{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T17:47:50Z","timestamp":1791827270917,"version":"4.3.4"},"reference-count":46,"publisher":"National Academy of Sciences","issue":"10","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2003,5,13]]},"abstract":"<jats:p>\n                    MITF, TFE3, TFEB, and TFEC comprise a transcription factor family (MiT) that regulates key developmental pathways in several cell lineages. Like MYC, MiT members are basic helix-loop-helix-leucine zipper transcription factors. MiT members share virtually perfect homology in their DNA binding domains and bind a common DNA motif. Translocations of\n                    <jats:italic>TFE3<\/jats:italic>\n                    occur in specific subsets of human renal cell carcinomas and in alveolar soft part sarcomas. Although multiple translocation partners are fused to\n                    <jats:italic>TFE3<\/jats:italic>\n                    , each translocation product retains TFE3's basic helix\u2013loop\u2013helix leucine zipper. We have identified the genes fused by the chromosomal translocation t(6;11)(p21.1;q13), characteristic of another subset of renal neoplasms. In two primary tumors we found that\n                    <jats:italic>Alpha<\/jats:italic>\n                    , an intronless gene, rearranges with the first intron of\n                    <jats:italic>TFEB<\/jats:italic>\n                    , just upstream of TFEB's initiation ATG, preserving the entire TFEB coding sequence. Fluorescence\n                    <jats:italic>in situ<\/jats:italic>\n                    hybridization confirmed the involvement of both\n                    <jats:italic>TFEB<\/jats:italic>\n                    and\n                    <jats:italic>Alpha<\/jats:italic>\n                    in this translocation. Although the\n                    <jats:italic>Alpha<\/jats:italic>\n                    promoter drives expression of this fusion gene, the Alpha gene does not contribute to the ORF. Whereas TFE3 is typically fused to partner proteins in subsets of renal tumors, we found that wild-type, unfused TFE3 stimulates clonogenic growth in a cell-based assay, suggesting that dysregulated expression, rather than altered function of TFEB or TFE3 fusions, may confer neoplastic properties, a mechanism reminiscent of MYC activation by promoter substitution in Burkitt's lymphoma.\n                    <jats:italic>Alpha-TFEB<\/jats:italic>\n                    is thus identified as a fusion gene in a subset of pediatric renal neoplasms.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0931430100","type":"journal-article","created":{"date-parts":[[2003,5,13]],"date-time":"2003-05-13T14:28:41Z","timestamp":1052836121000},"page":"6051-6056","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":224,"title":["Cloning of an\n                    <i>Alpha-TFEB<\/i>\n                    fusion in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation"],"prefix":"10.1073","volume":"100","author":[{"given":"Ian J.","family":"Davis","sequence":"first","affiliation":[{"name":"Department of Pediatric Oncology, Dana\u2013Farber Cancer Institute, Boston, MA 02115; Departments of Medicine and Pathology, Children's Hospital Boston, Boston, MA 02115; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115; Department of Pathology, Memorial Sloan\u2013Kettering Cancer Center, New York, NY 10021; and Department of Pathology, The Johns Hopkins Hospital, Baltimore, MD 21287"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bae-Li","family":"Hsi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Dana\u2013Farber Cancer Institute, Boston, MA 02115; Departments of Medicine and Pathology, Children's Hospital Boston, Boston, MA 02115; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115; Department of Pathology, Memorial Sloan\u2013Kettering Cancer Center, New York, NY 10021; and Department of Pathology, The Johns Hopkins Hospital, Baltimore, MD 21287"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason D.","family":"Arroyo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Dana\u2013Farber Cancer Institute, Boston, MA 02115; Departments of Medicine and Pathology, Children's Hospital Boston, Boston, MA 02115; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115; Department of Pathology, Memorial Sloan\u2013Kettering Cancer Center, New York, NY 10021; and Department of Pathology, The Johns Hopkins Hospital, Baltimore, MD 21287"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara O.","family":"Vargas","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Dana\u2013Farber Cancer Institute, Boston, MA 02115; Departments of Medicine and Pathology, Children's Hospital Boston, Boston, MA 02115; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115; Department of Pathology, Memorial Sloan\u2013Kettering Cancer Center, New York, NY 10021; and Department of Pathology, The Johns Hopkins Hospital, Baltimore, MD 21287"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y. Albert","family":"Yeh","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Dana\u2013Farber Cancer Institute, Boston, MA 02115; Departments of Medicine and Pathology, Children's Hospital Boston, Boston, MA 02115; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115; Department of Pathology, Memorial Sloan\u2013Kettering Cancer Center, New York, NY 10021; and Department of Pathology, The Johns Hopkins Hospital, Baltimore, MD 21287"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Motyckova","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Dana\u2013Farber Cancer Institute, Boston, MA 02115; Departments of Medicine and Pathology, Children's Hospital Boston, Boston, MA 02115; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115; Department