ORCID Profile
0000-0001-8348-0473
Current Organisation
Universidad Peruana Cayetano Heredia
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Publisher: eLife Sciences Publications, Ltd
Date: 26-11-2019
DOI: 10.7554/ELIFE.49898
Abstract: The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome-wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p 5 × 10−8), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7917 in iduals confirmed 10 loci including six unreported ones (padjusted 2.1 × 10−3). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis-regulatory activities at the face-associated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies.
Publisher: Springer Science and Business Media LLC
Date: 11-12-1994
DOI: 10.1038/NATURE15393
Publisher: Oxford University Press (OUP)
Date: 06-12-2017
DOI: 10.1093/HMG/DDX416
Publisher: Elsevier BV
Date: 07-2023
Publisher: Public Library of Science (PLoS)
Date: 25-09-2014
Publisher: Springer Science and Business Media LLC
Date: 21-09-2016
DOI: 10.1038/NATURE18964
Publisher: Springer Science and Business Media LLC
Date: 03-2016
DOI: 10.1038/NCOMMS10815
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.
Publisher: Springer Science and Business Media LLC
Date: 24-06-2015
DOI: 10.1038/NCOMMS8500
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 .
Publisher: Springer Science and Business Media LLC
Date: 19-05-2016
DOI: 10.1038/NCOMMS11616
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 × 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 subs le of ∼3,000 in iduals 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.
Publisher: Informa UK Limited
Date: 25-03-2019
Publisher: Informa UK Limited
Date: 27-10-2017
No related grants have been discovered for Carla Gallo.