Comparison of intraspecific genetic structure among related chironomids (Diptera) from New Zealand and Patagonia : disparity between potential and realized dispersal

Population genetic studies of freshwater invertebrate taxa in New Zealand and South America are currently few despite the geologically and climatically dynamic histories of these regions. The focus of our study was a comparison of the influence on realized dispersal of 2 closely related nonbiting midges (Chironomidae) of population fragmentation on these separated austral land masses. We used a 734-base pair (bp) fragment of cytochrome c oxidase subunit I (COI) to investigate intraspecific genetic structure in Naonella forsythi Boothroyd in New Zealand and Ferringtonia patagonica Edwards in Patagonia. We proposed hypotheses about their potential dispersal and, hence, expected patterns of genetic structure in these 2 species based on published patterns for the closely related Australian taxon Echinocladius martini Cranston. Genetic structure revealed for both N. forsythi and F. patagonica was characterized by several highly divergent (2.0–10.5%) lineages of late Miocene–Pliocene age within each taxon that were not geographically localized. Many were distributed widely. This pattern differed greatly from population structure in E. martini, which was typified by much greater endemicity of divergent genetic lineages. Nevertheless, diversification of lineages in all 3 taxa appeared to be temporally congruent with the onset of late Miocene glaciations in the southern hemisphere that may have driven fragmentation of suitable habitat, promoting isolation of populations and divergence in allopatry. We argue that differences in realized dispersal post-isolation may be the result of differing availability of suitable habitat in interglacial periods.

Having the last word? Will making and contestation in Australia

Increased longevity and the need to fund living and care expenses across late old age, greater proportions of blended and culturally diverse families and concerns about the increasing possibility of contestation of wills highlight the importance of understanding current will making practices and intentions. Yet, there is no current national data on the prevalence of wills, intended beneficiaries, the principles and practices surrounding will making and the patterns and outcomes of contestation. This project sought to address this gap. This report summarises the results of a four year program of research examining will making and will contestation in Australia. The project was funded by the Australian Research Council (LP10200891) in conjunction with seven Public Trustee Organisations across Australia. The interdisciplinary research team with expertise in social science, social work, law and social policy are from The University of Queensland, Queensland University of Technology and Victoria University. The project comprised five research studies: a national prevalence survey, a judicial case review, a review of Public Trustee files, an online survey of will drafters and in-depth interviews with key groups of interest. The report outlines key findings. On the basis of the evidence provided recommendations are presented to support the achievement of these policy goals: increasing will making in the Australian population, ensuring that the wills of those Australians who have taken this step reflect their current situation and intentions, and reducing will contestation.

Environmental change and anthropogenic impact on lake sediments during the Holocene in the Finnish - Karelian inland area

