Notch signaling in human development and disease.
Notch signaling in human development and disease.
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DOI：
10.1016/j.semcdb.2012.01.010
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发表时间：
2012-06
影响因子：
7.3
通讯作者：
Spinner, Nancy B.
中科院分区：
文献类型：
--
作者：
Penton, Andrea L.;Leonard, Laura D.;Spinner, Nancy B.
Notch信号通路成员的突变会导致影响肝脏、骨骼、心脏、眼睛、面部、肾脏和脉管系统的发育表型。与Notch相关的疾病包括由配体（Jagged1（JAG1））和受体（NOTCH2）突变引起的常染色体显性、多系统的阿拉杰尔综合征，以及由配体（Delta - like - 3（DLL3））突变引起的常染色体隐性脊柱肋骨发育不良，还有Notch信号通路的其他几个成员相关的疾病。NOTCH2的突变最近还与哈伊杜 - 切尼综合征有关，这是一种导致局灶性骨破坏、骨质疏松、颅面形态异常和肾囊肿的显性疾病。NOTCH1受体的突变与几种类型的心脏疾病有关，NOTCH3的突变导致显性的成人发病疾病CADASIL（伴有皮质下梗死和脑白质病的常染色体显性遗传性脑动脉病），这是一种在四五十岁发病的血管疾病。对这些人类疾病及其遗传模式和突变类型的研究揭示了对Notch信号传导机制的深入了解。
Mutations in Notch signaling pathway members cause developmental phenotypes that affect the liver, skeleton, heart, eye, face, kidney, and vasculature. Notch associated disorders include the autosomal dominant, multi-system, Alagille syndrome caused by mutations in both a ligand (Jagged1 (JAG1)) and receptor (NOTCH2) and autosomal recessive spondylocostal dysostosis, caused by mutations in a ligand (Delta-like-3 (DLL3)), as well as several other members of the Notch signaling pathway. Mutations in NOTCH2 have also recently been connected to Hajdu-Cheney syndrome, a dominant disorder causing focal bone destruction, osteoporosis, craniofacial morphology and renal cysts. Mutations in the NOTCH1 receptor are associated with several types of cardiac disease and mutations in NOTCH3 cause the dominant adult onset disorder CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), a vascular disorder with onset in the 4th or 5th decades. Studies of these human disorders and their inheritance patterns and types of mutations reveal insights into the mechanisms of Notch signaling.
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