{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T23:30:07Z","timestamp":1773790207046,"version":"3.50.1"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,11,28]],"date-time":"2020-11-28T00:00:00Z","timestamp":1606521600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes to Cells"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The periodic albino mutant of <jats:italic>Xenopus laevis<\/jats:italic> is a recessive mutant, in which reduced amounts of melanin appear in the retinal pigment epithelium (RPE) and in melanophores at the late embryonic stage, after which both RPE and melanophores gradually depigment. Three types of pigment cells (melanophores, iridophores and xanthophores) have been reported to be affected in this albino. However, the causative gene of the periodic albinism remains unknown. Hermansky\u2013Pudlak syndrome (HPS) is an autosomal recessive disorder that affects humans and mice, which is caused by defective biogenesis of lysosome\u2010related organelles (LROs). Two subgenomes (L and S) are present in the allotetraploid frog <jats:italic>X.\u00a0laevis<\/jats:italic>. Comparison of genes between the chromosomes 1L and 1S revealed that the HPS type 4 (<jats:italic>hps4<\/jats:italic>) gene was present only in chromosome 1L. In the albino mutant, a 1.9\u00a0kb genomic deletion in the <jats:italic>hps4.L<\/jats:italic> gene including exons 7 and 8 caused a premature stop codon to create a truncated Hps4 protein. Injection of wild\u2010type <jats:italic>hps4.L<\/jats:italic> mRNA into mutant embryos rescued the albino phenotype. These findings indicate that <jats:italic>hps4<\/jats:italic> is a causative gene for the periodic albinism in <jats:italic>X.\u00a0laevis<\/jats:italic>. The phenotype of this mutant should be reassessed from the perspective of LRO biogenesis.<\/jats:p>","DOI":"10.1111\/gtc.12818","type":"journal-article","created":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T21:18:27Z","timestamp":1604524707000},"page":"31-39","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Periodic albinism of a widely used albino mutant of <i>Xenopus laevis<\/i> caused by deletion of two exons in the Hermansky\u2013Pudlak syndrome type 4 gene"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8624-393X","authenticated-orcid":false,"given":"Toshihiko","family":"Fukuzawa","sequence":"first","affiliation":[{"name":"Department of Biology Keio University Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,11,28]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-0933-5"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20683"},{"key":"e_1_2_5_4_1","first-page":"9","volume-title":"The pigmentary system: Physiology and pathophysiology","author":"Bagnara J. T.","year":"1998"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.760198"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00848630"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.228"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2012.10.019"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M300090200"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.113.154898"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2000.130306.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.2004.00135.x"},{"key":"e_1_2_5_13_1","first-page":"15","article-title":"Abnormal pigment organellogenesis in iridophores and xanthophores of the periodic albino mutant of Xenopus laevis as shown in the neural tube culture system","volume":"40","author":"Fukuzawa T.","year":"2006","journal-title":"Hiyoshi Review of Natural Science, Keio University"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-010-1042-0"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-015-2133-8"},{"key":"e_1_2_5_16_1","first-page":"65","article-title":"Further studies on the melanophores of periodic albino mutant of Xenopus laevis","volume":"91","author":"Fukuzawa T.","year":"1986","journal-title":"Journal of Embryology and Experimental Morphology"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2012.09.020"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1165\/rcmb.2004-0293OC"},{"key":"e_1_2_5_19_1","first-page":"253","article-title":"The development of animals homozygous for a mutation causing periodic albinism (a\n                  \n                     p\n                  ) in Xenopus laevis","volume":"34","author":"Hoperskaya O. A.","year":"1975","journal-title":"Journal of Embryology and Experimental Morphology"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-0436.1981.tb01164.x"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.069088"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00438-017-1302-8"},{"key":"e_1_2_5_23_1","first-page":"165","article-title":"An analysis of pigment cell development in the periodic albino mutant of Xenopus","volume":"52","author":"MacMillan G. J.","year":"1979","journal-title":"Journal of Embryology and Experimental Morphology"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01963222"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2013.04.008"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M301294200"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1159\/000381292"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2016.08.020"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1532040100"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2002.19535.x"},{"key":"e_1_2_5_31_1","volume-title":"Normal table of Xenopus laevis (Daudin)","author":"Nieuwkoop P. D.","year":"1967"},{"key":"e_1_2_5_32_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA119.007345"},{"key":"e_1_2_5_33_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19082203"},{"key":"e_1_2_5_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2258"},{"key":"e_1_2_5_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00218284"},{"key":"e_1_2_5_36_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19840"},{"key":"e_1_2_5_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng835"},{"key":"e_1_2_5_38_1","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1111\/pcmr.12051","article-title":"Hermansky\u2010Pudlak syndrome: Pigmentary and non\u2010pigmentary defects and their pathogenesis","volume":"26","author":"Wei A. H.","year":"2012","journal-title":"Pigment Cell & Melanoma Research"},{"key":"e_1_2_5_39_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000016899"}],"container-title":["Genes to Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/gtc.12818","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/gtc.12818","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/gtc.12818","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T19:05:16Z","timestamp":1693767916000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/gtc.12818"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,28]]},"references-count":38,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1111\/gtc.12818"],"URL":"https:\/\/doi.org\/10.1111\/gtc.12818","archive":["Portico"],"relation":{},"ISSN":["1356-9597","1365-2443"],"issn-type":[{"value":"1356-9597","type":"print"},{"value":"1365-2443","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,28]]},"assertion":[{"value":"2020-09-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}