Genetics and Molecular Biology最新文献

Population epigenetics: Historical notes and applications in human health. 群体表观遗传学：历史笔记及其在人类健康中的应用。

IF 1.3 4区生物学

Genetics and Molecular Biology Pub Date : 2026-05-01 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0203

Sergio Russo Matioli

{"title":"Population epigenetics: Historical notes and applications in human health.","authors":"Sergio Russo Matioli","doi":"10.1590/1678-4685-GMB-2025-0203","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2025-0203","url":null,"abstract":"A key factor contributing to the success of Darwin and Wallace's theory of biological evolution by natural selection was its population-level perspective. This conceptual framework was not immediately adopted, largely due to the enduring intuitive appeal of Lamarckian ideas. The development of genetics during the twentieth century provided compelling evidence that effectively excluded Lamarckian mechanisms from the mainstream understanding of evolutionary processes. Some naturalists, however, proposed mechanisms by which environmental factors could influence genotypes in shaping phenotypes, later attributed to chemical modifications of DNA or chromosomal proteins, among others. The field of population epigenetics emerged with the aim of extending the well-established discipline of population genetics by incorporating such phenomena. This review seeks to provide a historical background on this subject and to examine how advances in both contemporary epigenetics and population epigenetics have been achieved, as well as their implications for the study of human diseases, particularly regarding their contribution to the phenomenon of missing heritability. Because there are major taxonomic differences in the transgenerational inheritance of epigenetic modifications, the potential effects of epigenetic architecture on phenotypes of interest also differ, as in the case of mammals and, in particular, humans.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 2 Suppl 2","pages":"e20250203"},"PeriodicalIF":1.3,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13141671/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147836729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The relationship between proteins of the mismatch repair system and the prognosis of prostate cancer: A systematic review. 错配修复系统蛋白与前列腺癌预后的关系：系统综述。

IF 1.3 4区生物学

Genetics and Molecular Biology Pub Date : 2026-05-01 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0158

Karina Serafim Silva, Maria Clara Del Pintor Pasotti, Luiz Gustavo Neiva Reis Souza, Katia Ramos Moreira Leite, Sabrina T Reis

{"title":"The relationship between proteins of the mismatch repair system and the prognosis of prostate cancer: A systematic review.","authors":"Karina Serafim Silva, Maria Clara Del Pintor Pasotti, Luiz Gustavo Neiva Reis Souza, Katia Ramos Moreira Leite, Sabrina T Reis","doi":"10.1590/1678-4685-GMB-2025-0158","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2025-0158","url":null,"abstract":"Prostate cancer (PCa) is a heterogeneous and prevalent neoplasm, traditionally stratified by PSA and Gleason Score. However, these biomarkers have prognostic limitations, driving the search for new molecular markers. Alterations in DNA mismatch repair (MMR) system proteins are associated with genomic instability, therapeutic resistance, and poorer clinical outcomes. Their relevance in PCa remains poorly understood, highlighting MMR status as a potential prognostic biomarker. This systematic review, following PRISMA 2020 guidelines, evaluated the relationship between MMR protein (MSH2, MSH6, MLH1, PMS2) expression and clinical-pathological outcomes in PCa. Ten studies assessing MMR protein expression in prostate adenocarcinoma samples were included. Risk of bias was assessed using the Newcastle-Ottawa Scale. Studies revealed heterogeneous MMR protein expression. Loss of MSH2 consistently correlated with poorer clinical outcomes, including biochemical recurrence, higher Gleason Scores, and perineural invasion. MSH6 was more prevalent in high-grade tumors, without clear prognostic association. Cytoplasmic MLH1 expression was linked to aggressive histological patterns; PMS2 results were conflicting. Two studies assessed Microsatellite Instability (MSI), correlating with MSH2 and PMS2. Overall, MMR protein alterations, particularly MSH2 loss, may indicate worse PCa prognosis. However, methodological heterogeneity and lack of standardization hinder definitive conclusions. Further studies, integrating MSI analyses are crucial to confirm their prognostic.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 suppl 1","pages":"e20250158"},"PeriodicalIF":1.3,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13140790/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147836578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

