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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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    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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  • 3
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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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