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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Autores Principales: 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.
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: Nature Publishing Group 2015
Materias:
Acceso en línea:https://repository.urosario.edu.co/handle/10336/22640
https://doi.org/10.1038/ng.3308
id ir-10336-22640
recordtype dspace
spelling 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
institution EdocUR - Universidad del Rosario
collection 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
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