Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog (Shh)
Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog (Shh)
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DOI：
10.1007/s00335-033-2317-5
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发表时间：
2004-01-01
期刊：
影响因子：
2.5
通讯作者：
Shiroishi, T
中科院分区：
文献类型：
--
作者：
Sagai, T;Masuya, H;Shiroishi, T
Sonic hedgehog（Shh）基因在后间充质中的极化表达对于高等脊椎动物从硬骨鱼鳍到四足动物肢芽的附属物的图案形成是必不可少的。我们报告的Lmbr 1基因，位于约1 Mb的Shh编码区在小鼠基因组中的内含子5中的序列，是高度保守的硬骨鱼和整个四足动物谱系。定位克隆显示，两个小鼠突变，Hx和M100081，其特征在于镜像数字重复和异位前Shh表达，在这个序列中有碱基取代。在无肢爬行动物和两栖动物和使用Hx和Shh KO等位基因的顺式-反式测试的保守序列的缺乏表明，该序列是控制Shh的极化表达的顺式作用调节器。
Polarized expression of the Sonic hedgehog (Shh) gene in the posterior mesenchyme is essential for pattern formation in the appendages of higher vertebrates, from teleost fins to tetrapod limb buds. We report on a sequence in intron 5 of the Lmbr1 gene, which resides approximately 1 Mb from the Shh coding region in the mouse genome and is highly conserved among teleost fishes and throughout the tetrapod lineage. Positional cloning revealed that two mouse mutations, Hx and M100081, characterized by mirror-image digit duplication and ectopic anterior Shh expression, have base substitutions in this sequence. Absence of the conserved sequence in limbless reptiles and amphibians and a cis-trans test using the Hx and Shh KO alleles suggest that the sequence, is a cis-acting regulator that controls the polarized expression of Shh.