Disease relevance of SETDB2

• In a family-based association study across the SETDB2 and PHF11 genes, we have identified two single-nucleotide polymorphisms in the PHF11 gene significantly associated with childhood atopic dermatitis in an Australian cohort [1].
• Cloning and characterization of CLLD6, CLLD7, and CLLD8, novel candidate genes for leukemogenesis at chromosome 13q14, a region commonly deleted in B-cell chronic lymphocytic leukemia [2].

High impact information on SETDB2

• Three novel genes, CLLD6, CLLD7, and CLLD8, were isolated and characterized [2].
• A new locus at chromosome 13q14 centred on the genes SETDB2 and PHF11 and associated with increased total serum IgE has recently been identified [1].
• These genetic data support a central role of the SU(VAR)3-9 protein in heterochromatic gene silencing, one that is correlated with its activity as a histone H3-K9 methyltransferase (HMTase) [3].

Biological context of SETDB2

• The functional domains present within CLLD7 and CLLD8 suggest that the proteins may be involved in critical cellular processes such as cell cycle and transcriptional control and could therefore be directly or indirectly involved in leukemogenesis [2].

Anatomical context of SETDB2

• Although the precise functions of SETDB2 and PHF11 are not known, both proteins are expressed in cells of the immune system and include conserved domains that suggest a role in chromatin remodelling or transcriptional regulation, respectively [1].

References