Transcriptional regulator PRDM12 is essential for human pain perception

Chen, Ya-Chun, Auer-Grumbach, Michaela, Matsukawa, Shinya, Zitzelsberger, Matsukawa, Themistocleous, Andreas C., Strom, Tim M., Samara, Chrysanthi, Moore, Adrian W., Cho, Lily Ting-Yin, Young, Gareth T., Weiss, Caecilia, Schabhuttl, Maria, Stucka, Rolf, Schmid, Annina B., Parman, Yesim, Graul-Neumann, Luitgard, Heinritz, Wolfram, Passarge, Eberhard, Watson, Rosemarie M., Hertz, Jens Michael, Moog, Ute, Baumgartner, Manuela, Valente, Enza Maria, Pereira, Diego, Restrepo, Carlos M., Katona, Istvan, Dusl, Marina, Stendel, Claudia, Wieland, Thomas, Stafford, Fay, Reimann, Frank, von Au, Katja, Finke, Christian, Willems, Patrick J., Nahorski, Michael S., Shaikh, Samiha S., Carvalho, Ofelia P., Nicholas, Adeline K., Karbani, Gulshan, McAleer, Maeve A., Cilio, Maria Roberta, McHugh, John C., Murphy, Sinead M., Irvine, Alan D., Jensen, Uffe Birk, Windhager, Reinhard, Weis, Joachim, Bergmann, Carsten, Rautenstrauss, Bernd, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M., Kropatsch, Regina, Kurth, Ingo, Chrast, Roman, Michiue, Tatsuo, Bennett, David L. H., Woods, C. Geoffrey and Senderek, Jan (2015) Transcriptional regulator PRDM12 is essential for human pain perception. Nature Genetics, 47 7: 803-808. doi:10.1038/ng.3308

Author Chen, Ya-Chun
Auer-Grumbach, Michaela
Matsukawa, Shinya
Zitzelsberger, Matsukawa
Themistocleous, Andreas C.
Strom, Tim M.
Samara, Chrysanthi
Moore, Adrian W.
Cho, Lily Ting-Yin
Young, Gareth T.
Weiss, Caecilia
Schabhuttl, Maria
Stucka, Rolf
Schmid, Annina B.
Parman, Yesim
Graul-Neumann, Luitgard
Heinritz, Wolfram
Passarge, Eberhard
Watson, Rosemarie M.
Hertz, Jens Michael
Moog, Ute
Baumgartner, Manuela
Valente, Enza Maria
Pereira, Diego
Restrepo, Carlos M.
Katona, Istvan
Dusl, Marina
Stendel, Claudia
Wieland, Thomas
Stafford, Fay
Reimann, Frank
von Au, Katja
Finke, Christian
Willems, Patrick J.
Nahorski, Michael S.
Shaikh, Samiha S.
Carvalho, Ofelia P.
Nicholas, Adeline K.
Karbani, Gulshan
McAleer, Maeve A.
Cilio, Maria Roberta
McHugh, John C.
Murphy, Sinead M.
Irvine, Alan D.
Jensen, Uffe Birk
Windhager, Reinhard
Weis, Joachim
Bergmann, Carsten
Rautenstrauss, Bernd
Baets, Jonathan
De Jonghe, Peter
Reilly, Mary M.
Kropatsch, Regina
Kurth, Ingo
Chrast, Roman
Michiue, Tatsuo
Bennett, David L. H.
Woods, C. Geoffrey
Senderek, Jan
Title Transcriptional regulator PRDM12 is essential for human pain perception
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1546-1718
Publication date 2015-07
Sub-type Article (original research)
DOI 10.1038/ng.3308
Volume 47
Issue 7
Start page 803
End page 808
Total pages 6
Place of publication New York, United States
Publisher Nature Publishing Group
Collection year 2016
Language eng
Formatted 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.
Keyword PRDM12
Pain perception
Chronic pain
Congenital insensitivity to pain
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2016 Collection
School of Health and Rehabilitation Sciences Publications
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Citation counts: TR Web of Science Citation Count  Cited 13 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 13 times in Scopus Article | Citations
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