Conserved Molecular Players Involved in Human Nose Morphogenesis Underlie Evolution of the Exaggerated Snout Phenotype in Cichlids.


Journal

Genome biology and evolution
ISSN: 1759-6653
Titre abrégé: Genome Biol Evol
Pays: England
ID NLM: 101509707

Informations de publication

Date de publication:
06 04 2023
Historique:
accepted: 04 03 2023
medline: 10 4 2023
pubmed: 18 3 2023
entrez: 17 3 2023
Statut: ppublish

Résumé

Instances of repeated evolution of novel phenotypes can shed light on the conserved molecular mechanisms underlying morphological diversity. A rare example of an exaggerated soft tissue phenotype is the formation of a snout flap in fishes. This tissue flap develops from the upper lip and has evolved in one cichlid genus from Lake Malawi and one genus from Lake Tanganyika. To investigate the molecular basis of snout flap convergence, we used mRNA sequencing to compare two species with snout flap to their close relatives without snout flaps from each lake. Our analysis identified 201 genes that were repeatedly differentially expressed between species with and without snout flap in both lakes, suggesting shared pathways, even though the flaps serve different functions. Shared expressed genes are involved in proline and hydroxyproline metabolism, which have been linked to human skin and facial deformities. Additionally, we found enrichment for transcription factor binding sites at upstream regulatory sequences of differentially expressed genes. Among the enriched transcription factors were members of the FOX transcription factor family, especially foxf1 and foxa2, which showed an increased expression in the flapped snout. Both of these factors are linked to nose morphogenesis in mammals. We also found ap4 (tfap4), a transcription factor showing reduced expression in the flapped snout with an unknown role in craniofacial soft tissue development. As genes involved in cichlid snout flap development are associated with human midline facial dysmorphologies, our findings hint at the conservation of genes involved in midline patterning across distant evolutionary lineages of vertebrates, although further functional studies are required to confirm this.

Identifiants

pubmed: 36930462
pii: 7079962
doi: 10.1093/gbe/evad045
pmc: PMC10078796
pii:
doi:

Substances chimiques

Transcription Factors 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© The Author(s) 2023. Published by Oxford University Press on behalf of Society for Molecular Biology and Evolution.

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Auteurs

Anna Duenser (A)

Institute of Biology, University of Graz, Graz, Austria.

Pooja Singh (P)

Institute of Biology, University of Graz, Graz, Austria.
Aquatic Ecology Division, Institute of Ecology and Evolution, University of Bern, Bern, Switzerland.
Swiss Federal Institute of Aquatic Science and Technology (EAWAG), Kastanienbaum, Switzerland.

Laurène Alicia Lecaudey (LA)

Institute of Biology, University of Graz, Graz, Austria.
Department of Natural History, NTNU University Museum, Norwegian University of Science and Technology, Trondheim, Norway.
SINTEF Ocean, Aquaculture Department, Trondheim, Trøndelag, Norway.

Christian Sturmbauer (C)

Institute of Biology, University of Graz, Graz, Austria.

R Craig Albertson (RC)

Department of Biology, University of Massachusetts, Amherst, Massachusetts, USA.

Wolfgang Gessl (W)

Institute of Biology, University of Graz, Graz, Austria.

Ehsan Pashay Ahi (EP)

Institute of Biology, University of Graz, Graz, Austria.
Organismal and Evolutionary Biology Research Programme, University of Helsinki, Helsinki, Finland.

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