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Mitochondrial DNA Analysis Reveals Substantial Native American Ancestry in Puerto Rico

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Abstract

To estimate the maternal contribution of Native Americans to the human gene pool of Puerto Ricans--a population of mixed African, European, and Amerindian ancestry--the mtDNAs of two sample sets were screened for restriction fragment length polymorphisms (RFLPs) defining the four major Native American haplogroups. The sample set collected from people who claimed to have a maternal ancestor with Native American physiognomic traits had a statistically significant higher frequency of Native American mtDNAs (69.6%) than did the unbiased sample set (52.6%). This higher frequency suggests that, despite the fact that the native Taíno culture has been extinct for centuries, the Taíno contribution to the current population is considerable and some of the Taíno physiognomic traits are still present. Native American haplogroup frequency analysis shows a highly structured distribution, suggesting that the contribution of Native Americans foreign to Puerto Rico is minimal. Haplogroups A and C cover 56.0% and 35.6% of the Native American mtDNAs, respectively. No haplogroup D mtDNAs were found. Most of the linguistic, biological, and cultural evidence suggests that the Ceramic culture of the Taínos originated in or close to the Yanomama territory in the Amazon. However, the absence of haplogroup A in the Yanomami suggests that the Yanomami are not the only Taíno ancestors.
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Mitochondrial DNA analysis reveals substanial Native American ancestry in Pue...
J C Martinez-Cruzado; G Toro-Labrador; V Ho-Fung; M A Estevez-Montero; et al
Human Biology; Aug 2001; 73, 4; ProQuest Medical Library
pg. 491
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... The first and perhaps most common critique is the claim that Taíno people are extinct, a narrative that has been prevalent for centuries, despite the contradictory reports about the persistence of Taíno communities (Baralt, 2007;Casas & Griffin, 1992;Castanha, 2011;Feliciano-Santos, 2021;Pané, 1999) . Debates to prove the continuation of our people, given the intense doubt of our claims to community and genealogy, often rely on DNA tests that estimate the percentage of "Taíno blood" (Castanha, 2011;Martinez-Cruzado et al., 2001) . However, in attempting to disprove the notion of Taíno extinction, these debates often devolve to colonial race-biology logics of DNA tests, blood quantum, and using biological metrics to measure how much Indigenous someone is (Fields & Fields, 2014;Martinez-Cruzado et al., 2001;TallBear, 2013) . ...
... Debates to prove the continuation of our people, given the intense doubt of our claims to community and genealogy, often rely on DNA tests that estimate the percentage of "Taíno blood" (Castanha, 2011;Martinez-Cruzado et al., 2001) . However, in attempting to disprove the notion of Taíno extinction, these debates often devolve to colonial race-biology logics of DNA tests, blood quantum, and using biological metrics to measure how much Indigenous someone is (Fields & Fields, 2014;Martinez-Cruzado et al., 2001;TallBear, 2013) . Such logics have no true grounding in biology itself and are also incongruent with Indigenous -and, in this case, Taíno -understandings of genealogy, cultural inheritance, and community (Barker, 2011(Barker, , 2017Castanha, 2011;Feliciano-Santos, 2021;Fields & Fields, 2014;TallBear, 2013) . ...
Thesis
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Puerto Rico’s food systems are dangerously precarious, with the islands importing about 90% of its food, a consequence of five centuries of colonialism prioritizing foreign profit over local welfare. Particularly in the aftermath of Hurricane Maria, though, there has been a swelling movement towards food sovereignty on the islands, often aligned with overlapping movements towards the resurgence of Taíno identity and culture. Bringing these movements together, this dissertation focuses on Taíno social-environmental systems, using the recorded Taíno language as the primary vantage point in order to understand the dynamics of pre-colonial social-environmental systems on the islands, the cultures that shaped such systems, and how that can guide us to food and material sovereignty on the islands. This dissertation is grounded in a decolonial research methodology, which I develop and provide as a generalized framework such that other researchers can make use of it as well. Delving into Taíno ecolinguistic ontologies – or the worldviews and relations revealed by the nexus between language and the environment – demonstrates a high degree of naming multiplicity in the Taíno lexicon, particularly for plants and animals with which there was greater intimacy in Taíno cultures. Additionally, redundancy was a prominent feature in pre-colonial Taíno bicultural systems, contributing to socioecological resilience, although there were several categories, especially related to spiritual functions, for which certain biota are simply irreplaceable. Although there are numerous critical barriers obstructing food and material sovereignty for Puerto Rico, the lessons gleaned from Taíno culture, particularly Taíno ecolinguistic ontologies and pre-colonial social-environmental systems, indicate several promising opportunities for cultivating sovereignty: research towards decolonization, mass (re)education, land reclamation, land cultivation & restoration, establishing constellations of care, and building a Pan-Caribbean coalition.
