Molecular Characterization of the Full-Length Coding Sequence of the Caprine Laminin Receptor Gene (RPSA)

Zhou, Rongyan; Li, Xianglong; Zheng, Huaiping; Li, Lanhui; Quan, Weiyao; Shen, Zunan; Tong, Jun; Yang, Qing; Fu, Qiang

doi:10.1007/s10528-010-9378-4

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“…Although the effects of this SNP on LRP/LR biology or prion biology are unknown, it is possible that the differences in combinations of amino acids may modify its specificity with other proteins affecting PrP-LRP-LR interaction, strengthening or weakening the species barrier [30]. The RPSA amino acid sequences associated with resistance barrier to scrapie infection have been identified at positions 241, 272 and 291 in goat [31], and at positions 241, 271 and 290 in sheep [30]. SNPs in UTR are known to have an effect on the expression or stability of genes.…”

Section: Discussionmentioning

confidence: 99%

The first report of RPSA polymorphisms, also called 37/67 kDa LRP/LR gene, in sporadic Creutzfeldt-Jakob disease (CJD)

et al. 2011

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BackgroundAlthough polymorphisms of PRNP, the gene encoding prion protein, are known as a determinant affecting prion disease susceptibility, other genes also influence prion incubation time. This finding offers the opportunity to identify other genetic or environmental factor (s) modulating susceptibility to prion disease. Ribosomal protein SA (RPSA), also called 37 kDa laminin receptor precursor (LRP)/67 kDa laminin receptor (LR), acts as a receptor for laminin, viruses and prion proteins. The binding/internalization of prion protein is dependent for LRP/LR.MethodsTo identify other susceptibility genes involved in prion disease, we performed genetic analysis of RPSA. For this case-control study, we included 180 sporadic Creutzfeldt-Jakob disease (CJD) patients and 189 healthy Koreans. We investigated genotype and allele frequencies of polymorphism on RPSA by direct sequencing or restriction fragment length polymorphism (RFLP) analysis.ResultsWe observed four single nucleotide polymorphisms (SNPs), including -8T>C (rs1803893) in the 5'-untranslated region (UTR) of exon 2, 134-32C>T (rs3772138) in the intron, 519G>A (rs2269350) in the intron and 793+58C>T (rs2723) in the intron on the RPSA. The 519G>A (at codon 173) is located in the direct PrP binding site. The genotypes and allele frequencies of the RPSA polymorphisms showed no significant differences between the controls and sporadic CJD patients.ConclusionThese results suggest that these RPSA polymorphisms have no direct influence on the susceptibility to sporadic CJD. This was the first genetic association study of the polymorphisms of RPSA gene with sporadic CJD.

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Section: Discussionmentioning

confidence: 99%