| First Author | Mincer ST | Year | 2022 |
| Journal | Dev Dyn | Volume | 251 |
| Issue | 7 | Pages | 1138-1155 |
| PubMed ID | 35025117 | Mgi Jnum | J:326738 |
| Mgi Id | MGI:7310502 | Doi | 10.1002/dvdy.454 |
| Citation | Mincer ST, et al. (2022) Investigating the effects of compound paralogous EPHB receptor mutations on mouse facial development. Dev Dyn 251(7):1138-1155 |
| abstractText | BACKGROUND: Variation in facial shape may arise from the combinatorial or overlapping actions of paralogous genes. Given its many members, and overlapping expression and functions, the EPH receptor family is a compelling candidate source of craniofacial morphological variation. We performed a detailed morphometric analysis of an allelic series of E14.5 Ephb1-3 receptor mutants to determine the effect of each paralogous receptor gene on craniofacial morphology. RESULTS: We found that Ephb1, Ephb2, and Ephb3 genotypes significantly influenced facial shape, but Ephb1 effects were weaker than Ephb2 and Ephb3 effects. Ephb2(-/-) and Ephb3(-/-) mutations affected similar aspects of facial morphology, but Ephb3(-/-) mutants had additional facial shape effects. Craniofacial differences across the allelic series were largely consistent with predicted additive genetic effects. However, we identified a potentially important nonadditive effect where Ephb1 mutants displayed different morphologies depending on the combination of other Ephb paralogs present, where Ephb1(+/-) , Ephb1(-/-) , and Ephb1(-/-) ; Ephb3(-/-) mutants exhibited a consistent deviation from their predicted facial shapes. CONCLUSIONS: This study provides a detailed assessment of the effects of Ephb receptor gene paralogs on E14.5 mouse facial morphology and demonstrates how the loss of specific receptors contributes to facial dysmorphology. |
