Mutation of a ubiquitously expressed mouse transmembrane Protein (Tapt1) causes specific skeletal homeotic transformations
Mutation of a ubiquitously expressed mouse transmembrane Protein (Tapt1) causes specific skeletal homeotic transformations
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DOI：
10.1534/genetics.106.065177
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发表时间：
2007-02-01
期刊：
影响因子：
3.3
通讯作者：
Schimenti, John C.
中科院分区：
文献类型：
--
作者：
Howell, Gareth R.;Shindo, Mami;Schimenti, John C.
L5Jcs1 是在小鼠 5 号染色体上 ENU 诱导突变筛查中发现的一种围产期致死突变。L5Jcs1 纯合子表现出脊柱中段从后到前的转变，类似于 Hoxc8 和 Hoxc9 缺陷的小鼠。位置克隆工作在一本小说中发现了一个突变。进化上保守且普遍表达的基因，称为 Tapt1（Transmonbrane 前后变换 1）。预计 TAPT1 包含多个跨膜结构域，并且该基因的一部分与编码巨细胞病毒 gH 受体的不寻常的选择性剪接的人类转录本是直系同源的。我们推测 TAPT1 是 HOXC8 的下游效应器，可能通过转导或传输发育过程中轴向骨骼模式所需的细胞外信息来发挥作用。
L5Jcs1 is a perinatal lethal mutation uncovered in a screen for ENU-induced mutations on mouse chromosome 5. L5Jcs1 homozygotes exhibit posterior to-anterior transformations of the vertebral column midsection, similar to mice deficient for Hoxc8 and Hoxc9. Positional cloning efforts identified a mutation in a novel. evolutionarily conserved, and ubiquitously expressed gene dubbed Tapt1 (Transmonbrane anterior posterior transformation 1). TAPT1 is predicted to contain several transmembrane domains, and part of the gene is orthologous to an unusual alternatively spliced human transcript encoding the cytomegalovirus gH receptor. We speculate that TAPT1 is a downstream effector of HOXC8 that may act by transducing or transmitting extracellular information required for axial skeletal patterning during development.