253
Craniofacial Development and Disorders
with emphasis on Xenopus as a model system. Formation
of craniofacial structures is a complex process that includes
neural crest cells that give rise to the cartilages or bones
of the face and skull, while the extreme anterior domain
forms the mouth. Gene regulatory networks drive craniofacial development, while the EAD is a major early facial
signaling center or organizer. Analyses in Xenopus have
been pivotal in uncovering processes directing craniofacial development and in defning the EAD as an organizer.
Craniofacial anomalies are frequent and associated with
genetic, environmental, and nutritional factors. Def ning
genes and processes underlying human disorders is critical
for proper diagnosis and new treatments. This is being facilitated using the Xenopus system—either through knowledge
from fundamental research or by direct assay of gene variants or environmental perturbations. Xenopus remains one
of the most accessible systems for uncovering connections to
human craniofacial disorders.
REFERENCES
Abu-Daya, A., M. K. Khokha, and L. B. Zimmerman. 2012. “The
hitchhiker’s guide to Xenopus genetics.” Genesis 50 (3):164–
75. doi: 10.1002/dvg.22007.
Adams, A. E. 1931. “Some effects of removal of endoderm from the
mouth region of early Amblystoma punctatum embryos.” The
Journal of Experimental Zoology 58. doi: doi.org/10.1002/
jez.1400580108.
Adams, D. S., S. G. Uzel, J. Akagi, et al. 2016. “Bioelectric signalling via potassium channels: A mechanism for craniofacial
dysmorphogenesis in KCNJ2-associated Andersen-Tawil
Syndrome.” J Physiol 594 (12):3245–3270. doi: 10.1113/
JP271930.
Alappat, S., Z. Y. Zhang, and Y. P. Chen. 2003. “Msx homeobox
gene family and craniofacial development.” Cell Res 13
(6):429–42. doi: doi.org/10.1038/sj.cr.7290185.
Aybar, M. J., and R. Mayor. 2002. “Early induction of neural crest
cells: lessons learned from frog, fsh and chick.” Current
Opinion in Genetics & Development 12 (4):452–8.
Bajpai, R., D. A. Chen, A. Rada-Iglesias, et al. 2010. “CHD7
cooperates with PBAF to control multipotent neural crest
formation.” Nature 463 (7283):958–962. doi: 10.1038/
nature08733.
Barriga, E. H., P. A. Trainor, M. Bronner, et al. 2015. “Animal
models for studying neural crest development: Is the mouse
different?” Development 142 (9):1555–60. doi: 10.1242/
dev.121590.
Bartzela, T. N., C. Carels, and J. C. Maltha. 2017. “Update on
13 syndromes affecting craniofacial and dental structures.”
Front Physiol 8:1038. doi: 10.3389/fphys.2017.01038.
Bast, T. H., B. J. Anson, and S. F. Richany. 1955. “The development
of the second branchial arch (Reichert’s cartilage), facial
canal and associated structures in man.” Annals of Otology,
Rhinology and Laryngology 64 (3):802–24.
Bauermeister, A. J., A. Zuriarrain, and M. I. Newman. 2016.
“Three-dimensional printing in plastic and reconstructive
surgery: A systematic review.” Ann Plast Surg 77 (5):569–76.
doi: 10.1097/SAP.0000000000000671.
Betancur, P., M. Bronner-Fraser, and T. Sauka-Spengler. 2010.
“Assembling neural crest regulatory circuits into a gene regulatory network.” Annu Rev Cell Dev Biol 26:581–603. doi:
10.1146/annurev.cellbio.042308.113245.
Birgfeld, C. B., and C. Heike. 2012. “Craniofacial microsomia.” Semin
Plast Surg 26 (2):91–104. doi: 10.1055/s-0032–1320067.
Blum, M., K. Feistel, T. Thumberger, et al. 2014. “The evolution and conservation of left-right patterning mechanisms.”
Development 141 (8):1603–13. doi: 10.1242/dev.100560.
