车讯:2016洛杉矶车展探馆：本田全新CR-V实车
Abstract
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.
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We thank P. Hubley for excellent management of our zebrafish facility; B. Blasiole, W. Boehmler, A. Sidor, and J. Gershenson for experimental assistance; R. Levenson, B. Kennedy, G. Chase, J. Carlson, and E. Puffenberger for helpful discussions; L. Rush for help on the cover design; and V. Hearing and M. Marks for MNT1 cells. Supported by funding from the Jake Gittlen Memorial Golf Tournament (K.C.), NSF (grant MCB9604923 to K.C.), NIH (grants CA73935, HD40179, and RR017441 to K.C.; HD37572 to D.G.; HG002154 to M.S.; EY11308 to N.M.; and HL077910 to P.J.), the Pennsylvania Tobacco Settlement Fund (K.C.), and the Natural Sciences and Engineering Research Council of Canada (E.P.). This work is dedicated to the open, trusting, and generous atmosphere fostered by the late George Streisinger.
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Published In
Science
Volume 310 | Issue 5755
16 December 2005
16 December 2005
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American Association for the Advancement of Science.
Submission history
Received: 17 June 2005
Accepted: 15 November 2005
Published in print: 16 December 2005
Notes
Supporting Online Material
www.sciencemag.org/cgi/content/full/310/5755/1782/DC1
Materials and Methods
Figs. S1 to S7
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