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Neanderthal introgression in SCN9A impacts mechanical pain sensitivity.
Faux, Pierre; Ding, Li; Ramirez-Aristeguieta, Luis Miguel; Chacón-Duque, J Camilo; Comini, Maddalena; Mendoza-Revilla, Javier; Fuentes-Guajardo, Macarena; Jaramillo, Claudia; Arias, William; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Barquera, Rodrigo; Everardo-Martínez, Paola; Quinto-Sánchez, Mirsha; Gómez-Valdés, Jorge; Villamil-Ramírez, Hugo; Silva de Cerqueira, Caio C; Hünemeier, Tábita; Ramallo, Virginia; Gonzalez-José, Rolando; Schüler-Faccini, Lavinia; Bortolini, Maria-Cátira; Acuña-Alonzo, Victor; Canizales-Quinteros, Samuel; Poletti, Giovanni; Gallo, Carla; Rothhammer, Francisco; Rojas, Winston; Schmid, Annina B; Adhikari, Kaustubh; Bennett, David L; Ruiz-Linares, Andrés.
Afiliación
  • Faux P; Ministry of Education Key Laboratory of Contemporary Anthropology and Collaborative Innovation Center of Genetics and Development, School of Life Sciences and Human Phenome Institute, Fudan University, Yangpu District, 200438, Shanghai, China.
  • Ding L; UMR ADES, Aix-Marseille Université, CNRS, EFS, 13005, Marseille, France.
  • Ramirez-Aristeguieta LM; UMR GenPhySE, INRAE, INP, ENVT, Université de Toulouse, 31326, Castanet-Tolosan, France.
  • Chacón-Duque JC; Ministry of Education Key Laboratory of Contemporary Anthropology and Collaborative Innovation Center of Genetics and Development, School of Life Sciences and Human Phenome Institute, Fudan University, Yangpu District, 200438, Shanghai, China.
  • Comini M; QST Lab, Faculty of Odontology, Universidad de Antioquia, 050010, Medellin, Colombia.
  • Mendoza-Revilla J; Centre for Palaeogenetics, Svante Arrhenius väg 20C, SE-10691, Stockholm, Sweden.
  • Fuentes-Guajardo M; Department of Archaeology and Classical Studies, Stockholm University, SE-1069, Stockholm, Sweden.
  • Jaramillo C; Department of Genetics, Evolution and Environment, University College London, London, WC1E 6BT, UK.
  • Arias W; Nuffield Department of Clinical Neurosciences, Oxford University, Oxford, OX3 9DU, UK.
  • Hurtado M; Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, 31, Lima, Perú.
  • Villegas V; Unit of Human Evolutionary Genetics, Institut Pasteur, 75015, Paris, France.
  • Granja V; Departamento de Tecnología Médica, Facultad de Ciencias de la Salud, Universidad de Tarapacá, 1000000, Arica, Chile.
  • Barquera R; GENMOL (Genética Molecular), Universidad de Antioquia, 5001000, Medellín, Colombia.
  • Everardo-Martínez P; GENMOL (Genética Molecular), Universidad de Antioquia, 5001000, Medellín, Colombia.
  • Quinto-Sánchez M; Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, 31, Lima, Perú.
  • Gómez-Valdés J; Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, 31, Lima, Perú.
  • Villamil-Ramírez H; Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, 31, Lima, Perú.
  • Silva de Cerqueira CC; Molecular Genetics Laboratory, National School of Anthropology and History, Mexico City, 14050, 6600, Mexico, Mexico.
  • Hünemeier T; Department of Archaeogenetics, Max Planck Institute for the Science of Human History (MPI-SHH), 07745, Jena, Germany.
  • Ramallo V; Molecular Genetics Laboratory, National School of Anthropology and History, Mexico City, 14050, 6600, Mexico, Mexico.
  • Gonzalez-José R; Forensic Science, Faculty of Medicine, UNAM (Universidad Nacional Autónoma de México), 06320, Mexico City, Mexico.
  • Schüler-Faccini L; Molecular Genetics Laboratory, National School of Anthropology and History, Mexico City, 14050, 6600, Mexico, Mexico.
  • Bortolini MC; Unidad de Genomica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, 4510, Mexico City, Mexico.
  • Acuña-Alonzo V; Scientific Police of São Paulo State, 19900-109, Ourinhos-SP, Brazil.
  • Canizales-Quinteros S; Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, 05508-090, São Paulo, SP, Brazil.
  • Poletti G; Departamento de Genética, Universidade Federal do Rio Grande do Sul, 90040-060, Porto Alegre, Brasil.
  • Gallo C; Instituto Patagónico de Ciencias Sociales y Humanas, Centro Nacional Patagónico, CONICET, U9129ACD, Puerto Madryn, Argentina.
  • Rothhammer F; Instituto Patagónico de Ciencias Sociales y Humanas, Centro Nacional Patagónico, CONICET, U9129ACD, Puerto Madryn, Argentina.
  • Rojas W; Departamento de Genética, Universidade Federal do Rio Grande do Sul, 90040-060, Porto Alegre, Brasil.
  • Schmid AB; Departamento de Genética, Universidade Federal do Rio Grande do Sul, 90040-060, Porto Alegre, Brasil.
  • Adhikari K; Molecular Genetics Laboratory, National School of Anthropology and History, Mexico City, 14050, 6600, Mexico, Mexico.
  • Bennett DL; Unidad de Genomica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, 4510, Mexico City, Mexico.
  • Ruiz-Linares A; Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, 31, Lima, Perú.
Commun Biol ; 6(1): 958, 2023 10 10.
Article en En | MEDLINE | ID: mdl-37816865
The Nav1.7 voltage-gated sodium channel plays a key role in nociception. Three functional variants in the SCN9A gene (encoding M932L, V991L, and D1908G in Nav1.7), have recently been identified as stemming from Neanderthal introgression and to associate with pain symptomatology in UK BioBank data. In 1000 genomes data, these variants are absent in Europeans but common in Latin Americans. Analysing high-density genotype data from 7594 Latin Americans, we characterized Neanderthal introgression in SCN9A. We find that tracts of introgression occur on a Native American genomic background, have an average length of ~123 kb and overlap the M932L, V991L, and D1908G coding positions. Furthermore, we measured experimentally six pain thresholds in 1623 healthy Colombians. We found that Neanderthal ancestry in SCN9A is significantly associated with a lower mechanical pain threshold after sensitization with mustard oil and evidence of additivity of effects across Nav1.7 variants. Our findings support the reported association of Neanderthal Nav1.7 variants with clinical pain, define a specific sensory modality affected by archaic introgression in SCN9A and are consistent with independent effects of the Neanderthal variants on Nav1.7 function.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Umbral del Dolor / Hombre de Neandertal Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Commun Biol Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Umbral del Dolor / Hombre de Neandertal Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Commun Biol Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido