Cebpe, also known as CCAAT enhancer-binding protein epsilon, is a crucial transcription factor involved in late myeloid lineage differentiation and cellular function [3]. It plays an essential role in granulocytic differentiation, regulating the controlled gene expression necessary for the maturation of granulocytes [4].

In functional studies, Cebpe-knockout mice exhibit defects in the terminal differentiation of granulocytes, similar to the phenotype of neutrophil-specific granule deficiency (SGD) in humans caused by Cebpe mutations [2,5]. In acute myeloid leukemia (AML), Cebpe expression is an independent prognostic factor for overall survival, event-free survival, and relapse. Low Cebpe expression is associated with a high relapse rate, and it can stratify wild-type patients of multiple genes into different outcome groups. Additionally, allogeneic transplantation has different effects on survival rates depending on Cebpe expression levels in AML patients [1].

In conclusion, Cebpe is vital for granulocytic differentiation. Studies using gene knockout mouse models have revealed its significance in normal hematopoietic cell development and in disease conditions such as SGD and AML. Understanding Cebpe's function provides insights into the mechanisms of myeloid cell differentiation and offers potential prognostic and therapeutic implications for related diseases.

References:

1. Li, Kening, Du, Yuxin, Wei, Dong-Qing, Zhang, Fang. 2019. CEBPE expression is an independent prognostic factor for acute myeloid leukemia. In Journal of translational medicine, 17, 188. doi:10.1186/s12967-019-1944-x. https://pubmed.ncbi.nlm.nih.gov/31164135/

2. Banday, Aaqib Zaffar, Kaur, Anit, Akagi, Tadayuki, Rawat, Amit, Singh, Surjit. 2022. A Novel CEBPE Variant Causes Severe Infections and Profound Neutropenia. In Journal of clinical immunology, 42, 1434-1450. doi:10.1007/s10875-022-01304-7. https://pubmed.ncbi.nlm.nih.gov/35726044/

3. Göös, Helka, Fogarty, Christopher L, Sahu, Biswajyoti, Taipale, Jussi, Seppänen, Mikko R J. 2019. Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy. In The Journal of allergy and clinical immunology, 144, 1364-1376. doi:10.1016/j.jaci.2019.06.003. https://pubmed.ncbi.nlm.nih.gov/31201888/

4. Shyamsunder, Pavithra, Sankar, Haresh, Mayakonda, Anand, Madan, Vikas, Koeffler, H Phillip. 2018. CARD10, a CEBPE target involved in granulocytic differentiation. In Haematologica, 103, 1269-1277. doi:10.3324/haematol.2018.190280. https://pubmed.ncbi.nlm.nih.gov/29773596/

5. Shyamsunder, Pavithra, Shanmugasundaram, Mahalakshmi, Mayakonda, Anand, Madan, Vikas, Koeffler, H Phillip. 2019. Identification of a novel enhancer of CEBPE essential for granulocytic differentiation. In Blood, 133, 2507-2517. doi:10.1182/blood.2018886077. https://pubmed.ncbi.nlm.nih.gov/30952671/