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Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.
Three novel loci were identified in East Asians with cardiac arrhythmias: rs2483280 (PRDM16 (show PRDM16 Proteins) locus) and rs335206 (PRDM6 locus) were associated with QRS (show QARS Proteins) duration; and rs17026156 (SLC8A1 (show SLC8A1 Proteins) locus) correlated with PR interval.
identified Prdm6 as a factor that is essential for the physiological control of cardiovascular development
PRISM acts as a novel epigenetic regulator of Smooth Muscle Cells (SMC (show DYM Proteins)) phenotypic plasticity by suppressing differentiation and maintaining the proliferative potential of vascular SMCs.
These data indicate that PRDM6 is expressed by vascular precursors, has differential effects in endothelial cells and smooth muscle cells, and may play a role in vascular precursor differentiation and survival.
Putative histone methyltransferase that acts as a transcriptional repressor of smooth muscle gene expression. Promotes the transition from differentiated to proliferative smooth muscle by suppressing differentiation and maintaining the proliferative potential of vascular smooth muscle cells. Also plays a role in endothelial cells by inhibiting endothelial cell proliferation, survival and differentiation. It is unclear whether it has histone methyltransferase activity in vivo. According to some authors, it does not act as a histone methyltransferase by itself and represses transcription by recruiting EHMT2/G9a. According to others, it possesses histone methyltransferase activity when associated with other proteins and specifically methylates 'Lys-20' of histone H4 in vitro. 'Lys-20' methylation represents a specific tag for epigenetic transcriptional repression (By similarity).
PR domain containing 6
, PR domain zinc finger protein 6
, PR domain-containing protein 6
, PR-domain zinc finger protein 6
, putative histone-lysine N-methyltransferase PRDM6
, PR domain-containing protein in smooth muscle