Mammalian Genetics Unit, MRC Harwell, Harwell Science and Innovation Campus, Oxfordshire OX11 0RD, UK.
Development. 2011 Mar;138(6):1131-42. doi: 10.1242/dev.058149. Epub 2011 Feb 9.
In mammals, left-right (L-R) asymmetry is established by posteriorly oriented cilia driving a leftwards laminar flow in the embryonic node, thereby activating asymmetric gene expression. The two-cilia hypothesis argues that immotile cilia detect and respond to this flow through a Pkd2-mediated mechanism; a putative sensory partner protein has, however, remained unidentified. We have identified the Pkd1-related locus Pkd1l1 as a crucial component of L-R patterning in mouse. Systematic comparison of Pkd1l1 and Pkd2 point mutants reveals strong phenocopying, evidenced by both morphological and molecular markers of sidedness; both mutants fail to activate asymmetric gene expression at the node or in the lateral plate and exhibit right isomerism of the lungs. Node and cilia morphology were normal in mutants and cilia demonstrated typical motility, consistent with Pkd1l1 and Pkd2 activity downstream of nodal flow. Cell biological analysis reveals that Pkd1l1 and Pkd2 localise to the cilium and biochemical experiments demonstrate that they can physically interact. Together with co-expression in the node, these data argue that Pkd1l1 is the elusive Pkd2 binding partner required for L-R patterning and support the two-cilia hypothesis.
在哺乳动物中,左右(L-R)不对称性是通过朝向后方的纤毛驱动胚胎节点中的向左层流来建立的,从而激活不对称基因表达。双纤毛假说认为,不动纤毛通过 Pkd2 介导的机制检测并响应这种流动;然而,一个假定的感觉伴侣蛋白仍然未被识别。我们已经确定 Pkd1 相关基因座 Pkd1l1 是小鼠 L-R 模式形成的关键组成部分。对 Pkd1l1 和 Pkd2 点突变体的系统比较揭示了强烈的表型模拟,这表现在侧面性的形态和分子标记上;这两种突变体都不能在节点或侧板上激活不对称基因表达,并且表现出肺的右侧同型性。节点和纤毛形态在突变体中正常,纤毛表现出典型的运动性,与节点流动下游的 Pkd1l1 和 Pkd2 活性一致。细胞生物学分析表明,Pkd1l1 和 Pkd2 定位于纤毛,生化实验表明它们可以物理相互作用。结合在节点中的共表达,这些数据表明 Pkd1l1 是用于 L-R 模式形成的难以捉摸的 Pkd2 结合伴侣,并支持双纤毛假说。