... F I G U R E 2 Timeline of major events in Caribbean history described in the main text Studies carried out in the early to mid-2000s characterized the genetic diversity of Caribbean islanders using JC virus strains (Human polyomavirus 2), uniparental loci (mitochondrial DNA and Y-chromosome), and small panels of autosomal markers. [37][38][39][40][41] This body of work found that contemporary islanders carry varying proportions of admixture from Indigenous American, European, African, and to a lesser degree, East and South Asian ancestors. In addition to characterizing broad patterns of global admixture, these studies were the first to suggest that Indigenous American ancestry among present-day islanders stemmed primarily from precontact Indigenous Caribbean populations. ...
... In addition to characterizing broad patterns of global admixture, these studies were the first to suggest that Indigenous American ancestry among present-day islanders stemmed primarily from precontact Indigenous Caribbean populations. 37 This early research and subsequent follow-ups with larger sample sizes, denser geographic, and genomic coverage 9,11,[42][43][44][45][46][47][48][49][50] argued that contemporary islanders are a reservoir of precontact genetic variation and a source of information for reconstructing precontact Caribbean population history. ...
Article
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As the last American region settled by humans, yet the first to experience European colonization, the Caribbean islands have a complex history characterized by continuous migration, admixture, and demographic change. In the last 20 years, genetics research has transformed our understanding of Caribbean population history and revisited major debates in Caribbean anthropology, such as those surrounding the first peopling of the Antilles and the relationship between ancient Indigenous communities and present‐day islanders. Genetics studies have also contributed novel perspectives for understanding pivotal events in Caribbean post‐contact history such as European colonization, the Atlantic Slave Trade, and the Asian Indenture system. Here, I discuss the last 20 years of Caribbean genetics research and emphasize the importance of integrating genetics with interdisciplinary historic, archaeological, and anthropological approaches. Such interdisciplinary research is essential for investigating the dynamic history of the Caribbean and characterizing its impact on the biocultural diversity of present‐day Caribbean peoples.
... These findings contrast the original hypothesis suggested by Leigh et al., who attributed the origin of the founder mutation to the Taino ancestry due to the presumable prevalence of recessive conditions maternally inherited through mitochondrial genes and favored by the island's geographically isolation [7,12]. Future research could consider the analysis of this dataset with an additional range of chromosomal segments to further explore the origin of the RSPH4A [c.921+3_6delAAGT] splice site mutation, the actual prevalence of the condition on the island, and the applicability of the approaches used to date. ...
... The average Puerto Rican genetic composition includes 64% European, 21% African, and 15% Native-American or Taino ancestral genes [11]. Due to the endemicity of the mutation and the relatively elevated Taino ancestry on the island, RSPH4A [c.921+3_6delAAGT] splice site mutation has been described as likely being of Taino origin, the main Native American tribe in the Caribbean at the start of the European colonization [7,12]. However, no previous studies have been completed to explore the ancestry of the RSPH4A [c.921+3_6delAAGT] splice site mutation. ...
Article
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Genetic mutations in >50 genes, including RSPH4A, can lead to primary ciliary dyskinesia (PCD). RSPH4A mutations affect radial spokes, which alter the configuration of the ciliary ultrastructure and lead to chronic oto-sinopulmonary disease. The RSPH4A [c.921+3_6delAAGT] founder mutation was described as one cause of PCD without laterality defects in Puerto Rico. The average Puerto Rican genetic composition includes 64% European, 21% African ancestral, and 15% Native-American or Taino, a native tribe in the Caribbean at the start of the European colonization, genes. Due to the relatively elevated Taino ancestry on the island, it might have contributed to the endemicity of the RSPH4A [c.921+3_6delAAGT] splice site mutation. However, the ancestry of this mutation is still not confirmed. This article describes the two pediatric PCD cases with the Puerto Rican foundermutationand reports an ancestral haplotype analysis of the RSPH4A [c.921+3_6delAAGT] splice site mutation. A median-joining haplotype network was constructed with the genome sequence data from 104 Puerto Rican subjects in the 1000 Genomes Project (1000GP). This study found that the RSPH4A [c.921+3_6delAAGT] splice site mutation was carried to Puerto Rico from Europe by conquistadors or shortly after the conquest and that it gained frequency on the island through genetic drift fueled by a subsequent population expansion.
