Suppr超能文献

PKD1L1 建立左右不对称,并与 PKD2 进行物理相互作用。

Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2.

机构信息

Mammalian Genetics Unit, MRC Harwell, Harwell Science and Innovation Campus, Oxfordshire OX11 0RD, UK.

出版信息

Development. 2011 Mar;138(6):1131-42. doi: 10.1242/dev.058149. Epub 2011 Feb 9.

Abstract

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.

摘要

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。

相似文献

1
Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2.
Development. 2011 Mar;138(6):1131-42. doi: 10.1242/dev.058149. Epub 2011 Feb 9.
2
Pkd1l1 complexes with Pkd2 on motile cilia and functions to establish the left-right axis.
Development. 2011 Mar;138(6):1121-9. doi: 10.1242/dev.058271. Epub 2011 Feb 9.
4
Nodal flow transfers polycystin to determine mouse left-right asymmetry.
Dev Cell. 2023 Aug 21;58(16):1447-1461.e6. doi: 10.1016/j.devcel.2023.06.002. Epub 2023 Jul 5.
5
Cilia at the node of mouse embryos sense fluid flow for left-right determination via Pkd2.
Science. 2012 Oct 12;338(6104):226-31. doi: 10.1126/science.1222538. Epub 2012 Sep 13.
6
Situs inversus in Dpcd/Poll-/-, Nme7-/- , and Pkd1l1-/- mice.
Vet Pathol. 2010 Jan;47(1):120-31. doi: 10.1177/0300985809353553.
8
Mechanosensory Genes Pkd1 and Pkd2 Contribute to the Planar Polarization of Brain Ventricular Epithelium.
J Neurosci. 2015 Aug 5;35(31):11153-68. doi: 10.1523/JNEUROSCI.0686-15.2015.
9
Right, left and cilia: How asymmetry is established.
Semin Cell Dev Biol. 2021 Feb;110:11-18. doi: 10.1016/j.semcdb.2020.06.003. Epub 2020 Jun 20.

引用本文的文献

1
Syndromic variants of biliary atresia.
World J Pediatr Surg. 2025 Jun 8;8(3):e001040. doi: 10.1136/wjps-2025-001040. eCollection 2025.
3
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.
Am J Hum Genet. 2025 Feb 6;112(2):353-373. doi: 10.1016/j.ajhg.2024.12.006. Epub 2025 Jan 2.
4
Evolution of ion channels in cetaceans: a natural experiment in the tree of life.
Sci Rep. 2024 Jul 23;14(1):17024. doi: 10.1038/s41598-024-66082-1.
6
Molecular Pathways and Animal Models of Defects in Situs.
Adv Exp Med Biol. 2024;1441:719-738. doi: 10.1007/978-3-031-44087-8_43.
7
Establishment of Cardiac Laterality.
Adv Exp Med Biol. 2024;1441:167-183. doi: 10.1007/978-3-031-44087-8_9.
8
Is Involved in Congenital Chylothorax.
Cells. 2024 Jan 12;13(2):149. doi: 10.3390/cells13020149.
9
Functions of cilia in cardiac development and disease.
Ann Hum Genet. 2024 Jan;88(1):4-26. doi: 10.1111/ahg.12534. Epub 2023 Oct 23.

本文引用的文献

1
Pkd1l1 complexes with Pkd2 on motile cilia and functions to establish the left-right axis.
Development. 2011 Mar;138(6):1121-9. doi: 10.1242/dev.058271. Epub 2011 Feb 9.
3
Sensory reception is an attribute of both primary cilia and motile cilia.
J Cell Sci. 2010 Feb 15;123(Pt 4):505-9. doi: 10.1242/jcs.066308.
4
Situs inversus in Dpcd/Poll-/-, Nme7-/- , and Pkd1l1-/- mice.
Vet Pathol. 2010 Jan;47(1):120-31. doi: 10.1177/0300985809353553.
5
Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains.
J Biol Chem. 2009 Nov 20;284(47):32942-9. doi: 10.1074/jbc.M109.021832. Epub 2009 Sep 15.
7
ENU mutagenesis as a tool for understanding lung development and disease.
Biochem Soc Trans. 2009 Aug;37(Pt 4):838-42. doi: 10.1042/BST0370838.
8
Structural and molecular basis of the assembly of the TRPP2/PKD1 complex.
Proc Natl Acad Sci U S A. 2009 Jul 14;106(28):11558-63. doi: 10.1073/pnas.0903684106. Epub 2009 Jun 25.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验