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Analysis of Minisatellite 7 of SLC6A19 (SLC6A19-MS7) for the Relationship to Myocardial Infarction and Evolutional Level  

Seol, So-Young (Department of Biological Science, Donga-A University)
Lee, Sang-Yeop (Department of Biological Science, Donga-A University)
Yum, Ji-Hoon (Department of Biological Science, Donga-A University)
Yoon, Hae-Soon (Department of Biological Science, Donga-A University)
SunWoo, Yang-Il (Department of Biological Science, Donga-A University)
Publication Information
YAKHAK HOEJI / v.54, no.1, 2010 , pp. 49-54 More about this Journal
Abstract
SLC6A19 which reported as a neurotransmitter was composed of seven minisatellites. In previous our study, the minisatellites variants of SLC6A19-MS7 showed the susceptibility for hypertension. When this minisatellte sequences were analyzed using the bioinformatic tool, USF1 (upstream transcription factor 1) was found in this region as a putative transcription factor binding site. USF1 is binding with E-boxes which has a consensus sequence of CACGTG. USF1 is a ubiquitously expressed transcription factor and involved in the transcriptional control of many genes including the molecular pathogenesis of cardiovascular disease. Thus, we investigated that the putative functional relationship between the minisatellites variants and susceptibility for myocardial infarction. A case-control study was performed that compared genomic DNA from 400 controls and 225 cases with myocardial infarction. There were no significant differences observed in the overall allelic distribution of minisatellites between controls and cases, which indicates that this polymorphism is not responsible for myocardial infarction susceptibility. Hence, we analyzed the five different minisatellites alleles from this study and characterized 14 different repeats units (Unit1~Unit14). Then, we evaluated the DNA composition, phylogenic tree, and pairwise distances of its repeats. The variability of each repeats differed from 2.33% to 16%. The phylogenic trees for the four SLC6A19-MS7 minisatellites exhibited very different shapes in their braches and distances, and present most common 8 repeats allele was the longest 14 repeats allele. Therefore, this result may help to understand for the evolutional level of the length of minisatellites.
Keywords
SLC6A19-MS7; myocardial infarction; USF1; minisatellites evolution;
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