... Blood samples provided for genetic analyses reveal that the gene pool of the Black Caribs on Saint Vincent contains the highest proportion of Amerindian genes ("approximately 50%"), while the coastal communities exhibit a greater African component-"up to 80%" (Crawford, 1983). In addition, admixture estimates for the Puerto Rican population reveal signs of gene flow from mainland Africa: 26% when JC virus strains were examined (Fernandez-Cobo et al., 2001) and 27.2% based on mitochondrial DNA (mtDNA) haplogroup data (Martinez-Cruzado et al., 2005), which assesses the DNA inherited from the female line. However, in contrast to Cuba, Native Americans serve as the major contributor to Puerto Rico's maternal gene pool (Martinez-Cruzado et al., 2005). ...
... In addition, admixture estimates for the Puerto Rican population reveal signs of gene flow from mainland Africa: 26% when JC virus strains were examined (Fernandez-Cobo et al., 2001) and 27.2% based on mitochondrial DNA (mtDNA) haplogroup data (Martinez-Cruzado et al., 2005), which assesses the DNA inherited from the female line. However, in contrast to Cuba, Native Americans serve as the major contributor to Puerto Rico's maternal gene pool (Martinez-Cruzado et al., 2005). In general in the Lesser Antillean islands, the West African admixture is greater than in the other islands, with minimal European and Native American components. ...
Article
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Latin America in general, and in particular the Caribbean islands, presents ideal material for population genetics studies due to the complex factors that influenced the contributions of Amerindians, Europeans, and Africans to the gene pools of different populations. The admixture studies have greatly facilitated the understanding of the historical processes involved in the configuration of the present Antillean populations. Each one of the Caribbean islands displays distinct microevolutionary, demographic, historical, and social processes. The divergent genetic variations in the Antillean islands reflect the different migratory processes of Europeans, Africans, and Native Americans into the Caribbean basin. In general, native populations were decimated all over the region, but other components are related to either the Europeans in former Spanish colonies, or Africans in all other islands. RESUMEN. América Latina en general, y en particular las Islas del Caribe son un material ideal para estudios de genética de poblaciones, debido a los complejos factores que influyeron en las con-tribuciones de los amerindios, europeos y africanos a los genofondos de diferentes poblaciones. Los estudios de mezcla han contribuido en gran medida a comprender el proceso histórico en la confor-mación de las actuales poblaciones Antillanas. En cada una de las Islas del Caribe se han producido procesos microevolutivos, demográficos, históricos y sociales que particularizan a las mismas entre sí. Las diferencias genéticas divergentes presentes en las Islas Antillanas indican diferentes procesos migratorios de los europeos, africanos y nativos americanos en la cuenca del Caribe. En términos generales, las poblaciones nativas fueron diezmadas en toda la región, en tanto que las otras contri-buciones están relacionadas al origen de los colonizadores europeos: en las colonias españolas pre-domina la contribución europea, pero en todas las otras islas la principal contribución es africana. RESUMO. Em geral, a América Latina e em particular as Ilhas do Caribe são um material ideal para os estudos genéticos de populações, devido aos complexos fatores que interferirão nas contribuições dos ameríndios, europeus e africanos dos genofondos das diversas populações. Os estudos referentes as misturas contribuem em grande medida a compreensão dos processos históricos na conformação das atuais populações antilhanas. As diferentes genéticas presentes nas ilhas antilhanas mostram diversos processos migratórios dos europeus, africanos y americanos nativos na bacia do Caribe.
... Previous research has attempted to address these debates by characterizing Native American genome segments found in present-day, admixed Puerto Ricans (Mart ınez-Cruzado et al. 2001, 2005Mart ınez-Cruzado 2002Gravel et al. 2013;Moreno-Estrada et al. 2013;Vilar et al. 2014). Caribbean islanders have varying proportions of African, European, Native American, and Asian genetic ancestry. ...
... Moreover, oral histories of Indigenous survival are common in Puerto Rico and other islands (Forte 2006). Some of these oral narratives are reinforced by genetic research which has found reservoirs of Native American genetic ancestry in communities that selfidentify with Indigenous or Maroon descent in Puerto Rico, Jamaica and other islands (Mart ınez-Cruzado et al. 2001;Madrilejo et al. 2015;Schurr et al. 2016;Fuller and Benn Torres 2018;Benn Torres et al. 2019). Furthermore, selfidentified and government-recognized Indigenous communities are found throughout the Caribbean and the international Caribbean diaspora (Forte 2006). ...
