A Non-Synonymous HMGA2 Variant Decreases Height in Shetland Ponies and Other Small Horses

The identification of quantitative trait loci (QTL) such as height and their underlying causative variants is still challenging and often requires large sample sizes. In humans hundreds of loci with small effects control the heritable portion of height variability. In domestic animals, typically only a few loci with comparatively large effects explain a major fraction of the heritability. We investigated height at withers in Shetland ponies and mapped a QTL to ECA 6 by genome-wide association (GWAS) using a small cohort of only 48 animals and the Illumina equine SNP70 BeadChip. Fine-mapping revealed a shared haplotype block of 793 kb in small Shetland ponies. The HMGA2 gene, known to be associated with height in horses and many other species, was located in the associated haplotype. After closing a gap in the equine reference genome we identified a non-synonymous variant in the first exon of HMGA2 in small Shetland ponies. The variant was predicted to affect the functionally important first AT-hook DNA binding domain of the HMGA2 protein (c.83G>A; p.G28E). We assessed the functional impact and found impaired DNA binding of a peptide with the mutant sequence in an electrophoretic mobility shift assay. This suggests that the HMGA2 variant also affects DNA binding in vivo and thus leads to reduced growth and a smaller stature in Shetland ponies. The identified HMGA2 variant also segregates in several other pony breeds but was not found in regular-sized horse breeds. We therefore conclude that we identified a quantitative trait nucleotide for height in horses.

Selection signatures in Shetland ponies.

Shetland ponies were selected for numerous traits including small stature, strength, hardiness and longevity. Despite the different selection criteria, Shetland ponies are well known for their small stature. We performed a selection signature analysis including genome-wide SNPs of 75 Shetland ponies and 76 large-sized horses. Based upon this dataset, we identified a selection signature on equine chromosome (ECA) 1 between 103.8 Mb and 108.5 Mb. A total of 33 annotated genes are located within this interval including the IGF1R gene at 104.2 Mb and the ADAMTS17 gene at 105.4 Mb. These two genes are well known to have a major impact on body height in numerous species including humans. Homozygosity mapping in the Shetland ponies identified a region with increased homozygosity between 107.4 Mb and 108.5 Mb. None of the annotated genes in this region have so far been associated with height. Thus, we cannot exclude the possibility that the identified selection signature on ECA1 is associated with some trait other than height, for which Shetland ponies were selected.

Granulometry of two sediment cores from Maxwell Bay, South Shetland Islands, West Antarctica

The climate evolution of the South Shetland Islands during the last c. 2000 years is inferred from the multiproxy analyses of a long (928 cm) sediment core retrieved from Maxwell Bay off King George Island. The vertical sediment flux at the core location is controlled by summer melting processes that cause sediment-laden meltwater plumes to form. These leave a characteristic signature in the sediments of NE Maxwell Bay. We use this signature to distinguish summer and winter-dominated periods. During the Medieval Warm Period, sediments are generally finer which indicates summer-type conditions. In contrast, during the Little Ice Age (LIA) sediments are generally coarser and are indicative of winter-dominated conditions. Comparison with Northern and Southern Hemisphere, Antarctic, and global temperature reconstructions reveals that the mean grain-size curve from Maxwell Bay closely resembles the curve of the global temperature reconstruction. We show that the medieval warming occurred earlier in the Southern than in the Northern Hemisphere, which might indicate that the warming was driven by processes occurring in the south. The beginning of the LIA appears to be almost synchronous in both hemispheres. The warming after the LIA closely resembles the Northern Hemisphere record which might indicate this phase of cooling was driven by processes occurring in the north. Although the recent rapid regional warming is clearly visible, the Maxwell Bay record does not show the dominance of summer-type sediments until the 1970s. Continued warming in this area will likely affect the marine ecosystem through meltwater induced turbidity of the surface waters as well as an extension of the vegetation period due to the predicted decrease of sea ice in this area.

