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Toward an orofacial gene regulatory network.
Dev Dyn. 2016 Mar; 245(3):220-32.DD

Abstract

Orofacial clefting is a common birth defect with significant morbidity. A panoply of candidate genes have been discovered through synergy of animal models and human genetics. Among these, variants in interferon regulatory factor 6 (IRF6) cause syndromic orofacial clefting and contribute risk toward isolated cleft lip and palate (1/700 live births). Rare variants in IRF6 can lead to Van der Woude syndrome (1/35,000 live births) and popliteal pterygium syndrome (1/300,000 live births). Furthermore, IRF6 regulates GRHL3 and rare variants in this downstream target can also lead to Van der Woude syndrome. In addition, a common variant (rs642961) in the IRF6 locus is found in 30% of the world's population and contributes risk for isolated orofacial clefting. Biochemical studies revealed that rs642961 abrogates one of four AP-2alpha binding sites. Like IRF6 and GRHL3, rare variants in TFAP2A can also lead to syndromic orofacial clefting with lip pits (branchio-oculo-facial syndrome). The literature suggests that AP-2alpha, IRF6 and GRHL3 are part of a pathway that is essential for lip and palate development. In addition to updating the pathways, players and pursuits, this review will highlight some of the current questions in the study of orofacial clefting.

Authors+Show Affiliations

Biochemistry and Molecular Biology Department, Michigan State University, East Lansing, Michigan.Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, Michigan.

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Review

Language

eng

PubMed ID

26332872

Citation

Kousa, Youssef A., and Brian C. Schutte. "Toward an Orofacial Gene Regulatory Network." Developmental Dynamics : an Official Publication of the American Association of Anatomists, vol. 245, no. 3, 2016, pp. 220-32.
Kousa YA, Schutte BC. Toward an orofacial gene regulatory network. Dev Dyn. 2016;245(3):220-32.
Kousa, Y. A., & Schutte, B. C. (2016). Toward an orofacial gene regulatory network. Developmental Dynamics : an Official Publication of the American Association of Anatomists, 245(3), 220-32. https://doi.org/10.1002/dvdy.24341
Kousa YA, Schutte BC. Toward an Orofacial Gene Regulatory Network. Dev Dyn. 2016;245(3):220-32. PubMed PMID: 26332872.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Toward an orofacial gene regulatory network. AU - Kousa,Youssef A, AU - Schutte,Brian C, Y1 - 2015/09/17/ PY - 2015/06/15/received PY - 2015/08/17/revised PY - 2015/08/17/accepted PY - 2017/03/01/pmc-release PY - 2015/9/3/entrez PY - 2015/9/4/pubmed PY - 2016/11/12/medline KW - GRHL3 KW - IRF6 KW - TFAP2A KW - Van der Woude syndrome KW - branchio-oculo-facial syndrome KW - cleft lip and palate KW - embryonic development KW - mouse models KW - popliteal pterygium syndrome SP - 220 EP - 32 JF - Developmental dynamics : an official publication of the American Association of Anatomists JO - Dev Dyn VL - 245 IS - 3 N2 - Orofacial clefting is a common birth defect with significant morbidity. A panoply of candidate genes have been discovered through synergy of animal models and human genetics. Among these, variants in interferon regulatory factor 6 (IRF6) cause syndromic orofacial clefting and contribute risk toward isolated cleft lip and palate (1/700 live births). Rare variants in IRF6 can lead to Van der Woude syndrome (1/35,000 live births) and popliteal pterygium syndrome (1/300,000 live births). Furthermore, IRF6 regulates GRHL3 and rare variants in this downstream target can also lead to Van der Woude syndrome. In addition, a common variant (rs642961) in the IRF6 locus is found in 30% of the world's population and contributes risk for isolated orofacial clefting. Biochemical studies revealed that rs642961 abrogates one of four AP-2alpha binding sites. Like IRF6 and GRHL3, rare variants in TFAP2A can also lead to syndromic orofacial clefting with lip pits (branchio-oculo-facial syndrome). The literature suggests that AP-2alpha, IRF6 and GRHL3 are part of a pathway that is essential for lip and palate development. In addition to updating the pathways, players and pursuits, this review will highlight some of the current questions in the study of orofacial clefting. SN - 1097-0177 UR - https://www.unboundmedicine.com/medline/citation/26332872/Toward_an_orofacial_gene_regulatory_network_ L2 - https://doi.org/10.1002/dvdy.24341 DB - PRIME DP - Unbound Medicine ER -