Disease relevance of Tcfap2b

• Terminal renal failure in mice lacking transcription factor AP-2 beta [1].
• Serum analysis of AP-2 beta mutant animals revealed defective tubular secretory function and ion homeostasis including severe hypocalcemia, hyperphosphatemia, and hyperuremia [1].

High impact information on Tcfap2b

• Studies of AP2a (Tfap2a) function in mice and zebrafish have demonstrated a role in patterning mesenchymal cells of neural crest origin that form the craniofacial skeleton, while the mammalian Tfap2b is required in both the facial skeleton and kidney [2].
• Recently, we observed that the phenotype is modulated by genetic background because AP-2 beta mutant mice, backcrossed onto 129P2 background, survive approximately 2 weeks after birth, allowing for a detailed analysis of kidney function [1].
• Inactivation of the transcription factor AP-2 beta in a genetically mixed C57BL/6/129S1 mouse strain resulted in perinatal lethality as a consequence of massively enhanced apoptotic death of renal epithelial cells (Genes Dev 1997;11:1938-1948) [1].
• Specific AP-2 beta signals were detected in the midbrain, sympathetic ganglia, adrenal medulla, and cornea [3].
• Comparative analysis of AP-2 alpha and AP-2 beta gene expression during murine embryogenesis [3].

Analytical, diagnostic and therapeutic context of Tcfap2b

• In the current study, we used specific cRNA probes to study comparatively AP-2 alpha and AP-2 beta expression by in situ hybridization of murine embryonic tissue sections [3].

References