All you need is fungi: Exploring secondary metabolites as a source of novel amoebicidal agents. 你所需要的只是真菌：探索次级代谢物作为新型阿米巴杀虫剂的来源。

IF 1.3 4区生物学

Genetics and Molecular Biology Pub Date : 2026-04-27 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0199

Maria Eduarda Deluca João, Deisiane Santos Moura, Alexandra Azevedo Rocha, Matheus Lopes Braga, Henrique R M Antoniolli, Mauren Larangeira Ramos, Sofia Dietrich Loch, Charley Christian Staats

{"title":"All you need is fungi: Exploring secondary metabolites as a source of novel amoebicidal agents.","authors":"Maria Eduarda Deluca João, Deisiane Santos Moura, Alexandra Azevedo Rocha, Matheus Lopes Braga, Henrique R M Antoniolli, Mauren Larangeira Ramos, Sofia Dietrich Loch, Charley Christian Staats","doi":"10.1590/1678-4685-GMB-2025-0199","DOIUrl":"10.1590/1678-4685-GMB-2025-0199","url":null,"abstract":"Free-living amoebae (FLAs) of the genus Acanthamoeba are opportunistic protozoa found in diverse environments. They can cause granulomatous amoebic encephalitis, especially in immunocompromised individuals, and Acanthamoeba keratitis, a painful corneal infection frequently associated with contact lens wearers. Effective treatments for Acanthamoeba infections are limited, with nitroimidazoles as the main pharmacological option, a class of drugs generally associated with side effects. Given the limited availability of vaccines and the low efficacy of existing drugs, the search for new therapeutic strategies is crucial. Interactions between fungi and predatory amoebae have driven the production of defensive fungal secondary metabolites (SMs) with potent amoebicidal properties. The evolutionary pressure from predatory amoebae has equipped fungi, particularly from the Aspergillus, Beauveria, and Fusarium genera, to produce a wide variety of defensive bioactive compounds, including non-ribosomal peptides, polyketides, and terpenes. Some examples of fungal-derived SMs include cephalosporins, mycophenolic acid, griseofulvin, pleuromutilins and lovastatin. Furthermore, gliotoxin and trypacidin from Aspergillus fumigatus exhibit amoebicidal activity by impairing key protozoan functions like phagocytosis. These findings highlight the potential of fungal SMs as novel amoebicidal agents. Exploring fungal biodiversity could lead to the discovery of innovative medicines, harnessing natural compounds to combat infections caused by Acanthamoeba species and other protozoan pathogens.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 1 Suppl 1","pages":"e20250199"},"PeriodicalIF":1.3,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13126256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147768756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Using molecular taxonomy to identify Scinax (Anura: Hylidae): New distribution records and implications for Neotropical biodiversity. 用分子分类学鉴定海螺科（无尾目：海螺科）：新分布记录及其对新热带生物多样性的启示。

IF 1.3 4区生物学

Genetics and Molecular Biology Pub Date : 2026-04-20 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0053

Lidia Nogueira, Reydson Reis, Paulo Roberto Antunes de Mello Affonso, Christine Strussmann, Iracilda Sampaio

