Navegando por Autor "Vinasco-Sandoval, Tatiana"
Agora exibindo 1 - 2 de 2
- Resultados por página
- Opções de Ordenação
Artigo Exome sequencing of native populations from the Amazon reveals patterns on the peopling of South America(Frontiers Media SA, 2020-10-29) Ribeiro-dos-Santos, André M.; Vidal, Amanda Ferreira; Vinasco-Sandoval, Tatiana; Guerreiro, João; Santos, Sidney; Ribeiro-dos-Santos, Ândrea; Souza, Sandro José deStudies on the peopling of South America have been limited by the paucity of sequence data from Native Americans, especially from the east part of the Amazon region. Here, we investigate the whole exome variation from 58 Native American individuals (eight different populations) from the Amazon region and draw insights into the peopling of South America. By using the sequence data generated here together with data from the public domain, we confirmed a strong genetic distinction between Andean and Amazonian populations. By testing distinct demographic models, our analysis supports a scenario of South America occupation that involves migrations along the Pacific and Atlantic coasts. Occupation of the southeast part of South America would involve migrations from the north, rather than from the west of the continentArtigo Identification of NUDT15 gene variants in Amazonian Amerindians and admixed individuals from northern Brazil(2020-04-15) Rodrigues, Juliana Carla Gomes; Souza, Tatiane Piedade de; Pastana, Lucas Favacho; Santos, André Maurício Ribeiro dos; Fernandes, Marianne Rodrigues; Pinto, Pablo; Wanderley, Alayde Vieira; Souza, Sandro José de; Kroll, José Eduardo; Pereira, Adenilson Leão; Magalhães, Leandro; Mercês, Laís Reis das; Vidal, Amanda Ferreira; Vinasco-Sandoval, Tatiana; Cavalcante, Giovanna Chaves; Guerreiro, João Farias; Assumpção, Paulo Pimentel de; Ribeiro-dos-Santos, Ândrea; Santos, Sidney; Santos, Ney Pereira Carneiro dosIntroduction The nudix hydrolase 15 (NUDT15) gene acts in the metabolism of thiopurine, by catabolizing its active metabolite thioguanosine triphosphate into its inactivated form, thioguanosine monophosphate. The frequency of alternative NUDT15 alleles, in particular those that cause a drastic loss of gene function, varies widely among geographically distinct populations. In the general population of northern Brazilian, high toxicity rates (65%) have been recorded in patients treated with the standard protocol for acute lymphoblastic leukemia, which involves thiopurine-based drugs. The present study characterized the molecular profile of the coding region of the NUDT15 gene in two groups, non-admixed Amerindians and admixed individuals from the Amazon region of northern Brazil. Methods The entire NUDT15 gene was sequenced in 64 Amerindians from 12 Amazonian groups and 82 admixed individuals from northern Brazil. The DNA was extracted using phenol-chloroform. The exome libraries were prepared using the Nextera Rapid Capture Exome (Illumina) and SureSelect Human All Exon V6 (Agilent) kits. The allelic variants were annotated in the ViVa® (Viewer of Variants) software. Results Four NUDT15 variants were identified: rs374594155, rs1272632214, rs147390019, andrs116855232. The variants rs1272632214 and rs116855232 were in complete linkage disequilibrium, and were assigned to the NUDT15*2 genotype. These variants had high frequencies in both our study populations in comparison with other populations catalogued in the 1000 Genomes database. We also identified the NUDT15*4 haplotype in our study populations, at frequencies similar to those reported in other populations from around the world. Conclusion Our findings indicate that Amerindian and admixed populations from northern Brazil have high frequencies of the NUDT15 haplotypes that alter the metabolism profile of thiopurines.