کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2820991 | 1160913 | 2012 | 7 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis](/preview/png/2820991.png)
In this study, through linkage analysis of a four-generation Chinese family with multiple members afflicted with DGI (type II), we identified a novel missense mutation in DSPP. The mutation was located in exon 2 at the second nucleotide position of the last codon and resulted in a substitution of a proline with a leucine residue (c.50C>T, p.P17L, g.50C>T). To assess the potential effects of this novel mutation, we utilized various bioinformatics analysis programs. The results indicate that the mutation likely affects protein cleavage/trafficking. We also analyzed previously reported mutations of DSPP. In summary, our finding supports that the genomic sequence that corresponds to the P17 residue of DSPP is a mutational hotspot and P17 may be critical for the function of DSPP.
► We identified a novel missense DSPP mutation in a Chinese family with DGI-II.
► Basing on bioinformatics analysis, the mutation is likely to affect protein cleavage.
► Using bioinformatics programs, we analyzed previously reported DSPP mutations.
► Our study enhances the understanding of a molecular basis for the DGI-II.
Journal: Genomics - Volume 99, Issue 4, April 2012, Pages 220–226