Blum, M., A. Schweickert, P. Vick, et al. 2014. “Symmetry breakage in the vertebrate embryo: When does it happen and how
does it work?” Dev Biol 393 (1):109–23. doi: 10.1016/j.
ydbio.2014.06.014.
Bogusiak, K., A. Puch, and P. Arkuszewski. 2017. “Goldenhar syndrome: current perspectives.” World J Pediatr 13 (5):405–15.
doi: 10.1007/s12519–017–0048-z.
Borrelli, M. R., M. S. Hu, M. T. Longaker, et al. 2020. “Tissue engineering and regenerative medicine in craniofacial reconstruction and facial aesthetics.” J Craniofac Surg 31 (1):15–27.
doi: 10.1097/SCS.0000000000005840.
Brandstetter, K. A., and K. G. Patel. 2016. “Craniofacial microsomia.” Facial Plast Surg Clin North Am 24 (4):495–515. doi:
10.1016/j.fsc.2016.06.006.
Brugmann, S. A., L. H. Goodnough, A. Gregorieff, et al. 2007.
“Wnt signaling mediates regional specifcation in the vertebrate face.” Development 134 (18):3283–95. doi: 10.1242/
dev.005132.
Buchanan, E. P., A. S. Xue, and L. H. Hollier, Jr. 2014. “Craniofacial
syndromes.” Plast Reconstr Surg 134 (1):128e–53e. doi:
10.1097/PRS.0000000000000308.
Cajal, M., S. E. Creuzet, C. Papanayotou, et al. 2014. “A conserved
role for non-neural ectoderm cells in early neural development.” Development 141 (21):4127–38. doi: 10.1242/
dev.107425.
Chai, Y., and R. E. Maxson, Jr. 2006. “Recent advances in craniofacial morphogenesis.” Dev Dyn 235 (9):2353–75. doi:
10.1002/dvdy.20833.
Chapman, S. C., A. L. Sawitzke, D. S. Campbell, et al. 2005. “A
three-dimensional atlas of pituitary gland development in
the zebraf sh.” J Comp Neurol 487 (4):428–40. doi: 10.1002/
cne.20568.
Cheeran, M. C., J. R. Lokensgard, and M. R. Schleiss. 2009.
“Neuropathogenesis of congenital cytomegalovirus infection: Disease mechanisms and prospects for intervention.”
Clin Microbiol Rev 22 (1):99–126, Table of Contents. doi:
10.1128/CMR.00023–08.
Chen, J. 2018. “The extreme anterior domain coordinates brain and
craniofacial development.” Thesis: Ph. D., Department of
Biology, MIT, http://hdl.handle.net/1721.1/117870
Chen, J., L. A. Jacox, F. Saldanha, et al. 2017. “Mouth development.” Wiley Interdiscip Rev Dev Biol 6 (5). doi: 10.1002/
wdev.275.
Chung, J. J., H. Im, S. H. Kim, et al. 2020. “Toward biomimetic
scaffolds for tissue engineering: 3D printing techniques in
regenerative medicine.” Front Bioeng Biotechnol 8:586406.
doi: 10.3389/fbioe.2020.586406.
Clagett-Dame, M., and D. Knutson. 2011. “Vitamin A in reproduction and development.” Nutrients 3 (4):385–428. doi:
10.3390/nu3040385.
Cortes, C. R., V. Metzis, and C. Wicking. 2015. “Unmasking the
ciliopathies: Craniofacial defects and the primary cilium.”
Wiley Interdiscip Rev Dev Biol 4 (6):637–53. doi: 10.1002/
wdev.199.
Couly, G. F., P. M. Coltey, and N. M. Le Douarin. 1993. “The triple
origin of skull in higher vertebrates: A study in quail-chick
chimeras.” Development 117:409–29. doi: doi.org/10.1242/
dev.117.2.409.
