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RT-PCR analysis revealed that this novel mutation, named ru2d/Hps5ru2-d, exhibited\nframeshift by 997G deletion in the Hps5 gene. To clarify the mechanism of the hypopigmentation,\nthe characteristics of proliferation and differentiation of ru2d/ru2d epidermal melanoblasts and melanocytes\ncultured in a serum-free medium were investigated. The proliferation of ru2d/ru2d melanoblasts\nand melanocytes did not differ from that of +/+ melanoblasts and melanocytes. However, the\ndifferentiation of ru2d/ru2d melanocytes was greatly inhibited. Tyrosinase (TYR) activity, expression\nof TYR, TYR-related protein 1 (TRP1) and TRP2 (dopachrome tautomerase, DCT), eumelanin synthesis,\nand the number of stage IV melanosomes markedly decreased in ru2d/ru2d melanocytes.\nHowever, excess L-tyrosine (Tyr) added to culture media from initiation of the primary culture rescued\nthe reduced differentiation through increase in TYR activity, expression of TYR, TRP1, TRP2\nand Kit, eumelanin synthesis, and stage IV melanosomes. L-Tyr injected into ru2d/ru2d mice also\nstimulated melanocyte differentiation. These results suggest that the ru2d allele inhibits melanocyte\ndifferentiation, and that its impaired differentiation is rescued by excess Tyr.", "subitem_description_type": "Abstract"}]}, "item_8_source_id_9": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "0289-0003", "subitem_source_identifier_type": "ISSN"}]}, "item_access_right": {"attribute_name": "アクセス権", "attribute_value_mlt": [{"subitem_access_right": "metadata only access", "subitem_access_right_uri": "http://purl.org/coar/access_right/c_14cb"}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Hirobe, Tomohisa"}], "nameIdentifiers": [{"nameIdentifier": "460172", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Yoshihara, Chihiro"}], "nameIdentifiers": [{"nameIdentifier": "460173", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Takeuchi, Sakae"}], "nameIdentifiers": [{"nameIdentifier": "460174", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Wakamatsu, Kazumasa"}], "nameIdentifiers": [{"nameIdentifier": "460175", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Ito, Shosuke"}], "nameIdentifiers": [{"nameIdentifier": "460176", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Abe, Hiroyuki"}], "nameIdentifiers": [{"nameIdentifier": "460177", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Kawa, Yoko"}], "nameIdentifiers": [{"nameIdentifier": "460178", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Soma, Yoshinao"}], "nameIdentifiers": [{"nameIdentifier": "460179", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "廣部 知久", "creatorNameLang": "en"}], "nameIdentifiers": [{"nameIdentifier": "460180", "nameIdentifierScheme": "WEKO"}]}]}, "item_language": {"attribute_name": "言語", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"resourcetype": "journal article", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "A Novel Deletion Mutation of Mouse Ruby-eye 2 Named ru2d/Hps5ru2-d Inhibits Melanocyte Differentiation and Its Impaired Differentiation is Rescued by L-tyrosine", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "A Novel Deletion Mutation of Mouse Ruby-eye 2 Named ru2d/Hps5ru2-d Inhibits Melanocyte Differentiation and Its Impaired Differentiation is Rescued by L-tyrosine"}]}, "item_type_id": "8", "owner": "1", "path": ["1"], "permalink_uri": "https://repo.qst.go.jp/records/46213", "pubdate": {"attribute_name": "公開日", "attribute_value": "2011-11-22"}, "publish_date": "2011-11-22", "publish_status": "0", "recid": "46213", "relation": {}, "relation_version_is_last": true, "title": ["A Novel Deletion Mutation of Mouse Ruby-eye 2 Named ru2d/Hps5ru2-d Inhibits Melanocyte Differentiation and Its Impaired Differentiation is Rescued by L-tyrosine"], "weko_shared_id": -1}
A Novel Deletion Mutation of Mouse Ruby-eye 2 Named ru2d/Hps5ru2-d Inhibits Melanocyte Differentiation and Its Impaired Differentiation is Rescued by L-tyrosine
https://repo.qst.go.jp/records/46213
https://repo.qst.go.jp/records/46213ef1b9798-3719-4a92-bdf0-cc7fcb510abe
Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2011-11-22 | |||||
タイトル | ||||||
タイトル | A Novel Deletion Mutation of Mouse Ruby-eye 2 Named ru2d/Hps5ru2-d Inhibits Melanocyte Differentiation and Its Impaired Differentiation is Rescued by L-tyrosine | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
アクセス権 | ||||||
アクセス権 | metadata only access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
著者 |
Hirobe, Tomohisa
× Hirobe, Tomohisa× Yoshihara, Chihiro× Takeuchi, Sakae× Wakamatsu, Kazumasa× Ito, Shosuke× Abe, Hiroyuki× Kawa, Yoko× Soma, Yoshinao× 廣部 知久 |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | In our laboratory, a single autosomal recessive mutation in a phenotype similar to ruby-eye (ru/ Hps6ru) or ruby-eye 2 (ru2/Hps5ru2) spontaneously occurred in siblings of C57BL/10JHir (+/+, black) mice in 2006. RT-PCR analysis revealed that this novel mutation, named ru2d/Hps5ru2-d, exhibited frameshift by 997G deletion in the Hps5 gene. To clarify the mechanism of the hypopigmentation, the characteristics of proliferation and differentiation of ru2d/ru2d epidermal melanoblasts and melanocytes cultured in a serum-free medium were investigated. The proliferation of ru2d/ru2d melanoblasts and melanocytes did not differ from that of +/+ melanoblasts and melanocytes. However, the differentiation of ru2d/ru2d melanocytes was greatly inhibited. Tyrosinase (TYR) activity, expression of TYR, TYR-related protein 1 (TRP1) and TRP2 (dopachrome tautomerase, DCT), eumelanin synthesis, and the number of stage IV melanosomes markedly decreased in ru2d/ru2d melanocytes. However, excess L-tyrosine (Tyr) added to culture media from initiation of the primary culture rescued the reduced differentiation through increase in TYR activity, expression of TYR, TRP1, TRP2 and Kit, eumelanin synthesis, and stage IV melanosomes. L-Tyr injected into ru2d/ru2d mice also stimulated melanocyte differentiation. These results suggest that the ru2d allele inhibits melanocyte differentiation, and that its impaired differentiation is rescued by excess Tyr. |
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書誌情報 |
Zoological Science 巻 28, 号 11, p. 790-801, 発行日 2011-11 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 0289-0003 |