Article
Indigenous peoples have occupied the island of Puerto Rico since at least 3000 B.C. Due to the demographic shifts that occurred after European contact, the origin(s) of these ancient populations, and their genetic relationship to present-day islanders, are unclear. We use ancient DNA to characterize the population history and genetic legacies of pre-contact Indigenous communities from Puerto Rico. Bone, tooth and dental calculus samples were collected from 124 individuals from three pre-contact archaeological sites: Tibes, Punta Candelero and Paso del Indio. Despite poor DNA preservation, we used target enrichment and high-throughput sequencing to obtain complete mitochondrial genomes (mtDNA) from 45 individuals and autosomal genotypes from two individuals. We found a high proportion of Native American mtDNA haplogroups A2 and C1 in the pre-contact Puerto Rico sample (40% and 44%, respectively). This distribution, as well as the haplotypes represented, support a primarily Amazonian South American origin for these populations, and mirrors the Native American mtDNA diversity patterns found in present-day islanders. Three mtDNA haplotypes from pre-contact Puerto Rico persist among Puerto Ricans and other Caribbean islanders, indicating that present-day populations are reservoirs of pre-contact mtDNA diversity. Lastly, we find similarity in autosomal ancestry patterns between pre-contact individuals from Puerto Rico and the Bahamas, suggesting a shared component of Indigenous Caribbean ancestry with close affinity to South American populations. Our findings contribute to a more complete reconstruction of pre-contact Caribbean population history and explore the role of Indigenous peoples in shaping the biocultural diversity of present-day Puerto Ricans and other Caribbean islanders.
Technical Report
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Stocktaking of traditional knowledge (TK) in the Caribbean requires a simultaneous stocktaking of the Peoples of the Caribbean. The biggest concern of the Caribbean is that the definition of Traditional Knowledge as ‘oral knowledge developed over many generations adapted to local culture and environment by a definable cultural group’ (WIPO 2018), may need to be adjusted to include the Caribbean experience, so as not to deny them the benefit sharing promised under the Nagoya Protocol. The first part of this publication considers the international definitions of traditional knowledge and the responses of different voices from the Caribbean as it tries to interpret this concept for itself. The truth is that the Caribbean has never been settled by any one race or people for any length of time. The peoples in the Caribbean came from many different nations, whether forced or free, for a long period of time, from the Amerindians to present day settlers. These concerns expressed by various voices from the Caribbean are discussed in relation to ABS and the Nagoya Protocol. Another concern that impinges on the stocktaking of traditional knowledge is intellectual property, that is, who owns the rights to this knowledge? Is it the country from which the Peoples came? Or the country to which they came? Is it only to the Peoples who can still distinguish themselves such as the Maroons? Or the various combinations – Mulattos, Creoles, Garifunda? What about local communities who cannot trace their heritage, do they qualify? Then, are the benefits to be given to the individual, community, or country? Diaspora? These are relevant questions in the context of the Nagoya Protocol. Some countries have considered these questions and tried amending their IP systems accordingly. For many countries, while the questions have been considered they have not answered, or answered only partially. The next section discusses the identifiable People of the Caribbean and whether they can be considered traditional, indigenous or local. Where such cultural groupings are recognized, such as the Amerindians, Maroons, Garifuna they are described in this document. Surely, this is not an exhaustive list. Indeed, genetic studies are being employed to help determine the level of intermixing that has occurred In the Caribbean, leading to terms such as biracial and triracial. A consideration of such ‘traditional / indigenous peoples’ is against the back-drop that in the Caribbean, independence is relatively recent and many countries are still overseas territories of nations outside of the Caribbean region. The relative impact of these many nations on Caribbean ‘traditional knowledge’ is discussed. The concern is, that while the authorities try to deal with the situation which is the Caribbean, its medicinal plants and their associated recipes are benefitting those outside the region. Much information about Caribbean biodiversity and associated traditional or folk knowledge resides outside of the region and needs to be repatriated, that is, returned to the region. For these, stocking taking is well-nigh impossible without the cooperation of international agencies, botanical gardens and universities outside of the Caribbean. This document then considers the Caribbean response to its history and biodiversity. There have arisen many local Caribbean groups working together to identify Peoples, such as the Caribbean Indigenous Legacies Project for the Taino Culture, the Garifunda movement for Black Caribs, and associated traditional/folk knowledge research groups such as TRAMIL. It is through the work of these groups, and the book writers, and the scientists, often with very little funding (as most countries of the Caribbean are Small Island Developing States [SIDS]), that the traditional folk knowledge of the Caribbean is becoming known to the wider society. International groups such as WIPO, GEF, IUCN and others are helping. Without this regional and international help, the task would be even harder. A