1. The First Report on Single Nucleotide Polymorphisms of the <italic>HSPA13</italic> Gene in Koreans.
- Author
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Yun, Ch.-H., Kim, Y.-Ch., and Jeong, B.-H.
- Subjects
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SINGLE nucleotide polymorphisms , *GENETIC polymorphisms , *NEURODEGENERATION , *GENES , *HEAT shock proteins - Abstract
Heat shock proteins (HSPs) are known as molecular chaperones, and they function in response to cell stress.
HSPA13 , also calledSTCH , is a member of the HSP70 family. In general, HSP70 family may play a protective role in prion diseases. In a recent study, the overexpression ofHSPA13 was shown to shorten the incubation time of prion diseases. Although the exact role ofHSPA13 in the pathogenesis of prion diseases remains unknown, the expression level ofHSPA13 is significantly associated with the latent phase of prion diseases. It has been known that single nucleotide polymorphisms (SNPs) in promoter and open reading frame (ORF) region of genes can affect either gene expression or gene function. The purpose of this study was to investigate genotype and allele frequencies of SNPs found in the promoter and ORF ofHSPA13 in healthy Korean population to obtain the information for subsequent population genetics and prion diseases studies. We observed four SNPs in the promoter region ofHSPA13 , of which two have previous identified (c.-608C>G; rs2242662 and c.-381G>A; rs2242661) and two are novel (c.-321C>T and c.-300A>G). Interestingly, we did not observe any polymorphisms in the ORF of this gene. To our knowledge, this is the first study of polymorphisms in the humanHSPA13 gene. [ABSTRACT FROM AUTHOR]- Published
- 2018
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