@article{Chen2015, abstract = {Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments. In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which available medical treatments are currently suboptimal. New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP). Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis. We determined that Prdm12 is expressed in nociceptors and their progenitors and participates in the development of sensory neurons in Xenopus embryos. Moreover, CIP-associated mutants abrogate the histone-modifying potential associated with wild-type Prdm12. Prdm12 emerges as a key factor in the orchestration of sensory neurogenesis and may hold promise as a target for new pain therapeutics.}, author = {Chen, Ya-Chun and Auer-Grumbach, Michaela and Matsukawa, Shinya and Zitzelsberger, Matsukawa and Themistocleous, Andreas C. and Strom, Tim M. and Samara, Chrysanthi and Moore, Adrian W. and Cho, Lily Ting-Yin and Young, Gareth T. and Weiss, Caecilia and Schabhuttl, Maria and Stucka, Rolf and Schmid, Annina B. and Parman, Yesim and Graul-Neumann, Luitgard and Heinritz, Wolfram and Passarge, Eberhard and Watson, Rosemarie M. and Hertz, Jens Michael and Moog, Ute and Baumgartner, Manuela and Valente, Enza Maria and Pereira, Diego and Restrepo, Carlos M. and Katona, Istvan and Dusl, Marina and Stendel, Claudia and Wieland, Thomas and Stafford, Fay and Reimann, Frank and von Au, Katja and Finke, Christian and Willems, Patrick J. and Nahorski, Michael S. and Shaikh, Samiha S. and Carvalho, Ofelia P. and Nicholas, Adeline K. and Karbani, Gulshan and McAleer, Maeve A. and Cilio, Maria Roberta and McHugh, John C. and Murphy, Sinead M. and Irvine, Alan D. and Jensen, Uffe Birk and Windhager, Reinhard and Weis, Joachim and Bergmann, Carsten and Rautenstrauss, Bernd and Baets, Jonathan and De Jonghe, Peter and Reilly, Mary M. and Kropatsch, Regina and Kurth, Ingo and Chrast, Roman and Michiue, Tatsuo and Bennett, David L. H. and Woods, C. Geoffrey and Senderek, Jan}, doi = {10.1038/ng.3308}, journal = {Nature Genetics}, month = {may}, pages = {803-808}, title = {Transcriptional regulator PRDM12 is essential for human pain perception}, url = {http://www.nature.com/articles/ng.3308.pdf}, volume = {47}, year = {2015} }