Illustrated Review of the Embryology and Development of the Facial Region, Part 3: An Overview of the Molecular Interactions Responsible for Facial Development

Abstract

SUMMARY: Parts 1 and 2 of this review discussed the complex morphogenesis of the face. However, the molecular processes that drive the morphology of the face were not addressed. Part 3 of this review will present an overview of the genes and their products that have been implicated in the developing face. ABBREVIATIONS:BMP ϭ bone morphogenic protein; Fgf ϭ fibroblast growth factor; PDGF ϭ platelet-derived growth factor; Shh ϭ sonic hedgehog; TGF␤ ϭ

Insights into the genetic architecture of the human face

“…S5). Quadrants II and IV 104 together approximate the frontonasal prominence, which appears earlier in development than the mandibular and maxillary prominences, which are approximated by Quadrants I and III 14 . 106 Together, these results indicate that hierarchical spectral clustering of the face based on structural correlations effectively partitions underlying genetic signals into biologically coherent groups.…”

“…To gauge activity, we 144 analyzed ChIP-seq signals of acetylation of histone H3 on lysine K27 (H3K27ac), which is a marker of the promoters of transcriptionally active genes and active distal enhancers 19,20 . We 146 compiled H3K27ac ChIP-seq signals from approximately 100 different cell types and tissues, including CNCCs, fetal and adult osteoblasts, mesenchymal stem cell-derived chondrocytes, as 148 well as dissected embryonic craniofacial tissues (Carnegie stages [13][14][15][16][17][18][19][20]. Both CNCCs and craniofacial tissues showed the highest H3K27ac signals in the vicinity of the 203 lead SNPs, 150 whereas no H3K27ac signal was observed for 203 random SNPs matched for allele frequency and distance to the nearest gene ( Fig.…”

Comparative effects of neonatal diethylstilbestrol on external genitalia development in adult males of two mouse strains with differential estrogen sensitivity

“…Thus, multiple fusion events appear to be involved in development of the urethral meatus, which are profoundly impaired/distorted as a result of perinatal DES treatment. In this sense, development of the urethral meatus in mice may share many developmental features with development of the palate and face, which occurs as a result of fusion of bilateral elements (Bush and Jiang, 2012; Som and Naidich, 2013; 2014; Som et al, 2014). …”

Normal embryonic development of the greater horseshoe bat Rhinolophus ferrumequinum, with special reference to nose leaf formation

“…The musculus nasalis pars transversa and “the noseleaf muscle” might be derived from the mimetic muscle because all eight nose leaf associated muscles insert into the connective tissue under the facial skin (Göbbel, ). In early development of the mimetic muscle in humans, cranial mesoderm‐derived myoblasts form a lamina within the second pharyngeal arch (Som, Streit, & Naidich, ). Subsequently, the lamina is divided into five branches that then migrate into the superficial portions of the future temporal, occipital, infraorbital, cervical, and mandibular domains of the face, respectively.…”

“…Subsequently, the lamina is divided into five branches that then migrate into the superficial portions of the future temporal, occipital, infraorbital, cervical, and mandibular domains of the face, respectively. Mimetic muscles distributed in the forehead, nasal, and upper lip regions are derived from the myoblasts that constitute the infraorbital lamina (Som et al, ). The musculus nasalis pars transversa and “the noseleaf muscle” are likely derived from a group of myoblasts isolated from the infraorbital lamina and occupying novel positions in the forehead region.…”