This thesis discusses the prehistoric human disturbance during the Holocene by means of case studies using detailed high-resolution pollen analysis from lake sediment. The four lakes studied are situated between 61o 40' and 61o 50' latitudes in the Finnish Karelian inland area and vary between 2.4 and 28.8 ha in size. The existence of Early Metal Age population was one important question. Another study question concerned the development of grazing, and the relationship between slash-and-burn cultivation and permanent field cultivation. The results were presented as pollen percentages and pollen concentrations (grains cm 3). Accumulation values (grains cm 2 yr 1) were calculated for Lake Nautajärvi and Lake Orijärvi sediment, where the sediment accumulation rate was precisely determined. Sediment properties were determined using loss-on-ignition (LOI) and magnetic susceptibility (k). Dating methods used include both conventional and AMS 14C determinations, paleomagnetic dating and varve choronology. The isolation of Lake Kirjavalampi on the northern shore of Lake Ladoga took place ca. 1460 1300 BC. The long sediment cores from Finland, Lake Kirkkolampi and Lake Orijärvi in southeastern Finland and Lake Nautajärvi in south central Finland all extended back to the Early Holocene and were isolated from the Baltic basin ca. 9600 BC, 8600 BC and 7675 BC, respectively. In the long sediment cores, the expansion of Alnus was visible between 7200 - 6840 BC. The spread of Tilia was dated in Lake Kirkkolampi to 6600 BC, in Lake Orijärvi to 5000 BC and at Lake Nautajärvi to 4600 BC. Picea is present locally in Lake Kirkkolampi from 4340 BC, in Lake Orijärvi from 6520 BC and in Lake Nautajärvi from 3500 BC onwards. The first modifications in the pollen data, apparently connected to anthropogenic impacts, were dated to the beginning of the Early Metal Period, 1880 1600 BC. Anthropogenic activity became clear in all the study sites by the end of the Early Metal Period, between 500 BC AD 300. According to Secale pollen, slash-and-burn cultivation was practised around the eastern study lakes from AD 300 600 onwards, and at the study site in central Finland from AD 880 onwards. The overall human impact, however, remained low in the studied sites until the Late Iron Age. Increasing human activity, including an increase in fire frequency was detected from AD 800 900 onwards in the study sites in eastern Finland. In Lake Kirkkolampi, this included cultivation on permanent fields, but in Lake Orijärvi, permanent field cultivation became visible as late as AD 1220, even when the macrofossil data demonstrated the onset of cultivation on permanent fields as early as the 7th century AD. On the northern shore of Lake Ladoga, local activity became visible from ca. AD 1260 onwards and at Lake Nautajärvi, sediment the local occupation was traceable from 1420 AD onwards. The highest values of Secale pollen were recorded both in Lake Orijärvi and Lake Kirjavalampi between ca. AD 1700 1900, and could be associated with the most intensive period of slash-and-burn from AD 1750 to 1850 in eastern Finland.

Cattle Teeth in Graves : Interpretations of animal bones found in Finnish inhumation graves (ca AD 550-1700)

The nature of a burial is always ritualistic. This is often forgotten when dealing with Finnish inhumation burials containing animal bones. Only the animal bones found close to the deceased have traditionally been thought to have a ritualistic purpose. The animal bones found in the filling of the grave, which is still part of the burial, has on the other hand, often been neglected in the previous research. In this Master s thesis I will discuss the function and interpretation of animal bones in graves. The base of this study is six sites, all of different nature, from Finland. Luistari in Eura is from the western coast and is dated to Late Iron Age (and possibly Medieval period), the Medieval hamlet of Finno is situated in Espoo which is situated on the southern coast. Two town burials, Turku and Porvoo, are also included in this study. The graves from Turku are dated to Late Medieval period and Early Renaissance, whereas the cemetery in Porvoo is from the 18th century. Visulahti in Mikkeli is from the Late Iron Age and represents Eastern Finnish burial tradition, the same as Suotniemi from Käkisalmi parish, which is nowadays part of Russia. While parts of the animal bones had already been analysed before, the author also analysed animal bones for the purpose of the present Master´s thesis. The bones were compared to the burial contexts, when possible. Based on the comparisons I have made interpretations which might explain the existence of animal bones in the graves. The interpretations are among others sacrifice, commemoration meals and animal burials. The site could also have been a settlement site prior to the graves, thus the bones in the graves would belong to the settlement phase. When comparing the date of the studied sites, the town burials are later and the animal bones are probably related to previous or contemporary use of the sites as graveyards. On top of this there does not seem to be much difference in burial tradition between Eastern and Western Finland, although at least from the hamlet burials of Finno there are aspects that could be linked to Eastern burials. In making the interpretations I have taken into consideration the aspects of belief during different time periods when they could be accounted as relevant. Also the problems with bone preservation were relevant and challenging for the study. Often only the hardest substance of the skeleton, namely teeth, has been preserved. For this reason the quality of the archaeological documentation was a key issue in this study. In producing quality interpretations of the animal bones in graves, the bones, contexts and their relationship to the surrounding site should be documented with care.

