%0 Journal Article %1 lamason2005slc24a5 %A Lamason, R L %A Mohideen, M A %A Mest, J R %A Wong, A C %A Norton, H L %A Aros, M C %A Jurynec, M J %A Mao, X %A Humphreville, V R %A Humbert, J E %A Sinha, S %A Moore, J L %A Jagadeeswaran, P %A Zhao, W %A Ning, G %A Makalowska, I %A McKeigue, P M %A O'donnell, D %A Kittles, R %A Parra, E J %A Mangini, N J %A Grunwald, D J %A Shriver, M D %A Canfield, V A %A Cheng, K C %D 2005 %J Science %K SLC24A5 humans selective_sweep skin_pigmentation zebrafish parallel_adaptation %N 5755 %P 1782-1786 %R 10.1126/science.1116238 %T SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans %U http://www.ncbi.nlm.nih.gov/pubmed/16357253 %V 310 %X 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.

@article{lamason2005slc24a5, 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.}, added-at = {2010-11-25T17:06:42.000+0100}, author = {Lamason, R L and Mohideen, M A and Mest, J R and Wong, A C and Norton, H L and Aros, M C and Jurynec, M J and Mao, X and Humphreville, V R and Humbert, J E and Sinha, S and Moore, J L and Jagadeeswaran, P and Zhao, W and Ning, G and Makalowska, I and McKeigue, P M and O'donnell, D and Kittles, R and Parra, E J and Mangini, N J and Grunwald, D J and Shriver, M D and Canfield, V A and Cheng, K C}, biburl = {https://www.bibsonomy.org/bibtex/26d032ddc0b616d2e39753ccea9484129/peter.ralph}, description = {SLC24A5, a putative cation exchanger, affects pigm... [Science. 2005] - PubMed result}, doi = {10.1126/science.1116238}, interhash = {edb9eefee8e6f3ed18b887755e0bf7ec}, intrahash = {6d032ddc0b616d2e39753ccea9484129}, journal = {Science}, keywords = {SLC24A5 humans selective_sweep skin_pigmentation zebrafish parallel_adaptation}, month = dec, number = 5755, pages = {1782-1786}, pmid = {16357253}, timestamp = {2011-04-27T22:03:57.000+0200}, title = {SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans}, url = {http://www.ncbi.nlm.nih.gov/pubmed/16357253}, volume = 310, year = 2005 }