Rafael Bisso-Machado

Universidade Federal do Rio Grande do Sul | UFRGS · Departamento de Genética

A comprehensive review of uniparental systems in South Amerindians was undertaken. Variability in the Y-chromosome haplogroups were assessed in 68 populations and 1,814 individuals whereas that of Y-STR markers was assessed in 29 populations and 590 subjects. Variability in the mitochondrial DNA (mtDNA) haplogroup was examined in 108 populations an...

Native Americans are characterized by specific and unique patterns of genetic and cultural/linguistic diversities, and this information has been used to understand patterns of geographic dispersion, and the relationship between these peoples. Particularly interesting are the Tupi and Je speaker dispersions. At present, a large number of individuals...

This chapter summarizes the arrival and colonization of Homo sapiens into the Americas. Knowledge for this theme comes from several areas, even though this review focuses on the genetics data. After its emergence in Africa between 200 and 300 kya (thousands of years ago), modern Homo sapiens migrated out of Africa 140–152 kya, hybridizing and admix...

Objectives The aim of this study was to create a comprehensive summary of available mtDNA and Y-chromosome data for Native Americans from North, Central, and South America, including both modern and ancient DNA. To illustrate the usefulness of this dataset we present a broad picture of the genetic variation for both markers across the Americas. Me...

"Junk DNA" is a popular yet controversial concept that states that organisms carry in their genomes DNA that has no positive impact on their fitness. Nonetheless, biochemical functions have been identified for an increasing fraction of DNA elements traditionally seen as "Junk DNA". These findings have been interpreted as fundamentally undermining t...

Human Leukocyte Antigen (HLA)-G participates in several biological processes, including reproduction, vascular remodeling, immune tolerance, and hypoxia response. HLA-G is a potential candidate gene for high altitude adaptation since its expression is modulated in both micro and macro environment under hypoxia and constant cellular stress. Besides...

Brazil is the fifth largest country in the world in area and the fifth most populous. The Brazilian voluntary Bone Marrow Donor Registry is the third largest in terms of number of donors in the world, being a valuable source of HLA genetics to characterize the donor population of Brazil as well. The genetic background of the Brazilian population is...

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia and epilepsy. The disease is caused by a pentanucleotide ATTCT expansion in intron 9 of the ATXN10 gene on chromosome 22q13.3. SCA10 has shown a geographical distribution throughout America with a likely degree o...

Objectives: To determine genetic differences between agriculturalist and hunter-gatherer southern Native American populations for selected metabolism-related markers and to test whether Neel's thrifty genotype hypothesis (TGH) could explain the genetic patterns observed in these populations. Materials and methods: 375 Native South American indiv...

Neste capítulo resume-se a dispersão do Homo sapiens, desde seu surgimento na África até o povoamento do continente americano. A busca pelo esclarecimento sobre tão instigante temática advém de várias áreas do conhecimento: arqueologia, paleoantropologia, geoclimatologia, linguística e genética, disciplina que foi particularmente revisada aqui. Nos...

Poster presented at the 62nd International-Brazilian Congress of Genetics

En este capítulo se resume la dispersión del Homo sapiens, desde su surgimiento en África hasta el poblamiento del continente americano. La búsqueda por comprender tan interesante temática atraviesa varias áreas de conocimiento: arqueología, paleoantropología, geo-climatología, lingüística y genética, disciplina que fue particularmente revisada aqu...

N-acetyltransferase 2 (NAT2) is responsible for metabolizing xenobiotics; NAT2 polymorphisms lead to three phenotypes: rapid, intermediate and slow acetylators. We aimed to investigate NAT2 diversity in Native Americans. NAT2 exon 2 was sequenced for 286 individuals from 21 populations (Native American and American Mestizos). Excluding the basal/ra...

N-acetyltransferase 2 (NAT2) is responsible for metabolizing xenobiotics; NAT2 polymorphisms lead to three phenotypes: rapid, intermediate and slow acetylators. We aimed to investigate NAT2 diversity in Native Americans. NAT2 exon 2 was sequenced for 286 individuals from 21 populations (Native American and American Mestizos). Excluding the basal/ra...

The diversity of the five single nucleotide polymorphisms located in genes of the TP53 pathway (TP53, rs1042522; MDM2, rs2279744; MDM4, rs1563828; USP7, rs1529916; and LIF, rs929271) were studied in a total of 282 individuals belonging to Quechua, Aymara, Chivay, Cabanaconde, Yanke, Taquile, Amantani, Anapia, Uros, Guarani Ñandeva, and Guarani Kaio...

Poster presented at the Evolution 2015 Congress

As the 5-HTTLPR polymorphism was identified, about 20 years ago, it has been one of the most extensively investigated polymorphisms in neuropsychiatric disorders. Between only 2012 and 2014, 221 studies were published addressing the association between 5-HTTLPR polymorphism and a wide range of different phenotypes, including neuropsychiatric disord...

Migrações, mudanças de hábitos e de práticas culturais representam importantes fontes de recente e inédita pressão seletiva na história evolutiva do Homo sapiens moderno. Desse modo, a coevolução entre ge-nes e cultura se mostra como um fenômeno particularmente importante para a nossa espécie. Dificil-mente o ser humano teria conseguido colonizar a...

On studying the Native American peoples, by analogy, the modern Homo sapiens evolutive trajectory can be inferred, having it lived and survived the most part of its existence as species hunting and collecting. Examples of how investigation of Native American populations can enrich our knowledge about the evolutive history of our species will be see...

The relationship between the "individualism-collectivism" and the serotonin trans-porter functional polymorphism (5-HTTLPR), suggested in the previous reports, was tested in Native South Amerindian populations. A total of 170 individuals from 21 populations were genotyped for the 5-HTTLPR alleles. For comparative purposes, these populations were cl...

The relationship between the evolution of genes and languages has been studied for over three decades. These studies rely on the assumption that languages, as many other cultural traits, evolve in a gene-like manner, accumulating heritable diversity through time and being subjected to evolutionary mechanisms of change. In the present work we used g...

Classification of the five languages considered in this study. When available, the date of origin of the language is given in parenthesis. (DOCX)

Identification numbers of the 381 STR used in our analyses. (DOCX)

Concurrent evolution of genes and languages has been studied for over three decades. These studies rely on the assumption that languages, as many other cultural traits, evolve in a gene-like manner, accumulating heritable diversity through time and being subjected to evolutionary mechanisms of diversity maintenance. In the present work we use genet...

The human Y chromosome contains highly informative markers for making historical inferences about the pre-Columbian peopling of Americas. However, the scarcity of these markers has limited its use in the inference of shared ancestry and past migrations relevant to the origin of the culturally and biologically diverse Native Americans. To identify n...

This investigation was performed to identify and evaluate the distribution of all 15 Y-chromosome lineages belonging to the Q clade in a sample of natives from South America. One hundred and forty-eight individuals from 20 Native American populations, as well as 24 Asian samples including Eskimos, were tested with 18 biallelic loci that can identif...

This work has as its main aim to elucidate some of the still open questions about the evolutive and anthropological history of the Native American populations. Paternal uniparental markers, in the NRY, and maternal, mtDNA, were investigated to do that. For the Y chromosome, 108 individuals were investigated (85 South-Amerindians from 16 tribes, bel...

Two hundred and three individuals classified as white were tested for 11 single nucleotide polymorphisms plus two insertion/deletions in their Y-chromosomes. A subset of these individuals (n = 172) was also screened for sequences in the first hypervariable segment of their mitochondrial DNA (mtDNA). In addition, complementary studies were done for...