Publications by authors named "Anna L Gosling"

11 Publications

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Ancient and modern mitogenomes from Central Argentina: new insights into population continuity, temporal depth and migration in South America.

Hum Mol Genet 2021 Apr 15. Epub 2021 Apr 15.

Universidad Nacional de Córdoba, Facultad de Filosofía y Humanidades, Departamento de Antropología, Córdoba, Argentina.

The inverted triangle shape of South America places Argentina territory as a geographical crossroads between the two principal peopling streams that followed either the Pacific or the Atlantic coasts, which could have then merged in Central Argentina. Although the genetic diversity from this region is therefore crucial to decipher past population movements in South America, its characterization has been overlooked so far. We report 92 modern and 22 ancient mitogenomes spanning a temporal range of 5000 years, which were compared to a large set of previously reported data. Leveraging this dataset representative of the mitochondrial diversity of the subcontinent, we investigate the maternal history of Central Argentina populations within a wider geographical context. We describe a large number of novel clades within the mitochondrial DNA tree, thus providing new phylogenetic interpretations for South America. We also identify several local clades of great temporal depth with continuity until present that stem directly from the founder haplotypes, suggesting that they originated in the region and expanded from there. Moreover, the presence of lineages characteristic of other South American regions reveals the existence of gene flow to Central Argentina. Finally, we report some lineages with discontinuous distribution across the Americas, which suggest the persistence of relic lineages likely linked to the first population arrivals. The present study represents to date the most exhaustive attempt to elaborate a Native American genetic map from modern and ancient complete mitochondrial genomes in Argentina and provides relevant information about the general process of settlement in South America.
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http://dx.doi.org/10.1093/hmg/ddab105DOI Listing
April 2021

Gout.

Lancet 2021 Mar 30. Epub 2021 Mar 30.

Academic Rheumatology, School of Medicine, University of Nottingham, Nottingham, UK; Nottingham National Institute for Health Research Biomedical Research Centre, Nottingham, UK.

Gout is a common and treatable disease caused by the deposition of monosodium urate crystals in articular and non-articular structures. Increased concentration of serum urate (hyperuricaemia) is the most important risk factor for the development of gout. Serum urate is regulated by urate transporters in the kidney and gut, particularly GLUT9 (SLC2A9), URAT1 (SLC22A12), and ABCG2. Activation of the NLRP3 inflammasome by monosodium urate crystals with release of IL-1β plays a major role in the initiation of the gout flare; aggregated neutrophil extracellular traps are important in the resolution phase. Although presenting as an intermittent flaring condition, gout is a chronic disease. Long-term urate lowering therapy (eg, allopurinol) leads to the dissolution of monosodium urate crystals, ultimately resulting in the prevention of gout flares and tophi and in improved quality of life. Strategies such as nurse-led care are effective in delivering high-quality gout care and lead to major improvements in patient outcomes.
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http://dx.doi.org/10.1016/S0140-6736(21)00569-9DOI Listing
March 2021

Systematic Ancient DNA Species Identification Fails to Find Late Holocene Domesticated Cattle in Southern Africa.

Biology (Basel) 2020 Sep 30;9(10). Epub 2020 Sep 30.

Department of Anatomy, University of Otago, Dunedin 9016, New Zealand.

Establishing robust temporal control of the arrival of domesticated stock and the associated husbandry skills and lifeways in Southern Africa remains frustrated by the osteological similarities between domestic stock and wild endemic fauna. We report the results of a systematic ancient DNA survey of appropriately sized bovid remains from Later Stone Age deposits in four South African archaeological sites. We show that none of the tested remains originated in domesticated cattle. The precise date of arrival of domestic cattle in the region awaits further study, although we also report new radiocarbon determinations which further refine the local chronology.
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http://dx.doi.org/10.3390/biology9100316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7600501PMC
September 2020

Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control.

Hum Mol Genet 2020 04;29(6):923-943

Department of Biochemistry, School of Biomedical Sciences, University of Otago, Dunedin, New Zealand.

