12 research outputs found
Socially responsible genetic research with descendants of the First Australians
Aboriginal Australians, one of the world’s indigenous peoples now outnumbered through colonization, are the most under-represented in genetic research because they feel that the benefits do not outweigh the social cost of involvement. Descendants of the First Australians have survived a period of European occupation during which time they were dispossessed of land, language and cultural identity resulting in inequities in health, education, and employment opportunities. Compared to Maori and Native American peoples, the ability to form organizations that help to control their affairs is very recent. The desire to control is understandably strong yet the ‘gate-keeping’ role of some organizations risks shifting the control away from smaller communities and has become increasingly politicized. In the past, research practices by Western scientists were poorly presented and have resulted in resistance to proposals that are perceived to have no beneficial outcomes for participants. In this age of advanced technological expertise in genetics, benefits to all humanity are clear to those carrying out research projects, yet not always to those being asked to participate, presenting extra challenges. Excellent guidelines for ethical conduct in research are available to assist researchers, prospective participants, and ethics committees or review boards that approve and monitor procedures. The essence of these guidelines are that research should be carried out with a spirit of integrity, respect, reciprocity, parity, recognition of survival and protection of social and cultural values, a need for control and shared responsibility. Specific Aboriginal organizations, with which researchers need to work to negotiate partnerships, vary within and between Australian states and will always expect Aboriginal personnel to be involved. People experienced in the consultation process are necessary as part of a team. By working patiently through lengthy negotiations with Aboriginal Australians, scientists can achieve valuable results, but failure to do so with respect and understanding will not yield hoped for outcomes. My own experience working with communities in the Darling River region of western New South Wales has been an enriching and rewarding one, with a long period of successful research lately delayed by increased expectation of monitoring and involvement at state level
Ancient nuclear genomes enable repatriation of Indigenous human remains.
After European colonization, the ancestral remains of Indigenous people were often collected for scientific research or display in museum collections. For many decades, Indigenous people, including Native Americans and Aboriginal Australians, have fought for their return. However, many of these remains have no recorded provenance, making their repatriation very difficult or impossible. To determine whether DNA-based methods could resolve this important problem, we sequenced 10 nuclear genomes and 27 mitogenomes from ancient pre-European Aboriginal Australians (up to 1540 years before the present) of known provenance and compared them to 100 high-coverage contemporary Aboriginal Australian genomes, also of known provenance. We report substantial ancient population structure showing strong genetic affinities between ancient and contemporary Aboriginal Australian individuals from the same geographic location. Our findings demonstrate the feasibility of successfully identifying the origins of unprovenanced ancestral remains using genomic methods
Mitochondrial D-loop sequences in aboriginal Australians : reflections of maternal genetic history in people from the Darling River and central desert regions
Examination of the hypervariable mitochondrial D-loop segment 1 (mt DLSl) reveals informative sequence types from aboriginal Australian people in the Darling River region of NSW (Riverine) and from Yuendumu in central Australia (Desert). Pairwise analysis reveals statistically significant structure in the populations although some identical DLSl types are seen in the two contrasting regions. Mt DLSl types may reflect more ancient distributions than linguistic diversity and other culturally distinguishing attributes. Median network sequence trees suggest that the northern Darling Riverine (including Ngiyambaa people) and south Darling Riverine (Paakintji) populations are distinguishable from each other implying a different evolutionary history, though the distinctions do not conform strictly to known
language groups.
Comparison with five published global studies reveals that these Australians demonstrate greatest divergence from some Africans, least from Papua New Guinea (PNG) highlanders and only slightly more divergence from some Pacific groups (Indonesian, Asian, Samoan and coastal PNG) although the DLSl types described appear different when listed. Sequence trees examined by the median network method demonstrate that several hypervariable nucleotide sites within the DLSl are likely to have undergone mutation independently making phylogenetic comparison with other global samples difficult. However, several nucleotide sites which vary in high frequency in some Australian DLSl types, also determine main separations in the median networks. The distribution of the frequencies with which these vary in an extended global data set from published studies, suggests that some may be useful markers to postulate prehistoric migration patterns. The frequency distribution for one of these, nucleotide 16223, suggests that a thymine at this site may be ancestral to the cytosine form seen in commonly in European and Pacific populations. The distribution of 16223T in Australian mtDLSl types compared to global studies is consistent with two main waves of immigrants entering Australia in prehistoric times and spreading at least as far as the Murray-Darling junction.
Estimates of time for these colonising events remains elusive, because evolutionary rate at some nucleotide sites within the D-loop appears to vary. This implies that selective constraints operate in the mitochondrial D—loop, but understanding how these constraints may determine mitochondrial haplotypes that survive requires further investigation at the molecular and population level.
