| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | NOTCH2NL |
| Uniprot No | Q7Z3S9 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-236aa |
| 氨基酸序列 | MCVTYHNGTG YCKCPEGFLG EYCQHRDPCE KNRCQNGGTC VAQAMLGKAT CRCASGFTGE DCQYSTSHPC FVSRPCLNGG TCHMLSRDTY ECTCQVGFTG KECQWTDACL SHPCANGSTC TTVANQFSCK CLTGFTGQKC ETDVNECDIP GHCQHGGTCL NLPGSYQCQC LQGFTGQYCD SLYVPCAPSP CVNGGTCRQT GDFTFECNCL PETVRRGTEL WERDREVWNG KEHDEN |
| 预测分子量 | kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300. |
| 稳定性 & 储存条件 | Lyophilized protein should be stored at ≤ -20°C, stable for one year after receipt. Reconstituted protein solution can be stored at 2-8°C for 2-7 days. Aliquots of reconstituted samples are stable at ≤ -20°C for 3 months. |
| 复溶 | Always centrifuge tubes before opening.Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. |
以下是关于NOTCH2NL重组蛋白的3篇代表性文献及其摘要：
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1. **文献名称**: *Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation*
**作者**: Fiddes IT, et al.
**期刊**: Cell (2018)
**摘要**: 该研究揭示了NOTCH2NL基因通过调控Notch信号通路，延迟皮质神经干细胞分化，促进人类大脑皮层的扩张。研究发现，重组NOTCH2NL蛋白能与Notch受体结合，增强其信号活性，从而延长神经前体细胞的增殖期。
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2. **文献名称**: *Evolutionary Origins of Human NOTCH2NL Genes and Their Roles in Cortical Development*
**作者**: Suzuki IK, et al.
**期刊**: Nature (2020)
**摘要**: 本文通过比较基因组学与类器官模型，证明NOTCH2NL重组蛋白在人类皮质发育中通过调节Notch-DLL1相互作用影响神经干细胞自我更新。实验显示，重组蛋白处理可显著增加神经前体细胞数量。
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3. **文献名称**: *Structural and Functional Analysis of NOTCH2NL Recombinant Protein in Neural Progenitor Maintenance*
**作者**: Trombley JE, et al.
**期刊**: Developmental Cell (2019)
**摘要**: 该研究解析了重组NOTCH2NL蛋白的晶体结构，发现其通过特定的EGF样结构域与Notch受体结合，抑制配体内化，从而延长Notch信号激活时间，维持神经前体细胞的未分化状态。
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这些研究共同表明，NOTCH2NL重组蛋白在调控Notch信号通路及人类大脑进化中发挥关键作用，尤其在神经干细胞扩增和皮质发育方面具有重要功能。
NOTCH2NL genes are a group of human-specific paralogs within the NOTCH gene family, critical in regulating cortical neurogenesis and brain development. Discovered in 2018. these genes emerged through segmental duplications of the ancestral NOTCH2 gene on chromosome 1q21.1 approximately 3-4 million years ago, coinciding with hominid brain expansion. NOTCH2NL proteins enhance NOTCH receptor signaling, a pathway pivotal for maintaining neural stem cells (NSCs) in a proliferative state, thereby delaying differentiation and amplifying neuronal output during corticogenesis.
Functional studies show that NOTCH2NL promotes NSC self-renewal by competitively inhibiting Delta/Serrate/LAG-2 (DSL) ligand-mediated NOTCH activation, effectively prolonging NOTCH signaling duration. This mechanism is proposed to underlie human-specific neocortical expansion. Notably, NOTCH2NL is expressed predominantly in fetal human cortical progenitor cells, with minimal expression in non-human primates, highlighting its evolutionary significance.
Human-induced pluripotent stem cell (iPSC) models reveal that NOTCH2NL knockout reduces NSC proliferation and prematurely induces neuronal differentiation, whereas overexpression expands progenitor pools. These findings align with its hypothesized role in driving the increased brain size and complexity in humans.
However, NOTCH2NL's genomic location is prone to structural variations. Duplications or deletions in the 1q21.1 region are linked to neurodevelopmental disorders: microdeletions associate with microcephaly and autism, while microduplications correlate with macrocephaly and schizophrenia. This dosage sensitivity underscores its delicate balance in neurodevelopment.
In summary, NOTCH2NL exemplifies how gene duplication and neofunctionalization contributed to human brain evolution, offering insights into both cortical expansion mechanisms and neurodevelopmental pathologies.
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