Suelo de ocupación magdaleniense en la cueva de Praile Aitz I (Deba, Gipuzkoa): evidencias de arte mobiliar

[ES] La reciente excavación de la cueva de Praile Aitz I (Deba) ha identificado sucesivas breves ocupaciones del Tardiglaciar. Se estudian los materiales arqueológicos más significativos del Magdaleniense Inferior recuperados sobre un suelo preparado con cantitos de caliza. En él se localizaron, además de restos industriales líticos y faunísticos que no trataremos en esta ocasión, las siguientes evidencias: una azagaya, restos de ocre y un interesante lote de colgantes (cuatro cantos rodados perforados y tres incisivos de cabra con doble perforación).

Ancient DNA from South-East Europe Reveals Different Events during Early and Middle Neolithic Influencing the European Genetic Heritage

The importance of the process of Neolithization for the genetic make-up of European populations has been hotly debated, with shifting hypotheses from a demic diffusion (DD) to a cultural diffusion (CD) model. In this regard, ancient DNA data from the Balkan Peninsula, which is an important source of information to assess the process of Neolithization in Europe, is however missing. In the present study we show genetic information on ancient populations of the South-East of Europe. We assessed mtDNA from ten sites from the current territory of Romania, spanning a time-period from the Early Neolithic to the Late Bronze Age. mtDNA data from Early Neolithic farmers of the Starcevo Cris culture in Romania (Carcea, Gura Baciului and Negrilesti sites), confirm their genetic relationship with those of the LBK culture (Linienbandkeramik Kultur) in Central Europe, and they show little genetic continuity with modern European populations. On the other hand, populations of the Middle-Late Neolithic (Boian, Zau and Gumelnita cultures), supposedly a second wave of Neolithic migration from Anatolia, had a much stronger effect on the genetic heritage of the European populations. In contrast, we find a smaller contribution of Late Bronze Age migrations to the genetic composition of Europeans. Based on these findings, we propose that permeation of mtDNA lineages from a second wave of Middle-Late Neolithic migration from North-West Anatolia into the Balkan Peninsula and Central Europe represent an important contribution to the genetic shift between Early and Late Neolithic populations in Europe, and consequently to the genetic make-up of modern European populations.

中国晚泥盆世两种木本石松植物的研究

木本石松植物在晚古生代植物群中一直引人注目，它们是最早在中、晚泥盆世发展乔木和异孢习性的陆生维管植物谱系之一。在这篇报告中，中国两种晚泥盆世（距今约354-370百万年）的木本石松植物被详细地研究了。这两项研究增进了我们对泥盆纪木本石松植物的进化发育生物学的认识。 作者从中国西北部新疆准噶尔盆地上泥盆统的地层中描述了一个新种新疆鳞孢穗Lepidostrobus xinjiangensis sp.nov.，它为我们研究晚泥盆世石松植物的生殖分化和系统发育关系提供了新的认识。这个孢子叶球不同于任何草本石松植物的生殖器官，而与木本石松植物的生殖器官更为相似，它符合鳞孢穗属Lepidostrobus的鉴别性状。它的每个孢子叶由一个楔形的叶柄和一个三角形的叶片构成。孢子叶水平地着生在穗轴上，呈低角度的螺旋排列。叶柄具有侧翼和一个远轴面的脊，其远端延伸为一个上翻的叶片和一个下翻的踵，形成了一种盾状的外貌。孢子囊呈辐向加长、背腹扁的卵球形，具有顶端的纵向开裂。每个孢子囊基部纵向着生在叶柄的近轴面上。在孢子囊中发现了一个柱状的亚孢原组织垫。一个可能的叶舌出现在叶柄近轴面靠孢子囊远端。这个生殖器官是一个小孢子叶球，含石松孢Lycospora型孢子，具有粒状纹饰和赤道凸缘。基于这个鳞孢穗新种，木本石松植物从泥盆纪到石炭纪以来的生殖分化和演化式样在一个系统发育的框架中被讨论了。作者提出，木本石松植物由两性孢子叶球和单孢子叶球所代表的生殖策略到了晚泥盆世已经发展得相当完备，这暗示着系统发育上生有鳞孢穗孢子叶球的木本石松植物比过去所认为得起源要早。 作者重新调查了一个过去描述于中国湖北晚泥盆世（弗拉斯期）黄家磴组地层中的斜方薄皮木Leptophloeum thombicum的树干，并提出关于这个木本石松植物生长结构的新观点。这个树干保存为压扁的硅化化石，具有不均匀渗矿化的初生维管组织和螺旋排列的斜方形叶座。叶座特征符合晚泥盆世广泛分布的植物斜方薄皮木Leptophloeum rhombicum Dawson的鉴别性状。分类上，斜方薄皮木被归入薄皮木科Leptophloeaceae和广义水韭目Isoetales s.l.。这个树干在不同水平的解剖特征证明，斜方薄皮木的个体发育可能符合一种有限的生长方式。结合过去的资料和当前的生长结构分析，作者提出斜方薄皮木具有假单轴分枝的习性，而不是过去所认为的那样长着等二叉分枝的树冠。作者重新复原了这个植物的总体生长形态，它由一个根座式根状茎、一个主干和侧枝三类主要的生长结构单元构成。当这些结果组合了近期的系统发育工作后，它表明斜方薄皮木已经发育了与一些晚泥盆世法门期和石炭纪木本石松植物相似的生长结构，可能代表了早期水韭目植物祖先的生长结构类型之一。

