota Souza’s research while affiliated with Federal University of São Carlos and other places

Contrasting with most bird species that present an ancestral-like karyotype (with 2n = 80), the only extant Cariamidae birds, the Red-legged (Cariama cristata) and Black-legged (Chunga burmeisteri) Seriemas, have high 2n and atypically large Z chromosomes. This study combined cytogenetic, bioinformatic, and genomic analyses to examine the distinctive characteristics of an unusual bird karyotype, with a focus on repetitive elements and sex chromosomes. Whole-genome alignments and chromosomal painting with a Z-chromosome-specific probe were also performed against the emu (a species with an ancestral-like karyotype). The satellitomes of C. cristata and C. burmeisteri were composed of only four and 6 long satDNAs, respectively. These satDNAs showed similarity with other repetitive sequences, mostly transposable elements, and were mapped in the pericentromeric regions of several chromosome pairs. CcrSat02-1104 mostly covered the Z and W sex chromosomes, besides being spread throughout additional chromosomes. Interstitial telomeric sites were not detected, even in the Z chromosome, and none of the 16 microsatellites tested showed positive signals on the C. cristata chromosomes. The genome alignments showed that the karyotype evolution that occurred in C. cristata may have involved significant chromosomal reshuffling, particularly fission. Notwithstanding certain internal inversions, the Z chromosome retained homology with that of the emu. However, repetitive sequences also accumulated on the Z chromosome, contributing to its enlargement relative to the pattern observed in ancestral avian groups.

Do all birds' sex chromosomes follow the same canonical one-way direction of evolution? We combined cytogenetic and genomic approaches to analyze the process of the W chromosomal differentiation in two selected Passeriform species, named the Pale-breasted Thrush Turdus leucomelas and the Rufous-bellied thrush T. rufiventris. We characterized the full catalog of satellite DNAs (satellitome) of T. leucomelas, and the 10 TleSatDNA classes obtained together with 16 microsatellite motifs were in situ mapped in both species. Additionally, using Comparative Genomic Hybridization (CGH) assays, we investigated their intragenomic variations. The W chromosomes of both species did not accumulate higher amounts of both heterochromatin and repetitive sequences. However, while T. leucomelas showed a heterochromatin-poor W chromosome with a very complex evolutionary history, T. rufiventris showed a small and partially heterochromatic W chromosome that represents a differentiated version of its original autosomal complement (Z chromosome). The combined approach of CGH and sequential satDNA mapping suggest the occurrence of a former W-autosomal translocation event in T. leucomelas, which had an impact on the W chromosome in terms of sequence gains and losses. At the same time, an autosome, which is present in both males and females in a polymorphic state, lost sequences and integrated previously W-specific ones. This putative W-autosomal translocation, however, did not result in the emergence of a multiple-sex chromosome system. Instead, the generation of a neo-W chromosome suggests an unexpected evolutionary trajectory that deviates from the standard canonical model of sex chromosome evolution.

Charadriiformes, which comprises shorebirds and their relatives, is one of the most diverse avian orders, with over 390 species showing a wide range of karyotypes. Here, we isolated and characterized the whole collection of satellite DNAs (satDNAs) at both molecular and cytogenetic levels of one of its representative species, named the wattled jacana (Jacana jacana), a species that contains a typical ZZ/ZW sex chromosome system and a highly rearranged karyotype. In addition, we also investigate the in situ location of telomeric and microsatellite repeats. A small catalog of 11 satDNAs was identified that typically accumulated on microchromosomes and on the W chromosome. The latter also showed a significant accumulation of telomeric signals, being (GA)10 the only microsatellite with positive hybridization signals among all the 16 tested ones. These current findings contribute to our understanding of the genomic organization of repetitive DNAs in a bird species with high degree of chromosomal reorganization contrary to the majority of bird species that have stable karyotypes.