Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci
Refined mapping of the human dentin sialophosphoprotein (DSPP) gene within the critical dentinogenesis imperfecta type II and dentin dysplasia type II loci
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DOI：
10.1111/j.1600-0722.1998.tb02180.x
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发表时间：
1998-01-01
影响因子：
1.9
通讯作者：
MacDougall, M
中科院分区：
文献类型：
--
作者：
MacDougall, M
牙本质发育异常II型和牙本质发育不良II型是导致牙本质形成异常的疾病，其已被定位于人类染色体4 q的重叠区域，分别由标记D4 S2691和D4 S2692（6.6cM）和D4 S3291和SPP 1（14.1cM）限定。最近，牙本质的两种主要非胶原蛋白，牙本质涎蛋白（DSP）和牙本质磷蛋白（DPP，phosphophoryn）已被证明是由一个单一的基因编码，称为牙本质涎磷蛋白（DSPP），已被定位到人类4号染色体。本研究的目的是通过基因内容定位对与这些疾病位点相关的DSPP进行精细定位，以及通过序列标记位点（STS）内容定位将DSPP基因定位到人类4号染色体的物理图谱上。分离人基因组DSPP克隆，并使用牙本质基质蛋白1（DMP 1）、骨唾液蛋白（BSP）和骨桥蛋白（分泌型磷蛋白1，SPP 1）的特异性引物进行基因内容物作图。STS内容映射，然后进行侧翼STS标记，这些牙本质/骨基因位点。我们的结果表明，DSPP和DMP 1基因的最大距离为110 kb。DSPP和D4 S1291都已被定位在人类4号染色体物理图谱上，位于标记D4 S564和D4 S1291所限定的区间内。因此，DSPP作为DGI-II和DD-II的候选基因得到加强。
Dentinogenesis imperfecta type II and dentin dysplasia type II are diseases resulting in abnormal dentin formation, which have been mapped to overlapping regions of human chromosome 4q defined by markers D4S2691 and D4S2692 (6.6 cM) and D4S3291 and SPP1 (14.1 cM), respectively. Recently, two of the major non-collagenous proteins of dentin, dentin sialoprotein (DSP) and dentin phosphoprotein (DPP, phosphophoryn) have been shown to be encoded by a single gene, termed dentin sialophosphoprotein (DSPP), which has been mapped to human chromosome 4. The purpose of this study was to perform refined mapping of DSPP related to these disease loci by gene content mapping, as well as to place the DSPP gene oil the physical map of human chromosome 4 by sequence tagged site (STS) content mapping. Human genomic DSPP clones were isolated, and gene content mapping performed with specific primers for dentin matrix protein 1 (DMP1), bone sialoprotein (BSP) and osteopontin (secreted phosphoprotein 1, SPP1). STS content mapping was then performed with flanking STS markers to these dentin/bone gene loci. Our results demonstrate that the DSPP and DMP1 genes are within a maximum distance of 110 kb. Both DSPP and DMP-1 have been placed on the physical map of human chromosome 4 within the interval defined by markers D4S564 and D4S1291. DSPP is thereby strengthened as a candidate gene for both DGI-II and DD-II.