Sökning: WFRF:(Ruiz Martínez Javier) > Neanderthal introgr...
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000 | 04122naa a2200673 4500 | |
001 | oai:DiVA.org:su-225829 | |
003 | SwePub | |
008 | 240123s2023 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-2258292 URI |
024 | 7 | a https://doi.org/10.1038/s42003-023-05286-z2 DOI |
040 | a (SwePub)su | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Faux, Pierre4 aut |
245 | 1 0 | a Neanderthal introgression in SCN9A impacts mechanical pain sensitivity |
264 | 1 | c 2023 |
338 | a print2 rdacarrier | |
520 | a 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 similar to 123kb 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. Neanderthal-derived variants in the SCN9A gene (encoding the voltage gated sodium channel, Nav1.7) are associated with enhanced experimental mechanical pain sensitivity in modern humans. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng |
700 | 1 | a Ding, Li4 aut |
700 | 1 | a Miguel Ramirez-Aristeguieta, Luis4 aut |
700 | 1 | a Chacón-Duque, J. Camilo,d 1988-u Stockholms universitet,Institutionen för arkeologi och antikens kultur,University College London, UK4 aut0 (Swepub:su)cach0137 |
700 | 1 | a Comini, Maddalena4 aut |
700 | 1 | a Mendoza-Revilla, Javier4 aut |
700 | 1 | a Fuentes-Guajardo, Macarena4 aut |
700 | 1 | a Jaramillo, Claudia4 aut |
700 | 1 | a Arias, William4 aut |
700 | 1 | a Hurtado, Malena4 aut |
700 | 1 | a Villegas, Valeria4 aut |
700 | 1 | a Granja, Vanessa4 aut |
700 | 1 | a Barquera, Rodrigo4 aut |
700 | 1 | a Everardo-Martinez, Paola4 aut |
700 | 1 | a Quinto-Sanchez, Mirsha4 aut |
700 | 1 | a Gomez-Valdes, Jorge4 aut |
700 | 1 | a Villamil-Ramirez, Hugo4 aut |
700 | 1 | a Silva de Cerqueira, Caio C.4 aut |
700 | 1 | a Hunemeier, Tabita4 aut |
700 | 1 | a Ramallo, Virginia4 aut |
700 | 1 | a Gonzalez-Jose, Rolando4 aut |
700 | 1 | a Schuler-Faccini, Lavinia4 aut |
700 | 1 | a Bortolini, Maria-Catira4 aut |
700 | 1 | a Acuna-Alonzo, Victor4 aut |
700 | 1 | a Canizales-Quinteros, Samuel4 aut |
700 | 1 | a Poletti, Giovanni4 aut |
700 | 1 | a Gallo, Carla4 aut |
700 | 1 | a Rothhammer, Francisco4 aut |
700 | 1 | a Rojas, Winston4 aut |
700 | 1 | a Schmid, Annina B.4 aut |
700 | 1 | a Adhikari, Kaustubh4 aut |
700 | 1 | a Bennett, David L.4 aut |
700 | 1 | a Ruiz-Linares, Andres4 aut |
710 | 2 | a Stockholms universitetb Institutionen för arkeologi och antikens kultur4 org |
773 | 0 | t Communications Biologyg 6:1q 6:1x 2399-3642 |
856 | 4 | u https://doi.org/10.1038/s42003-023-05286-zy Fulltext |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-225829 |
856 | 4 8 | u https://doi.org/10.1038/s42003-023-05286-z |
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