Prdm6, a member of the PRDF1 and RIZ1 homology domain-containing (PRDM) family of transcription factors, is involved in multiple biological processes. It has been shown to play a role in chromatin-related functions, such as chromatin accessibility regulation, and is associated with pathways related to neural crest cell (NCC) differentiation, heart development, and smooth muscle cell function [1,2,3]. Genetic models, especially knockout (KO) and conditional knockout (CKO) mouse models, have been crucial in understanding its functions.

In KO/CKO mouse models, disruption of Prdm6 led to various phenotypes. In neural crest cells, loss of Prdm6 impaired CNCC differentiation, delamination, and migration, resulting in patent ductus arteriosus (DA) and ventricular non-compaction [2]. Prdm6 depletion in Wnt1-expressing cells during development caused perinatal lethality and a patent DA phenotype, along with reduced DA tone and contractility [3]. In smooth muscle cell-specific Prdm6-deficient mice, it led to perinatal lethality due to lung hemorrhage [5]. In mouse models related to hypertension, heterozygous disruption of Prdm6 in smooth muscle cells led to an increased number of renin-producing cells and salt-induced systemic hypertension [4]. In human-related studies, PRDM6 expression in neuroepithelial stem cells promoted medulloblastoma, but the resulting tumors matched human Group 3, not Group 4 as initially expected [1].

In conclusion, Prdm6 is essential for cardiovascular development, neural crest cell differentiation, and migration. Its role in diseases such as congenital heart diseases, hypertension, and medulloblastoma has been revealed through model-based research, especially KO/CKO mouse models. These studies provide insights into the biological functions of Prdm6 and potential therapeutic targets for related diseases.