de Souza Felipe Gouvea, Matos Gustavo Barra, Sena Santos Camille, Souza Tatiane Piedade, Gobbo Angélica Rita, da Costa Patrícia Fagundes, Salgado Claudio Guedes, Lopes Eufraseo Gracivane, Vitor de Souza Fernandes André, Santos-Lobato Bruno Lopes, Santos Sidney, C Cavalcante Giovanna, M Ribeiro Dos Santos André, de Araújo Gilderlanio S, Ribeiro-Dos-Santos Ândrea
Laboratory of Human and Medical Genetics (LGHM), Institute of Biological Sciences, Federal University of Pará (UFPA), Belém, PA, Brazil.
Laboratory of Dermato-Immunology (LDI), Institute of Biological Sciences, Federal University of Pará (UFPA), Marituba, PA, Brazil.
Commun Biol. 2025 May 30;8(1):835. doi: 10.1038/s42003-025-08126-4.
Mitochondrial genome is an essential resource to investigate the dispersion and diversification of human populations. However, the lack of genomic data from non-European ancestry hinders demographic, anthropologic and genetic studies. Indigenous people from the Brazilian Amazon are especially underrepresented among large genetic datasets, despite their significative contribution to the Brazilian genetic pool. We investigated 157 mitochondrial genomes from the Brazilian Amazon using bioinformatics tools for ancestry inference and phylogenetics. Results were compared with 2578 global mitogenomes to assess haplogroup frequencies and genetic distances. Thirteen macrohaplogroups were identified from investigated samples, including Indigenous, European and African ancestries. Despite being prominent in our sample, Indigenous haplogroup assignment confidence by prediction tools was lower and many samples lacked key-defining variants, suggesting misassignment due to low representation in reference datasets. We also identified potential new groups sharing specific variants. Thus, underrepresentation of Indigenous haplogroups contributes to phylogenetic inconsistencies and needs future investigations.
线粒体基因组是研究人类群体扩散和多样化的重要资源。然而，缺乏非欧洲血统的基因组数据阻碍了人口统计学、人类学和遗传学研究。尽管巴西亚马逊地区的原住民对巴西基因库有重要贡献，但在大型遗传数据集中，他们的代表性尤其不足。我们使用生物信息学工具对来自巴西亚马逊地区的157个线粒体基因组进行了祖先推断和系统发育研究。将结果与2578个全球线粒体基因组进行比较，以评估单倍群频率和遗传距离。从所研究的样本中鉴定出13个大的单倍群，包括原住民、欧洲和非洲血统。尽管在我们的样本中很突出，但预测工具对原住民单倍群的分类置信度较低，许多样本缺乏关键定义变体，这表明由于参考数据集中代表性不足而导致分类错误。我们还发现了共享特定变体的潜在新群体。因此，原住民单倍群代表性不足导致了系统发育的不一致，需要未来进一步研究。
