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SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans (2005)

R. L. Lamason ; M. A. Mohideen ; J. R. Mest ; [et al.]

American Association for the Advancement of Science (AAAS)

In: Science. 310(5755): 1782-6. doi: 10.1126/science.1116238.

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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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Holocene forcing of the Indian monsoon recorded in a stalagmite from southern Oman (2003)

D. Fleitmann ; S. J. Burns ; M. Mudelsee ; [et al.]

American Association for the Advancement of Science (AAAS)

In: Science. 300(5626): 1737-9. doi: 10.1126/science.1083130.

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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〉

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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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Discrete visual defects in pearl mutant mice (1983)

G. W. Balkema ; N. J. Mangini ; L. H. Pinto

American Association for the Advancement of Science (AAAS)

In: Science. 219(4588): 1085-7.

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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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