desk top and field work study was undertaken to unearth the traditional knowledge of the Caribbean relevant to ABS for microbes, land animals, land plants and marine organisms. Use of plants for folk medicine make up the majority of the Caribbean TK linked to genetic resources. There are two levels of information obtained which links Caribbean biodiversity to TK. One is based on studies of how local communities and distinguishable People are using the biodiversity around them for a living, and specifically how it used for health (to prevent, to cure and to strengthen) as folk medicine. The plants are used mostly as infusions and decoctions for a wide variety of health conditions, interestingly for preventative as well as curative uses, and for wellness. A group of five TRAMIL papers is analysed thus allowing a comparison of the medicinal plant occurrence in these countries. These and similar studies have resulted in the online TRAMIL database. Another level of information is found in medicinal plant books written by Caribbean authors as they slowly turn a largely oral tradition into a written database of knowledge. The originators of these recipes is largely unknown. Many of these folk medicinal uses (as practised in households throughout the Caribbean and by trained Caribbean herbalists) have been published in books. There are many similarities in plants and recipes between the various islands and mainland countries of the Caribbean. Nearly every country of the Caribbean has now published at least one book on its ethnobotany, or folk medicine as it is called in the Caribbean. This knowledge resides with expert practitioners, such as the Maroon and Garifunda herbalists, but also with the mothers, fathers, grandmothers and grandfathers throughout the region. This is one step removed from Traditional knowledge as often times the source of the knowledge is not identified. A study of 21 Caribbean medicinal plant books has been undertaken in terms of medicinal plants used. This study is summarized in here and is expounded on in the bioprospecting document of this set of documents. The last section in this publication is devoted to three countries: Jamaica, Trinidad & Tobago, and Guyana. This section starts with a comparison of the medicinal plant families found in the three countries obtained from published books and referred journal articles on this subject. After this section, each country is considered separately in terms of its population density, history, Peoples, any genetic studies, and a summary of its traditional or folk knowledge – mostly in terms of medicinal plants and their associated medicinal use. Where applicable, the status in law and government policy in relation to TK and distinguishable Peoples is highlighted. References include those used in the document and those pertaining to the distinct Peoples of the Caribbean as well as studies of its medicinal plants which represent local folk use. Appendix 1 gives more details on the Geographic Project in Puerto Rico, Appendix 2 is a stocktaking of the medicinal plants identified in five TRAMIL studies in Puerto Rico, Guadeloupe, Martinique, Jamaica, Trinidad and Tobago. Where the same plant has been identified for its medicinal use in more than one countries, this has been indicated. Appendix 3 highlights a Bourda bush seller from Guyana who can declare a long history of herb use, representing one of the finer examples of Caribbean TK. Appendix 4 is an article by a Guyanese national, a voice from the Caribbean that speaks for all of us, to plead for the unending local intellectual protection of the traditional knowledge of the Caribbean for perpetuity, for the benefit of the Caribbean. Appendix 5 refers to the 21 book study – listing the books used and giving a summary information of the plants listed therein. This report aims to be comprehensive. However if there are errors of omission, the authors take responsibility and hope that such feedback could be shared with us. If there is any book, literature source or other information on Caribbean biodiversity, traditional knowledge or other topics relevant to this discourse, please let us know. This will enable us to improve this report going forward.
Article
Objectives: The history of the Caribbean region is marked by numerous and various successive migration waves that resulted in a global blending of African, European, and Amerindian lineages. As the origin and genetic composition of the current population of French Caribbean islands has not been studied to date, we used both mitochondrial DNA and Y-chromosome markers to complete the characterization of the dynamics of admixture in the Guadeloupe archipelago. Materials and methods: We sequenced the mitochondrial hypervariable regions and genotyped mitochondrial and Y-chromosomal single nucleotide polymorphisms (SNPs) of 198 individuals from five localities of the Guadeloupe archipelago. Results: The maternal haplogroups revealed a blend of 85% African lineages (mainly traced to Western, West-Central, and South-Eastern Africa), 12.5% Eurasian lineages, and 0.5% Amerindian lineages. We highlighted disequilibria between European paternal contribution (44%) and European maternal contribution (7%), pointing out an important sexual asymmetry. Finally, the estimated Native American component was strikingly low and supported the near-extinction of native lineages in the region. Discussion: We confirmed that all historically known migratory events indeed left a visible genetic imprint in the contemporary Caribbean populations. The data gathered clearly demonstrated the significant impact of the transatlantic slave trade on the Guadeloupean population's constitution. Altogether, the data in our study confirm that in the Caribbean region, human population variation is correlated with colonial and postcolonial policies and unique island histories.