of Pathology, Memorial Sloan\u2013Kettering Cancer Center, New York, NY 10021; and Department of Pathology, The Johns Hopkins Hospital, Baltimore, MD 21287"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Valencia","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Dana\u2013Farber Cancer Institute, Boston, MA 02115; Departments of Medicine and Pathology, Children's Hospital Boston, Boston, MA 02115; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115; Department of Pathology, Memorial Sloan\u2013Kettering Cancer Center, New York, NY 10021; and Department of Pathology, The Johns Hopkins Hospital, Baltimore, MD 21287"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio R.","family":"Perez-Atayde","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Dana\u2013Farber Cancer Institute, Boston, MA 02115; Departments of Medicine and Pathology, Children's Hospital Boston, Boston, MA 02115; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115; Department of Pathology, Memorial Sloan\u2013Kettering Cancer Center, New York, NY 10021; and Department of Pathology, The Johns Hopkins Hospital, Baltimore, MD 21287"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedram","family":"Argani","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Dana\u2013Farber Cancer Institute, Boston, MA 02115; Departments of Medicine and Pathology, Children's Hospital Boston, Boston, MA 02115; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115; Department of Pathology, Memorial Sloan\u2013Kettering Cancer Center, New York, NY 10021; and Department of Pathology, The Johns Hopkins Hospital, Baltimore, MD 21287"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Ladanyi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Dana\u2013Farber Cancer Institute, Boston, MA 02115; Departments of Medicine and Pathology, Children's Hospital Boston, Boston, MA 02115; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115; Department of Pathology, Memorial Sloan\u2013Kettering Cancer Center, New York, NY 10021; and Department of Pathology, The Johns Hopkins Hospital, Baltimore, MD 21287"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan A.","family":"Fletcher","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Dana\u2013Farber Cancer Institute, Boston, MA 02115; Departments of Medicine and Pathology, Children's Hospital Boston, Boston, MA 02115; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115; Department of Pathology, Memorial Sloan\u2013Kettering Cancer Center, New York, NY 10021; and Department of Pathology, The Johns Hopkins Hospital, Baltimore, MD 21287"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David E.","family":"Fisher","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology, Dana\u2013Farber Cancer Institute, Boston, MA 02115; Departments of Medicine and Pathology, Children's Hospital Boston, Boston, MA 02115; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115; Department of Pathology, Memorial Sloan\u2013Kettering Cancer Center, New York, NY 10021; and Department of Pathology, The Johns Hopkins Hospital, Baltimore, MD 21287"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2003,4,28]]},"reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.4.2.167"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1840705"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.5.6.1057"},{"key":"e_1_3_2_4_2","first-page":"4384","volume":"10","author":"Carr C S","year":"1990","unstructured":"C S Carr, P A Sharp Mol Cell Biol 10, 4384\u20134388 (1990).","journal-title":"Mol Cell Biol"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90429-T"},{"key":"e_1_3_2_6_2","first-page":"4505","volume":"13","author":"Zhao G Q","year":"1993","unstructured":"G Q Zhao, Q Zhao, X Zhou, M G Mattei, B de Crombrugghe Mol Cell Biol 13, 4505\u20134512 (1993).","journal-title":"Mol Cell Biol"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-256"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.072071099"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.8.22.2770"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90122-7"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-251"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.125.23.4607"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(01)00360-4"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(02)00762-6"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.9.1333"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.26.15294"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1201394"},{"key":"e_1_3_2_18_2","first-page":"4130","volume":"61","author":"Heimann P","year":"2001","unstructured":"P Heimann, H El Housni, G Ogur, M A J Weterman, E M Petty, G Vassart Cancer Res 61, 4130\u20134135 (2001).","journal-title":"Cancer Res"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)61684-7"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1204074"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1203255"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1204056"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.241304198"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)64680-9"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199102143240702"},{"key":"e_1_3_2_26_2","first-page":"896","volume":"147","author":"Xiao S","year":"1995","unstructured":"S Xiao, A Renshaw, E S Cibas, T J Hudson, J A Fletcher Am J Pathol 147, 896\u2013904 (1995).","journal-title":"Am J Pathol"},{"key":"e_1_3_2_27_2","volume-title":"Molecular Cloning: A Laboratory Manual","author":"Sambrook J","year":"2001","unstructured":"J Sambrook, D W Russell Molecular Cloning: A Laboratory Manual (Cold Spring Harbor Lab. 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