12 results on '"Granja, Vanessa"'
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2. Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape
- Author
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Li, Qing, Chen, Jieyi, Faux, Pierre, Delgado, Miguel Eduardo, Bonfante, Betty, Fuentes-Guajardo, Macarena, Mendoza-Revilla, Javier, Chacón-Duque, J. Camilo, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Jaramillo, Claudia, Arias, William, Barquera, Rodrigo, Everardo-Martínez, Paola, Sánchez-Quinto, Mirsha, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Silva de Cerqueira, Caio C., Hünemeier, Tábita, Ramallo, Virginia, Wu, Sijie, Du, Siyuan, Giardina, Andrea, Paria, Soumya Subhra, Khokan, Mahfuzur Rahman, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Rojas, Winston, Rothhammer, Francisco, Navarro, Nicolas, Wang, Sijia, Adhikari, Kaustubh, and Ruiz-Linares, Andrés
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- 2023
- Full Text
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3. Prediction of eye, hair and skin colour in Latin Americans
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Palmal, Sagnik, Adhikari, Kaustubh, Mendoza-Revilla, Javier, Fuentes-Guajardo, Macarena, Silva de Cerqueira, Caio Cesar, Bonfante, Betty, Chacón-Duque, Juan Camilo, Sohail, Anood, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Everardo-Martínez, Paola, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hünemeier, Tábita, Ramallo, Virginia, Parolin, Maria-Laura, Gonzalez-José, Rolando, Schüler-Faccini, Lavinia, Bortolini, Maria-Cátira, Acuña-Alonzo, Victor, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Faux, Pierre, and Ruiz-Linares, Andrés
- Published
- 2021
- Full Text
- View/download PDF
4. A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia
- Author
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Adhikari, Kaustubh, Mendoza-Revilla, Javier, Sohail, Anood, Fuentes-Guajardo, Macarena, Lampert, Jodie, Chacón-Duque, Juan Camilo, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Everardo, Paola, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Silva de Cerqueira, Caio C., Hunemeier, Tábita, Ramallo, Virginia, Schuler-Faccini, Lavinia, Salzano, Francisco M., Gonzalez-José, Rolando, Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Gallo, Carla, Poletti, Giovanni, Bedoya, Gabriel, Rothhammer, Francisco, Tobin, Desmond J., Fumagalli, Matteo, Balding, David, and Ruiz-Linares, Andrés
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- 2019
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5. Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance
- Author
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Chacón-Duque, Juan-Camilo, Adhikari, Kaustubh, Fuentes-Guajardo, Macarena, Mendoza-Revilla, Javier, Acuña-Alonzo, Victor, Barquera, Rodrigo, Quinto-Sánchez, Mirsha, Gómez-Valdés, Jorge, Everardo Martínez, Paola, Villamil-Ramírez, Hugo, Hünemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Villena, Mercedes, Vásquez, René, Llop, Elena, Sandoval, José R., Salazar-Granara, Alberto A., Parolin, Maria-Laura, Sandoval, Karla, Peñaloza-Espinosa, Rosenda I., Rangel-Villalobos, Hector, Winkler, Cheryl A., Klitz, William, Bravi, Claudio, Molina, Julio, Corach, Daniel, Barrantes, Ramiro, Gomes, Verónica, Resende, Carlos, Gusmão, Leonor, Amorim, Antonio, Xue, Yali, Dugoujon, Jean-Michel, Moral, Pedro, González-José, Rolando, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Poletti, Giovanni, Gallo, Carla, Bedoya, Gabriel, Rothhammer, Francisco, Balding, David, Hellenthal, Garrett, and Ruiz-Linares, Andrés
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- 2018
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6. Disentangling Signatures of Selection Before and After European Colonization in Latin Americans.
