Sequence, structure and chromosomal localization of Crtm gene encoding mouse cartilage matrix protein and its exclusion as a candidate for murine achondroplasia.
Sequence, structure and chromosomal localization of Crtm gene encoding mouse cartilage matrix protein and its exclusion as a candidate for murine achondroplasia.
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编码小鼠软骨基质蛋白的 Crtm 基因的序列、结构和染色体定位及其作为小鼠软骨发育不全候选者的排除。
DOI：
10.1016/s0945-053x(98)90067-1
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发表时间：
1998
期刊：
影响因子：
--
通讯作者：
Fassler,R
中科院分区：
文献类型：
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作者：
Aszodi,A;Beier,DR;Hiripi,L;Bosze,Z;Fassler,R
以小鼠软骨基质蛋白（Crtm）cDNA片段为探针，从粘粒文库中克隆了Crtm基因。Crtm从翻译开始到多聚腺苷酸化信号序列跨越12.2kb，并且包含8个外显子。对该基因5′侧翼区1.9kb的序列分析表明，在起始密码子Met上游72 bp处有一个TATA样盒，以及几个已知的与真核转录因子结合的顺式作用基序。对外显子-内含子连接的分析表明，最后一个内含子不遵循gt/ag规则，而是属于小类前mRNA内含子，其5′和3′端分别含有“at”和“ac”。采用单链构象多态性分析将Crtm定位到4号染色体远端微卫星标记D4 Mit 16和D4 Mit 339之间。发育不全症（cn），一种小鼠隐性骨骼疾病，已经被定位在这个区域。免疫染色CMP和序列的Crtm在cn/cn小鼠未能揭示任何疾病特异性突变，这表明Crtm的突变不引起软骨发育不全。
The mouse cartilage matrix protein gene (Crtm) was isolated from a cosmid library using a mouse Crtm cDNA fragment as probe. Crtm spans 12.2 kb from the start of translation to the polyadenylation signal sequence and comprises eight exons. Sequencing of the 1.9 kb 5′ flanking region revealed a TATA-like box 72 bp upstream from the initiator Met codon as well as several cis-acting motifs known to bind eukaryotic transcription factors. Analysis of the exon-intron junctions demonstrated that the last intron does not follow the gt/ag rule but belongs to the minor class of pre-mRNA introns that contain “at” and “ac” at their 5′ and 3′ ends, respectively. Single-strand conformation polymorphism analysis was used to map Crtm to the distal part of chromosome 4 between the microsatellite markers D4Mit16 and D4Mit339. Achodroplasia (cn), a recessive skeletal disorder in mice, has already been mapped to this region. Immunostaining for CMP and sequence of Crtm in cn/cn mice failed to reveal any disease-specific mutations, suggesting that mutations in Crtm do not cause achondroplasia.