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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
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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
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  • 4
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    U/Th age constraints on the absence of ice in the central Inn Valley (eastern Alps, Austria) during Marine Isotope Stages 5c to 5a (2006)
    Cambridge University Press
    Details
    Publication Date: 2006-07-01
    Description: Calcitic flowstones are present in fractures of a Pleistocene breccia near Innsbruck, Austria, and record periods of carbonate precipitation in the unsaturated zone between 101,500 ± 1500 and 70,300 ± 1800 yr, constrained by U-series disequilibrium dates. The occurrence of these speleothems, their low carbon isotopic composition, and the lack of infiltrated siliciclastic material demonstrate that the central Inn valley – which harbored one of the most extensive valley glaciers during the last glacial maximum – was ice-free during Marine Isotope Stages 5c to 5a. Climatically warm periods are separated by distinct drops in the oxygen isotopic composition of the speleothem calcite, attributed to strong and possibly seasonally biased atmospheric cooling. During these intervening stadials, which mirror those identified in the Greenland ice cores and marine sea-surface temperature records, calcite deposition apparently came to a halt, but the Inn Valley remained ice-free. The youngest calcite layer formed between ∼74,000 and ∼70,000 yr and places a maximum age limit on the likely expansion of alpine glaciers during the Marine Isotope Stage 5/4 transition, consistent with other speleothem records.
    Print ISSN: 0033-5894
    Electronic ISSN: 1096-0287
    Topics: Geography , Geosciences
    Published by Cambridge University Press
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  • 5
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    Holocene Climate Variability in Sicily from a Discontinuous Stalagmite Record and the Mesolithic to Neolithic Transition (2006)
    Cambridge University Press
    Details
    Publication Date: 2006-11-01
    Description: Fabric and stable isotopic composition of a Holocene stalagmite (CR1) from a cave in northern Sicily record changes in paleorainfall in the early Holocene. High δ13C stable isotope values in the calcite deposited from ca. 8500 to ca. 7500 yr ago are interpreted as reflecting periods of high rainfall. The wet phase was interrupted by two periods of multi-century duration characterized by relatively cool and dry winters centered at ca. 8200 and ca. 7500 yr ago, highlighted by low δ13C and δ18O values. A high variability of δ13C values is recorded from ca. 7500 to ca. 6500 yr ago and indicates that the transition from a pluvial early Holocene to the present-day climate conditions was punctuated by decadal-scale periods of relatively dry winters. In northern Sicily, the traditional elements of the Neolithic appear at ca. 7700 yr ago. It is possible that changes in rainfall influenced the passage from hunter-gathering to farming and sheep-herding economies.
    Print ISSN: 0033-5894
    Electronic ISSN: 1096-0287
    Topics: Geography , Geosciences
    Published by Cambridge University Press
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  • 6
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    Warm Period Growth of Travertine during the Last Interglaciation in Southern Germany (2000)
    Cambridge University Press
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    Publication Date: 2000-07-01
    Description: Late-Quaternary travertine at two sites near Stuttgart formed entirely during interglacial periods. The travertine contains structures from growth induced by bacteria, and such structures have been dated by 230Th/U mass spectrometry. The resulting ages from both sites imply growth episodes of short duration, with growth rates up to 5 mm yr−1, at 99,800 ± 1300 yr B.P. (2σ n = 8) and 105,900 ± 1300 yr B.P. (2σ n = 7). These episodes were likely part of marine isotope stage (MIS) 5.3. Deposition of silt interrupted travertine growth at one of the sites ∼105,000 yr B.P. Likely correlatives of this silt are the St. Germain I-B stade recorded in the Grand Pile peat bog and a cold episode ∼1000 yr long recorded by δ18O values in the GRIP ice core. Travertine also formed during stage 5.5 (∼115,000 yr) and during the early Holocene. We found no evidence for travertine accumulation in stages 2, 3, 4, and 5.1. At both sites, the Sr/U ratio and the initial 234U/238U activity ratio resemble those of modern spring water. However, the sites differ in the chemical composition of spring water and in stratigraphic sequence of travertine accumulation.