Couly, G. F., S. Creuzet, S. Bennaceur, et al. 2002. “Interactions
between Hox-negative cephalic neural crest cells and the
Craniofacial Development and Disorders
with emphasis on Xenopus as a model system. Formation
of craniofacial structures is a complex process that includes
neural crest cells that give rise to the cartilages or bones
of the face and skull, while the extreme anterior domain
forms the mouth. Gene regulatory networks drive craniofacial development, while the EAD is a major early facial
signaling center or organizer. Analyses in Xenopus have
been pivotal in uncovering processes directing craniofacial development and in defning the EAD as an organizer.
Craniofacial anomalies are frequent and associated with
genetic, environmental, and nutritional factors. Def ning
genes and processes underlying human disorders is critical
for proper diagnosis and new treatments. This is being facilitated using the Xenopus system—either through knowledge
from fundamental research or by direct assay of gene variants or environmental perturbations. Xenopus remains one
of the most accessible systems for uncovering connections to
human craniofacial disorders.
REFERENCES
Abu-Daya, A., M. K. Khokha, and L. B. Zimmerman. 2012. “The
hitchhiker’s guide to Xenopus genetics.” Genesis 50 (3):164–
75. doi: 10.1002/dvg.22007.
Adams, A. E. 1931. “Some effects of removal of endoderm from the
mouth region of early Amblystoma punctatum embryos.” The
Journal of Experimental Zoology 58. doi: doi.org/10.1002/
jez.1400580108.
Adams, D. S., S. G. Uzel, J. Akagi, et al. 2016. “Bioelectric signalling via potassium channels: A mechanism for craniofacial
dysmorphogenesis in KCNJ2-associated Andersen-Tawil
Syndrome.” J Physiol 594 (12):3245–3270. doi: 10.1113/
JP271930.
Alappat, S., Z. Y. Zhang, and Y. P. Chen. 2003. “Msx homeobox
gene family and craniofacial development.” Cell Res 13
(6):429–42. doi: doi.org/10.1038/sj.cr.7290185.
Aybar, M. J., and R. Mayor. 2002. “Early induction of neural crest
cells: lessons learned from frog, fsh and chick.” Current
Opinion in Genetics & Development 12 (4):452–8.
Bajpai, R., D. A. Chen, A. Rada-Iglesias, et al. 2010. “CHD7
cooperates with PBAF to control multipotent neural crest
formation.” Nature 463 (7283):958–962. doi: 10.1038/
nature08733.
Barriga, E. H., P. A. Trainor, M. Bronner, et al. 2015. “Animal
models for studying neural crest development: Is the mouse
different?” Development 142 (9):1555–60. doi: 10.1242/
dev.121590.
Bartzela, T. N., C. Carels, and J. C. Maltha. 2017. “Update on
13 syndromes affecting craniofacial and dental structures.”
Front Physiol 8:1038. doi: 10.3389/fphys.2017.01038.
Bast, T. H., B. J. Anson, and S. F. Richany. 1955. “The development
of the second branchial arch (Reichert’s cartilage), facial
canal and associated structures in man.” Annals of Otology,
Rhinology and Laryngology 64 (3):802–24.
Bauermeister, A. J., A. Zuriarrain, and M. I. Newman. 2016.
“Three-dimensional printing in plastic and reconstructive
surgery: A systematic review.” Ann Plast Surg 77 (5):569–76.
doi: 10.1097/SAP.0000000000000671.
Betancur, P., M. Bronner-Fraser, and T. Sauka-Spengler. 2010.
“Assembling neural crest regulatory circuits into a gene regulatory network.” Annu Rev Cell Dev Biol 26:581–603. doi:
10.1146/annurev.cellbio.042308.113245.
Birgfeld, C. B., and C. Heike. 2012. “Craniofacial microsomia.” Semin
Plast Surg 26 (2):91–104. doi: 10.1055/s-0032–1320067.
Blum, M., K. Feistel, T. Thumberger, et al. 2014. “The evolution and conservation of left-right patterning mechanisms.”
Development 141 (8):1603–13. doi: 10.1242/dev.100560.
