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  • 1
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    SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans (2005)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2005-12-17
    Description: Lighter variations of pigmentation in humans are associated with diminished number, size, and density of melanosomes, the pigmented organelles of melanocytes. Here we show that zebrafish golden mutants share these melanosomal changes and that golden encodes a putative cation exchanger slc24a5 (nckx5) that localizes to an intracellular membrane, likely the melanosome or its precursor. The human ortholog is highly similar in sequence and functional in zebrafish. The evolutionarily conserved ancestral allele of a human coding polymorphism predominates in African and East Asian populations. In contrast, the variant allele is nearly fixed in European populations, is associated with a substantial reduction in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations, suggesting a key role for the SLC24A5 gene in human pigmentation.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lamason, Rebecca L -- Mohideen, Manzoor-Ali P K -- Mest, Jason R -- Wong, Andrew C -- Norton, Heather L -- Aros, Michele C -- Jurynec, Michael J -- Mao, Xianyun -- Humphreville, Vanessa R -- Humbert, Jasper E -- Sinha, Soniya -- Moore, Jessica L -- Jagadeeswaran, Pudur -- Zhao, Wei -- Ning, Gang -- Makalowska, Izabela -- McKeigue, Paul M -- O'donnell, David -- Kittles, Rick -- Parra, Esteban J -- Mangini, Nancy J -- Grunwald, David J -- Shriver, Mark D -- Canfield, Victor A -- Cheng, Keith C -- CA73935/CA/NCI NIH HHS/ -- EY11308/EY/NEI NIH HHS/ -- HD37572/HD/NICHD NIH HHS/ -- HD40179/HD/NICHD NIH HHS/ -- HG002154/HG/NHGRI NIH HHS/ -- HL077910/HL/NHLBI NIH HHS/ -- RR017441/RR/NCRR NIH HHS/ -- New York, N.Y. -- Science. 2005 Dec 16;310(5755):1782-6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Jake Gittlen Cancer Research Foundation, Department of Pathology, The Pennsylvania State University College of Medicine, Hershey, PA 17033, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16357253" target="_blank"〉PubMed〈/a〉
    Keywords: African Americans/genetics ; African Continental Ancestry Group/genetics ; Alanine/genetics ; Alleles ; Amino Acid Sequence ; Animals ; Antiporters/chemistry/*genetics/physiology ; Asian Continental Ancestry Group/genetics ; Biological Evolution ; Calcium/metabolism ; European Continental Ancestry Group/genetics ; Gene Frequency ; Genes ; Genetic Variation ; Haplotypes ; Heterozygote ; Humans ; Ion Transport ; Melanins/analysis ; Melanosomes/chemistry/ultrastructure ; Mice ; Molecular Sequence Data ; Multifactorial Inheritance ; Mutation ; Pigment Epithelium of Eye/chemistry/ultrastructure ; Polymorphism, Single Nucleotide ; Selection, Genetic ; Skin Pigmentation/*genetics ; Threonine/genetics ; Zebrafish/embryology/*genetics/metabolism ; Zebrafish Proteins/chemistry/*genetics/physiology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    Holocene forcing of the Indian monsoon recorded in a stalagmite from southern Oman (2003)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2003-06-14
    Description: A high-resolution oxygen-isotope record from a thorium-uranium-dated stalagmite from southern Oman reflects variations in the amount of monsoon precipitation for the periods from 10.3 to 2.7 and 1.4 to 0.4 thousand years before the present (ky B.P.). Between 10.3 and 8 ky B.P., decadal to centennial variations in monsoon precipitation are in phase with temperature fluctuations recorded in Greenland ice cores, indicating that early Holocene monsoon intensity is largely controlled by glacial boundary conditions. After approximately 8 ky B.P., monsoon precipitation decreases gradually in response to changing Northern Hemisphere summer solar insolation, with decadal to multidecadal variations in monsoon precipitation being linked to solar activity.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Fleitmann, Dominik -- Burns, Stephen J -- Mudelsee, Manfred -- Neff, Ulrich -- Kramers, Jan -- Mangini, Augusto -- Matter, Albert -- New York, N.Y. -- Science. 2003 Jun 13;300(5626):1737-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institute of Geological Sciences, University of Bern, CH-3012 Bern, Switzerland. dominik.fleitmann@geo.unibe.ch〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/12805545" target="_blank"〉PubMed〈/a〉