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Mendoza-Revilla, Javier, Chacón-Duque, J. Camilo, Fuentes-Guajardo, Macarena, Ormond, Louise, Wang, Ke, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Barquera, Rodrigo, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Cerqueira, Caio C. Silva de, Rivera, Keyla M. Badillo, Nieves-Colón, Maria A., Gignoux, Christopher R., Wojcik, Genevieve L., and Moreno-Estrada, Andrés
- Subjects
LATIN Americans ,HLA histocompatibility antigens ,NATIVE Americans ,HISTORICAL fiction - Abstract
Throughout human evolutionary history, large-scale migrations have led to intermixing (i.e. admixture) between previously separated human groups. Although classical and recent work have shown that studying admixture can yield novel historical insights, the extent to which this process contributed to adaptation remains underexplored. Here, we introduce a novel statistical model, specific to admixed populations, that identifies loci under selection while determining whether the selection likely occurred post-admixture or prior to admixture in one of the ancestral source populations. Through extensive simulations, we show that this method is able to detect selection, even in recently formed admixed populations, and to accurately differentiate between selection occurring in the ancestral or admixed population. We apply this method to genome-wide SNP data of ∼4,000 individuals in five admixed Latin American cohorts from Brazil, Chile, Colombia, Mexico, and Peru. Our approach replicates previous reports of selection in the human leukocyte antigen region that are consistent with selection post-admixture. We also report novel signals of selection in genomic regions spanning 47 genes, reinforcing many of these signals with an alternative, commonly used local-ancestry-inference approach. These signals include several genes involved in immunity, which may reflect responses to endemic pathogens of the Americas and to the challenge of infectious disease brought by European contact. In addition, some of the strongest signals inferred to be under selection in the Native American ancestral groups of modern Latin Americans overlap with genes implicated in energy metabolism phenotypes, plausibly reflecting adaptations to novel dietary sources available in the Americas. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
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7. A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation
- Author
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Adhikari, Kaustubh, Fuentes-Guajardo, Macarena, Quinto-Sánchez, Mirsha, Mendoza-Revilla, Javier, Camilo Chacón-Duque, Juan, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Pérez, Gastón Macín, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Gallo, Carla, Poletti, Giovanni, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria- Cátira, Canizales-Quinteros, Samuel, Cheeseman, Michael, Rosique, Javier, Bedoya, Gabriel, Rothhammer, Francisco, Headon, Denis, González-José, Rolando, Balding, David, and Ruiz-Linares, Andrés
- Subjects
Adult ,Population genetics ,Science ,purl.org/pe-repo/ocde/ford#1.06.03 [https] ,Otras Ciencias Biológicas ,purl.org/pe-repo/ocde/ford#1.03.00 [https] ,Cadherin Related Proteins ,morphogenesis ,Core Binding Factor Alpha 1 Subunit ,Nerve Tissue Proteins ,Paired Box Transcription Factors/genetics ,Polymorphism, Single Nucleotide ,Article ,purl.org/becyt/ford/1 [https] ,Core Binding Factor Alpha 1 Subunit/genetics ,Ciencias Biológicas ,Mice ,Young Adult ,Zinc Finger Protein Gli3 ,Paired Box Transcription Factors ,Animals ,Humans ,Nerve Tissue Proteins/genetics ,purl.org/becyt/ford/1.6 [https] ,Maxillofacial Development ,Edar Receptor ,Maxillofacial Development/genetics ,Anatomic Variation ,Zinc Finger Protein Gli3/genetics ,Edar Receptor/genetics ,stomatognathic diseases ,Latin America ,Cadherin Related Proteins/genetics ,Face ,genome-wide association studies ,purl.org/pe-repo/ocde/ford#1.04.00 [https] ,Face/anatomy & histology ,CIENCIAS NATURALES Y EXACTAS ,Genome-Wide Association Study - Abstract
We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values, Humans show great diversity in facial appearance and this variation is highly heritable. Here, Andres Ruiz-Linares and colleagues examined facial features in admixed Latin Americans and identify genome-wide associations for 14 facial traits, including four gene loci (RUNX2, GLI3, DCHS2 and PAX1) influencing nose morphology.
- Published
- 2016
8. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
- Author
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Adhikari, Kaustubh, Fontanil, Tania, Cal, Santiago, Mendoza-Revilla, Javier, Fuentes-Guajardo, Macarena, Chacón-Duque, Juan-Camilo, Al-Saadi, Farah, Johansson, Jeanette A., Quinto-Sanchez, Mirsha, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Barquera Lozano, Rodrigo, Macín Pérez, Gastón, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Gallo, Carla, Poletti, Giovanni, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria-Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, Gonzalez-José, Rolando, Headon, Denis, López-Otín, Carlos, Tobin, Desmond J., Balding, David, and Ruiz-Linares, Andrés
- Subjects
Male ,Science ,Otras Ciencias Biológicas ,purl.org/pe-repo/ocde/ford#1.06.03 [https] ,purl.org/pe-repo/ocde/ford#1.03.00 [https] ,Article ,purl.org/becyt/ford/1 [https] ,Ciencias Biológicas ,Scalp/physiology ,Humans ,purl.org/becyt/ford/1.6 [https] ,Scalp ,integumentary system ,Continental Population Groups ,Gene Expression Regulation/physiology ,Racial Groups ,population genetics ,Genetic Variation ,Face/physiology ,Gene Expression Regulation ,Face ,genome-wide association studies ,purl.org/pe-repo/ocde/ford#1.04.00 [https] ,Female ,sense organs ,CIENCIAS NATURALES Y EXACTAS ,Hair ,Genome-Wide Association Study ,Hair/growth & development - Abstract
We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10−8 to 3 × 10−119), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair., By examining Latin American individuals of mixed European, Native American and African ancestry, Adhikari et al. identify novel loci influencing various features of facial and scalp hair. The study also provides experimental evidence that one of the implicated genes (PRSS53) is expressed in the hair follicle and that the top associated variant alters processing of this enzyme.