俄罗斯远东和中国湖南晚泥盆世石松类的新发现

在现代的陆地植被当中，石松类为草本植物，在植物界中属于高等植物的低等部分。然而在陆地植物起源和发展演化的早期阶段，石松类是陆地植被的重要成分。石炭纪时期石松类处于最繁盛时期，多生长成为高大乔木，形成森林，是陆地植被的优势类群，也是主要的成煤植物。作为演化历史最长的陆地植物之一，石松类在泥盆纪时期就广泛分布于世界各地，泥盆纪成为石松类演化发展的一个非常重要的时期。研究泥盆纪石松类对认识石松类的起源和发展有重要意义。 本论文是作者在博士期间多个工作之中的两个内容，对采自俄罗斯远东地区的晚泥盆世石松类Haskinsia标本以及采自湖南醴陵的晚泥盆世石松类Lilingostrobus longifolius标本进行了研究。 我们在俄罗斯远东地区的标本中发现了具有三角形叶片的简单叶。泥盆纪石松类Haskinsia属的最典型特征就是其叶由叶柄和三角形或戟形的叶片组成。综合标本的其它特征我们将这些标本归入Haskinsia colophylla这个种中。俄罗斯学者曾在与我们相同的采集地点采集了相似的标本并将其命名为Pseudolepidodendron igrischense，经过仔细对比后我们认为俄罗斯学者的标本也应归并入H. colophylla。同时根据Haskinsia属分布于早泥盆世晚期至晚泥盆世早期的特点，我们对采集地点的地层时代进行了修订，认为其地层时代要比俄罗斯学者认为的晚泥盆世至早石炭世要早。 我们在标本中还首次发现了Haskinsia colophylla这个种的孢子囊。在此之前，Haskinsia 属内的H. colophylla和H. sagittata由于具有相类似的叶而被认为可能是同一个种。由于仅在H. sagittata中发现了孢子囊（椭圆形/卵形）而没有发现H. colophylla的生殖结构，无法确切地区分这两个种。我们在标本中发现了着生于孢子叶腹面的圆形孢子囊。这一发现使我们确认了H. colophylla与H. sagittata的区别，这两个种都是有效种。 我们还对采自湖南醴陵望仙桥水库剖面晚泥盆统岳麓山组地层的部分石松类标本进行了研究。该石松类被命名为Lilingostrobus longifolius。它为木本石松类，茎为二岐分枝，叶在茎上螺旋形排列，叶为长披针形，具有中脉。孢子叶球顶生，呈长锥形，顶端钝圆，孢子叶在孢子叶球上呈紧密的螺旋形排列，每轮约6-8枚。孢子叶分化为孢子叶梗和孢子叶片。孢子叶梗与穗轴近垂直，水平向外延伸后向上弯曲成孢子叶片，叶片至少长45mm，超过孢子叶球长度的一半，孢子叶片与营养叶同型。孢子囊长椭圆形，着生于孢子叶梗的上面。Lilingostrobus longifolius为异型孢子叶球，分为大孢子叶球和小孢子叶球。茎轴具有外始式的初生木质部以及呈放射状的次生木质部。管胞次生壁具有梯纹加厚，加厚的横棒之间有纵向的条状物，即“威廉姆森结构”。Lilingostrobus longifolius具有孢子叶分化明显的孢子叶球因而被归入广义的水韭目。根据其管胞类型和孢子叶球特点，我们认为其可能与Sublepidodendron属亲缘关系较近。 通过对Lilingostrobus longifolius的孢子叶球以及解剖特点的分析，我们认为它代表了晚泥盆世石松类中较为先进的一个类群，这种类群在石炭纪时期得到大规模发展。 结合晚泥盆世其他具有生殖结构的石松类，我们认为晚泥盆世时期石松类的生殖结构类型丰富多样，而且远比中泥盆世石松类生殖结构复杂。这个时期石松类的发展为其在石炭纪的进一步演化奠定了基础。同时，在这个时期石松类植物的叶舌与孢子类型关系中，包括四种类型，即不具叶舌产生单型孢子类型，不具叶舌产生异型孢子类型，具叶舌产生单型孢子类型以及具叶舌产生异型孢子类型。这与现代石松类仅具有两种类型即不具叶舌的类群孢子囊产生同型孢子，而具叶舌的类群孢子囊产生异型孢子有很大的差别。

