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- Olsson, Mia, et al.
(författare)
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A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs
- 2011
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 7:3, s. e1001332-
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Tidskriftsartikel (refereegranskat)abstract
- Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain unexplained. A similar periodic fever syndrome is relatively frequent in the Chinese Shar-Pei breed of dogs. In the western world, Shar-Pei have been strongly selected for a distinctive thick and heavily folded skin. In this study, a mutation affecting both these traits was identified. Using genome-wide SNP analysis of Shar-Pei and other breeds, the strongest signal of a breed-specific selective sweep was located on chromosome 13. The same region also harbored the strongest genome-wide association (GWA) signal for susceptibility to the periodic fever syndrome (p(raw) = 2.3 x 10(-6), p(genome) = 0.01). Dense targeted resequencing revealed two partially overlapping duplications, 14.3 Kb and 16.1 Kb in size, unique to Shar-Pei and upstream of the Hyaluronic Acid Synthase 2 (HAS2) gene. HAS2 encodes the rate-limiting enzyme synthesizing hyaluronan (HA), a major component of the skin. HA is up-regulated and accumulates in the thickened skin of Shar-Pei. A high copy number of the 16.1 Kb duplication was associated with an increased expression of HAS2 as well as the periodic fever syndrome (p, < 0.0001). When fragmented, HA can act as a trigger of the innate immune system and stimulate sterile fever and inflammation. The strong selection for the skin phenotype therefore appears to enrich for a pleiotropic mutation predisposing these dogs to a periodic fever syndrome. The identification of HA as a major risk factor for this canine disease raises the potential of this glycosaminoglycan as a risk factor for human periodic fevers and as an important driver of chronic inflammation.
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| 2. |
- Persson, Martin, 1976, et al.
(författare)
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Trading Forests: Quantifying the Contribution of Global Commodity Markets to Emissions from Tropical Deforestation
- 2014
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- This paper aims to improve our understanding of how and where global supply-chains linkconsumers of agricultural and forest commodities across the world to forest destruction in tropicalcountries. A better understanding of these linkages can help inform and support the design ofdemand-side interventions to reduce tropical deforestation. To that end, we map the link betweendeforestation for four commodities (beef, soybeans, palm oil, and wood products) in eight casecountries (Argentina, Bolivia, Brazil, Paraguay, Democratic Republic of the Congo, Indonesia,Malaysia, and Papua New Guinea) to consumption, through international trade. Although few,the studied countries comprise a large share of the internationally traded volumes of the analyzedcommodities: 83% of beef and 99% of soybean exports from Latin America, 97% of global palmoil exports, and roughly half of (official) tropical wood products trade. The analysis covers theperiod 2000-2009. We find that roughly a third of tropical deforestation and associated carbonemissions (3.9 Mha and 1.7 GtCO2) in 2009 can be attributed to our four case commodities in oureight case countries. On average a third of analyzed deforestation was embodied in agriculturalexports, mainly to the EU and China. However, in all countries but Bolivia and Brazil, exportmarkets are dominant drivers of forest clearing for our case commodities. If one excludes Brazilianbeef on average 57% of deforestation attributed to our case commodities was embodied in exports.The share of emissions that was embodied in exported commodities increased between 2000 and2009 for every country in our study except Bolivia and Malaysia.
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