- Published
- 2016
9. A genome-wide association study identifies multiple loci for variation in human ear morphology
- Author
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Adhikari, Kaustubh, Reales, Guillermo, Smith, Andrew J. P., Konka, Esra, Palmen, Jutta, Quinto-Sanchez, Mirsha, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Fuentes, Macarena, Pizarro, María, Barquera Lozano, Rodrigo, Macín Pérez, Gastón, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Gallo, Carla, Poletti, Giovanni, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria- Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, Calderón, Rosario, Rosique, Javier, Cheeseman, Michael, Bhutta, Mahmood F., Humphries, Steve E., Gonzalez-José, Rolando, Headon, Denis, Balding, David, and Ruiz-Linares, Andrés
- Subjects
Adult ,Male ,Adolescent ,Genotype ,purl.org/pe-repo/ocde/ford#1.06.03 [https] ,purl.org/pe-repo/ocde/ford#1.03.00 [https] ,Polymorphism, Single Nucleotide ,Article ,White People ,Ciencias Biológicas ,purl.org/becyt/ford/1 [https] ,Genética y Herencia ,Mice ,Young Adult ,Cell Line, Tumor ,Morphogenesis ,Homeodomain Proteins/metabolism ,Animals ,Humans ,European Continental Ancestry Group/genetics ,purl.org/becyt/ford/1.6 [https] ,American Indian or Alaska Native ,T-Box Domain Proteins/genetics/metabolism ,pinna morphology ,Homeodomain Proteins ,American Native Continental Ancestry Group/genetics ,Edar Receptor ,Morphogenesis/genetics ,EDAR ,Edar Receptor/genetics ,Latin America ,Phenotype ,Ear Auricle/anatomy & histology/embryology ,purl.org/pe-repo/ocde/ford#1.04.00 [https] ,genome-wide association ,Female ,T-Box Domain Proteins ,CIENCIAS NATURALES Y EXACTAS ,Ear Auricle ,Genome-Wide Association Study - Abstract
Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion and antitragus size (linear regression P values 2 × 10−8 to 3 × 10−14). Four traits are associated with a functional variant in the Ectodysplasin A receptor (EDAR) gene, a key regulator of embryonic skin appendage development. We confirm expression of Edar in the developing mouse ear and that Edar-deficient mice have an abnormally shaped pinna. Two traits are associated with SNPs in a region overlapping the T-Box Protein 15 (TBX15) gene, a major determinant of mouse skeletal development. Strongest association in this region is observed for SNP rs17023457 located in an evolutionarily conserved binding site for the transcription factor Cartilage paired-class homeoprotein 1 (CART1), and we confirm that rs17023457 alters in vitro binding of CART1., The shape of the pinna varies widely in the general human population but the genetic basis of this variation is unknown. Here Adhikari et al. conduct a genome-wide association study in Latin Americans and discover seven gene regions influencing pinna morphology, including EDAR and TBX15.
- Published
- 2015
10. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.
- Author
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Bonfante, Betty, Faux, Pierre, Navarro, Nicolas, Mendoza-Revilla, Javier, Dubied, Morgane, Montillot, Charlotte, Wentworth, Emma, Poloni, Lauriane, Varón-González, Ceferino, Jones, Philip, Ziyi Xiong, Fuentes-Guajardo, Macarena, Palmal, Sagnik, Chacón-Duque, Juan Camilo, Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Jaramillo, Claudia, Arias, William, and Barquera, Rodrigo
- Subjects
- *
LATIN Americans , *INTROGRESSION (Genetics) , *FACE , *DEVELOPMENTAL biology , *GENETIC regulation - Abstract
The article discusses to characterize the genetic basis of facial features in Latin Americans, performed a genome-wide association study (GWAS) of 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs. Topics include GWAS hits have strongly enriched in regulatory sequences active specifically during craniofacial development; and the associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype.
- Published
- 2021
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11. A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation.
- Author
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Adhikari K, Fuentes-Guajardo M, Quinto-Sánchez M, Mendoza-Revilla J, Camilo Chacón-Duque J, Acuña-Alonzo V, Jaramillo C, Arias W, Lozano RB, Pérez GM, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Cheeseman M, Rosique J, Bedoya G, Rothhammer F, Headon D, González-José R, Balding D, and Ruiz-Linares A
- Subjects
- Adult, Anatomic Variation, Animals, Genome-Wide Association Study, Humans, Latin America, Maxillofacial Development genetics, Mice, Polymorphism, Single Nucleotide, Young Adult, Cadherin Related Proteins genetics, Core Binding Factor Alpha 1 Subunit genetics, Edar Receptor genetics, Face anatomy & histology, Nerve Tissue Proteins genetics, Paired Box Transcription Factors genetics, Zinc Finger Protein Gli3 genetics
- Abstract
We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10(-8)) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ∼3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion.
- Published
- 2016
- Full Text
- View/download PDF
12. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.
- Author
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Adhikari K, Fontanil T, Cal S, Mendoza-Revilla J, Fuentes-Guajardo M, Chacón-Duque JC, Al-Saadi F, Johansson JA, Quinto-Sanchez M, Acuña-Alonzo V, Jaramillo C, Arias W, Barquera Lozano R, Macín Pérez G, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, Gonzalez-José R, Headon D, López-Otín C, Tobin DJ, Balding D, and Ruiz-Linares A
- Subjects
- Female, Genetic Variation, Humans, Male, Face physiology, Gene Expression Regulation physiology, Genome-Wide Association Study, Hair growth & development, Racial Groups, Scalp physiology
- Abstract
We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10(-8) to 3 × 10(-119)), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair.
- Published
- 2016
- Full Text
- View/download PDF
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