湖南、广西泥盆纪硅岩地球化学与沉积构造背景

During the Devonian, a complicated carbonate platform-basin configuration was created through transtensional rifting in the context of opening of Devonian South China Sea; extensive bedded chert, commonly interbedded with tuffaceous beds, occurred in the narrow, elongate interplatform basins (or troughs) in South China, where they occurred earlier (Early Devonian) in southern Guangxi and later (early Late Devonian) in northern Guangxi-south central Hunan. In order to unravel the origin and distribution of the bedded chert successions, and their relationships to basement faulting activities during the opening of the Devonian South China Sea, studies of element (major, minor and REE) geochemistry and Rb-Sr, Sm-Nd isotopic systematics are carried out upon the chert deposits. These chert deposits commonly have high SiO2 contents and (average 94.01%) and low TFe2O3 (average 0.55%), together with other geochemical parameters, suggestive of both biogenic and hydrothermal origins. However, Fe/Ti ratio are high along the elongate interplatform basins(troughs) to the northwest along Wuxiangling-Zhaisha-Chengbu, and to the southeast along Xiaodong-Mugui-Xinpu, suggesting relatively intense hydrothermal activities there. They generally contain very low total REE contents (∑REE average 31.21ug/g) with mediate negative Ce anomalies (mean Ce/Ce*=0.83) and low Lan/Cen values (average 1.64), indicating an overall continental margin basin where they precipitated. The northward increases in Ce/Ce* values, particularly along the elongate troughs bounded both to the east and west of the Guangxi-Huanan rift basin, suggest a northward enhancement of terrigenous influences, thereby reflecting a gradual northward propagation of open marine setting. Generally low positive Eu anomalies in the chert, except for the apparently high Eu anomalies in the chert from Chengbu (Eu/Eu* up to 4.6), suggest mild hydrothermal venting activities in general, except for those at Chengbu. The initial 87Sr/86Sr (0) ratios of chert generally vary from 0.712000 to 0.73000 , suggesting influences both from terrigenous influx and seawater. The Nd isotopic model ages (tDM or t2DM) and initial εNd (0) values of chert vary mostly from 1.5 to 2.1 Ga, and from –16 to –21, respectively, implying that the silica sources were derived from the provenances of the Palaeoproterozoic crust relics at depth. The high εNd (0) values of chert (-0.22 to 14.7) in some localities, mostly along the elongate troughs, suggest that silica sources may have been derived from deeper-seated mantle, being channeled through the interplate boundary fault zones extending downwards to the mantle. At Wuxiangling, Nanning, chert occurs extensively from the Emsian through the Frasnian strata, both U/Th ratios and tDM ages of chert reached up to a maximum in the early Frasnian corresponding to the extensive development of chert in South China, pointing to a maximum extensional stage of Devonian South China basin, which is supported by the Ce/Ce* values as is opposed to the previous datasets as the coeval minimum values.

