{"created":"2021-03-01T06:20:44.594891+00:00","id":4087,"links":{},"metadata":{"_buckets":{"deposit":"acf66b90-b3ab-4cb2-9896-91bfea3bfb38"},"_deposit":{"id":"4087","owners":[],"pid":{"revision_id":0,"type":"depid","value":"4087"},"status":"published"},"_oai":{"id":"oai:repository.dl.itc.u-tokyo.ac.jp:00004087","sets":["125:355:356","9:233:280"]},"item_7_alternative_title_1":{"attribute_name":"その他のタイトル","attribute_value_mlt":[{"subitem_alternative_title":"Na+-HCO3-共輸送体(NBCe1)の単一アミノ酸置換を伴うSNP変異体の機能解析"}]},"item_7_biblio_info_7":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2011-03-24","bibliographicIssueDateType":"Issued"},"bibliographic_titles":[{}]}]},"item_7_date_granted_25":{"attribute_name":"学位授与年月日","attribute_value_mlt":[{"subitem_dategranted":"2011-03-24"}]},"item_7_degree_grantor_23":{"attribute_name":"学位授与機関","attribute_value_mlt":[{"subitem_degreegrantor":[{"subitem_degreegrantor_name":"University of Tokyo (東京大学)"}]}]},"item_7_degree_name_20":{"attribute_name":"学位名","attribute_value_mlt":[{"subitem_degreename":"博士(医学)"}]},"item_7_description_5":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"The electrogenic Na+-HCO3- cotransporter NBCe1 encoded by SLC4A4 plays essential roles in the regulation of intracellular/extracellular pH. Homozygous mutations in NBCe1 cause proximal renal tubular acidosis associated with ocular abnormalities. In the present study I tried to perform functional characterization of the 4 nonsynonymous single nucleotide polymorphisms (SNPs), E122G, S356Y, K558R, and N640I in NBCe1A. Functional analysis in Xenopus oocytes revealed that while the K558R variant had a significantly reduced transport activity corresponding to 47% of the wild-type activity, the remaining variants E122G, S356Y and N640I did not change the NBCe1A activity. Apparent Na+ affinity of K558R was not different from that of wild-type NBCe1A. Immunohistological analyses in HEK293 cells and MDCK cells indicated that none of these SNPs changed the trafficking behaviors of NBCe1A. Functional analysis in HEK293 cells also revealed that only the K558R variant had a reduced transport activity, corresponding to 41 - 47% of the wild-type activity. From these results I conclude that among 4 SNPs only the K558R variant, which is predicted to lie in transmembrane segment 5, significantly reduces the NBCe1A activity without changing the trafficking behavior or the apparent extracellular Na+ affinity.","subitem_description_type":"Abstract"}]},"item_7_dissertation_number_26":{"attribute_name":"学位授与番号","attribute_value_mlt":[{"subitem_dissertationnumber":"甲第27070号"}]},"item_7_full_name_3":{"attribute_name":"著者別名","attribute_value_mlt":[{"nameIdentifiers":[{"nameIdentifier":"9418","nameIdentifierScheme":"WEKO"}],"names":[{"name":"山崎, 修"}]}]},"item_7_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.15083/00004078","subitem_identifier_reg_type":"JaLC"}]},"item_7_select_21":{"attribute_name":"学位","attribute_value_mlt":[{"subitem_select_item":"doctoral"}]},"item_7_subject_13":{"attribute_name":"日本十進分類法","attribute_value_mlt":[{"subitem_subject":"490","subitem_subject_scheme":"NDC"}]},"item_7_text_22":{"attribute_name":"学位分野","attribute_value_mlt":[{"subitem_text_value":"Medical Science(医学)"}]},"item_7_text_24":{"attribute_name":"研究科・専攻","attribute_value_mlt":[{"subitem_text_value":"Department of Internal Medicine, Graduate School of Medicine (医学系研究科内科学専攻)"}]},"item_7_text_27":{"attribute_name":"学位記番号","attribute_value_mlt":[{"subitem_text_value":"博医第3680号"}]},"item_7_text_4":{"attribute_name":"著者所属","attribute_value_mlt":[{"subitem_text_value":"東京大学大学院医学系研究科内科学専攻"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Yamazaki, Osamu"}],"nameIdentifiers":[{"nameIdentifier":"9417","nameIdentifierScheme":"WEKO"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2017-06-01"}],"displaytype":"detail","filename":"h22_yamazaki.pdf","filesize":[{"value":"2.1 MB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"h22_yamazaki.pdf","url":"https://repository.dl.itc.u-tokyo.ac.jp/record/4087/files/h22_yamazaki.pdf"},"version_id":"4a5bbdea-d505-4bd0-b430-9e2d3ae87b64"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"pRTA","subitem_subject_scheme":"Other"},{"subitem_subject":"SLC4A4","subitem_subject_scheme":"Other"},{"subitem_subject":"SNP","subitem_subject_scheme":"Other"},{"subitem_subject":"renal proximal tubules","subitem_subject_scheme":"Other"}]},"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":"thesis","resourceuri":"http://purl.org/coar/resource_type/c_46ec"}]},"item_title":"Functional analysis of SNP mutations leading to single amino acid substitution in NBCe1","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Functional analysis of SNP mutations leading to single amino acid substitution in NBCe1"}]},"item_type_id":"7","owner":"1","path":["280","356"],"pubdate":{"attribute_name":"公開日","attribute_value":"2012-11-08"},"publish_date":"2012-11-08","publish_status":"0","recid":"4087","relation_version_is_last":true,"title":["Functional analysis of SNP mutations leading to single amino acid substitution in NBCe1"],"weko_creator_id":"1","weko_shared_id":null},"updated":"2022-12-19T03:45:50.843319+00:00"}