Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology.
GWAS
craniofacial
development
gene regulation
genome-wide association study
phenotyping
syndromes
Journal
Annual review of genomics and human genetics
ISSN: 1545-293X
Titre abrégé: Annu Rev Genomics Hum Genet
Pays: United States
ID NLM: 100911346
Informations de publication
Date de publication:
31 08 2022
31 08 2022
Historique:
pubmed:
29
4
2022
medline:
9
9
2022
entrez:
28
4
2022
Statut:
ppublish
Résumé
Variations in the form of the human face, which plays a role in our individual identities and societal interactions, have fascinated scientists and artists alike. Here, we review our current understanding of the genetics underlying variation in craniofacial morphology and disease-associated dysmorphology, synthesizing decades of progress on Mendelian syndromes in addition to more recent results from genome-wide association studies of human facial shape and disease risk. We also discuss the various approaches used to phenotype and quantify facial shape, which are of particular importance due to the complex, multipartite nature of the craniofacial form. We close by discussing how experimental studies have contributed and will further contribute to our understanding of human genetic variation and then proposing future directions and applications for the field.
Identifiants
pubmed: 35483406
doi: 10.1146/annurev-genom-120121-102607
pmc: PMC9482780
mid: NIHMS1833977
doi:
Types de publication
Journal Article
Review
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
383-412Subventions
Organisme : NIDCR NIH HHS
ID : R01 DE016148
Pays : United States
Organisme : NIDCR NIH HHS
ID : R01 DE027023
Pays : United States
Organisme : NIDCR NIH HHS
ID : U01 DE020078
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
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