Populations in the Darling River region are known to have been reduced by genocide and introduced disease following European settlement, implying that diversity was reduced. Extension of the study to include populations from further along both the Darling and Murray Rivers is likely to improve our understanding of recent evolutionary processes as reflected in the mitochondrial genome
Craniometrics, clines and climate : a study of environmental adaptation in holocene aborigines from the east coast of Australia
Statistically significant correlations between anthropometric land environmental variables havel I been demonstrated in samples of Holocene Aboriginal crania and mandibles from the east coast of Australia. In testing for variation that may be attributed to climatic adaptation, the model of decreased nasal breadth in colder climates is not supported, but increased cranial breadth is included in principal component scores which correlate with increased latitude and decreased temperatures. Thus the model of increased brachycephalization as a response to decreased temperature is not refuted by these results, but the support demonstrated is secondary to more impressive results for the face and mandibles, for which thermoregulatory explanations have not hitherto been suggested
Working with Australian Indigenous populations
Understanding Pathophysiology, 2nd Edition has been extensively revised to include the most current science, clinical case material and pharmacology of pathophysiology, in an easy-to-understand and accessible format.
Beginning with essential concepts, the text examines the normal structure and function of each body system, followed by the alterations to that system caused by disease. Conditions particularly relevant to children and to the ageing are described in separate sections in each chapter to demonstrate disease processes across the life span
Whole-Genome Genetic Diversity in a Sample of Australians with Deep Aboriginal Ancestry
Australia was probably settled soon after modern humans left Africa, but details of this ancient migration are not well understood. Debate centers on whether the Pleistocene Sahul continent (composed of New Guinea, Australia, and Tasmania) was first settled by a single wave followed by regional divergence into Aboriginal Australian and New Guinean populations (common origin) or whether different parts of the continent were initially populated independently. Australia has been the subject of relatively few DNA studies even though understanding regional variation in genomic structure and diversity will be important if disease-association mapping methods are to be successfully evaluated and applied across populations. We report on a genome-wide investigation of Australian Aboriginal SNP diversity in a sample of participants from the Riverine region. The phylogenetic relationship of these Aboriginal Australians to a range of other global populations demonstrates a deep common origin with Papuan New Guineans and Melanesians, with little evidence of substantial later migration until the very recent arrival of European colonists. The study provides valuable and robust insights into an early and important phase of human colonization of the globe. A broader survey of Australia, including diverse geographic sample populations, will be required to fully appreciate the continent's unique population history and consequent genetic heritage, as well as the importance of both to the understanding of health issues
Giving it a burl: towards the integration of genetics, isotope chemistry, and osteoarchaeology in Cape York, Tropical North Queensland, Australia
In this paper we outline a worked example of the combined use of genetic data and archaeological evidence. The project focuses on Queensland’s Cape York Peninsula and has two goals. One is to shed new light on the population history of the region. The other is to develop a methodology to facilitate repatriation of the remains of Aboriginal Australians. After providing some background to the project and outlining its main activities, we summarize our key findings to date. Subsequently, we discuss what the project has taught us about the prehistory of Cape York, the potential for DNA research and isotope chemistry to assist research institutions and Aboriginal communities with the repatriation of unaffiliated remains, and the process of conducting combined genetic and archaeological research
Aboriginal Australian mitochondrial genome variation – an increased understanding of population antiquity and diversity
Aboriginal Australians represent one of the oldest continuous cultures outside Africa, with evidence indicating that their ancestors arrived in the ancient landmass of Sahul (present-day New Guinea and Australia) ~55 thousand years ago. Genetic studies, though limited, have demonstrated both the uniqueness and antiquity of Aboriginal Australian genomes. We have further resolved known Aboriginal Australian mitochondrial haplogroups and discovered novel indigenous lineages by sequencing the mitogenomes of 127 contemporary Aboriginal Australians. In particular, the more common haplogroups observed in our dataset included M42a, M42c, S, P5 and P12, followed by rarer haplogroups M15, M16, N13, O, P3, P6 and P8. We propose some major phylogenetic rearrangements, such as in haplogroup P where we delinked P4a and P4b and redefined them as P4 (New Guinean) and P11 (Australian), respectively. Haplogroup P2b was identified as a novel clade potentially restricted to Torres Strait Islanders. Nearly all Aboriginal Australian mitochondrial haplogroups detected appear to be ancient, with no evidence of later introgression during the Holocene. Our findings greatly increase knowledge about the geographic distribution and phylogenetic structure of mitochondrial lineages that have survived in contemporary descendants of Australia’s first settlers