    Print ISSN: 0033-5894
    Electronic ISSN: 1096-0287
    Topics: Geography , Geosciences
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  • 7
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    The Age of the Holstein Interglaciation: A Reply (1988)
    Cambridge University Press
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    Publication Date: 1988-01-01
    Print ISSN: 0033-5894
    Electronic ISSN: 1096-0287
    Topics: Geography , Geosciences
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  • 8
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    The Holstein Interglaciation: Time-Stratigraphic Position and Correlation to Stable-Isotope Stratigraphy of Deep-Sea Sediments (1986)
    Cambridge University Press
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    Publication Date: 1986-11-01
    Description: Marine molluscan shells from para-type and other localities of the Holsteinian interglaciation were dated by Th/U and the electron spin resonance (ESR) method to more than 350,000 and 370,000 yr B.P., beyond the limit of Th/U dating. The high age estimate is corroborated by a K/Ar age of 420,000 yr B.P. determined from volcanic ash near the base of the Ariendorf paleosol in the Middle Rhine valley believed to be a pedostratigraphic equivalent of the Holsteinian. Shells from the Herzeele marine unit III, an equivalent of the Wacken (Dömnitz) warm stage in northern France and subsequent to the Holsteinian, revealed ages between 300,000 and 350,000 yr B.P. A correlation of these two warm stages with marine oxygen-isotope stages 11 and 9 on the SPECMAP and CARTUNE time scales is suggested. From the benthic oxygen-isotope record one may infer that no exceptionally high global sea-level rise corresponds to the large transgressions of the Holstein Sea in northern Germany. Therefore, a significant proportion of the transgression was probably the result of an unusually large local glacial-isostatic depression caused by the extreme buildup of ice during the preceding Elster glaciation (stage 12). According to the deep-sea record, it lasted approximately 50% longer than the subsequent cold stage 10. The outstanding soil formation with Braunlehm and the well-developed thermal optimum of the Holsteinian are tentatively related to a phase of minimum sea-ice cover in the Norwegian-Greenland Sea, as deduced from long benthic carbon-isotope records from the central Atlantic.
    Print ISSN: 0033-5894
    Electronic ISSN: 1096-0287
    Topics: Geography , Geosciences
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  • 9
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    Changing moisture sources over the last 330,000 years in Northern Oman from fluid-inclusion evidence in speleothems (2003)
    Cambridge University Press
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    Publication Date: 2003-09-01
    Description: Speleothems from Hoti Cave in northern Oman provide a record of continental pluvial periods over the last 330,000 yr. Periods of rapid speleothem deposition occurred from 6000 to 10,500, 78,000 to 82,000, 120,000 to 135,000, 180,000 to 200,000, and 300,000 to 330,000 yr ago, with little or no growth during the intervening periods. During each of these five pluvial periods, δD values of water extracted from speleothem fluid inclusions (δDFI) are between −60 and −20‰ (VSMOW) and δ18O values of speleothem calcite (δ18OC) are between −12 and −4‰ to (VPDB). These values are much more negative than modern rainfall (for δD) or modern stalagmites (for δ18O). Previous work on the isotopic composition of rainfall in Oman has shown that northern and southern moisture sources are isotopically distinct. Combined measurements of the δD values of fluid-inclusion water with calculated δ18O values from peak interglacial speleothems indicate that groundwater was predominantly recharged by the southern (Indian Ocean) moisture source, when the monsoon rainfall belt moved northward and reached Northern Oman during each of these periods.
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    Electronic ISSN: 1096-0287
    Topics: Geography , Geosciences
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  • 10
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    The Influence of Soil Organic Matter Age Spectrum on the Reconstruction of Atmospheric 14C Levels Via Stalagmites (2011)
    Cambridge University Press
    Details
    Publication Date: 2011-01-01
    Description: The imprint of the radiocarbon bomb peak was detected in the top of stalagmite ER-77 from Grotta di Ernesto (NE Italy). This recently grown stalagmite reveals a reservoir age, also known as dead carbon fraction (dcf), of ≃1050 14C yr, or 12%. By applying a 14C soil-karst model, the age spectrum of soil organic matter (SOM) as well as the CO2 contribution of the single SOM reservoirs to the total soil CO2 can be derived. Under the assumption of constant vegetation, meaning both vegetation density and the age spectrum of SOM, it is possible to derive the soil-air 14C activity of the past using the 14C calibration curve (IntCal04). Hence, it is also possible to calculate an artificial stalagmite 14C data set covering the last 25,000 yr with parameters determined for stalagmite ER-77. With this artificially constructed data set, we derived the hypothetical atmospheric 14C activity by using the common method of applying a constant dcf on the modeled 14C data set of the stalagmite. This theoretical approach allows to analyze the impact of a constant and variable SOM age spectrum on atmospheric 14C reconstructions performed with real stalagmite 14C measurements. We observe deviations between IntCal04 and the atmospheric 14C activity as derived with our modeled 14C data set, which are larger for older SOM than for younger SOM and vary in time up to 2 pMC, depending on the strength of the variations in the atmospheric 14C level. This value is comparable with the 1-σ uncertainty given by IntCal04 for the last glacial. For a varying SOM age spectrum, the deviations between the calibration curve and 14C level of the atmosphere reconstructed with a stalagmite exceed 3 pMC, which is larger than the 1-σ uncertainty of IntCal04. In general, the SOM has smoothing, shifting, and 14C-depleting effects on the stalagmite 14C record and, therefore, on the stalagmite-derived atmospheric 14C activity. In this study, changes in soil-air pCO2 and carbonate dissolution conditions, which have also an important impact on the 14C record of a stalagmite, are not accounted for.
    Print ISSN: 0033-8222
    Electronic ISSN: 1945-5755
    Topics: Archaeology , Energy, Environment Protection, Nuclear Power Engineering , Geosciences
    Published by Cambridge University Press
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