High serum urate is a prerequisite for gout and associated with metabolic disease. Genome-wide association studies (GWAS) have reported dozens of loci associated with serum urate control; however, there has been little progress in understanding the molecular basis of the associated loci. Here, we employed trans-ancestral meta-analysis using data from European and East Asian populations to identify 10 new loci for serum urate levels. Genome-wide colocalization with cis-expression quantitative trait loci (eQTL) identified a further five new candidate loci. By cis- and trans-eQTL colocalization analysis, we identified 34 and 20 genes, respectively, where the causal eQTL variant has a high likelihood that it is shared with the serum urate-associated locus. One new locus identified was SLC22A9 that encodes organic anion transporter 7 (OAT7). We demonstrate that OAT7 is a very weak urate-butyrate exchanger. Newly implicated genes identified in the eQTL analysis include those encoding proteins that make up the dystrophin complex, a scaffold for signaling proteins and transporters at the cell membrane; MLXIP that, with the previously identified MLXIPL, is a transcription factor that may regulate serum urate via the pentose-phosphate pathway and MRPS7 and IDH2 that encode proteins necessary for mitochondrial function. Functional fine mapping identified six loci (RREB1, INHBC, HLF, UBE2Q2, SFMBT1 and HNF4G) with colocalized eQTL containing putative causal SNPs. This systematic analysis of serum urate GWAS loci identified candidate causal genes at 24 loci and a network of previously unidentified genes likely involved in control of serum urate levels, further illuminating the molecular mechanisms of urate control.
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http://dx.doi.org/10.1093/hmg/ddaa013DOI Listing
April 2020

The evolutionary history and human settlement of Australia and the Pacific.

Curr Opin Genet Dev 2018 12 18;53:53-59. Epub 2018 Jul 18.

Department of Anatomy, University of Otago, Dunedin, New Zealand. Electronic address:

Understanding the timing and processes involved in the human settlement of Australia and the Pacific has significance for addressing some key debates relating to human origins and population expansions worldwide. Despite this, for many years, Pacific populations were seriously under-represented in genetic studies of human origins. The last 15 years, however, have seen some major genetic studies involving Australian and Pacific populations which have shed light on their origins and interactions, and the last five years have seen some major developments that are challenging long-held concepts of Pacific settlement.
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http://dx.doi.org/10.1016/j.gde.2018.06.015DOI Listing
December 2018

Walking backwards into the future: the need for a holistic evolutionary approach in Pacific health research.

Ann Hum Biol 2018 May;45(3):175-187

a Department of Anatomy , University of Otago , Dunedin , New Zealand.

Context: The Pacific region has had a complex human history. It has been subject to multiple major human dispersal and colonisation events, including some of the earliest Out-of-Africa migrations, the so-called Austronesian expansion of people out of Island Southeast Asia, and the more recent arrival of Europeans. Despite models of island isolation, evidence suggests significant levels of interconnectedness that vary in direction and frequency over time. The Pacific Ocean covers a vast area and its islands provide an array of different physical environments with variable pathogen loads and subsistence opportunities. These diverse environments likely caused Pacific peoples to adapt (both genetically and culturally) in unique ways. Differences in genetic background, in combination with adaptation, likely affect their susceptibility to non-communicable diseases.

Objectives: Here we provide an overview of some of the key issues in the natural and human history of the Pacific region which are likely to impact human health. We argue that understanding the evolutionary and cultural history of Pacific peoples is essential for the generation of testable hypotheses surrounding potential causes of elevated disease susceptibility among Pacific peoples.
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http://dx.doi.org/10.1080/03014460.2018.1448889DOI Listing
May 2018

Mitochondrial genetic variation and gout in Māori and Pacific people living in Aotearoa New Zealand.

Ann Rheum Dis 2018 04 15;77(4):571-578. Epub 2017 Dec 15.

Department of Biochemistry, University of Otago, Dunedin, New Zealand.

Objective: Mitochondria have an important role in the induction of the NLRP3 inflammasome response central in gout. The objective was to test whether mitochondrial genetic variation and copy number in New Zealand Māori and Pacific (Polynesian) people in Aotearoa New Zealand associate with susceptibility to gout.

Methods: 437 whole mitochondrial genomes from Māori and Pacific people (predominantly men) from Aotearoa New Zealand (327 people with gout, 110 without gout) were sequenced. Mitochondrial DNA copy number variation was determined by assessing relative read depth using data produced from whole genome sequencing (32 cases, 43 controls) and targeted resequencing of urate loci (151 cases, 222 controls). Quantitative PCR was undertaken for replication of copy number findings in an extended sample set of 1159 Māori and Pacific men and women (612 cases, 547 controls).