Blum, M., A. Schweickert, P. Vick, et al. 2014. “Symmetry breakage in the vertebrate embryo: When does it happen and how
does it work?” Dev Biol 393 (1):109–23. doi: 10.1016/j.
ydbio.2014.06.014.
Bogusiak, K., A. Puch, and P. Arkuszewski. 2017. “Goldenhar syndrome: current perspectives.” World J Pediatr 13 (5):405–15.
doi: 10.1007/s12519–017–0048-z.
Borrelli, M. R., M. S. Hu, M. T. Longaker, et al. 2020. “Tissue engineering and regenerative medicine in craniofacial reconstruction and facial aesthetics.” J Craniofac Surg 31 (1):15–27.
doi: 10.1097/SCS.0000000000005840.
Brandstetter, K. A., and K. G. Patel. 2016. “Craniofacial microsomia.” Facial Plast Surg Clin North Am 24 (4):495–515. doi:
10.1016/j.fsc.2016.06.006.
Brugmann, S. A., L. H. Goodnough, A. Gregorieff, et al. 2007.
“Wnt signaling mediates regional specifcation in the vertebrate face.” Development 134 (18):3283–95. doi: 10.1242/
dev.005132.
Buchanan, E. P., A. S. Xue, and L. H. Hollier, Jr. 2014. “Craniofacial
syndromes.” Plast Reconstr Surg 134 (1):128e–53e. doi:
10.1097/PRS.0000000000000308.
Cajal, M., S. E. Creuzet, C. Papanayotou, et al. 2014. “A conserved
role for non-neural ectoderm cells in early neural development.” Development 141 (21):4127–38. doi: 10.1242/
dev.107425.
Chai, Y., and R. E. Maxson, Jr. 2006. “Recent advances in craniofacial morphogenesis.” Dev Dyn 235 (9):2353–75. doi:
10.1002/dvdy.20833.
Chapman, S. C., A. L. Sawitzke, D. S. Campbell, et al. 2005. “A
three-dimensional atlas of pituitary gland development in
the zebraf sh.” J Comp Neurol 487 (4):428–40. doi: 10.1002/
cne.20568.
Cheeran, M. C., J. R. Lokensgard, and M. R. Schleiss. 2009.
“Neuropathogenesis of congenital cytomegalovirus infection: Disease mechanisms and prospects for intervention.”
Clin Microbiol Rev 22 (1):99–126, Table of Contents. doi:
10.1128/CMR.00023–08.
Chen, J. 2018. “The extreme anterior domain coordinates brain and
craniofacial development.” Thesis: Ph. D., Department of
Biology, MIT, http://hdl.handle.net/1721.1/117870
Chen, J., L. A. Jacox, F. Saldanha, et al. 2017. “Mouth development.” Wiley Interdiscip Rev Dev Biol 6 (5). doi: 10.1002/
wdev.275.
Chung, J. J., H. Im, S. H. Kim, et al. 2020. “Toward biomimetic
scaffolds for tissue engineering: 3D printing techniques in
regenerative medicine.” Front Bioeng Biotechnol 8:586406.
doi: 10.3389/fbioe.2020.586406.
Clagett-Dame, M., and D. Knutson. 2011. “Vitamin A in reproduction and development.” Nutrients 3 (4):385–428. doi:
10.3390/nu3040385.
Cortes, C. R., V. Metzis, and C. Wicking. 2015. “Unmasking the
ciliopathies: Craniofacial defects and the primary cilium.”
Wiley Interdiscip Rev Dev Biol 4 (6):637–53. doi: 10.1002/
wdev.199.
Couly, G. F., P. M. Coltey, and N. M. Le Douarin. 1993. “The triple
origin of skull in higher vertebrates: A study in quail-chick
chimeras.” Development 117:409–29. doi: doi.org/10.1242/
dev.117.2.409.
Couly, G. F., S. Creuzet, S. Bennaceur, et al. 2002. “Interactions
between Hox-negative cephalic neural crest cells and the