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 3
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    Discrete visual defects in pearl mutant mice (1983)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1983-03-04
    Description: The mutant mouse pearl, characterized by its hypopigmentation, has a specific functional defect in a sensory system--the retina. The intact pearl mouse has reduced sensitivity in the dark-adapted condition. Normal sensitivity is restored by isolation and superfusion of the retina with bicarbonate-buffered Ringer solution, suggesting that the retinal expression of the pearl mutation depends on a diffusible substance. The pearl phenotype is described as a possible model for human congenital stationary night blindness.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Balkema, G W -- Mangini, N J -- Pinto, L H -- R01EY02536/EY/NEI NIH HHS/ -- New York, N.Y. -- Science. 1983 Mar 4;219(4588):1085-7.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/6600521" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Dark Adaptation ; *Disease Models, Animal ; Mice ; Mice, Mutant Strains/*physiology ; Night Blindness/*genetics/physiopathology ; Retina/physiopathology ; Vision, Ocular/*physiology
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 4
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    Climate spectrum estimation in the presence of timescale errors (2009)
    Copernicus
    Details
    Publication Date: 2009-02-05
    Description: We introduce an algorithm (called REDFITmc2) for spectrum estimation in the presence of timescale errors. It is based on the Lomb-Scargle periodogram for unevenly spaced time series, in combination with the Welch's Overlapped Segment Averaging procedure, bootstrap bias correction and persistence estimation. The timescale errors are modelled parametrically and included in the simulations for determining (1) the upper levels of the spectrum of the red-noise AR(1) alternative and (2) the uncertainty of the frequency of a spectral peak. Application of REDFITmc2 to ice core and stalagmite records of palaeoclimate allowed a more realistic evaluation of spectral peaks than when ignoring this source of uncertainty. The results support qualitatively the intuition that stronger effects on the spectrum estimate (decreased detectability and increased frequency uncertainty) occur for higher frequencies. The surplus information brought by algorithm REDFITmc2 is that those effects are quantified. Regarding timescale construction, not only the fixpoints, dating errors and the functional form of the age-depth model play a role. Also the joint distribution of all time points (serial correlation, stratigraphic order) determines spectrum estimation.
    Print ISSN: 1023-5809
    Electronic ISSN: 1607-7946
    Topics: Geosciences , Physics
    Published by Copernicus on behalf of European Geosciences Union.
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  • 5
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    Untersuchungen zur Chronostratigraphie mariner Terrassen in Mittelitalien—230Th/234U- und ESR-Datierungen an fossilen Mollusken (1982)
    Copernicus
    Details
    Publication Date: 1982-01-01
    Description: Durch die ESR-Altersbestimmungsmethode (Elektronenspin Resonanz) sowie die 230Th/234U-Datierung fossiler Muscheln bei Tarquinia (Latium) konnte die stratigraphische Einordnung tektonisch verstellter thyrrenzeitlicher mariner Terrassen geklärt werden. Zwischen den Flüssen Mignone und Marta liegt die Terrasse des Euthyrren I (100 000—120 000 BP) heute in einer Höhe von 40—45 m ü. M. und die Küstenlinie des Euthyrren II (200 000—220 000 BP) ca. 65m ü. M. Sie liegen damit deutlich höher als alle bisher gefundenen euthyrrenzeitlichen Terrassen in Mittelitalien.
    Print ISSN: 0424-7116
    Electronic ISSN: 2199-9090
    Topics: Geosciences , History
    Published by Copernicus on behalf of Deutsche Quartärvereinigung.
