YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up‐regulating apoptosis. Issue 8 (16th July 2015)

• Record Type: Journal Article
• Authors: Tan, Tiong Yang; Gordon, Christopher T.; Miller, Kerry A; Amor, David J.; Farlie, Peter G.
• Is Part Of: Developmental dynamics. Volume 244:Issue 8(2015:Aug.)
• Page Start: 1022
• Page End: 1030
• Publication Date: 2015-07-16
• Subjects: Morphogenesis -- Periodicals; Anatomy -- Periodicals; Anatomie -- Périodiques; Biologie du développement -- Périodiques; 571.833
• DOI: 10.1002/dvdy.24299
• Languages: English
• ISSNs: 1058-8388

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <bold> <underline>Background:</underline> </bold> The <italic>YPEL</italic> (<italic>Yippee‐like</italic>) gene family comprises five highly conserved members (<italic>YPEL1‐5</italic>), but their biological function remains largely unknown. Early studies of <italic>YPEL1</italic> function suggested that it plays a role in the development of structures derived from the pharyngeal arches. Human <italic>YPEL1</italic> localises to distal chromosome 22q11.2 and copy number changes at this locus lead to diverse phenotypes that include facial dysmorphism, facial asymmetry, and palatal anomalies comprising the distal 22q11.2 deletion/duplication syndromes (OMIM 611867). We therefore investigated the role of chick <italic>YPEL1</italic> in craniofacial development using ex vivo and in vivo approaches in the avian model. <bold><underline>Results:</underline></bold> We found that retroviral‐mediated in vivo overexpression of <italic>YPEL1</italic> causes abnormal mandibular morphogenesis associated with increased apoptosis and involvement of the <italic>BMP</italic>/<italic>MSX</italic> pathway. <bold><underline>Conclusions:</underline></bold> Our results suggest that <italic>YPEL1</italic> expression is regulated by bone morphogenetic protein signaling and suggest a role for <italic>YPEL1</italic> in the pathogenesis of the craniofacial abnormalities observed in humans with distal chromosome 22q11.2 deletions or duplications. <italic>Developmental Dynamics 244:1022–1030, 2015</italic>. © 2015 Wiley Periodicals, Inc.</p> </abstract>