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Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter

Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter

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FUKAMACHI, Shoji, Masato KINOSHITA, Taro TSUJIMURA, Atsuko SHIMADA, Shoji ODA, Akihiro SHIMA, Axel MEYER, Shoji KAWAMURA, Hiroshi MITANI, 2008. Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter. In: Genetics. 178(2), pp. 761-769. ISSN 0016-6731

@article{Fukamachi2008Rescu-7718, title={Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter}, year={2008}, doi={10.1534/genetics.107.073387}, number={2}, volume={178}, issn={0016-6731}, journal={Genetics}, pages={761--769}, author={Fukamachi, Shoji and Kinoshita, Masato and Tsujimura, Taro and Shimada, Atsuko and Oda, Shoji and Shima, Akihiro and Meyer, Axel and Kawamura, Shoji and Mitani, Hiroshi} }

<rdf:RDF xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" xmlns:bibo="http://purl.org/ontology/bibo/" xmlns:dc="http://purl.org/dc/elements/1.1/" xmlns:dcterms="http://purl.org/dc/terms/" xmlns:xsd="http://www.w3.org/2001/XMLSchema#" > <rdf:Description rdf:about="https://kops.uni-konstanz.de/rdf/resource/123456789/7718"> <dc:creator>Meyer, Axel</dc:creator> <dc:format>application/pdf</dc:format> <dcterms:rights rdf:resource="https://creativecommons.org/licenses/by-nc-nd/2.0/legalcode"/> <dcterms:bibliographicCitation>First publ. in: Genetics ; 178 (2008), 2. - S. 761 769</dcterms:bibliographicCitation> <dc:creator>Shimada, Atsuko</dc:creator> <dc:creator>Shima, Akihiro</dc:creator> <dc:contributor>Shimada, Atsuko</dc:contributor> <dc:language>eng</dc:language> <dc:contributor>Kawamura, Shoji</dc:contributor> <dc:creator>Mitani, Hiroshi</dc:creator> <dc:creator>Kawamura, Shoji</dc:creator> <dc:contributor>Oda, Shoji</dc:contributor> <dc:contributor>Fukamachi, Shoji</dc:contributor> <dc:date rdf:datatype="http://www.w3.org/2001/XMLSchema#dateTime">2011-03-24T17:36:37Z</dc:date> <dc:contributor>Mitani, Hiroshi</dc:contributor> <dc:contributor>Meyer, Axel</dc:contributor> <dc:contributor>Tsujimura, Taro</dc:contributor> <dc:contributor>Shima, Akihiro</dc:contributor> <dc:creator>Kinoshita, Masato</dc:creator> <dcterms:title>Rescue From Oculocutaneous Albinism Type 4 Using Medaka slc45a2 cDNA Driven by Its Own Promoter</dcterms:title> <dcterms:issued>2008</dcterms:issued> <dc:contributor>Kinoshita, Masato</dc:contributor> <dc:creator>Fukamachi, Shoji</dc:creator> <dc:creator>Oda, Shoji</dc:creator> <dc:creator>Tsujimura, Taro</dc:creator> <dcterms:abstract xml:lang="eng">Patients and vertebrate mutants with oculocutaneous albinism type 4 (OCA4) have mutations in the solute carrier family 45 member 2 (slc45a2) gene. However, there is no empirical evidence for this gene phenotype relationship. There is a unique OCA4 mutant in medaka (b) that exhibits albinism only in the skin, but the mechanism underlying this phenotype is also unknown. In this study, we rescued medaka OCA4 phenotypes, in both the eyes and the skin, by micro-injection of an slc45a2-containing genomic fragment or slc45a2 cDNA driven by its own 0.9-kb promoter. We also identified a spontaneous nucleotide change of 339 bp in the promoter as the b mutation. There are multiple transcription start sites in medaka slc45a2, as in its human ortholog, and only the shortest and eye-specific mRNA is transcribed with the b mutation. Interestingly, we further revealed a conserved pyrimidine (Py)-rich sequence of ~10 bp in the promoter by medaka pufferfish comparative genomics and verified that it plays an indispensable role for expression of slc45a2 in the skin. Further studies of the 0.9-kb promoter identified in this study should provide insights into the cis/trans-regulatory mechanisms underlying the ocular and cutaneous expression of slc45a2.</dcterms:abstract> <dc:rights>deposit-license</dc:rights> <bibo:uri rdf:resource="http://kops.uni-konstanz.de/handle/123456789/7718"/> </rdf:Description> </rdf:RDF>

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