Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis.
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.
Department of Genetics and Molecular Biology, Xi'an Jiaotong University School of Medicine, Xi'an, Shaanxi 710061, PR China.
Daxu
D
Li
Xiaoyun
X
Du
Rui
R
Zhang
Bo
B
Shen
Yanli
Y
Huang
Robert K
RK
Valenzuela
Bin
B
Wang
Huaxiang
H
Zhao
Zunwei
Z
Liu
Jianjun
J
Li
Zhao
Z
Xu
Linghan
L
Gao
Jie
J
Ma
D044466:Asian People / Q000235:genetics; D002681:China; D002877:Chromosomes, Human / Q000235:genetics; D019295:Computational Biology / Q000379:methods*; D003811:Dentinogenesis Imperfecta / Q000235:genetics*; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010750:Phosphoproteins / Q000235:genetics* / Q000378:metabolism; D017422:Sequence Analysis, DNA / Q000379:methods; D012795:Sialoglycoproteins / Q000235:genetics* / Q000378:metabolism; D000099311:Dentin Sialophosphoprotein
D016326:Extracellular Matrix Proteins; D010750:Phosphoproteins; D012795:Sialoglycoproteins; D000099311:Dentin Sialophosphoprotein