Cichlid fishes from the East African Rift lakes Victoria, Tanganyika and Malawi represent a preeminent example of replicated and rapid evolutionary radiation. In this single natural system, numerous morphological (eg. jaw and tooth shape, color patterns, visual sensitivity), behavioral (eg. bower-building) and physiological (eg. development, neural patterning) phenotypes have emerged, much akin to a mutagenic screen. This dissertation encompasses three studies that seek to decipher the underpinnings of such rapid evolutionary diversification, investigated via the genetic variation in East African cichlids. We generated a valuable cichlid genomic resource of five low-coverage Lake Malawi cichlid genomes, from which the general properties of the genome were characterized. Nucleotide diversity of Malawi cichlids was low at 0.26%, and a sample genotyping study found that biallelic polymorphisms segregate widely throughout the Malawi species flock, making each species a mosaic of ancestrally polymorphic genomes. A second genotyping study expanded our evolutionary analysis to cover the entire East African cichlid radiation, where we found that more than 40% of single nucleotide polymorphisms (SNPs) were ancestral polymorphisms shared across multiple lakes. Bayesian analysis of genetic structure in the data supported the hypothesis that riverine species had contributed significantly to the genomes of Malawi cichlids and that Lake Malawi cichlids are not monophyletic. Both genotyping studies also identified interesting loci involved in important sensory as well as developmental pathways that were well differentiated between species and lineages. We also investigated cichlid genetic variation in relation to the evolution of microRNA regulation, and found that divergent selection on miRNA target sites may have led to differential gene expression, which contributed to the diversification of cichlid species. Overall, the patterns of cichlid genetic variation seem to be dominated by the phenomena of extensive sharing of ancestral polymorphisms. We thus believe that standing genetic variation in the form of ancestrally inherited polymorphisms, as opposed to variations arising from new mutations, provides much of the genetic diversity on which selection acts, allowing for the rapid and repeated adaptive radiation of East African cichlids.

Made available in DSpace on 2014-06-11T19:26:07Z (GMT). No. of bitstreams: 0 Previous issue date: 2008-05-27Bitstream added on 2014-06-13T19:33:20Z : No. of bitstreams: 1 carnelossi_eag_me_jabo.pdf: 5963862 bytes, checksum: c9072ade5521cd6b029cd77e62872e7a (MD5) / Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) / O veado-mateiro (Mazama americana) possui uma ampla distribuição geográfica na região neotropical. Estudos citogenéticos com a espécie revelam variações cromossômicas (citótipos) que apontam sua divisão em outras espécies. Neste trabalho, foram examinadas as relações filogenéticas desta espécie, analisando parte dos genes mitocondriais (citocromo-b e região controladora D-loop), dos genes nucleares (Beta e Kapa caseínas e do exon I do gene IRBP) e um fragmento do gene, presente no cromossomo Y, chamado SRY, para amostras de 19 indivíduos provenientes de diferentes regiões do Brasil. Os genes nucleares da kapa e beta caseína e do SRY, mostraram-se monomórficos, não sendo possível a obtenção de sequências para o gene IRBP. As inferências filogenéticas pelos genes mitocondriais revelam duas linhagens evolutivas, a dos indivíduos das populações da Bacia do Rio Paraná e a dos indivíduos do oeste da Bacia do Rio Amazonas. Também houve uma correlação entre os diferentes cariótipos e as distintas linhagens moleculares encontradas. Além disso, pode-se sugerir a ocorrência de convergência evolutiva entre estes grupos, bem como um possível caso de simpatria ou de retenção de polimorfismo ancestral nos indivíduos do leste da Amazônia. / The red brocket deer (Mazama americana) has a wide distribution in Neotropics. In this regard, cytogenetic studies in this species revealed chromosomic variations (cytotypes) which strongly suggest that red brockets can be divided into other species. In the present study, we examined phylogenetic relationships of 19 samples of individuals from different areas of Brazil through mitochondrial (cytochrome b and control region D-loop), nuclear (b-casein, k-casein, and first exon of the IRBP) and SRY gene analysis. The sequence analysis showed that b- and k-caseins as well as SRY nuclear genes were monomorphic, whereas IBRP gene sequencing was not possible. Phylogenetic inferences concerning mitochondrial gene analysis demonstrated two evolutionary lineages, one from Parana River Basin (southeast Brazil) and other from west of Amazon River Basin (northwest Brazil). Moreover, we found correlation between different karyotypes and distinct molecular lineages.

Resumo: O veado-mateiro (Mazama americana) possui uma ampla distribuição geográfica na região neotropical. Estudos citogenéticos com a espécie revelam variações cromossômicas (citótipos) que apontam sua divisão em outras espécies. Neste trabalho, foram examinadas as relações filogenéticas desta espécie, analisando parte dos genes mitocondriais (citocromo-b e região controladora D-loop), dos genes nucleares (Beta e Kapa caseínas e do exon I do gene IRBP) e um fragmento do gene, presente no cromossomo Y, chamado SRY, para amostras de 19 indivíduos provenientes de diferentes regiões do Brasil. Os genes nucleares da kapa e beta caseína e do SRY, mostraram-se monomórficos, não sendo possível a obtenção de sequências para o gene IRBP. As inferências filogenéticas pelos genes mitocondriais revelam duas linhagens evolutivas, a dos indivíduos das populações da Bacia do Rio Paraná e a dos indivíduos do oeste da Bacia do Rio Amazonas. Também houve uma correlação entre os diferentes cariótipos e as distintas linhagens moleculares encontradas. Além disso, pode-se sugerir a ocorrência de convergência evolutiva entre estes grupos, bem como um possível caso de simpatria ou de retenção de polimorfismo ancestral nos indivíduos do leste da Amazônia. / Abstract: The red brocket deer (Mazama americana) has a wide distribution in Neotropics. In this regard, cytogenetic studies in this species revealed chromosomic variations (cytotypes) which strongly suggest that red brockets can be divided into other species. In the present study, we examined phylogenetic relationships of 19 samples of individuals from different areas of Brazil through mitochondrial (cytochrome b and control region D-loop), nuclear (b-casein, k-casein, and first exon of the IRBP) and SRY gene analysis. The sequence analysis showed that b- and k-caseins as well as SRY nuclear genes were monomorphic, whereas IBRP gene sequencing was not possible. Phylogenetic inferences concerning mitochondrial gene analysis demonstrated two evolutionary lineages, one from Parana River Basin (southeast Brazil) and other from west of Amazon River Basin (northwest Brazil). Moreover, we found correlation between different karyotypes and distinct molecular lineages. / Orientador: José Maurício Barbanti Duarte / Coorientadora: Susana González / Banca: Reinaldo Otávio Alvarenga Alves de Brito / Banca: Cláudia Márcia Aparecida Carareto / Mestre