Nakada Yuji, Martinez Madison J, Johnson Jane E
Department of Neuroscience, UT Southwestern Medical Center, Dallas, TX, 75390, USA.
Department of Neuroscience, UT Southwestern Medical Center, Dallas, TX, 75390, USA.
Dev Biol. 2025 Jul;523:32-42. doi: 10.1016/j.ydbio.2025.04.001. Epub 2025 Apr 3.
ASCL1 is a neural basic helix-loop-helix (bHLH) transcription factor that plays essential roles during neural development, including neural differentiation and neuronal subtype specification. bHLH factors are defined by their motifs, including a basic region interacting with DNA and an HLH domain involved in protein-protein interactions. We previously defined specific regions within the bHLH domain of ASCL1 as important for its specific functions directing neuronal differentiation in the chick neural tube. Here, we build upon these findings to show how specific mutations within the basic region block DNA binding but not heterodimer formation with E-protein partners TCF3 (E12/E47) and TCF12 (HEB) yet have differential abilities to show dominant negative phenotypes. Additionally, truncating domains outside the bHLH define a nuclear localization signal, a requirement for the C-terminal acidic residues, and the non-essentiality of the N-terminal glutamine/alanine repeats. This structure/function analysis identifies functional domains for ASCL1 activity.
ASCL1是一种神经碱性螺旋-环-螺旋(bHLH)转录因子,在神经发育过程中发挥着重要作用,包括神经分化和神经元亚型特化。bHLH因子由其基序定义,包括与DNA相互作用的碱性区域和参与蛋白质-蛋白质相互作用的HLH结构域。我们之前将ASCL1的bHLH结构域内的特定区域定义为对其在鸡神经管中指导神经元分化的特定功能很重要。在此,我们基于这些发现来展示碱性区域内的特定突变如何阻断DNA结合,但不影响与E蛋白伙伴TCF3(E12/E47)和TCF12(HEB)形成异二聚体,然而却具有不同的能力来表现出显性负性表型。此外,在bHLH之外截断结构域确定了一个核定位信号、对C末端酸性残基的需求以及N末端谷氨酰胺/丙氨酸重复序列的非必要性。这种结构/功能分析确定了ASCL1活性的功能结构域。