scholarly journals Indigenous ancestry and admixture in the Uruguayan population

2021 ◽  
Author(s):  
Lucia Spangenberg ◽  
Maria Ines Fariello ◽  
Dario Arce ◽  
Gabriel Illanes ◽  
Gonzalo Greif ◽  
...  

The Amerindian group known as the Charrúas inhabited Uruguay at the timing of European colonial contact. Even though they were extinguished as an ethnic group as a result of a genocide, Charrúan heritage is part of the Uruguayan identity both culturally and genetically. While mitochondrial DNA studies have shown evidence of Amerindian ancestry in living Uruguayans, here we undertake whole-genome sequencing of 10 Uruguayan individuals with Charruan heritage. We detect chromosomal segments of Amerindian ancestry supporting the presence of indigenous genetic ancestry in living descendants. Specific haplotypes were found to be enriched in 'Charrúas' and rare in the rest of the Amerindian groups studied. Some of these we interpret as the result of positive selection, as we identified selection signatures and they were located mostly within genes related to the infectivity of specific viruses. Historical records describe contacts of the Charrúas with other Amerindians, such as Guaraní, and patterns of genomic similarity observed here concur with genomic similarity between these groups. Less expected, we found a high genomic similarity of the Charrúas to Diaguita from Argentinian and Chile, which could be explained by geographically proximity. Finally, by fitting admixture models of Amerindian and European ancestry for the Uruguayan population, we were able to estimate the timing of the first pulse of admixture between European and Uruguayan indigenous peoples in 1658 and the second migration pulse in 1683. Both dates roughly concurring with the Franciscan missions in 1662 and the foundation of the city of Colonia in 1680 by the Spanish.

2021 ◽  
Vol 12 ◽  
Author(s):  
Lucía Spangenberg ◽  
María Inés Fariello ◽  
Darío Arce ◽  
Gabriel Illanes ◽  
Gonzalo Greif ◽  
...  

The Amerindian group known as the Charrúas inhabited Uruguay at the timing of European colonial contact. Even though they were extinguished as an ethnic group as a result of a genocide, Charrúan heritage is part of the Uruguayan identity both culturally and genetically. While mitochondrial DNA studies have shown evidence of Amerindian ancestry in living Uruguayans, here we undertake whole-genome sequencing of 10 Uruguayan individuals with self-declared Charruan heritage. We detect chromosomal segments of Amerindian ancestry supporting the presence of indigenous genetic ancestry in living descendants. Specific haplotypes were found to be enriched in “Charrúas” and rare in the rest of the Amerindian groups studied. Some of these we interpret as the result of positive selection, as we identified selection signatures and they were located mostly within genes related to the infectivity of specific viruses. Historical records describe contacts of the Charrúas with other Amerindians, such as Guaraní, and patterns of genomic similarity observed here concur with genomic similarity between these groups. Less expected, we found a high genomic similarity of the Charrúas to Diaguita from Argentinian and Chile, which could be explained by geographically proximity. Finally, by fitting admixture models of Amerindian and European ancestry for the Uruguayan population, we were able to estimate the timing of the first pulse of admixture between European and Uruguayan indigenous peoples in approximately 1658 and the second migration pulse in 1683. Both dates roughly concurring with the Franciscan missions in 1662 and the foundation of the city of Colonia in 1680 by the Spanish.


Mitochondrion ◽  
2021 ◽  
Author(s):  
Ruoying Chen ◽  
Micheala A Aldred ◽  
Weiling Xu ◽  
Joe Zein ◽  
Peter Bazeley ◽  
...  

2021 ◽  
Author(s):  
Stephanie Y Yang ◽  
Charles E Newcomb ◽  
Stephanie L Battle ◽  
Anthony YY Hsieh ◽  
Hailey L Chapman ◽  
...  

Mitochondrial DNA copy number (mtDNA-CN) is a proxy for mitochondrial function and has been of increasing interest to the mitochondrial research community. There are several ways to measure mtDNA-CN, ranging from whole genome sequencing to qPCR. A recent article from the Journal of Molecular Diagnostics described a novel method for measuring mtDNA-CN that is both inexpensive and reproducible. However, we show that certain individuals, particularly those with very low qPCR mtDNA measurements, show poor concordance between qPCR and whole genome sequencing measurements. After examining whole genome sequencing data, this seems to be due to polymorphisms within the D-loop primer region. Non-concordant mtDNA-CN was observed in all instances of polymorphisms at certain positions in the D-loop primer regions, however, not all positions are susceptible to this effect. In particular, these polymorphisms appear disproportionately in individuals with the L, T, and U mitochondrial haplogroups, indicating non-random dropout.


2019 ◽  
Vol 4 (2) ◽  
pp. 63-65
Author(s):  
Noor aisyah Mokhtar ◽  
Kamarul afizi Kosman

Research Highlights Despite of many historical records from Portuguese about the physical of Melaka Malay City, its existence is still doubtful since there is no clear physical evidence that can be used as basis support to its existence. However, to prove that the city was existed, various physical and scientific evidence are required to prove its existence. Thus, this study aims to identify historical evidence that mentioned its existence which based on the first painting of A’Famosa (Malacca Fort City during Portuguese era). The study proposed three hypothesis and results indicated there is a postivie outcome to prove that the Melaka Malay City existed on and around Bukit Melaka (or St Paul Hill now) based on historical records and sketches found.   Research Objectives This paper attempts to uncover and reveal the historical evidence of Melaka Malay (Fort) City before the city was destroyed and rebuilt according to Portuguese terms. This paper was created to identify the differences between designs and layout plans between the Malacca Malay (Fort) City and the world-renowned Fort A’Famosa, thus comparing the hypothesis arguments about the existence of Melaka City. Indeed, there is a clear distinction between the design, layout, character and philosophy of the Malay and Portuguese cities. The scope focuses only on the site of the physical building (which is believed to be historical evidence) of the city at the Melaka River’s estuary where important and significant buildings during Melaka Malay empire was constructed – the palace, mosque, administration buildings, harbors, and different kind of settlements. There is a great probability of continuing this study into the use of satellite technology in determining and identifying the Melaka Malay City with more precise and accurate details. The implication of this study can be a catalyst for continuous and deeper research on the original site of the Melaka Malay City as to prove the validity of its existences.   Methodology In an effort to discuss the existence of this Melaka Malay City, various aspects and methods were conducted to find the most suitable matches and comparisons that almost accurately describe their design then prove its existence. The remains and plans of Melaka City today since the British era will be the basis of its existence. Hence, the study of historical records and sketches of the Melaka City from the Dutch government and subsequently the Portuguese will be made to seek physical evidence of the earliest design of Melaka City. Later, the historical records of the city from Malay Archipelago, Chinese, Portuguese and Dutch sources will be depicted in city design. As a reinforcement, the philosophy of urban design in the Malay World is highlighted as well as presenting the comparison between the other Malay Kingdoms and the Melaka Malay City.   Results The foundations of the Malay cities basically were designed in square or rectangular shape, no matter how far the city was set up (Abdul Halim Nasir, 1990). This is in line with the philosophy in the Malay world that associated with a simple yet sufficient form of compassion that covers the various aspects of the Malay community's facilities and their living that are synonymous with modular systems (Yusoff Hashim, 2010). The first Fort A'Famosa built by the Portuguese was rectangular (G.W.Irwin, 2006). Its position was below the foot of Bukit Melaka and along the estuary of the Melaka River which is also near the bridge stretching the mouth of the Melaka River (Portuguese Documents of Malacca, 11: 6 de Goes, para 11). The city of A'Famosa in the painting has a relatively six-tower on the corner of the city near the bridge. Whereas city fort or bastion on three other city corners are two-storey building. A’Famosa was built on the site of the Great Mosque of Melaka (Portuguese Documents of Malacca, 11: 6 de Goes, the 25th) which features a rectangular shape as the custom of mosques designs in the Malay Archipelago realm at that time, then the A'Famosa was originally built in rectangular over the ruins (or damage) of the Great Mosque Malacca after the success of Portuguese colonization.   Findings The research showed that the design of Melaka City or A'Famosa City was in square or rectangular shape as it was built on the ruins of the Great Mosque of Melaka. The rectangular fort design was synonym with the design of other Malay forts or cities as it was a fundamental design tradition in the Malay world from fourth century until the later centuries after the collapse of Melaka empire either in Malay clusters. This coincides with the urban philosophy and design of the Malay and Islamic city that breed in the Malay Archipelago region at that time.


2019 ◽  
Vol 42 (2) ◽  
pp. 203-215
Author(s):  
Hasan Moradian ◽  
Ali Esmailizadeh Koshkoiyeh ◽  
Mohammadreza Mohammadabadi ◽  
Masood Asadi Fozi

2019 ◽  
Vol 2 (3) ◽  
pp. 645-664
Author(s):  
Ann Elias

This article explores the case study of a coal mine that was first tunneled under Sydney Harbour in 1897 but closed in 1931. Specifically, it examines how the history of the mine intersects with aesthetics, race, colonialism, and Indigenous dispossession. Centered on the story of an English mining company that first sought a mine site in a pastoral area of the city, but under public pressure was forced to select instead a grimy working class suburb on the opposite harbor shore, the article argues that environmental aesthetics and tastes in beauty collaborated with extractivism. The argument emerges that economics, art, and aesthetics are inextricably linked in this history and further, that while the mine excited the industrial imagination through the aesthetic of the sublime, and associations with darkness and vastness, it conflicted with colonial settler tastes for the pastoral imagination defined by the aesthetics of the beautiful and its associations with light. The article discusses the context of a settler economy in lands stolen from Indigenous peoples, and how conceptualizations of the sublime and beautiful, as well as dark and light, were aligned with the racialization of the properties of coal and space above and below ground.


2020 ◽  
Vol 31 (2) ◽  
pp. 365-373 ◽  
Author(s):  
Adam P. Levine ◽  
Melanie M.Y. Chan ◽  
Omid Sadeghi-Alavijeh ◽  
Edwin K.S. Wong ◽  
H. Terence Cook ◽  
...  

BackgroundPrimary membranoproliferative GN, including complement 3 (C3) glomerulopathy, is a rare, untreatable kidney disease characterized by glomerular complement deposition. Complement gene mutations can cause familial C3 glomerulopathy, and studies have reported rare variants in complement genes in nonfamilial primary membranoproliferative GN.MethodsWe analyzed whole-genome sequence data from 165 primary membranoproliferative GN cases and 10,250 individuals without the condition (controls) as part of the National Institutes of Health Research BioResource–Rare Diseases Study. We examined copy number, rare, and common variants.ResultsOur analysis included 146 primary membranoproliferative GN cases and 6442 controls who were unrelated and of European ancestry. We observed no significant enrichment of rare variants in candidate genes (genes encoding components of the complement alternative pathway and other genes associated with the related disease atypical hemolytic uremic syndrome; 6.8% in cases versus 5.9% in controls) or exome-wide. However, a significant common variant locus was identified at 6p21.32 (rs35406322) (P=3.29×10−8; odds ratio [OR], 1.93; 95% confidence interval [95% CI], 1.53 to 2.44), overlapping the HLA locus. Imputation of HLA types mapped this signal to a haplotype incorporating DQA1*05:01, DQB1*02:01, and DRB1*03:01 (P=1.21×10−8; OR, 2.19; 95% CI, 1.66 to 2.89). This finding was replicated by analysis of HLA serotypes in 338 individuals with membranoproliferative GN and 15,614 individuals with nonimmune renal failure.ConclusionsWe found that HLA type, but not rare complement gene variation, is associated with primary membranoproliferative GN. These findings challenge the paradigm of complement gene mutations typically causing primary membranoproliferative GN and implicate an underlying autoimmune mechanism in most cases.


2021 ◽  
pp. 121-158
Author(s):  
Marion Grau

Nidaros Cathedral in Trondheim is the historical resting place of St. Olav and an end point of many of the pilgrimage trails in Norway. The history of the cathedral intersects with the history of the city and the region as one of significant economic and religious significance. The movement of St. Olav’s relics throughout the city matches urban and religiocultural development of city and nation. This chapter explores the cathedral’s architecture and use and how contemporary engagements with the space facilitate ritual creativity and are part of the hosting and welcoming of pilgrims. Along with other centers of hospitality, the cathedral looms especially large as a main attraction point for both tourists and pilgrims in Trondheim, as an adaptable space for many purposes. The annual St. Olavsfest is a ten-day festival that begins with the saint’s day and features liturgies, concerts, plays, lectures, a medieval market, and televised panel discussions to involve city and region in the celebration of local history and culture. Controversial topics such as the colonial repression of Sámi indigenous peoples, the violent heritage of Viking king St. Olav, religious and other forms of discrimination, social injustice, and international solidarity are among the themes discussed during the festival. Thus, the “protest” in Protestantism is reflected in a critical engagement with history and with the ongoing development of the ritualization of Christian history and heritage in Norway.


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