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  • 6
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    Coarsely crystalline cryogenic cave carbonate – a new archive to estimate the Last Glacial minimum permafrost depth in Central Europe (2012)
    Copernicus
    Details
    Publication Date: 2012-11-14
    Description: Cryogenic cave carbonate (CCC) represents a specific type of speleothem whose precipitation is triggered by freezing of mineralized karst water. Coarsely crystalline CCC, which formed during slow freezing of water in cave pools, has been reported from 20 Central European caves located in Germany, the Czech Republic, Slovakia and Poland. All these caves are situated in an area which was glacier-free during the Weichselian. Whereas the formation of usual types of speleothems in caves of this region usually ceased during the glacials, coarsely crystalline CCC precipitation was restricted to glacial periods. Since this carbonate type represents a novel, useful paleoclimate proxy, data from its Weichselian occurrences in caves in Central Europe were collected, including their C and O stable isotope values, U-series ages and depth below the surface. When using only the CCC data from caves with limited cave ventilation, the permafrost depths of the Weichselian can be estimated to be at least 65 m in the lowlands and uplands. An isolated CCC find indicates that Weichselian permafrost penetrated to a depth of at least 285 m in the High Tatra mountains, Slovakia. A model of the formation of coarsely crystalline CCC assumes its formation especially during periods of permafrost thawing. U-series data confirm that permafrost depth changed and CCC precipitation in deep caves occurred repeatedly in the studied area during marine isotope stages 4, 3 and 2. One important phase of coarsely crystalline CCC formation related to permafrost thawing occurred between 40 and 21 ka BP, and the last phase of its formation was related to the final permafrost destruction between 17 and 12 ka BP.
    Print ISSN: 1814-9324
    Electronic ISSN: 1814-9332
    Topics: Geosciences
    Published by Copernicus on behalf of European Geosciences Union.
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  • 7
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    Bunker Cave stalagmites: an archive for central European Holocene climate variability (2012)
    Copernicus
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    Publication Date: 2012-10-31
    Description: Holocene climate was characterised by variability on multi-centennial to multi-decadal time scales. In central Europe, these fluctuations were most pronounced during winter. Here we present a record of past winter climate variability for the last 10.8 ka based on four speleothems from Bunker Cave, western Germany. Due to its central European location, the cave site is particularly well suited to record changes in precipitation and temperature in response to changes in the North Atlantic realm. We present high-resolution records of δ18O, δ13C values and Mg/Ca ratios. Changes in the Mg/Ca ratio are attributed to past meteoric precipitation variability. The stable C isotope composition of the speleothems most likely reflects changes in vegetation and precipitation, and variations in the δ18O signal are interpreted as variations in meteoric precipitation and temperature. We found cold and dry periods between 8 and 7 ka, 6.5 and 5.5 ka, 4 and 3 ka as well as between 0.7 and 0.2 ka. The proxy signals in the Bunker Cave stalagmites compare well with other isotope records and, thus, seem representative for central European Holocene climate variability. The prominent 8.2 ka event and the Little Ice Age cold events are both recorded in the Bunker Cave record. However, these events show a contrasting relationship between climate and δ18O, which is explained by different causes underlying the two climate anomalies. Whereas the Little Ice Age is attributed to a pronounced negative phase of the North Atlantic Oscillation, the 8.2 ka event was triggered by cooler conditions in the North Atlantic due to a slowdown of the thermohaline circulation.
    Print ISSN: 1814-9324
    Electronic ISSN: 1814-9332
    Topics: Geosciences
    Published by Copernicus on behalf of European Geosciences Union.