Preprint
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Indigenous peoples have occupied the island of Puerto Rico since at least 3000 B.C. Due to the demographic shifts that occurred after European contact, the origin(s) of these ancient populations, and their genetic relationship to present-day islanders, are unclear. We use ancient DNA to characterize the population history and genetic legacies of pre-contact Indigenous communities from Puerto Rico. Bone, tooth and dental calculus samples were collected from 124 individuals from three pre-contact archaeological sites: Tibes, Punta Candelero and Paso del Indio. Despite poor DNA preservation, we used target enrichment and high-throughput sequencing to obtain complete mitochondrial genomes (mtDNA) from 45 individuals and autosomal genotypes from two individuals. We found a high proportion of Native American mtDNA haplogroups A2 and C1 in the pre-contact Puerto Rico sample (40% and 44%, respectively). This distribution, as well as the haplotypes represented, support a primarily Amazonian South American origin for these populations, and mirrors the Native American mtDNA diversity patterns found in present-day islanders. Three mtDNA haplotypes from pre-contact Puerto Rico persist among Puerto Ricans and other Caribbean islanders, indicating that present-day populations are reservoirs of pre-contact mtDNA diversity. Lastly, we find similarity in autosomal ancestry patterns between pre-contact individuals from Puerto Rico and the Bahamas, suggesting a shared component of Indigenous Caribbean ancestry with close affinity to South American populations. Our findings contribute to a more complete reconstruction of pre-contact Caribbean population history and explore the role of Indigenous peoples in shaping the biocultural diversity of present-day Puerto Ricans and other Caribbean islanders.
Preprint
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Latin America in general, and in particular the Caribbean islands are a ideal material for population genetics studies, due to the complex factors that influenced the contributions of Amerindians, Europeans, and Africans to the gene pools of different populations. The admixture studies have greatly contributed to understand the historical process in the conformation of the present Antillean populations. The divergent genetic differences present in the Antillean islands indicate to the different migratory process of Europeans, Africans and Native Americans into Caribbean basin. Also in each of the Caribbean islands have been produced microevolutionary, demographic, historical and social processes that particularize each other. América Latina en general, y en particular las islas del Caribe son un material ideal para estudios de genética de poblaciones, debido a los complejos factores que influyeron en las contribuciones de los amerindios, europeos y africanos a los genofondos de diferentes poblaciones. Los estudios de mezcla han contribuido en gran medida a comprender el proceso histórico en la conformación de las actuales poblaciones antillanas. Las diferencias genéticas divergentes presentes en las islas antillanas indican diferentes procesos migratorios de los europeos, africanos y americanos nativos en la cuenca del Caribe. También en cada una de las islas del Caribe se han producido procesos microevolutivos, demográficos, históricos y sociales que particularizan a las mismas entre sí. RESUMO A América Latina em geral, e particularmente as ilhas caribenhas, são um material ideal para estudos de genética de populações devido aos fatores complexos que influenciaram as contribuições de ameríndios, europeus e africanos nos pools gênicos das diferentes populações. Os estudos de miscigenação contribuíram grandemente para o entendimento dos processos históricosna formação das populações atuais das Antilhas. As diferenças genéticas divergentes presentes nas Antilhas são um indicativo dos diferentes processos migratórios de europeus, africanos e nativos americanos no Caribe. Além disso, em cada uma das ilhas caribenhas ocorreram processos microevolutivos, demográficos, históricos e sociais que particularizam cada uma.
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The complete sequence of the 16,569-base pair human mitochondrial genome is presented. The genes for the 12S and 16S rRNAs, 22 tRNAs, cytochrome c oxidase subunits I, II and III, ATPase subunit 6, cytochrome b and eight other predicted protein coding genes have been located. The sequence shows extreme economy in that the genes have none or only a few noncoding bases between them, and in many cases the termination codons are not coded in the DNA but are created post-transcriptionally by polyadenylation of the mRNAs.
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Mitochondrial DNA was purified from four species of higher primates (Guinea baboon, rhesus macaque, guenon, and human) and digested with 11 restriction endonucleases. A cleavage map was constructed for the mitochondrial DNA of each species. Comparison of the maps, aligned with respect to the origin and direction of DNA replication, revealed that the species differ from one another at most of the cleavage sites. The degree of divergence in nucleotide sequence at these sites was calculated from the fraction of cleavage sites shared by each pair of species. By plotting the degree of divergence in mitochondrial DNA against time of divergence, the rate of base substitution could be calculated from the initial slope of the curve. The value obtained, 0.02 substitutions per base pair per million years, was compared with the value for single-copy nuclear DNA. The rate of evolution of the mitochondrial genome appears to exceed that of the single-copy fraction of the nuclear genome by a factor of about 10. This high rate may be due, in part, to an elevated rate of mutation in mitochondrial DNA. Because of the high rate of evolution, mitochondrial DNA is likely to be an extremely useful molecule to employ for high-resolution analysis of the evolutionary process.
