SLC24A5 Encodes a trans-Golgi Network Protein with Potassium-dependent Sodium-Calcium Exchange Activity That Regulates Human Epidermal Melanogenesis
Rebecca S. Ginger,Sarah E. Askew,Richard M. Ogborne,Stephen Wilson,Dudley Ferdinando,Tony Dadd,Adrian M. Smith,Shubana Kazi,Robert T. Szerencsei,Robert J. Winkfein,Paul P. M. Schnetkamp,Martin R. Green +11 more
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TLDR
It is suggested that NCKX5 directly regulates human epidermal melanogenesis and natural skin color through its intracellular potassium-dependent exchanger activity.About:
This article is published in Journal of Biological Chemistry.The article was published on 2008-02-29 and is currently open access. It has received 137 citations till now. The article focuses on the topics: SLC24A5 & Heterologous expression.read more
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Journal ArticleDOI
NCLX is an essential component of mitochondrial Na+/Ca2+ exchange.
Raz Palty,William F. Silverman,Michal Hershfinkel,Teresa Caporale,Stefano L. Sensi,Julia Parnis,Christiane Nolte,Daniel Fishman,Varda Shoshan-Barmatz,Sharon Herrmann,Daniel Khananshvili,Israel Sekler +11 more
TL;DR: It is shown that the Na+/Ca2+ exchanger NCLX is enriched in mitochondria, where it is localized to the cristae and is the long-sought mitochondrial Na+-dependent Ca2-dependent exchanger.
Book ChapterDOI
Anatomy and Organization of Human Skin
TL;DR: There is wide variation between different body sites, and the scalp with its large hair follicles may be contrasted with the forehead, which has only small vellus-producing follicles, albeit associated with large sebaceous glands.
Journal ArticleDOI
Molecular genetics of human pigmentation diversity
TL;DR: From a culmination of genetic and functional studies, it is apparent that a number of genes impacting melanosome biogenesis or the melanin biosynthetic pathway are candidates to explain the diversity seen in human pigmentation.
Journal ArticleDOI
Acidic calcium stores open for business: expanding the potential for intracellular Ca2+ signaling
Sandip Patel,Roberto Docampo +1 more
TL;DR: The defining features of these 'acidic calcium stores' are reviewed and recent progress in understanding the mechanisms of uptake and release of calcium from these stores are highlighted.
Journal ArticleDOI
Genetics of pigmentation in skin cancer--a review.
Dominique Scherer,Rajesh Kumar +1 more
TL;DR: The genetic variants within the genes involved in pigmentation besides influencing phenotypic traits are important determinants of risk of several skin cancers, however, ultimate risk of skin cancer is dependent on interplay between genetic and host factors.
References
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Journal ArticleDOI
A haplotype map of the human genome
John W. Belmont,Andrew Boudreau,Suzanne M. Leal,Paul Hardenbol,Shiran Pasternak,David A. Wheeler,Thomas D. Willis,Fuli Yu,Huanming Yang,Gao Yang,H. B. Hu,Weitao Hu,Chaohua Li,Wei Lin,Siqi Liu,Hao Pan,Xiaoli Tang,Jian Wang,Wei Wang,Jun Yu,Bo Zhang,Qingrun Zhang,Hongbin Zhao,Jun Zhou,Rachel Barry,Brendan Blumenstiel,Amy L. Camargo,Matthew Defelice,Maura Faggart,Mary Goyette,Supriya Gupta,Jamie Moore,Huy Nguyen,Melissa Parkin,Jessica Roy,Erich Stahl,Ellen Winchester,David Altshuler,Yan Shen,Zhijian Yao,Wei Huang,Xun Chu,Yungang He,Li Jin,Yangfan Liu,Yayun Shen,Weiwei Sun,Haifeng Wang,Yi Wang,Ying Wang,Xiaoyan Xiong,Liang Xu,Mary M.Y. Waye,Stephen Kwok-Wing Tsui,Hong Xue,J. Tze Fei Wong,Launa M. Galver,Jian-Bing Fan,Sarah S. Murray,Arnold Oliphant,Mark S. Chee,Alexandre Montpetit,Fanny Chagnon,Vincent Ferretti,Martin Leboeuf,Jean François Olivier,Michael S. Phillips,Stéphanie Roumy,Clémentine Sallée,Andrei Verner,Thomas J. Hudson,Kelly A. Frazer,Dennis G. Ballinger,David R. Cox,David A. Hinds,Laura L. Stuve,Pui-Yan Kwok,Dongmei Cai,Daniel C. Koboldt,Raymond D. Miller,Ludmila Pawlikowska,Patricia Taillon-Miller,Ming Xiao,Lap-Chee Tsui,William Mak,Pak C. Sham,You-Qiang Song,Paul K.H. Tam,Yusuke Nakamura,Takahisa Kawaguchi,Takuya Kitamoto,Takashi Morizono,Atsushi Nagashima,Yozo Ohnishi,Akihiro Sekine,Toshihiro Tanaka,Panos Deloukas,Christine P. Bird,Marcos Delgado,Emmanouil T. Dermitzakis,Rhian Gwilliam,Sarah E. Hunt,Jonathan Morrison,Don Powell,Barbara E. Stranger,Pamela Whittaker,David R. Bentley,Paul I.W. de