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  • 8
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    Holocene climate variability in north-eastern Italy: potential influence of the NAO and solar activity recorded by speleothem data (2012)
    Copernicus
    Details
    Publication Date: 2012-08-27
    Description: Here we present high-resolution stable isotope and lamina thickness profiles as well as radiocarbon data for the Holocene stalagmite ER 76 from Grotta di Ernesto (north-eastern Italy), which was dated by combined U-series dating and lamina counting. ER 76 grew between 8 ka (thousands of years before 2000 AD) and today, with a hiatus from 2.6 to 0.4 ka. Data from nine meteorological stations in Trentino show a significant influence of the North Atlantic Oscillation (NAO) on winter temperature and precipitation in the cave region. Spectral analysis of the stable isotope signals of ER 76 reveals significant peaks at periods of 110, 60–70, 40–50, 32–37 and around 25 a. Except for the cycle between 32 and 37 a all periodicities have corresponding peaks in power spectra of solar variability, and the 25-a cycle may correspond to NAO variability. This suggests that climate variability in northern Italy was influenced by both solar activity and the NAO during the Holocene. Six periods of warm winter climate in the cave region were identified. These are centred at 7.9, 7.4, 6.5, 5.5, 4.9 and 3.7 ka, and their duration ranges from 100 to 400 a. The two oldest warm phases coincide with the deposition of sapropel S1 in the Mediterranean Sea indicating that the climate in the cave region was influenced by this prominent pluvial phase in the Mediterranean area. For the younger warm phases it is difficult to establish a supra-regional climate pattern, and some of them may, thus, reflect regional climate variability. This highlights the complexity of regional and supra-regional scale Holocene climate patterns.
    Print ISSN: 1814-9324
    Electronic ISSN: 1814-9332
    Topics: Geosciences
    Published by Copernicus on behalf of European Geosciences Union.
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  • 9
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    Simulated European stalagmite record and its relation to a quasi-decadal climate mode (2013)
    Copernicus
    Details
    Publication Date: 2013-01-21
    Description: A synthetic stalagmite δ18O record for the Bunker Cave (51° N, 7° E) is constructed using a combined climate–stalagmite modelling approach where we combine an atmospheric circulation model equipped with water isotopes and a model simulating stalagmite calcite δ18O values. Mixing processes in the soil and karst above the cave represent a natural low-pass filter of the speleothem climate archive. Stalagmite δ18O values at Bunker Cave lag the regional surface climate by 3–4 yr. The power spectrum of the simulated speleothem calcite δ18O record has a pronounced peak at quasi-decadal time scale, which is associated with a large-scale climate variability pattern in the North Atlantic. Our modelling study suggests that stalagmite records from Bunker Cave are representative for large-scale teleconnections and can be used to obtain information about the North Atlantic and its decadal variability.
    Print ISSN: 1814-9324
    Electronic ISSN: 1814-9332
    Topics: Geosciences
    Published by Copernicus on behalf of European Geosciences Union.
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  • 10
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    Reconstruction of drip-water δ18O based on calcite oxygen and clumped isotopes of speleothems from Bunker Cave (Germany) (2013)
    Copernicus
    Details
    Publication Date: 2013-02-14
    Description: The geochemical signature of many speleothems used for reconstruction of past continental climates is affected by kinetic isotope fractionation. This limits quantitative paleoclimate reconstruction and, in cases where the kinetic fractionation varies with time, also affects relative paleoclimate interpretations. In carbonate archive research, clumped isotope thermometry is typically used as proxy for absolute temperatures. In the case of speleothems, however, clumped isotopes provide a sensitive indicator for disequilibrium effects. The extent of kinetic fractionation co-varies in Δ47 and δ18O so that it can be used to account for disequilibrium in δ18O and to extract the past drip-water composition. Here we apply this approach to stalagmites from Bunker Cave (Germany) and calculate drip-water δ18Ow values for the Eemian, MIS3, and the Holocene, relying on independent temperature estimates and accounting for disequilibrium. Applying the co-variation method to modern calcite precipitates yields drip-water δ18Ow values in agreement with modern cave drip-water δ18Ow of −7.9 ± 0.3‰, despite large and variable disequilibrium effects in both calcite δ18Oc and Δ47. Reconstructed paleo-drip-water δ18Ow values are lower during colder periods (e.g., MIS3: −8.6 ± 0.4‰ and the early Holocene at 11 ka: −9.7 ± 0.2‰) and show higher values during warmer climatic periods (e.g., the Eemian: −7.6 ± 0.2‰ and the Holocene Climatic Optimum: −7.2 ± 0.3‰). This new approach offers a unique possibility for quantitative climate reconstruction including the assessment of past hydrological conditions while accounting for disequilibrium effects.
    Print ISSN: 1814-9324
    Electronic ISSN: 1814-9332
    Topics: Geosciences
    Published by Copernicus on behalf of European Geosciences Union.
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