Transcriptional regulator PRDM12 is essential for human pain perception
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...
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2015
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ir-10336-226402022-05-02T12:37:20Z Transcriptional regulator PRDM12 is essential for human pain perception Chen, Ya-Chun Auer-Grumbach, Michaela Matsukawa, Shinya Zitzelsberger, Manuela Themistocleous, Andreas C Strom, Tim M Samara, Chrysanthi Moore, Adrian W Cho, Lily Ting-Yin Young, Gareth T Weiss, Caecilia Schabhüttl, 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 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, Ofélia 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 Restrepo, Carlos M. Isoprotein Prdm12 protein Unclassified drug Carrier protein Nerve protein Animal cell Article Autonomic innervation Basement membrane Cell nucleus Cellular distribution Chromosome 9 Chronic pain Codon Congenital analgesia Cornea reflex Cytoplasm Differentiation Embryo Embryo development Heterozygote Histone methylation Histone modification Human In situ hybridization Missense mutation Nervous system development Neural crest cell Nociception Nonhuman Pain receptor Phenotype Point mutation Priority journal Protein expression Protein function Protein interaction Sensory nerve cell Sodium current Sural nerve Tissue injury Xenopus Animal Chlorocebus aethiops Consanguinity Cos 1 cell line Female Genetic association Genetics Male Metabolism Mutation Neuropathy Pedigree Single nucleotide polymorphism Xenopus laevis Animals Carrier proteins Cercopithecus aethiops Consanguinity Cos cells Female Genetic association studies Hereditary sensory and autonomic neuropathies Humans Male Mutation Nerve tissue proteins Neurogenesis Nociceptors Pain perception Pedigree Xenopus laevis human congenital single nucleotide Prdm12 protein Pain insensitivity Polymorphism 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. © 2015 Nature America, Inc. All rights reserved. 2015 2020-05-25T23:57:17Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 10614036 https://repository.urosario.edu.co/handle/10336/22640 https://doi.org/10.1038/ng.3308 eng info:eu-repo/semantics/openAccess application/pdf Nature Publishing Group instname:Universidad del Rosario |
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EdocUR - Universidad del Rosario |
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DSpace |
language |
Inglés (English) |
topic |
Isoprotein Prdm12 protein Unclassified drug Carrier protein Nerve protein Animal cell Article Autonomic innervation Basement membrane Cell nucleus Cellular distribution Chromosome 9 Chronic pain Codon Congenital analgesia Cornea reflex Cytoplasm Differentiation Embryo Embryo development Heterozygote Histone methylation Histone modification Human In situ hybridization Missense mutation Nervous system development Neural crest cell Nociception Nonhuman Pain receptor Phenotype Point mutation Priority journal Protein expression Protein function Protein interaction Sensory nerve cell Sodium current Sural nerve Tissue injury Xenopus Animal Chlorocebus aethiops Consanguinity Cos 1 cell line Female Genetic association Genetics Male Metabolism Mutation Neuropathy Pedigree Single nucleotide polymorphism Xenopus laevis Animals Carrier proteins Cercopithecus aethiops Consanguinity Cos cells Female Genetic association studies Hereditary sensory and autonomic neuropathies Humans Male Mutation Nerve tissue proteins Neurogenesis Nociceptors Pain perception Pedigree Xenopus laevis human congenital single nucleotide Prdm12 protein Pain insensitivity Polymorphism |
spellingShingle |
Isoprotein Prdm12 protein Unclassified drug Carrier protein Nerve protein Animal cell Article Autonomic innervation Basement membrane Cell nucleus Cellular distribution Chromosome 9 Chronic pain Codon Congenital analgesia Cornea reflex Cytoplasm Differentiation Embryo Embryo development Heterozygote Histone methylation Histone modification Human In situ hybridization Missense mutation Nervous system development Neural crest cell Nociception Nonhuman Pain receptor Phenotype Point mutation Priority journal Protein expression Protein function Protein interaction Sensory nerve cell Sodium current Sural nerve Tissue injury Xenopus Animal Chlorocebus aethiops Consanguinity Cos 1 cell line Female Genetic association Genetics Male Metabolism Mutation Neuropathy Pedigree Single nucleotide polymorphism Xenopus laevis Animals Carrier proteins Cercopithecus aethiops Consanguinity Cos cells Female Genetic association studies Hereditary sensory and autonomic neuropathies Humans Male Mutation Nerve tissue proteins Neurogenesis Nociceptors Pain perception Pedigree Xenopus laevis human congenital single nucleotide Prdm12 protein Pain insensitivity Polymorphism Chen, Ya-Chun Auer-Grumbach, Michaela Matsukawa, Shinya Zitzelsberger, Manuela Themistocleous, Andreas C Strom, Tim M Samara, Chrysanthi Moore, Adrian W Cho, Lily Ting-Yin Young, Gareth T Weiss, Caecilia Schabhüttl, 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 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, Ofélia 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 Restrepo, Carlos M. Transcriptional regulator PRDM12 is essential for human pain perception |
description |
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. © 2015 Nature America, Inc. All rights reserved. |
format |
Artículo (Article) |
author |
Chen, Ya-Chun Auer-Grumbach, Michaela Matsukawa, Shinya Zitzelsberger, Manuela Themistocleous, Andreas C Strom, Tim M Samara, Chrysanthi Moore, Adrian W Cho, Lily Ting-Yin Young, Gareth T Weiss, Caecilia Schabhüttl, 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 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, Ofélia 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 Restrepo, Carlos M. |
author_facet |
Chen, Ya-Chun Auer-Grumbach, Michaela Matsukawa, Shinya Zitzelsberger, Manuela Themistocleous, Andreas C Strom, Tim M Samara, Chrysanthi Moore, Adrian W Cho, Lily Ting-Yin Young, Gareth T Weiss, Caecilia Schabhüttl, 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 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, Ofélia 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 Restrepo, Carlos M. |
author_sort |
Chen, Ya-Chun |
title |
Transcriptional regulator PRDM12 is essential for human pain perception |
title_short |
Transcriptional regulator PRDM12 is essential for human pain perception |
title_full |
Transcriptional regulator PRDM12 is essential for human pain perception |
title_fullStr |
Transcriptional regulator PRDM12 is essential for human pain perception |
title_full_unstemmed |
Transcriptional regulator PRDM12 is essential for human pain perception |
title_sort |
transcriptional regulator prdm12 is essential for human pain perception |
publisher |
Nature Publishing Group |
publishDate |
2015 |
url |
https://repository.urosario.edu.co/handle/10336/22640 https://doi.org/10.1038/ng.3308 |
_version_ |
1740173066927865856 |
score |
12,131701 |