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mtDNA was successfully extracted from 108 individuals from the Norris Farms Oneota, a prehistoric Native American population, to compare the mtDNA diversity from a pre-Columbian population with contemporary Native American and Asian mtDNA lineages and to examine hypotheses about the peopling of the New World. Haplogroup and hypervariable region I sequence data indicate that the lineages from haplogroups A, B, C, and D are the most common among Native Americans but that they were not the only lineages brought into the New World from Asia. The mtDNA evidence does not support the three-wave hypothesis of migration into the New World but rather suggests a single "wave" of people with considerable mtDNA diversity that exhibits a signature of expansion 23,000-37,000 years ago.
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mtDNA sequence variation was studied in 419 individuals from nine Eurasian populations, by high-resolution RFLP analysis, and it was followed by sequencing of the control region of a subset of these mtDNAs and a detailed survey of previously published data from numerous other European populations. This analysis revealed that a major Paleolithic population expansion from the "Atlantic zone" (southwestern Europe) occurred 10,000-15,000 years ago, after the Last Glacial Maximum. As an mtDNA marker for this expansion we identified haplogroup V, an autochthonous European haplogroup, which most likely originated in the northern Iberian peninsula or southwestern France at about the time of the Younger Dryas. Its sister haplogroup, H, which is distributed throughout the entire range of Caucasoid populations and which originated in the Near East approximately 25,000-30,000 years ago, also took part in this expansion, thus rendering it by far the most frequent (40%-60%) haplogroup in western Europe. Subsequent migrations after the Younger Dryas eventually carried those "Atlantic" mtDNAs into central and northern Europe. This scenario, already implied by archaeological records, is given overwhelming support from both the distribution of the autochthonous European Y chromosome type 15, as detected by the probes 49a/f, and the synthetic maps of nuclear data.
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The Asian-specific 9-bp deletion between the genes for mitochondrial cytochrome oxidase II and lysine transfer RNA has been used to trace aboriginal human movements out of Southeast Asia and into portions of the South Pacific. Although it has been used to estimate the number of independent lineages that occur in the New World, it has not been studied in native peoples of the Beringian region. Thus, we have used PCR to amplify and compare the lengths of DNA segments surrounding this deletion in native peoples of Beringia and the adjacent regions, as well as natives of the Altai Mountains of Southwestern Siberia. Of the 176 individuals analyzed here, the deletion was found in only 3 of 25 individuals from the Ust-Kan region of the Altai Mountains. We comment on the distribution of this marker and on potential relationships between Beringians and other Native American groups in which this marker has been surveyed. One Chukchi possessed three copies of the 9-bp sequence, which suggests (1) that the number of copies of this sequence in humans may be more variable than had been believed and (2) that a mechanism of replication based on tandem duplication may be a potential explanation for the origin of this length mutation in humans.
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Pieces of mitochondrial DNA from a 7000-year-old human brain were amplified by the polymerase chain reaction and sequenced. Albumin and high concentrations of polymerase were required to overcome a factor in the brain extract that inhibits amplification. For this and other sources of ancient DNA, we find an extreme inverse dependence of the amplification efficiency on the length of the sequence to be amplified. This property of ancient DNA distinguishes it from modern DNA and thus provides a new criterion of authenticity for use in research on ancient DNA. The brain is from an individual recently excavated from Little Salt Spring in southwestern Florida and the anthropologically informative sequences it yielded are the first obtained from archaeologically retrieved remains. The sequences show that this ancient individual belonged to a mitochondrial lineage that is rare in the Old World and not previously known to exist among Native Americans. Our finding brings to three the number of maternal lineages known to have been involved in the prehistoric colonization of the New World.
Article
Human mitochondrial DNA was obtained from peripheral blood platelets donated by the members of several independent families. The samples were screened for nucleotide sequence polymorphisms between individuals within these families. In each family in which we were able to detect a distinctly different restriction endonuclease cleavage pattern between the parents, the progeny exhibited the maternal cleavage pattern. Informative polymorphisms were detected for Hae II (PuGCGCPy) in a three-generation family composed of 33 members, for HincII (GTPyPuAC) in a two-generation family composed of four members, and for Hae III(GGCC) in a two-generation family composed of four members. The Hae II polymorphism was analyzed through all three generations in both the maternal and paternal lines. The results of this study demonstrate that human mitochondrial DNA is maternally inherited. The techniques described for using peripheral blood platelets as a source of human mitochondrial DNA represent a convenient way to obtain data on mitochondrial DNA variation in both individuals and populations.
