A ROR2 coding variant is associated with craniofacial variation in domestic pigeons

Boer, Elena F.; Hollebeke, Hannah F. Van; Maclary, Emily; Holt, Carson; Yandell, Mark; Shapiro, Michael D.

doi:10.1016/j.cub.2021.08.068

Cited by 14 publications

(21 citation statements)

References 66 publications

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“…Both of these disorders are characterized by defects in elongation of endochondral bones, consistent with defects in cartilage morphogenesis during embryogenesis and later in developing growth zones. Mutations in Ror2 have also recently been linked to diversity in craniofacial morphologies in domesticated pigeons ( Boer et al, 2021 ), including beak length, which also depends on maxillary/mandibular skeletal elongation.…”

Section: Discussionmentioning

confidence: 99%

The non-canonical Wnt receptor Ror2 is required for cartilage cell polarity and morphogenesis of the craniofacial skeleton in zebrafish

2023

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Non-canonical / β-catenin-independent Wnt signaling plays critical roles in tissue / cell polarity in epithelia, but its functions have been less well studied in mesenchymal tissues, such as the skeleton. Mutations in non-canonical Wnt signaling pathway genes cause human skeletal diseases such as Robinow syndrome and Brachydactyly Type B1, which disrupt bone growth throughout the endochondral skeleton. Ror2 is one of several non-canonical Wnt receptor/co-receptors. Here we show that ror2−/- mutant zebrafish have craniofacial skeletal defects, including disruptions of chondrocyte polarity. ror1−/- mutants appear phenotypically wild type, but loss of both ror1 and ror2 leads to more severe cartilage defects, indicating partial redundancy. Skeletal defects in ror1/2 double mutants resemble those of wnt5b−/- mutants, suggesting that Wnt5b is the primary Ror ligand in zebrafish. Surprisingly, the proline-rich domain of Ror2, but not its kinase domain, is required to rescue its function in mosaic transgenic experiments in ror2−/- mutants. These results suggest that endochondral bone defects in ROR-related human syndromes reflect defects in cartilage polarity and morphogenesis.

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Section: Discussionmentioning

confidence: 99%

The non-canonical Wnt receptor Ror2 is required for cartilage cell polarity and morphogenesis of the craniofacial skeleton in zebrafish

2023

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“…Recently, micro‐CT scanning were widely used as it generated three‐dimensional (3D) with higher resolution then traditional skeletal staining methods such as alizarin red/alcian blue (Boer, Maclary, et al, 2021; Boer, Van Hollebeke, et al, 2021; Navalón et al, 2021; Unger et al, 2021). As demonstrated in our micro‐CT scan data, the frontal and parietal regions of the skull were not fully fused.…”

Section: Discussionmentioning

confidence: 99%

Chicken HOXC8 and HOXC10 genes may play a role in the altered skull morphology associated with the Crest phenotype

Tsai

Chen

et al. 2023

J Exp Zool Pt B

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One of the most intriguing traits found in domestic chickens is the Crest phenotype. This trait, characterized by a tuft of elongated feathers sprouted from the head, is found in breeds such as Polish chickens and Silkie chickens. Moreover, some crested chicken breeds also exhibit a protuberance in their anterodorsal skull region. Previous studies have strived to identify the causative factors of this trait. This study aimed to elucidate the role of chicken HOXC8 and HOXC10 in the formation of the Crest phenotype. We explored the effect of ectopic expression of HOXC8 or HOXC10 on the chicken craniofacial morphology using the RCAS retrovirus transformation system. Microcomputed tomography scanning was conducted to measure the 3D structure of the cranial bone of transgenic embryos for geometric morphometric analysis. We found that the ectopic expression of HOXC8 or HOXC10 in chicken heads caused mild morphological changes in the skull compared with the GFP‐transgenic control group. Geometric morphometric analysis showed that HOXC8 and HOXC10 transgenic groups expressed a mild upward shape change in the frontal region of the skull compared with the control group, which is similar to what is seen in the crested chicken breeds. In conclusion, this study supports findings in previous studies in which HOX genes play a role in the formation of the altered skull morphology related to the Crest phenotype. It also supports that mutations in HOX genes may contribute to intra‐ and inter‐specific variation in morphological traits in vertebrates.

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“…The pigeon craniofacial skeleton offers a unique opportunity to compare trait exaggeration and reduction: in addition to the exaggerated beak morphology of the Scandaroon breed, many breeds have dramatically reduced beaks (e.g., breeds from the Owl and Tumbler families). In our recent investigation of the genetic basis of the short beak phenotype in pigeons, we found that a single major-effect locus explains the majority of variation in beak reduction (Boer et al, 2021).…”

Section: Complex Genetic Architecture Of An Exaggerated Craniofacial Traitmentioning

confidence: 97%

“…However, armed with decades or centuries of hobbyist knowledge, it is sometimes possible to parse seemingly complex phenotypes into a series of simpler ones, facilitating mapping of genes that contribute to traits like pigment variation (Domyan et al, 2014). In the case of craniofacial variation in birds, major phenotypic shifts can result from changes to a single gene and appear to be relatively simple (e.g., Boer et al, 2021;vonHoldt et al, 2018)) or they can be complex with detectable effects throughout the genome (e.g., Lamichhaney et al, 2015, and this study) in both domesticated and wild populations. The number of studies that identify either the general genetic architecture or specific genes controlling a wide variety of morphological, behavioral, and physiological traits is rapidly increasing.…”

Section: Complex Genetic Architecture Of An Exaggerated Craniofacial Traitmentioning

confidence: 99%

Complex genetic architecture of three‐dimensional craniofacial shape variation in domestic pigeons

Boer

Maclary

Shapiro

2021

Evolution and Development

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Deciphering the genetic basis of vertebrate craniofacial variation is a longstanding biological problem with broad implications in evolution, development, and human pathology. One of the most stunning examples of craniofacial diversification is the adaptive radiation of birds, in which the beak serves essential roles in virtually every aspect of their life histories. The domestic pigeon (Columba livia) provides an exceptional opportunity to study the genetic underpinnings of craniofacial variation because of its unique balance of experimental accessibility and extraordinary phenotypic diversity within a single species. We used traditional and geometric morphometrics to quantify craniofacial variation in an F2 laboratory cross derived from the straight‐beaked Pomeranian Pouter and curved‐beak Scandaroon pigeon breeds. Using a combination of genome‐wide quantitative trait locus scans and multi‐locus modeling, we identified a set of genetic loci associated with complex shape variation in the craniofacial skeleton, including beak shape, braincase shape, and mandible shape. Some of these loci control coordinated changes between different structures, while others explain variation in the size and shape of specific skull and jaw regions. We find that in domestic pigeons, a complex blend of both independent and coupled genetic effects underlie three‐dimensional craniofacial morphology.

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A ROR2 coding variant is associated with craniofacial variation in domestic pigeons

Cited by 14 publications

References 66 publications

The non-canonical Wnt receptor Ror2 is required for cartilage cell polarity and morphogenesis of the craniofacial skeleton in zebrafish

The non-canonical Wnt receptor Ror2 is required for cartilage cell polarity and morphogenesis of the craniofacial skeleton in zebrafish

Chicken HOXC8 and HOXC10 genes may play a role in the altered skull morphology associated with the Crest phenotype

Complex genetic architecture of three‐dimensional craniofacial shape variation in domestic pigeons

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