Neanderthal introgression in SCN9A impacts mechanical pain sensitivity

Autor: 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

Publikováno v: Communications Biology, Vol 6, Iss 1, Pp 1-12 (2023)

Abstract 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

Externí odkaz: https://doaj.org/article/11ef99040cde41f1a3130cbb7c1a9396

Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance

Autor: Juan-Camilo Chacón-Duque, Kaustubh Adhikari, Macarena Fuentes-Guajardo, Javier Mendoza-Revilla, Victor Acuña-Alonzo, Rodrigo Barquera, Mirsha Quinto-Sánchez, Jorge Gómez-Valdés, Paola Everardo Martínez, Hugo Villamil-Ramírez, Tábita Hünemeier, Virginia Ramallo, Caio C. Silva de Cerqueira, Malena Hurtado, Valeria Villegas, Vanessa Granja, Mercedes Villena, René Vásquez, Elena Llop, José R. Sandoval, Alberto A. Salazar-Granara, Maria-Laura Parolin, Karla Sandoval, Rosenda I. Peñaloza-Espinosa, Hector Rangel-Villalobos, Cheryl A. Winkler, William Klitz, Claudio Bravi, Julio Molina, Daniel Corach, Ramiro Barrantes, Verónica Gomes, Carlos Resende, Leonor Gusmão, Antonio Amorim, Yali Xue, Jean-Michel Dugoujon, Pedro Moral, Rolando González-José, Lavinia Schuler-Faccini, Francisco M. Salzano, Maria-Cátira Bortolini, Samuel Canizales-Quinteros, Giovanni Poletti, Carla Gallo, Gabriel Bedoya, Francisco Rothhammer, David Balding, Garrett Hellenthal, Andrés Ruiz-Linares

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)

Latin Americans trace their ancestry to the admixture of Native Americans, Europeans and Sub-Saharan Africans. Here, the authors develop a novel haplotype-based approach and analyse over 6,500 Latin Americans to infer the geographically-detailed gene

Externí odkaz: https://doaj.org/article/1bf119c84db44cd5b09c50f6b00d3141

Fully automatic landmarking of 2D photographs identifies novel genetic loci influencing facial features

Autor: Qing Li, Jieyi Chen, Pierre Faux, Betty Bonfante, Macarena Fuentes-Guajardo, Javier Mendoza-Revilla, Juan Chacón-Duque, Malena Hurtado, Valeria Villegas, Vanessa Granja, Claudia Jaramillo, William Arias, Rodrigo Barquera, Paola Everardo-Martínez, Mirsha Sánchez-Quinto, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Caio C. Silva de Cerqueira, Tábita Hünemeier, Virginia Ramallo, Sijie Wu, Siyuan Du, Rolando Gonzalez-José, Lavinia Schüler-Faccini, Maria-Cátira Bortolini, Victor Acuña-Alonzo, Samuel Canizales-Quinteros, Carla Gallo, Giovanni Poletti, Winston Rojas, Francisco Rothhammer, Nicolas Navarro, Sijia Wang, Kaustubh Adhikari, Andrés Ruiz-Linares

We report a genome-wide association study for facial features in > 6,000 Latin Americans. We placed 106 landmarks on 2D frontal photographs using the cloud service platform Face++. After Procrustes superposition, genome-wide association testing was p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e546894bfe5a43319b490d92bb1ecac7
https://doi.org/10.21203/rs.3.rs-1479643/v1

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

Autor: Tábita Hünemeier, Andres Ruiz-Linares, Samuel Canizales-Quinteros, Christel Thauvin-Robinet, Betty Bonfante, Juan Camilo Chacón-Duque, Laurence Duplomb, Charlotte Montillot, Sagnik Palmal, Javier Mendoza-Revilla, Justin Cotney, Laurence Faivre, Seth M. Weinberg, Victor Acuña-Alonzo, Emma Wentworth, Philip H. Jones, Claudia Jaramillo, Caroline Costedoat, Morgane Dubied, David J. Balding, Manfred Kayser, Pierre Faux, Francisco Rothhammer, Mirsha Sánchez-Quinto, Carla Gallo, Paola Everardo-Martínez, Macarena Fuentes-Guajardo, Evie Stergiakouli, Pirro G. Hysi, Ziyi Xiong, Giovanni Poletti, Ceferino Varón-González, Rodrigo Barquera, Maria Cátira Bortolini, Laurence J. Howe, Lauriane Poloni, Rolando González-José, Valeria Villegas, Malena Hurtado, Kaustubh Adhikari, William Arias, Vanessa Granja, Lavinia Schuler-Faccini, Virginia Ramallo, John R. Shaffer, Timothy C. Cox, Tim D. Spector, Gabriel Bedoya, Hugo Villamil-Ramírez, Caio Cesar Silva de Cerqueira, Fan Liu, Binnaz Yalcin, Jorge Gómez-Valdés, Nicolas Navarro

Publikováno v: Science Advances
Science Advances, 2021, 7 (6), pp.eabc6160. ⟨10.1126/sciadv.abc6160⟩
Science Advances, American Association for the Advancement of Science (AAAS), 2021, 7 (6), pp.eabc6160. ⟨10.1126/sciadv.abc6160⟩
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Science advances, 7(6):eabc6160. American Association for the Advancement of Science

We carried out a genome-wide association study in Latin Americans and identified novel face morphology loci..
To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fc8d65df8ff04ffa45d88c71467bdc0
https://hal.science/hal-03268308

Genetic differentiation in a sample from northern Mexico City detected by HLA system analysis: Impact in the study of population immunogenetics

Autor: Agustín J. Arriaga Perea, Víctor Acuña Alonzo, Rodrigo Barquera, Anaí Balbuena Jaime, Julio Granados, Eva D. Juárez Cortés, Rosa M. Macías Medrano, Paola Everardo Martínez, Joaquín Zúñiga, Miguel A. Contreras Sieck

Publikováno v: Human Biology

The major histocompatibility complex is directly involved in the immune response, and thus the genes coding for its proteins are useful markers for the study of genetic diversity, susceptibility to disease (autoimmunity and infections), transplant me

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86f58ca051d974f97b5b90979bd3f12c
https://hdl.handle.net/21.11116/0000-0000-2451-C21.11116/0000-0000-2453-A