Prehistoric Pinus woodland dynamics in an upland landscape in northern Scotland: the roles of climate change and human impact

Pollen, microscopic charcoal, palaeohydrological and dendrochronological analyses are applied to a radiocarbon and tephrochronologically dated mid Holocene (ca. 8500–3000 cal B.P.) peat sequence with abundant fossil Pinus (pine) wood. The Pinus populations on peat fluctuated considerably over the period in question. Colonisation by Pinus from ca. 7900–7600 cal B.P. appears to have had no specific environmental trigger; it was probably determined by the rate of migration from particular populations. The second phase, at ca. 5000–4400 cal B.P., was facilitated by anthropogenic interference that reduced competition from other trees. The pollen record shows two Pinus declines. The first at ca. 6200–5500 cal B.P. was caused by a series of rapid and frequent climatic shifts. The second, the so-called pine decline, was very gradual (ca. 4200–3300 cal B.P.) at Loch Farlary and may not have been related to climate change as is often supposed. Low intensity but sustained grazing pressures were more important. Throughout the mid Holocene, the frequency and intensity of burning in these open Pinus–Calluna woods were probably highly sensitive to hydrological (climatic) change. Axe marks on several trees are related to the mid to late Bronze Age, i.e., long after the trees had died.

La recuperación mutua en personas con trastornos psicológicos o diversidad funcional a través de la práctica creativa

En el presente artículo introducimos el concepto de “recuperación mutua” y proponemos las prácticas creativas como herramientas eficientesde recuperación de personas tanto con problemas de salud mental como con algún tipo de diversidad funcional. Frente al concepto clásico de “arte-terapia” nosotros proponemos el concepto de “práctica creativa” como más compatible con el modelo de “recuperación mutua”. Para ello, en primer lugar realizamos un breve repaso crítico a la relación del arte con la locura. Seguidamente, presentamos los conceptos hermanos de “recuperación” y “recuperación mutua” en el marco de lo que se ha venido a denominar las “health humanities”. Para finalizar, describimos dos prácticas creativas que en la actualidad están siendo evaluadas en España en el contexto de un proyecto de investigacióninternacional en recuperación mutua: Los seminarios creativos con personas con trastorno mental grave en el Museo de Arte Contemporáneo de Sevilla y el grupo de teatro con personas con diversidad funcional de la Asociación Síndrome de Down-Sevilla

Linking past cultural developments to palaeoenvironmental changes in Estonia

Connections between environmental and cultural changes are analysed in Estonia during the past c. 4,500 years. Records of cereal-type pollen as (agri)cultural indices are compared with high-resolution palaeohydrological and annual mean temperature reconstructions from a selection of Estonian bogs and lakes (and Lake Igelsjon in Sweden). A broad-scale comparison shows increases in the percentage of cereal-type pollen during a decreasing trend in annual mean temperatures over the past c. 4,300 years, suggesting a certain independence of agrarian activities from environmental conditions at the regional level. The first cereal-type pollen in the region is found from a period with a warm and dry climate. A slow increase in pollen of cultivated land is seen around the beginning of the late Bronze Age, a slight increase at the end of the Roman Iron Age and a significant increase at the beginning of the Middle Ages. In a few cases increases in agricultural pollen percentages occur in the periods of warming. Stagnation and regression occurs in the periods of cooling, but regression at individual sites may also be related to warmer climate episodes. The cooling at c. 400-300 cal b.p., during the 'Little Ice Age' coincides with declines in cereal-type and herb pollen curves. These may not, however, be directly related to the climate change, because they coincide with war activities in the region.