Results: There was relatively little mitochondrial genetic diversity, with around 96% of those sequenced in this study belonging to the B4a1a and derived sublineages. A B haplogroup heteroplasmy in hypervariable region I was found to associate with a higher risk of gout among the mitochondrial sequenced sample set (position 16181: OR=1.57, P0.001). Increased copies of mitochondrial DNA were found to protect against gout risk with the effect being consistent when using hyperuricaemic controls across each of the three independent sample sets (OR=0.89, P=0.007; OR=0.90, P=0.002; OR=0.76, P0.03). Paradoxically, an increase of mitochondrial DNA also associated with an increase in gout flare frequency in people with gout in the two larger sample sets used for the copy number analysis (β=0.003, P=7.1×10; β=0.08, P=1.2×10).

Conclusion: Association of reduced copy number with gout in hyperuricaemia was replicated over three Polynesian sample sets. Our data are consistent with emerging research showing that mitochondria are important for the colocalisation of the NLRP3 and ASC inflammasome subunits, a process essential for the generation of interleukin-1β in gout.
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http://dx.doi.org/10.1136/annrheumdis-2017-212416DOI Listing
April 2018

A European Mitochondrial Haplotype Identified in Ancient Phoenician Remains from Carthage, North Africa.

PLoS One 2016 25;11(5):e0155046. Epub 2016 May 25.

School of Medicine, Lebanese American University, Byblos, Lebanon.

While Phoenician culture and trade networks had a significant impact on Western civilizations, we know little about the Phoenicians themselves. In 1994, a Punic burial crypt was discovered on Byrsa Hill, near the entry to the National Museum of Carthage in Tunisia. Inside this crypt were the remains of a young man along with a range of burial goods, all dating to the late 6th century BCE. Here we describe the complete mitochondrial genome recovered from the Young Man of Byrsa and identify that he carried a rare European haplogroup, likely linking his maternal ancestry to Phoenician influenced locations somewhere on the North Mediterranean coast, the islands of the Mediterranean or the Iberian Peninsula. This result not only provides the first direct ancient DNA evidence of a Phoenician individual but the earliest evidence of a European mitochondrial haplogroup, U5b2c1, in North Africa.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0155046PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880306PMC
July 2017

Pacific Populations, Metabolic Disease and 'Just-So Stories': A Critique of the 'Thrifty Genotype' Hypothesis in Oceania.

Ann Hum Genet 2015 Nov 29;79(6):470-80. Epub 2015 Sep 29.

Department of Biochemistry, University of Otago, Dunedin, New Zealand.

Pacific populations have long been observed to suffer a high burden of metabolic disease, including obesity, type 2 diabetes and gout. The 'Thrifty Genotype' hypothesis has frequently been used to explain this high prevalence of disease. Here, the 'Thrifty Genotype' hypothesis and the evolutionary background of Pacific populations are examined. We question its relevance not only in the Pacific region but more generally. Not only has the hypothesis not been explicitly tested, but most archaeological and anthropological data from the Pacific fundamentally do not support its application.
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http://dx.doi.org/10.1111/ahg.12132DOI Listing
November 2015

Hyperuricaemia in the Pacific: why the elevated serum urate levels?

Rheumatol Int 2014 Jun 31;34(6):743-57. Epub 2013 Dec 31.

Department of Anatomy, Allan Wilson Centre for Molecular Ecology and Evolution, University of Otago, PO Box 913, Dunedin, New Zealand,

Pacific Island populations, particularly those of Polynesian descent, have a high prevalence of hyperuricaemia and gout. This is due to an inherently higher urate level among these populations with a demonstrated genetic predisposition. While an excess of urate can cause pathology, urate is also important for human health. It has been implicated as an antioxidant, has a neuroprotective role and is involved in innate immune responses. This paper provides a brief review of urate levels worldwide, with a particular focus on island Southeast Asia and the Pacific. We then present possible evolutionary explanations for the elevated serum urate levels among Pacific populations in the context of the physiological importance of urate and of the settlement history of the region. Finally, we propose that ancestry may play a significant role in hyperuricaemia in these populations and that exposure to malaria prior to population expansion into the wider Pacific may have driven genetic selection for variants contributing to high serum urate.
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http://dx.doi.org/10.1007/s00296-013-2922-xDOI Listing
June 2014

Gout in Māori.

Rheumatology (Oxford) 2014 May 24;53(5):773-4. Epub 2013 Sep 24.

Department of Anatomy, University of Otago, 913 Dunedin, 9054 New Zealand.

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http://dx.doi.org/10.1093/rheumatology/ket299DOI Listing
May 2014