Navegando por Autor "Assumpção, Paulo Pimentel"
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Artigo Epidemiological-molecular profile of variants associated with type 2 diabetes mellitus in indigenous populations from the Brazilian Amazon(Elsevier BV, 2023-03) Monte, Natasha; Rodrigues, Juliana Carla Gomes; Vinagre, Lui Wallacy Morikawa Souza; Pastana, Lucas Favacho; Alcântara, Angélica Leite de; Leitão, Luciana Pereira Colares; Santos, André Maurício Ribeiro dos; Fernandes, Marianne Rodrigues; Santos, Andrea Kely Campos Ribeiro dos; Guerreiro, João Farias; Assumpção, Paulo Pimentel; Santos, Sidney; Souza, Sandro José de; Santos, Ney Pereira Carneiro dosAims: While lifestyle factors are strongly associated with Type 2 diabetes (T2DM), genetic characteristics also play a role. However, much of the research on T2DM genetics focuses on European and Asian populations, leaving underrepresented groups, such as indigenous populations with high diabetes prevalence, understudied. Methods: We characterized the molecular profile of 10 genes involved in T2DM risk through complete exome sequencing of 64 indigenous individuals belonging to 12 different Amazonian ethnic groups. Results: The analysis revealed 157 variants, including four exclusive variants in the indigenous population located in the NOTCH2 and WFS1 genes with a modifier or moderate impact on protein effectiveness. Furthermore, a high impact variant in NOTCH2 was also found. Additionally, the frequency of 10 variants in the indigenous group showed significant differences when compared to other global populations that were evaluated. Conclusion: Our study identified 4 novel variants associated with T2DM in the NOTCH2 and WFS1 genes in the Amazonian indigenous populations we studied. In addition, a variant with a high predicted impact in NOTCH2 was also observed. These findings represent a valuable starting point for conducting further association and functional studies, which could help to improve our understanding of the unique characteristics of this populationArtigo Whole genome sequencing of the Pirarucu (Arapaima gigas) supports independent emergence of major teleost clades(2018-07-05) Vialle, Ricardo Assunção; Souza, Jorge Estefano Santana de; Lopes, Katia de Paiva; Teixeira, Diego Gomes; Alves Sobrinho, Pitágoras de Azevedo; Ribeiro-dos-Santos, André M.; Furtado, Carolina; Sakamoto, Tetsu; Silva, Fábio Augusto Oliveira; Oliveira, Edivaldo Herculano Corrêa de; Hamoy, Igor Guerreiro; Assumpção, Paulo Pimentel; Ribeiro-dos-Santos, Ândrea; Lima, João Paulo Matos Santos; Seuánez, Héctor N.; Souza, Sandro José de; Santos, SidneyThe Pirarucu (Arapaima gigas) is one of the world's largest freshwater fishes and member of the superorder Osteoglossomorpha (bonytongues), one of the oldest lineages of ray-finned fishes. This species is an obligate air-breather found in the basin of the Amazon River with an attractive potential for aquaculture. Its phylogenetic position among bony fishes makes the Pirarucu a relevant subject for evolutionary studies of early teleost diversification. Here, we present, for the first time, a draft genome version of the A. gigas genome, providing useful information for further functional and evolutionary studies. The A. gigas genome was assembled with 103 Gb raw reads sequenced in an Illumina platform. The final draft genome assembly was approximately 661 Mb, with a contig N50 equal to 51.23 kb and scaffold N50 of 668 kb. Repeat sequences accounted for 21.69% of the whole genome, and a total of 24,655 protein-coding genes were predicted from the genome assembly, with an average of 9 exons per gene. Phylogenomic analysis based on 24 fish species supported the postulation that Osteoglossomorpha and Elopomorpha (eels, tarpons and bonefishes) are sister groups, both forming a sister lineage with respect to Clupeocephala (remaining teleosts). Divergence time estimations suggested that Osteoglossomorpha and Elopomorpha lineages emerged independently in a period of approximately 30 million years in the Jurassic. The draft genome of A. gigas provides a valuable genetic resource for further investigations of evolutionary studies and may also offer a valuable data for economic applications.