Concentrations of persistant organic pollutants in Great skua eggs (Stercorarius skua) from Shetland 1980 and 2008

Concentrations of POPs in Great skua eggs from Shetland are among the highest in North Atlantic seabirds, with up to 11,600 µg/kg (ww) DDE and up to 17,900 µg/kg ww SumPCB. Concentrations of legacy POPs were significantly lower in 2008 than 1980. Decreases were greatest for least persistent compounds. Median SumPBDEs increased from 99 µg/kg ww in 1980 to 173 µg/kg ww in 2008. There were changes in Great skua breeding season diet, with more adult Herring and Mackerel and less Sandeel. These changes increase exposure to POPs, since Herring and Mackerel accumulate more POPs than Sandeels. In both years, eggs with higher d15N had higher POP concentrations. In 1980, birds feeding more on demersal discard fish from trawl fisheries and less on Sandeels, had higher POP levels in eggs. In 2008, individuals feeding more on Herring and Mackerel, and less on discards, had higher POP levels in eggs.

Radar profiles from South Shetland Islands/Western Antarctic Peninsula

The sedimentary architecture of polar gravel-beach ridges is presented and it is shown that ridge internal geometries reflect past wave-climate conditions. Ground-penetrating radar (GPR) data obtained along the coasts of Potter Peninsula (King George Island) show that beach ridges unconformably overlie the prograding strand plain. Development of individual ridges is seen to result from multiple storms in periods of increased storm-wave impact on the coast. Strand-plain progradation, by contrast, is the result of swash sedimentation at the beach-face under persistent calm conditions. The sedimentary architecture of beach ridges in sheltered parts of the coast is characterized by seaward-dipping prograding beds, being the result of swash deposition under stormy conditions, or aggrading beds formed by wave overtopping. By contrast, ridges exposed to high-energy waves are composed of seaward- as well as landward-dipping strata, bundled by numerous erosional unconformities. These erosional unconformities are the result of sediment starvation or partial reworking of ridge material during exceptional strong storms. The number of individual ridges which are preserved from a given time interval varies along the coast depending on the morphodynamic setting: sheltered coasts are characterized by numerous small ridges, whereas fewer but larger ridges develop on exposed beaches. The frequency of ridge building ranges from decades in the low-energy settings up to 1600 years under high-energy conditions. Beach ridges in the study area cluster at 9.5, 7.5, 5.5, and below 3.5 m above the present-day storm beach. Based on radiocarbon data, this is interpreted to reflect distinct periods of increased storminess and/or shortened annual sea-ice coverage in the area of the South Shetland Islands for the times around 4.3, c. 3.1, 1.9 ka cal BP, and after 0.65 ka cal BP. Ages further indicate that even ridges at higher elevations can be subject to later reactivation and reworking. A careful investigation of the stratigraphic architecture is therefore essential prior to sampling for dating purposes.

Integrated topographic database for King George Island, South Shetland Islands, with links to shapefiles

SCAR KGIS (SCAR King George Island GIS Project) was an integrated topographic database for King George Island, South Shetland Islands, including the SCAR Feature Catalogue to semantically integrate the data sets. The project, operated by the University of Freiburg, was available at http://portal.uni-freiburg.de/AntSDI as "The Antarctic Spatial Data Infrastructure (AntSDI)". Operation ended in 2007. The remaining data files were archived in shape format (zipped) in projections as recommended by SCAR. The source data was provided by a variety of institutions which were not referenced in the original product.

Shetland Islands, United Kingdom, Nautical Chart, 1788 (Raster Image)

This layer is a georeferenced raster image of the historic paper map entitled: A new hydrographical survey of the islands of Shetland : with many improvements and additions, and the sailing directions, by Captn. Thomas Preston. It was printed for Robert Sayer, chartseller No. 63 Fleet Street 1st. Jany., 1788. Scale [ca. 1:419,830].The image inside the map neatline is georeferenced to the surface of the earth and fit to the European Datum 1950, Universal Transverse Mercator (UTM) Zone 30N projected coordinate system. All map collar and inset information is also available as part of the raster image, including any inset maps, profiles, statistical tables, directories, text, illustrations, index maps, legends, or other information associated with the principal map. This map shows features such as rocks, channels, points, ports, coves, islands, anchorage points, and more. Includes also selected land features such as towns and villages, drainage, selected buildings, and more. Relief shown by hachures; depths shown by soundings. Includes also profile views, navigational notes, and insets: Directions for Valey Sound -- The Isles of Feroe. This layer is part of a selection of digitally scanned and georeferenced historic maps from the Harvard Map Collection. These maps typically portray both natural and manmade features. The selection represents a range of originators, ground condition dates, scales, and map purposes.