Pcm1-KO Mouse

PCM1, also known as pericentriolar material-1, is a protein that serves as a molecular marker for centriolar satellites, membrane-less organelles involved in numerous cellular and organismal processes [8]. It has been implicated in regulating myonuclear and nuclear dynamics in skeletal muscle [3], and is involved in asymmetric cell division of vertebrate radial glia progenitors by regulating polarized endosome dynamics and cell fate [4].

PCM1 is frequently associated with gene fusions that lead to hematological neoplasms. For instance, the PCM1-JAK2 fusion tyrosine kinase gene is related to neoplasia, with patients initially diagnosed with myeloproliferative neoplasm (MPN), acute leukemia, or T-cell cutaneous lymphoma [1]. A case of an atypical form of mycosis fungoides was associated with the PCM1::JAK2 fusion [2]. Also, a myeloid neoplasm with a PCM1-PDGFRB transcript was reported, which responded to low-dose imatinib [5]. These fusions are recognized as important entities in eosinophilic disorders under the International Consensus Classification [6,7].

In summary, PCM1 is crucial for normal cellular processes such as myonuclear dynamics and cell fate determination in neural progenitors. Its gene fusions are strongly linked to hematologic malignancies like MPN, acute leukemia, and T-cell cutaneous lymphoma. Understanding PCM1's role through genetic models can potentially lead to better insights into these disease mechanisms and treatment strategies.

References:

1. Kaplan, Henry G, Jin, Ruyun, Bifulco, Carlo B, Scanlan, James M, Corwin, David R. . PCM1-JAK2 Fusion Tyrosine Kinase Gene-Related Neoplasia: A Systematic Review of the Clinical Literature. In The oncologist, 27, e661-e670. doi:10.1093/oncolo/oyac072. https://pubmed.ncbi.nlm.nih.gov/35472244/

2. Rodriguez-Sevilla, Juan Jose, Salido, Marta, Rodriguez-Rivera, Maria, Pujol, Ramon Maria, Colomo, Luis. 2022. PCM1::JAK2 fusion associates with an atypical form of mycosis fungoides. In Virchows Archiv : an international journal of pathology, 481, 967-973. doi:10.1007/s00428-022-03372-x. https://pubmed.ncbi.nlm.nih.gov/35786767/

3. Viggars, Mark R, Owens, Daniel J, Stewart, Claire, Mackey, Abigail L, Jarvis, Jonathan C. 2022. PCM1 labeling reveals myonuclear and nuclear dynamics in skeletal muscle across species. In American journal of physiology. Cell physiology, 324, C85-C97. doi:10.1152/ajpcell.00285.2022. https://pubmed.ncbi.nlm.nih.gov/36409178/

4. Zhao, Xiang, Wang, Yiqi, Mouilleau, Vincent, Dong, Zhiqiang, Guo, Su. 2024. PCM1 conveys centrosome asymmetry to polarized endosome dynamics in regulating daughter cell fate. In bioRxiv : the preprint server for biology, , . doi:10.1101/2024.06.17.599416. https://pubmed.ncbi.nlm.nih.gov/38948739/

5. Wang, Zhe, Wan, Li, Lin, Dong, Tian, Zheng, Mi, Ying-Chang. 2022. Myeloid Neoplasm with PCM1-PDGFRB Transcript Responded to Low-Dose Imatinib: One Case Report with Literature Review. In Acta haematologica, 145, 560-565. doi:10.1159/000524275. https://pubmed.ncbi.nlm.nih.gov/35340014/

6. Tzankov, Alexandar, Reichard, Kaaren K, Hasserjian, Robert P, Orazi, Attilio, Wang, Sa A. 2022. Updates on eosinophilic disorders. In Virchows Archiv : an international journal of pathology, 482, 85-97. doi:10.1007/s00428-022-03402-8. https://pubmed.ncbi.nlm.nih.gov/36068374/

7. Wang, Sa A, Orazi, Attilio, Gotlib, Jason, Arber, Daniel A, Tefferi, Ayalew. 2023. The international consensus classification of eosinophilic disorders and systemic mastocytosis. In American journal of hematology, 98, 1286-1306. doi:10.1002/ajh.26966. https://pubmed.ncbi.nlm.nih.gov/37283522/

8. Begar, Efe, Seyrek, Ece, Firat-Karalar, Elif Nur. 2024. Navigating centriolar satellites: the role of PCM1 in cellular and organismal processes. In The FEBS journal, 292, 688-708. doi:10.1111/febs.17194. https://pubmed.ncbi.nlm.nih.gov/38825736/