Literature DB >> 24024899

Human dopamine transporter gene: differential regulation of 18-kb haplotypes.

Ying Zhao1, Nian Xiong, Yang Liu, Yanhong Zhou, Nuomin Li, Hong Qing, Zhicheng Lin.   

Abstract

AIM: Since previous functional studies of short haplotypes and polymorphic sites of SLC6A3 have shown variant-dependent and drug-sensitive promoter activity, this study aimed to understand whether a large SLC6A3 regulatory region, containing these small haplotypes and polymorphic sites, can display haplotype-dependent promoter activity in a drug-sensitive and pathway-related manner. MATERIALS &
METHODS: By creating and using a single copy number luciferase-reporter vector, we examined regulation of two different SLC6A3 haplotypes (A and B) of the 5´ 18-kb promoter and two known downstream regulatory variable number tandem repeats by 17 drugs in four different cellular models.
RESULTS: The two regulatory haplotypes displayed up to 3.2-fold difference in promoter activity. The regulations were drug selective (37.5% of the drugs showed effects), and both haplotype and cell type dependent. Pathway analysis revealed at least 13 main signaling hubs targeting SLC6A3, including histone deacetylation, AKT, PKC and CK2 α-chains.
CONCLUSION: SLC6A3 may be regulated via either its promoter or the variable number tandem repeats independently by specific signaling pathways and in a haplotype-dependent manner. Furthermore, we have developed the first pathway map for SLC6A3 regulation. These findings provide a framework for understanding complex and variant-dependent regulations of SLC6A3.

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Year:  2013        PMID: 24024899      PMCID: PMC3870138          DOI: 10.2217/pgs.13.141

Source DB:  PubMed          Journal:  Pharmacogenomics        ISSN: 1462-2416            Impact factor:   2.533


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