Bakker,Jeffrey C. Barrett,Ben Fry,Julian Maller,Steve McCarroll,Nick Patterson,Itsik Pe'er,Shaun Purcell,Daniel J. Richter,Pardis C. Sabeti,Richa Saxena,Stephen F. Schaffner,Patrick Varilly,Lincoln Stein,Lalitha Krishnan,Albert V. Smith,Gudmundur A. Thorisson,Aravinda Chakravarti,Peter E. Chen,David J. Cutler,Carl S. Kashuk,Shin Lin,Gonçalo R. Abecasis,Weihua Guan,Heather M. Munro,Zhaohui S. Qin,Daryl J. Thomas,Gilean McVean,Leonardo Bottolo,Susana Eyheramendy,Colin Freeman,Jonathan Marchini,Simon Myers,Chris C. A. Spencer,Matthew Stephens,Peter Donnelly,Lon R. Cardon,Geraldine M. Clarke,David M. Evans,Andrew P. Morris,Bruce S. Weir,Tatsuhiko Tsunoda,James C. Mullikin,Stephen T. Sherry,Michael Feolo,Houcan Zhang,Changqing Zeng,Hui Zhao,Ichiro Matsuda,Yoshimitsu Fukushima,Darryl Macer,Eiko Suda,Charles N. Rotimi,Clement Adebamowo,Ike Ajayi,Toyin Aniagwu,Patricia A. Marshall,Chibuzor Nkwodimmah,Charmaine D.M. Royal,Mark Leppert,Missy Dixon,Andy Peiffer,Renzong Qiu,Alastair Kent,Kazuto Kato,Norio Niikawa,Isaac F. Adewole,Bartha Maria Knoppers,Morris W. Foster,Ellen Wright Clayton,Jessica Watkin,Richard A. Gibbs,Donna M. Muzny,Lynne V. Nazareth,Erica Sodergren,George M. Weinstock,Imtiaz Yakub,Stacey Gabriel,Robert C. Onofrio,Liuda Ziaugra,Bruce W. Birren,Mark J. Daly,Richard K. Wilson,Lucinda Fulton,Jane Rogers,John Burton,Nigel P. Carter,C M Clee,Mark Griffiths,Matthew C. Jones,Kirsten McLay,Robert W. Plumb,Mark T. Ross,Sarah Sims,David Willey,Zhu Chen,Hua Han,L. Kang,Martin Godbout,John C. Wallenburg,Paul L'Archevêque,Guy Bellemare,Koji Saeki,Hongguang Wang,Daochang An,Hongbo Fu,Qing Li,Zhen Wang,Renwu Wang,Arthur L. Holden,Lisa D. Brooks,Jean E. McEwen,Christianne R. Bird,Mark S. Guyer,Patrick J. Nailer,Vivian Ota Wang,Jane Peterson,Michael Shi,Jack Spiegel,Lawrence M. Sung,Jonathan Witonsky,Lynn F. Zacharia,Francis S. Collins,Karen Kennedy,Ruth Jamieson,John Stewart +232 more
TL;DR: A public database of common variation in the human genome: more than one million single nucleotide polymorphisms for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted.
Journal ArticleDOI
The Jalview Java alignment editor
TL;DR: The Jalview Java alignment editor is presented here, which enables fast viewing and editing of large multiple sequence alignments.
Journal ArticleDOI
SLC24A5, a Putative Cation Exchanger, Affects Pigmentation in Zebrafish and Humans
Rebecca L. Lamason,Manzoor Ali P.K. Mohideen,Manzoor Ali P.K. Mohideen,Jason R. Mest,Andrew C.C. Wong,Andrew C.C. Wong,Heather L. Norton,Michele C. Aros,Michael J. Jurynec,Xianyun Mao,Vanessa R. Humphreville,Jasper E. Humbert,Jasper E. Humbert,Soniya Sinha,Jessica L. Moore,Jessica L. Moore,Pudur Jagadeeswaran,Wei Zhao,Gang Ning,Izabela Makalowska,Paul M. McKeigue,David H. O'Donnell,Rick A. Kittles,Esteban J. Parra,N. J. Mangini,David Grunwald,Mark D. Shriver,Victor A. Canfield,Keith C. Cheng +28 more
TL;DR: It is shown 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.
Journal ArticleDOI
Skin pigmentation, biogeographical ancestry and admixture mapping
Mark D. Shriver,Esteban J. Parra,Esteban J. Parra,Sonia Dios,Carolina Bonilla,Heather L. Norton,Celina Jovel,C. L. Pfaff,Cecily Jones,Aisha Massac,Neil Cameron,Archie Baron,Tabitha Jackson,George Argyropoulos,Li Jin,Clive J. Hoggart,Paul M. McKeigue,Rick A. Kittles +17 more
TL;DR: This work indicates that it is possible to estimate the individual ancestry of a person based on DNA analysis with a reasonable number of well-defined genetic markers, as well as applying two methods of admixture mapping to test for the effects of three candidate genes.
Journal ArticleDOI
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
Zhilan Hu,Jeannette M. Bonifas,Jenna Beech,Graham Bench,Takako Shigihara,Hideoki Ogawa,Shigaku Ikeda,Theodora M. Mauro,Ervin H. Epstein +8 more
TL;DR: The identification of mutations in ATP2C1, encoding the human homologue of an ATP-powered pump that sequesters calcium into the Golgi in yeast, is reported in 21 HHD kindreds, providing an understanding of the molecular basis of HHD and underscore the importance of calcium control to the functioning of stratified squamous epithelia.
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SLC24A5, a Putative Cation Exchanger, Affects Pigmentation in Zebrafish and Humans
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