Human-gained heart enhancers are associated with species-specific cardiac attributes.
Journal
Nature cardiovascular research
ISSN: 2731-0590
Titre abrégé: Nat Cardiovasc Res
Pays: England
ID NLM: 9918284280206676
Informations de publication
Date de publication:
Sep 2022
Sep 2022
Historique:
entrez:
23
2
2023
pubmed:
24
2
2023
medline:
24
2
2023
Statut:
ppublish
Résumé
The heart, a vital organ which is first to develop, has adapted its size, structure and function in order to accommodate the circulatory demands for a broad range of animals. Although heart development is controlled by a relatively conserved network of transcriptional/chromatin regulators, how the human heart has evolved species-specific features to maintain adequate cardiac output and function remains to be defined. Here, we show through comparative epigenomic analysis the identification of enhancers and promoters that have gained activity in humans during cardiogenesis. These cis-regulatory elements (CREs) are associated with genes involved in heart development and function, and may account for species-specific differences between human and mouse hearts. Supporting these findings, genetic variants that are associated with human cardiac phenotypic/disease traits, particularly those differing between human and mouse, are enriched in human-gained CREs. During early stages of human cardiogenesis, these CREs are also gained within genomic loci of transcriptional regulators, potentially expanding their role in human heart development. In particular, we discovered that gained enhancers in the locus of the early human developmental regulator
Identifiants
pubmed: 36817700
doi: 10.1038/s44161-022-00124-7
pmc: PMC9937543
mid: NIHMS1851695
doi:
Types de publication
Journal Article
Langues
eng
Pagination
830-843Subventions
Organisme : NIGMS NIH HHS
ID : R01 GM134366
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD103278
Pays : United States
Organisme : NHLBI NIH HHS
ID : UM1 HL128773
Pays : United States
Déclaration de conflit d'intérêts
Ethics declarations The authors declare no competing interests.
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