Pierre Faux, Li Ding, Luis Miguel Ramirez-Aristeguieta, J Camilo Chacón-Duque, Maddalena Comini, Javier Mendoza-Revilla, Macarena Fuentes-Guajardo, Claudia Jaramillo, William Arias, Malena Hurtado, Valeria Villegas, Vanessa Granja, Rodrigo Barquera, Paola Everardo-Martínez, Mirsha Quinto-Sánchez, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Caio C Silva de Cerqueira, Tábita Hünemeier, Virginia Ramallo, Rolando Gonzalez-José, Lavinia Schüler-Faccini, Maria-Cátira Bortolini, Victor Acuña-Alonzo, Samuel Canizales-Quinteros, Giovanni Poletti, Carla Gallo, Francisco Rothhammer, Winston Rojas, Annina B Schmid, Kaustubh Adhikari, David L Bennett, Andrés Ruiz-Linares
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...
October 10, 2023: Communications Biology