{"title":"Using molecular taxonomy to identify Scinax (Anura: Hylidae): New distribution records and implications for Neotropical biodiversity.","authors":"Lidia Nogueira, Reydson Reis, Paulo Roberto Antunes de Mello Affonso, Christine Strussmann, Iracilda Sampaio","doi":"10.1590/1678-4685-GMB-2025-0053","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2025-0053","url":null,"abstract":"Traditional morphological identification is challenging in large and diverse groups, such as the genus Scinax, which comprises about 78 species, and molecular taxonomy emerges as an efficient tool for species delimitation. We generated 164 new mitochondrial 16S rRNA sequences from Scinax individuals collected in north and central-west Brazil, covering the Amazon biome, Amazon-Cerrado transition zones, and the Pantanal. After comparison with all sequences available in GenBank, 22 references representing the closest lineages were selected for detailed analyses. These were examined through phylogenetic inferences, genetic distances, and species delimitation methods (ASAP, ABGD, GMYC, bPTP). The analyses confirmed the genetic identity of individuals belonging to Scinax acuminatus, S. boesemani, S. fuscomarginatus, S. fuscovarius, S. jolyi, S. madeirae, S. nasicus, S. nebulosus, S. proboscideus, S. similis, Scinax sp. 1, sp. 2, sp. 5, sp. 7, sp. 22, and sp. 27. This study also expanded the distribution of eight species, including described and undescribed taxa (S. jolyi, S. proboscideus, S. similis, Scinax sp. 2, Scinax sp. 5, Scinax sp. 7, Scinax sp. 21 and Scinax sp. 27), highlighting the importance of molecular approaches for clarifying biogeographic patterns. Our results reinforce the effectiveness of molecular taxonomy for Scinax identification and contribute to refining genus diversity knowledge, reducing distributional gaps in Neotropical amphibians.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 1","pages":"e20250053"},"PeriodicalIF":1.3,"publicationDate":"2026-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13131051/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147813662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Erratum: The inhibition of Beclin1-dependent autophagy sensitizes PTC cells to ABT737-induced death. 对beclin1依赖性自噬的抑制使PTC细胞对abt737诱导的死亡敏感。

IF 1.3 4区生物学

Genetics and Molecular Biology Pub Date : 2026-04-20 DOI: 10.1590/1678-4685-GMB-2022-0170er

引用次数: 0

Mitogenomic sequencing of the Brazilian Mastiff and Brazilian Terrier suggests a complex scenario of breed formation for two established Brazilian dog breeds. 巴西獒犬和巴西梗犬的有丝分裂基因组测序表明，两种已建立的巴西犬种的品种形成具有复杂的情况。

IF 1.3 4区生物学

Genetics and Molecular Biology Pub Date : 2026-04-17 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0149

Thaís Fontenelle, Pedro Côrtes, Carolina Furtado, Francisco Prosdocimi

{"title":"Mitogenomic sequencing of the Brazilian Mastiff and Brazilian Terrier suggests a complex scenario of breed formation for two established Brazilian dog breeds.","authors":"Thaís Fontenelle, Pedro Côrtes, Carolina Furtado, Francisco Prosdocimi","doi":"10.1590/1678-4685-GMB-2025-0149","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2025-0149","url":null,"abstract":"Brazil has two dog breeds recognized by the Fédération Cynologique Internationale: the Brazilian Terrier and the Brazilian Mastiff. The Brazilian Terrier is believed to descend from Jack Russell Terriers crossed with local strays and possibly Pinschers, while the Brazilian Mastiff is thought to have originated from crosses involving English Mastiffs, Bloodhounds, and English Bulldogs. Here, we partially sequenced the genomes of one pedigree-certified individual from each breed using Illumina HiSeq. We assembled and annotated their complete mitochondrial genomes and performed comparative phylogenomic analyses. The Brazilian Terrier showed the highest mitogenomic similarity to the Australian Shepherd, Miniature Dachshund, Rottweiler, Cairn Terrier, and Shetland Sheepdog. For the Brazilian Mastiff, the closest matches included the Schipperke, Walker Hound, Tibetan Spaniel, Bolognese, and Great Pyrenees. Analysis of the mitochondrial D-loop region confirmed these results with minor variations. Additionally, we analyzed a partial sequence of the MLPH gene in the Brazilian Terrier to document genetic variants associated with coat color dilution. Altogether, our findings indicate that the genetic origins of both Brazilian breeds are more complex than traditionally assumed. Future studies with broader sampling and nuclear sequencing will be essential to deepen our understanding of their ancestry and evolutionary relationships.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 1","pages":"e20250149"},"PeriodicalIF":1.3,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13123249/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147768817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Dysregulation of myddosome complex genes its related to alendronate treatment failure in osteoporosis postmenopausal patients. 绝经后骨质疏松症患者阿仑膦酸钠治疗失败与髓体复合体基因失调有关。

IF 1.3 4区生物学

Genetics and Molecular Biology Pub Date : 2026-04-17 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0070

Bianca Maria Ribeiro de Oliveira, Maria Julia Alves de Melo, Werbson Lima Guaraná, Camilla Albertina Dantas de Lima, Alexandre Domingues Barbosa, Paula Sandrin-Garcia

{"title":"Dysregulation of myddosome complex genes its related to alendronate treatment failure in osteoporosis postmenopausal patients.","authors":"Bianca Maria Ribeiro de Oliveira, Maria Julia Alves de Melo, Werbson Lima Guaraná, Camilla Albertina Dantas de Lima, Alexandre Domingues Barbosa, Paula Sandrin-Garcia","doi":"10.1590/1678-4685-GMB-2025-0070","DOIUrl":"10.1590/1678-4685-GMB-2025-0070","url":null,"abstract":"Some patients with osteoporosis (OP) do not respond to treatment with bisphosphonates; pathways that stimulate osteoclatogenesis may be involved in this failure, such as the myddosome pathway. A total of 40 OP patients and 20 controls were included in the group study. Patients treated with sodium alendronate (SA) for two years were classified according to bone mineral density (BMD) variations of the lumbar spine, femoral neck, and total hip, measured by the method of dual-energy x-ray absorptiometry (DXA) as responsive patients (OP-R) (n = 20) and non-responders (OP-NR) (n = 20), to evaluate the impact of the myddosome pathway gene expression profile in postmenopausal women with OP. The gene expressions were measured through real-time relative quantitative PCR with Taqman® probes; relative quantification was normalized to GAPDH and RPLP0 reference genes. Non-responders showed increased expression levels of MYD88 and IRAK3 compared to responders Fold change (FC) = 2.86±1.54, p=0.0002 e FC= 3.62±0.46, p<0.0001 respectively. Our results demonstrate the influence of the myddosome on OP maintenance and response to sodium alendronate (SA) treatment, highlighting the importance of this pathway as a potential target for new therapeutic approaches in postmenopausal OP.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 1","pages":"e20250070"},"PeriodicalIF":1.3,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13089950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147716425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Conserved gene clusters in entomopathogenic filamentous fungi. 昆虫病原丝状真菌中的保守基因簇。

IF 1.3 4区生物学

Genetics and Molecular Biology Pub Date : 2026-04-17 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0168

Alexandra de Azevedo da Rocha, Charley Christian Staats

{"title":"Conserved gene clusters in entomopathogenic filamentous fungi.","authors":"Alexandra de Azevedo da Rocha, Charley Christian Staats","doi":"10.1590/1678-4685-GMB-2025-0168","DOIUrl":"https://doi.org/10.1590/1678-4685-GMB-2025-0168","url":null,"abstract":"Entomopathogenic filamentous fungi from the Order Hypocreales are studied for biological pest control due to their ability to infect arthropods. Their biotechnological potential lies in the production of secondary metabolites (SMs), encoded by biosynthetic gene clusters (BGCs), which are crucial for the fungal life cycle and infection. Due to the different roles played by SMs in fungi, the in-depth study of these molecules has increased over the last years. Considering the proven biotechnological importance of species of the genus Beauveria have already shown, we performed an in-silico analysis of BGCs of the species from the order Hypocreales to uncover potential conserved pathways and find new candidates for biological pest control. A total of 295 genome sequences were analyzed using antiSMASH, allowing the identification of 12,968 BGCs. Conservation analysis was performed using BiG-SCAPE, which could group these BGCs into 2,127 biosynthetic gene families. Despite the presence of conserved gene clusters, especially within the same genus, when the comparison of BGCs was performed within the order, a large part of them is orphaned, highlighting the great diversity of BGCs and consequently the chemodiversity of fungal species. Our approach helps to uncover new molecules that may provide new biotechnological tools.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49 1","pages":"e20250168"},"PeriodicalIF":1.3,"publicationDate":"2026-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13123250/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147768805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Therapeutic potential of Brazilian medicinal plants and their metabolites. 巴西药用植物及其代谢产物的治疗潜力。

IF 1.3 4区生物学

Genetics and Molecular Biology Pub Date : 2026-04-10 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0222

