PMID- 36274817 OWN - NLM STAT- MEDLINE DCOM- 20221026 LR - 20221031 IS - 1090-0535 (Electronic) IS - 1090-0535 (Linking) VI - 28 DP - 2022 TI - Dopachrome tautomerase is a retinoblastoma-specific gene, and its proximal promoter is preferentially active in human retinoblastoma cells. PG - 192-202 AB - PURPOSE: Retinoblastoma (RB) is a malignant childhood intraocular tumor. Current treatment options for RB have undesirable side effects. A comprehensive understanding of gene expression in human RB is essential for the development of safe and effective new therapies. METHODS: We reviewed published microarray and RNA sequencing studies in which gene expression profiles were compared between human RB and normal retina tissues. We investigated the expression of genes of interest using quantitative reverse transcription PCR. We examined the activities of cloned promoter DNA fragments with luciferase assay. RESULTS: Dopachrome tautomerase (DCT) was among the most overexpressed genes in RB in published studies. We found that DCT was highly expressed in six of 13 samples microdissected from Thai RB tissues. Expression of DCT was absent or barely detected in retina tissues, various human ocular cells, and major organs. We also demonstrated that the -657 to +411 DCT promoter fragment efficiently directs RB cell-specific transcription of the luciferase reporter gene in cell lines. CONCLUSIONS: The present work highlights that DCT is one of the most RB-specific genes. The regulatory elements required for this cell-specific gene expression are likely located within its proximal promoter. CI - Copyright (c) 2022 Molecular Vision. FAU - Moolsuwan, Kanya AU - Moolsuwan K AD - Graduate Program in Molecular Medicine, Faculty of Science, Mahidol University, Bangkok, Thailand. FAU - Permpoon, Tiravut AU - Permpoon T AD - Clinical Molecular Pathology Laboratory, Department of Clinical Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. FAU - Sae-Lee, Chanachai AU - Sae-Lee C AD - Research Division, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. FAU - Uiprasertkul, Mongkol AU - Uiprasertkul M AD - Department of Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. FAU - Boonyaratanakornkit, Viroj AU - Boonyaratanakornkit V AD - Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok, Thailand. FAU - Yenchitsomanus, Pa-Thai AU - Yenchitsomanus PT AD - Division of Molecular Medicine, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. FAU - Poungvarin, Naravat AU - Poungvarin N AD - Clinical Molecular Pathology Laboratory, Department of Clinical Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. FAU - Atchaneeyasakul, La-Ongsri AU - Atchaneeyasakul LO AD - Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Review DEP - 20220807 PL - United States TA - Mol Vis JT - Molecular vision JID - 9605351 RN - EC 5.3.3.12 (dopachrome isomerase) RN - EC 5.3.- (Intramolecular Oxidoreductases) SB - IM MH - Child MH - Humans MH - Gene Expression Regulation, Neoplastic MH - Genes, Retinoblastoma/genetics MH - *Intramolecular Oxidoreductases/genetics/metabolism MH - *Retinal Neoplasms/genetics MH - *Retinoblastoma/genetics/pathology PMC - PMC9491246 EDAT- 2022/10/25 06:00 MHDA- 2022/10/26 06:00 PMCR- 2022/01/01 CRDT- 2022/10/24 03:47 PHST- 2021/11/11 00:00 [received] PHST- 2022/08/05 00:00 [accepted] PHST- 2022/10/24 03:47 [entrez] PHST- 2022/10/25 06:00 [pubmed] PHST- 2022/10/26 06:00 [medline] PHST- 2022/01/01 00:00 [pmc-release] AID - 17 [pii] PST - epublish SO - Mol Vis. 2022 Aug 7;28:192-202. eCollection 2022.