Article
Mitochondrial DNA (mtDNA) haplotype diversity was determined for 63 Chibcha-speaking Kuna Amerinds sampled widely across their geographic range in eastern Panamá. The Kuna data were compared with mtDNA control region I sequences from two neighboring Chibchan groups, the Ngöbé and the Huetar; two Amerind groups located at the northern and southern extremes of Amerind distribution, the Nuu-Chah-Nulth of the Pacific Northwest and the Chilean Mapuche; and with a single Na-Dene group, the Haida of the Pacific Northwest. The Kuna exhibited low levels of mitochondrial diversity as had been reported for the other two Chibchan groups and, furthermore, carried only two of the four Amerind founding lineages first reported by Schurr and coworkers (Am. J. Hum. Genet. 1990; 46: 613-623). We posit that speakers of modern Chibchan languages (henceforth referred to as the Chibcha) passed through a population bottleneck caused either by ethnogenesis from a small founding population and/or subsequent European conquest and colonization. Using the approach of Harpending et al. (Curr. Anthropol. 1993; 34: 483-496), we estimated a Chibchan population bottleneck and subsequent expansion approximately 10,000 years before present, a date consistent with a bottleneck at the time of Chibchan ethnogenesis. The low mtDNA diversity of Kuna Amerinds, as opposed to the generally high levels of mtDNA variation detected in other Amerind groups, demonstrates the need for adequate sampling of cultural or racial groups when attempting to genetically characterize human populations.
Article
For a genetic analysis of ancient human populations to be useful, it must be demonstrated that the DNA samples under investigation represent a single human population. Toward that end, we have analyzed human DNA from the Windover site (7000-8000 BP). MHC-I analysis, using allele-specific oligonucleotide hybridization to PCR amplified Windover DNA, microsatellite analysis by PCR of the APO-A2 repeat and mtD-loop 3' region sequencing on multiple individuals spanning nearly the full range of estimated burial dates all confirm the hypothesis that there is a persistence of both nuclear and mitochondrial haplotypes at Windover throughout its entire period of use. Thus, Windover can be considered a single population. Neighbor-joining tree analysis of mtDNA sequences suggests that some mitochondrial types are clearly related to extant Amerind types, whereas others, more distantly related, may reflect genetically distinct origins. A more complete sequence analysis will be required to firmly resolve this issue. Calibrating genetic relationships deduced by tree analysis, radiocarbon dates and burial position, yields a human mtD-loop DNA rate of evolution of 3700 to 14,000 years per percent change. Both values are within the range of recent, independently calculated values using estimates of evolutionary divergence or theoretical population genetics. Thus we are beginning to realize the promise of ancient DNA analysis to experimentally answer heretofore unapproachable questions regarding human prehistory and genetic change.
Article
We searched for the East Asian mtDNA 9-bp deletion in the intergenic COII/tRNA(Lys) region in a sample of 107 Tharus (50 from central Terai and 57 from eastern Terai), a population whose anthropological origin has yet to be completely clarified. The deletion, detected by electrophoresis of the PCR-amplified nt 7392-8628 mtDNA fragment after digestion with HaeIII, was found in about 8% of both Tharu groups but was found in none of the 76 Hindus who were examined as a non-Oriental neighboring control population. A complete triplication of the 9-bp unit, the second case so far reported, was also observed in one eastern Tharu. All the mtDNAs with the deletion, and that with the triplication, were further characterized (by PCR amplification of the relevant mtDNA fragments and their digestion with the appropriate enzymes) to locate them in the Ballinger et al. phylogeny of East Asian mtDNA haplotypes. The deletion was found to be associated with four different haplotypes, two of which are reported for the first time. One of the deletions and especially the triplication could be best explained by the assumption of novel length-change events. Ballinger's classification of East Asian mtDNA haplotypes is mainly based on the phenotypes for the DdeI site at nt 10394 and the AluI site at nt 10397. Analysis of the entire Tharu sample revealed that more than 70% of the Tharus have both sites, the association of which has been suggested as an ancient East Asian peculiarity. These results conclusively indicate that the Tharus have a predominantly maternal Oriental ancestry. Moreover, they show at least one and perhaps two further distinct length mutations, and this suggests that the examined region is a hot spot of rearrangements.