Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus.
Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus.
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小鼠OPA1的基因结构和染色体定位：其排除在BST基因座上。
DOI：
10.1186/1471-2156-4-8
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发表时间：
2003-05-07
期刊：
影响因子：
2.9
通讯作者：
Hamel, CP
中科院分区：
文献类型：
--
作者：
Delettre, C;Lenaers, G;Belenguer, P;Hamel, CP
常染色体显性1型视神经萎缩（DOA）是人类最常见的遗传性视神经萎缩。我们之前已经确定了OPA1基因，并表明它在DOA患者中发生突变。OPA1是动力蛋白GTPase家族的新成员，在线粒体网络的分布中发挥作用。Bst（腹部斑点和尾部）突变小鼠显示视神经萎缩，先前的作图数据提出了Bst和OPA1是同源物的可能性。因此，为了分析Bst小鼠作为DOA模型，我们对小鼠Opa1进行了表征，并将其作为Bst突变小鼠的候选物进行了评估。小鼠和人的OPA1序列在核苷酸和氨基酸水平上的同源性分别为88%和97%。在人类中观察到的选择性剪接mrna的存在在小鼠中是保守的。对整个mRNA编码序列和Opa1的31个外显子进行筛选，未发现Bst突变。利用辐射杂交面板（T31），我们将Opa1定位于16号染色体上，位于遗传标记D16Mit3和D16Mit124之间，与Bst位点相距10 cM。根据这些结果，我们得出结论，Opa1和Bst是不同的基因，Bst小鼠不是DOA的小鼠模型。
Autosomal dominant optic atrophy type 1 (DOA) is the most common form of hereditary optic atrophy in human. We have previously identified the OPA1 gene and shown that it was mutated in patients with DOA. OPA1 is a novel member of the dynamin GTPase family that play a role in the distribution of the mitochondrial network. The Bst (belly spot and tail) mutant mice show atrophy of the optic nerves and previous mapping data raise the possibility that Bst and OPA1 are orthologs. In order to analyse the Bst mouse as a model for DOA, we therefore characterized mouse Opa1 and evaluated it as a candidate for the Bst mutant mouse. Comparison of mouse and human OPA1 sequences revealed 88% and 97% identity at the nucleotide and amino acid levels, respectively. Presence of alternatively spliced mRNAs as seen in human was conserved in the mouse. Screening of the whole mRNA coding sequence and of the 31 exons of Opa1 did not reveal any mutation in Bst. Using a radiation hybrid panel (T31), we mapped Opa1 to chromosome 16 between genetic markers D16Mit3 and D16Mit124, which is 10 cM centromeric to the Bst locus. On the basis of these results we conclude that Opa1 and Bst are distinct genes and that the Bst mouse is not the mouse model for DOA.
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影响因子：
5.3
作者：
Delettre, C;Griffoin, JM;Hamel, CP
通讯作者：
Hamel, CP
影响因子：
10.5
作者：
Fleming, MD;Campagna, DR;Andrews, NC
通讯作者：
Andrews, NC
影响因子：
--
作者：
Johnston, RL;Burdon, MA;Seller, MJ
通讯作者：
Seller, MJ
影响因子：
3.5
作者：
Pesch, UEA;Leo-Kottler, B;Wissinger, B
通讯作者：
Wissinger, B
DOI：
10.1073/pnas.040531597
发表时间：
2000-02-29
影响因子：
11.1
作者：
Smith, RS;John, SWM;Chang, B
通讯作者：
Chang, B