Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape.
Qing Li
(1)
,
Jieyi Chen
(1, 2)
,
Pierre Faux
(3)
,
Miguel Eduardo Delgado
(1, 4, 5)
,
Betty Bonfante
(3)
,
Macarena Fuentes-Guajardo
(6)
,
Javier Mendoza-Revilla
(7, 8)
,
J. Camilo Chacón-Duque
(9)
,
Malena Hurtado
(7)
,
Valeria Villegas
(7)
,
Vanessa Granja
(7)
,
Claudia Jaramillo
(10)
,
William Arias
(10)
,
Rodrigo Barquera
(11, 12)
,
Paola Everardo-Martínez
(11)
,
Mirsha Sánchez-Quinto
(13)
,
Jorge Gómez-Valdés
(11)
,
Hugo Villamil-Ramírez
(14)
,
Caio C. Silva de Cerqueira
(15)
,
Tábita Hünemeier
(16)
,
Virginia Ramallo
(17, 18)
,
Sijie Wu
(1, 2)
,
Siyuan Du
(2)
,
Andrea Giardina
(19)
,
Soumya Subhra Paria
(19)
,
Mahfuzur Rahman Khokan
(19)
,
Rolando Gonzalez-José
(18)
,
Lavinia Schüler-Faccini
(17)
,
Maria-Cátira Bortolini
(17)
,
Victor Acuña-Alonzo
(11)
,
Samuel Canizales-Quinteros
(14)
,
Carla Gallo
(7)
,
Giovanni Poletti
(7)
,
Winston Rojas
(10)
,
Francisco Rothhammer
(20)
,
Nicolas Navarro
(21, 22)
,
Sijia Wang
(1, 2)
,
Kaustubh Adhikari
(19, 23)
,
Andrés Ruiz-Linares
(1, 3, 23)
1
Ministry of Education Key Laboratory of Contemporary Anthropology
2 CAS Key Laboratory of Computational Biology
3 ADES - Anthropologie bio-culturelle, Droit, Ethique et Santé
4 DA - División Antropología [La Plata]
5 CONICET - Consejo Nacional de Investigaciones Científicas y Técnicas [Buenos Aires]
6 Departamento de Tecnología Médica
7 LID - Laboratorios de Investigación y Desarrollo
8 Génétique Evolutive Humaine - Human Evolutionary Genetics
9 Division of Vertebrates and Anthropology
10 Laboratorio de Genética Molecular
11 Molecular Genetics Laboratory
12 DAG - Department of Archaeogenetics [Jena]
13 Forensic Science
14 Unidad de Genomica de Poblaciones Aplicada a la Salud
15 Scientific Police of São Paulo State [Ourinhos, Brazil]
16 Departamento de Genética e Biologia Evolutiva
17 Departamento de Genética
18 Instituto Patagónico de Ciencias Sociales y Humanas
19 School of Mathematics and Statistics [Milton Keynes]
20 Facultad de Medicina & Instituto de Alta Investigacion
21 BGS - Biogéosciences [UMR 6282]
22 EPHE - École Pratique des Hautes Études
23 Centre for Biodiversity and Environment Research, Department of Genetics, Evolution and Environment
2 CAS Key Laboratory of Computational Biology
3 ADES - Anthropologie bio-culturelle, Droit, Ethique et Santé
4 DA - División Antropología [La Plata]
5 CONICET - Consejo Nacional de Investigaciones Científicas y Técnicas [Buenos Aires]
6 Departamento de Tecnología Médica
7 LID - Laboratorios de Investigación y Desarrollo
8 Génétique Evolutive Humaine - Human Evolutionary Genetics
9 Division of Vertebrates and Anthropology
10 Laboratorio de Genética Molecular
11 Molecular Genetics Laboratory
12 DAG - Department of Archaeogenetics [Jena]
13 Forensic Science
14 Unidad de Genomica de Poblaciones Aplicada a la Salud
15 Scientific Police of São Paulo State [Ourinhos, Brazil]
16 Departamento de Genética e Biologia Evolutiva
17 Departamento de Genética
18 Instituto Patagónico de Ciencias Sociales y Humanas
19 School of Mathematics and Statistics [Milton Keynes]
20 Facultad de Medicina & Instituto de Alta Investigacion
21 BGS - Biogéosciences [UMR 6282]
22 EPHE - École Pratique des Hautes Études
23 Centre for Biodiversity and Environment Research, Department of Genetics, Evolution and Environment
Qing Li
- Function : Author
- PersonId : 1258911
- ORCID : 0009-0000-5172-5755
Pierre Faux
- Function : Author
- PersonId : 1273551
- IdHAL : pierre-faux
- ORCID : 0000-0003-4486-6327
J. Camilo Chacón-Duque
- Function : Author
- PersonId : 1258912
- ORCID : 0000-0003-0715-1947
William Arias
- Function : Author
- PersonId : 1258913
- ORCID : 0000-0002-2543-4855
Rodrigo Barquera
- Function : Author
- PersonId : 1176052
- ORCID : 0000-0003-0518-4518
Jorge Gómez-Valdés
- Function : Author
- PersonId : 1258914
- ORCID : 0000-0001-6996-2732
Siyuan Du
- Function : Author
- PersonId : 825241
- ORCID : 0000-0003-1602-1669
Andrea Giardina
- Function : Author
- PersonId : 1258915
- ORCID : 0000-0003-3409-8053
Nicolas Navarro
- Function : Author
- PersonId : 759148
- IdHAL : nco-navarro
- ORCID : 0000-0001-5694-4201
- IdRef : 080279155
Sijia Wang
- Function : Author
- PersonId : 1258916
- ORCID : 0000-0001-6961-7867
Kaustubh Adhikari
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- Function : Correspondent author
- PersonId : 1258917
- ORCID : 0000-0001-5825-4191
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Andrés Ruiz-Linares
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- Function : Correspondent author
- PersonId : 763821
- ORCID : 0000-0001-8372-1011
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Abstract
We report a genome-wide association study of facial features in >6000 Latin Americans based on automatic landmarking of 2D portraits and testing for association with inter-landmark distances. We detected significant associations (P-value <5 × 10 −8 ) at 42 genome regions, nine of which have been previously reported. In follow-up analyses, 26 of the 33 novel regions replicate in East Asians, Europeans, or Africans, and one mouse homologous region influences craniofacial morphology in mice. The novel region in 1q32.3 shows introgression from Neanderthals and we find that the introgressed tract increases nasal height (consistent with the differentiation between Neanderthals and modern humans). Novel regions include candidate genes and genome regulatory elements previously implicated in craniofacial development, and show preferential transcription in cranial neural crest cells. The automated approach used here should simplify the collection of large study samples from across the world, facilitating a cosmopolitan characterization of the genetics of facial features.
Origin : Publication funded by an institution
Licence : CC BY - Attribution
Licence : CC BY - Attribution