Weathering rinds as mirror images of palaeosols: Examples from the Western Alps with correlation to Antarctica and Mars

Weathering rinds have been used for decades as relative age indicators to differentiate glacial deposits in long Quaternary sequences, but only recently has it been shown that rinds contain long and extensive palaeoenvironmental records that often extend far beyond mere repositories of chemical weathering on both Earth and Mars. When compared with associated palaeosols in deposits of the same age, rinds often carry a zonal weathering record that can be correlated with palaeosol horizon characteristics, with respect to both abiotic and biotic parameters. As demonstrated with examples from the French and Italian Alps, rinds in coarse clastic sediment contain weathering zones that correlate closely with horizon development in associated palaeosols of presumed Late Glacial age. In addition to weathering histories in both rinds and palaeosols, considerable evidence exists to indicate that the black mat impact (12.8 ka) reached the European Alps, a connection with the Younger Dryas readvance supported by both mineral and chemical composition. Preliminary metagenomic microbial analysis using density gradient gel electrophoresis suggests that the eubacterial microbial population found in at least one Ah palaeosol horizon associated with a rind impact site is different from that in other Late Glacial and Younger Dryas surface palaeosol horizons. © 2013 The Geological Society of London.

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

Neurodegenerative diseases affecting the macula constitute a major cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial late-onset age-related macular degeneration (AMD). As part of our continued efforts to define genetic causes of macular degeneration, we performed whole exome sequencing in four individuals of a two-generation family with autosomal dominant maculopathy and identified a rare variant p.Glu1144Lys in Fibrillin 2 (FBN2), a glycoprotein of the elastin-rich extracellular matrix (ECM). Sanger sequencing validated the segregation of this variant in the complete pedigree, including two additional affected and one unaffected individual. Sequencing of 192 maculopathy patients revealed additional rare variants, predicted to disrupt FBN2 function. We then undertook additional studies to explore the relationship of FBN2 to macular disease. We show that FBN2 localizes to Bruch's membrane and its expression appears to be reduced in aging and AMD eyes, prompting us to examine its relationship with AMD. We detect suggestive association of a common FBN2 non-synonymous variant, rs154001 (p.Val965Ile) with AMD in 10,337 cases and 11,174 controls (OR=1.10; p-value=3.79×10(-5)). Thus, it appears that rare and common variants in a single gene - FBN2 - can contribute to Mendelian and complex forms of macular degeneration. Our studies provide genetic evidence for a key role of elastin microfibers and Bruch's membrane in maintaining blood-retina homeostasis and establish the importance of studying orphan diseases for understanding more common clinical phenotypes.

Stable Isotope Dietary Analysis of Prehistoric Populations from the Minusinsk Basin, Southern Siberia, Russia: A new chronological framework for the introduction of millet to the eastern Eurasian steppe

We report the results of stable carbon and nitrogen isotope analysis of 354 human and faunal samples from five archaeological cultures of the Minusinsk Basin, Southern Siberia – Afanasyevo, Okunevo, Andronovo, Karasuk and Tagar (ca. 2700–1 BC) – a key location in Eurasia due to its position on a northern corridor linking China and central Eurasia. The results indicate that the diet of Eneolithic to Middle Bronze Age (Afanasyevo to Andronovo) populations was primarily C3-based, with C4 plants only becoming an important component of the diet in the Late Bronze Age Karasuk and Early Iron Age Tagar cultures. Freshwater fish seems to have been an important constituent of the diets in all groups. The findings constitute the earliest concrete evidence for the substantial use of millet in the eastern Eurasian steppe. We propose that it was probably introduced from Northwestern China during the Karasuk culture at the start of the Late Bronze Age, ca. 1500 BC. We conclude with a discussion of the implications for the nature of pastoralist economies on the steppes.