The endemic New Zealand frog, Leiopelma hochstetteri, is characterized by variable numbers of mitotically-stable B chromosomes. In order to assess whether the B chromosomes had been derived from the autosome complement, B DNA was isolated and amplified by micromanipulation in conjunction with degenerate oligonucleotide-primed PCR. Southern hybridization patterns of B DNA probes to genomic DNA from males and females characterized by differing numbers of B's demonstrated that the B chromosomes were derived from the univalent W chromosome which is specific to females. The presence of homologous B specific sequences in B chromosomes from geographically-distinct populations show that only a single univalent W to B event had occurred. Furthermore, a plesiomorphic homology shows that the B chromosomes originated soon after the univalent W had been derived from the ancestral WZ/ZZ karyotype, which is still present in frogs from Great Barrier Island. Finally, sequence analysis of the probes reveals that B DNA is composed of repeat sequences, and has the ability to form stable hairpin structures in vivo. The molecular dynamics of these structures may reflect the inherent propensity to undergo rapid change in nucleotide sequence and chromosome structure.

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Thesis--University of the Witwatersrand. / Bibliography: p. [363]-384.

Thesis--University of the Witwatersrand. / Bibliography: p. [363]-384.

Sex chromosomes experience distinct evolutionary environments, due to their unusual pattern of inheritance, and studies of sex chromosome evolution can shed light on the fundamental evolutionary forces acting across the genome as a whole. Here, I combine genomic and transcriptomic data across a wide range of avian species to explore the evolutionary processes governing sex chromosome evolution. Birds are female heterogametic and therefore it is possible, via comparisons with male heterogametic species, to identify the fundamental factors driving sex chromosome evolution, versus those associated with sex. In this thesis, I uncover a complex mosaic of recombination suppression between the Z and W chromosomes, characterized by repeated and independent divergence of gametologs, together with ongoing genetic exchange. Additionally, I highlight the role of mating system, and interplay between evolutionary forces, in driving coding and expression evolution on the Z and W chromosomes. My findings indicate that although the Z chromosome is masculinized for male-specific effects, the magnitude of genetic drift acting on Z-linked genes is elevated in promiscuous relative to monogamous mating systems. In contrast, evolution of the female-limited W chromosome is governed predominately by purifying selection. Together, my results suggest that the role of the Z chromosome in encoding sexual dimorphisms may be limited, but that W-linked genes play a significant role in female-specific fitness. In conclusion, my findings reveal the power of mating system in shaping broad patterns of genome evolution.

Squamate reptiles in general possess an unusual variability in karyotype and sex determining mechanisms. However, in these two aspects, iguanas (Pleurodonts) are considered as a relatively conservative group of lizards. So far only genotypic sex determination with male heterogamety has been detected in this lineage. However, the sex chromosomes have not been revealed in many species by classical cytogenetics, probably due to their homomorphy. Significant variability in karyotype was observed only in the species-rich genera Anolis, Sceloporus and Liolaemus. The aim of this thesis was to investigate the genome of available species from the main iguanid lineages using classical and molecular cytogenetic methods. As well as finding the karyotype characteristics, which may represent synapomorphies of main iguanid lineages, the other aim was to try to identify sex chromosomes. This study confirmed previously published karyotypes of 13 species and established new descriptions of karyotype for eight species. The chromosomes of all studied specimens were examined by methods of classical and molecular cytogenetics, 21 species covering eight iguanid families were analysed in this thesis. The majority of studied species shared the apparently ancestral karyotype of the group, with diploid chromosome number...

Sex determination among reptiles is a very variable matter across it's taxa. We meet there temperature sex determination and genotypic sex determination with many independent transitions between them. It is a group suitable to study evolution of sex determination, sex chromosomes and sex determination genes. Rare cases of sex reversal caused by extreme incubation temperature or exogenous hormones have been reported in recent years. In case of Acrodont lizard, Pogona vitticeps, was reported sex reversal caused by high incubation temperatures. Our purpose was to repeat the experiment, mainly due to insufficient conclusiveness of used methods. We wanted to expand the experiment by hormonal reversal, studying persistence of sex reversal to maturity and fertility of reversed individuals. We managed successfully to demonstrate sex reversal in both treatments by histological examination. Individuals with discordant phenotypic and genotypic sex were breed till one year of life, which demonstrate persistence of reversal. Our outcomes are concordant with most recent work on this species and show full functional phenomenon of sex reversal with reptiles, which studying could contribute to our understanding of evolution of sex determination.