Russian Journal of Genetics

, Volume 54, Issue 3, pp 353–357 | Cite as

The First Report on Single Nucleotide Polymorphisms of the HSPA13 Gene in Koreans

  • Ch.-H. Yun
  • Y.-Ch. Kim
  • B.-H. Jeong
Medical Genetics


Heat shock proteins (HSPs) are known as molecular chaperones, and they function in response to cell stress. HSPA13, also called STCH, 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 of HSPA13 was shown to shorten the incubation time of prion diseases. Although the exact role of HSPA13 in the pathogenesis of prion diseases remains unknown, the expression level of HSPA13 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 of HSPA13 in healthy Korean population to obtain the information for subsequent population genetics and prion diseases studies. We observed four SNPs in the promoter region of HSPA13, 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 human HSPA13 gene.


HSPA13 heat shock protein single nucleotide polymorphism Korean population 


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Copyright information

© Pleiades Publishing, Inc. 2018

Authors and Affiliations

  1. 1.Korea Zoonosis Research InstituteChonbuk National UniversityIksanRepublic of Korea
  2. 2.Department of Bioactive Material SciencesChonbuk National UniversityJeonjuRepublic of Korea

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