Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape. - Aix-Marseille Université Accéder directement au contenu
Article Dans Une Revue Communications Biology Année : 2023

Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape.

William Arias
Jorge Gómez-Valdés
Siyuan Du

Résumé

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.
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Origine : Publication financée par une institution
Licence : CC BY - Paternité

Dates et versions

hal-04115851 , version 1 (02-06-2023)

Licence

Paternité

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Qing Li, Jieyi Chen, Pierre Faux, Miguel Eduardo Delgado, Betty Bonfante, et al.. Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape.. Communications Biology, 2023, 6 (1), pp.481. ⟨10.1038/s42003-023-04838-7⟩. ⟨hal-04115851⟩
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