Project description:The extinction of the woolly rhinoceros (Coelodonta antiquitatis) at the onset of the Holocene remains an enigma, with conflicting evidence regarding its cause and spatiotemporal dynamics. This partly reflects challenges in determining demographic responses of late Quaternary megafauna to climatic and anthropogenic causal drivers with available genetic and paleontological techniques. Here, we show that elucidating mechanisms of ancient extinctions can benefit from a detailed understanding of fine-scale metapopulation dynamics, operating over many millennia. Using an abundant fossil record, ancient DNA, and high-resolution simulation models, we untangle the ecological mechanisms and causal drivers that are likely to have been integral in the decline and later extinction of the woolly rhinoceros. Our 52,000-y reconstruction of distribution-wide metapopulation dynamics supports a pathway to extinction that began long before the Holocene, when the combination of cooling temperatures and low but sustained hunting by humans trapped woolly rhinoceroses in suboptimal habitats along the southern edge of their range. Modeling indicates that this ecological trap intensified after the end of the last ice age, preventing colonization of newly formed suitable habitats, weakening stabilizing metapopulation processes, triggering the extinction of the woolly rhinoceros in the early Holocene. Our findings suggest that fragmentation and resultant metapopulation dynamics should be explicitly considered in explanations of late Quaternary megafauna extinctions, sending a clarion call to the fragility of the remaining large-bodied grazers restricted to disjunct fragments of poor-quality habitat due to anthropogenic environmental change.
Project description:Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss of function variants in desmosomal genes lead to a variety of skin and heart related phenotypes. Here, we report tuftelin 1 as a desmosome-associated protein, implicated in epidermal integrity. In two siblings with mild skin fragility, woolly hair and mild palmoplantar keratoderma, but without a cardiac phenotype, we identified a homozygous splice site variant in the TUFT1 gene, leading to aberrant mRNA splicing and loss of tuftelin 1 protein. Patients’ skin and keratinocytes showed acantholysis, perinuclear retraction of intermediate filaments, and reduced mechanical stress resistance. Immunolabeling and transfection studies showed that tuftelin 1 is positioned within the desmosome and its location dependent on the presence of the desmoplakin carboxy-terminal tail. A Tuft1 knock-out mouse model mimicked the patients’ phenotypes. Altogether, this study reveals tuftelin 1 as a desmosome-associated protein, whose absence causes skin fragility, woolly hair and palmoplantar keratoderma.
Project description:Extinction of the woolly mammoth in Beringia has long been subject to research and speculation. Here we use a new geo-referenced database of radiocarbon-dated evidence to show that mammoths were abundant in the open-habitat of Marine Isotope Stage 3 (∼45-30 ka). During the Last Glacial Maximum (∼25-20 ka), northern populations declined while those in interior Siberia increased. Northern mammoths increased after the glacial maximum, but declined at and after the Younger Dryas (∼12.9-11.5 ka). Remaining continental mammoths, now concentrated in the north, disappeared in the early Holocene with development of extensive peatlands, wet tundra, birch shrubland and coniferous forest. Long sympatry in Siberia suggests that humans may be best seen as a synergistic cofactor in that extirpation. The extinction of island populations occurred at ∼4 ka. Mammoth extinction was not due to a single cause, but followed a long trajectory in concert with changes in climate, habitat and human presence.
Project description:Woolly mammoths inhabited Eurasia and North America from late Middle Pleistocene (300 ky BP [300,000 years before present]), surviving through different climatic cycles until they vanished in the Holocene (3.6 ky BP). The debate about why the Late Quaternary extinctions occurred has centred upon environmental and human-induced effects, or a combination of both. However, testing these two hypotheses-climatic and anthropogenic-has been hampered by the difficulty of generating quantitative estimates of the relationship between the contraction of the mammoth's geographical range and each of the two hypotheses. We combined climate envelope models and a population model with explicit treatment of woolly mammoth-human interactions to measure the extent to which a combination of climate changes and increased human pressures might have led to the extinction of the species in Eurasia. Climate conditions for woolly mammoths were measured across different time periods: 126 ky BP, 42 ky BP, 30 ky BP, 21 ky BP, and 6 ky BP. We show that suitable climate conditions for the mammoth reduced drastically between the Late Pleistocene and the Holocene, and 90% of its geographical range disappeared between 42 ky BP and 6 ky BP, with the remaining suitable areas in the mid-Holocene being mainly restricted to Arctic Siberia, which is where the latest records of woolly mammoths in continental Asia have been found. Results of the population models also show that the collapse of the climatic niche of the mammoth caused a significant drop in their population size, making woolly mammoths more vulnerable to the increasing hunting pressure from human populations. The coincidence of the disappearance of climatically suitable areas for woolly mammoths and the increase in anthropogenic impacts in the Holocene, the coup de grâce, likely set the place and time for the extinction of the woolly mammoth.
Project description:The 28,000-year-old remains of a woolly mammoth, named ‘Yuka’, were found in Siberian permafrost. We performed proteomic analyses of muscle and bone marrow samples obtained from the remains to gain information about the repertoire and modifications of proteins.