Juliana Mara Serpeloni, Fabio Vieira Dos Santos, Katiuska Tuttis, Ilce Mara de Syllos Cólus

{"title":"Therapeutic potential of Brazilian medicinal plants and their metabolites.","authors":"Juliana Mara Serpeloni, Fabio Vieira Dos Santos, Katiuska Tuttis, Ilce Mara de Syllos Cólus","doi":"10.1590/1678-4685-GMB-2025-0222","DOIUrl":"10.1590/1678-4685-GMB-2025-0222","url":null,"abstract":"Exploring natural products is essential for identifying new bioactive substances with unique molecular structures and mechanisms of action. Successful experiences in identifying and developing chemotherapeutic agents from plant-derived sources have inspired the search for new strategies and alternative treatments for various diseases. Today, more than half of the anticancer drugs in clinical use are derived, directly or indirectly, from natural products. In this review, we present findings from studies on medicinal plants conducted at the Laboratory of Mutagenesis and Oncogenetics, in collaboration with other research groups from the Program Biota/FAPESP, aimed at evaluating their safety for widespread use. Our research team has conducted extensive studies over approximately 25 years, assessing 65 crude plant extracts from 31 species and 8 isolated phytochemicals. Most of these species belong to the Melastomataceae family, followed by the Malpighiaceae family. Among the phytochemicals, flavonoids, diterpenes, indolinones, and alkaloids are the most common. In this comprehensive review, we examine the biological effects identified and their potential therapeutic applications, particularly in the context of anticancer strategies. Our goal is to highlight the pharmacological potential of compounds derived from these plants, thereby supporting the development of drugs that can be effectively utilized in clinical practice.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 1 Suppl 1","pages":"e20250222"},"PeriodicalIF":1.3,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13072110/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147672191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic insights into the peoples who shaped the American continent. 对塑造美洲大陆的民族的基因研究。

IF 1.3 4区生物学

Genetics and Molecular Biology Pub Date : 2026-04-03 eCollection Date: 2026-01-01 DOI: 10.1590/1678-4685-GMB-2025-0244

Gustavo Medina Tavares, Bruna Oliveira Missaggia, Thaynara Lima, Mariana Marcano-Ruiz, Maria Thereza Schmitt Mesquita, Guilherme Baldo, Márcio Dorn, Tábita Hünemeier, Maria Cátira Bortolini

{"title":"Genetic insights into the peoples who shaped the American continent.","authors":"Gustavo Medina Tavares, Bruna Oliveira Missaggia, Thaynara Lima, Mariana Marcano-Ruiz, Maria Thereza Schmitt Mesquita, Guilherme Baldo, Márcio Dorn, Tábita Hünemeier, Maria Cátira Bortolini","doi":"10.1590/1678-4685-GMB-2025-0244","DOIUrl":"10.1590/1678-4685-GMB-2025-0244","url":null,"abstract":"The initial peopling of America left a deep genetic legacy in Indigenous peoples and their admixed descendants. This narrative review recenters studies involving Indigenous populations and, inspired by the work of Francisco M. Salzano and Darcy Ribeiro's historical and cultural framework, adopts the working notions of \"witness,\" \"introduced,\" \"transplanted,\" and \"new\" genetic signatures. We first clarify terminology to avoid neocolonial bias, using America to denote the continent and Native American to refer to all Indigenous peoples of America, and then synthesize the literature on initial peopling, post-contact demography, and natural selection, with particular emphasis on Brazil. We also present an illustrative example drawn from ongoing research conducted by our group, using genome editing to investigate a candidate adaptive allele in the context of high-altitude adaptation. Finally, we connect evolutionary history to contemporary health, highlighting mitonuclear interactions, dietary transitions, and pathogen exposures that may modulate disease risk, with implications for precision public health. Collectively, this review showcases ancestry-aware approaches tailored to Native American contexts and demonstrates why models developed elsewhere should not be uncritically extrapolated to America, advancing a continent-wide, Brazil-anchored perspective on Indigenous resilience and scientific significance.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"49Suppl 1 Suppl 1","pages":"e20250244"},"PeriodicalIF":1.3,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13063108/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147627547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0