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Biology
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Craniofacial Development and Evolution
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Craniofacial Development and Evolution

A special issue of Biology (ISSN 2079-7737). This special issue belongs to the section "Developmental Biology".

Deadline for manuscript submissions: closed (30 November 2022) | Viewed by 10405

Special Issue Editor

Dr. Jennifer Fish

E-Mail Website
Guest Editor
Department of Biological Sciences, University of Massachusetts Lowell, Lowell, MA 01854, USA
Interests: craniofacial development and evolution; SATB2; developmental mechanisms; splicing; osteogenesis

Special Issue Information

Dear Colleagues,

The skull is a vertebrate novelty, the origin and diversification of which is associated with major evolutionary transitions, including the shift to a predatory lifestyle, the colonization of land, and the ability to masticate while breathing. Despite being the most complex skeletal structure in the vertebrate body, the skull exhibits incredible morphological diversity, which is remarkable given the high functional demands on the skull that have a direct impact on fitness (e.g., eating, breathing). The developmental, genetic, and epigenetic mechanisms contributing to or constraining craniofacial variation are not fully understood. Furthermore, the environmental and ecological context of development can impact both the form and function of the craniofacial structures, although much remains to be elucidated in this regard. This Special Issue will provide a broad overview of craniofacial development and evolution. We invite perspectives on the development, evolution, and/or morphological variation of any tissue or structure in the vertebrate head. Investigations of the mechanisms facilitating the evolvability and plasticity of the craniofacial structures are encouraged. Submissions may include both original research projects and reviews.

Dr. Jennifer Fish
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biology is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Published Papers (4 papers)

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Research

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19 pages, 3628 KiB  
Article
Morphometric and Genetic Description of Trophic Adaptations in Cichlid Fishes
by Leah DeLorenzo, Victoria DeBrock, Aldo Carmona Baez, Patrick J. Ciccotto, Erin N. Peterson, Clare Stull, Natalie B. Roberts, Reade B. Roberts and Kara E. Powder
Biology 2022, 11(8), 1165; https://doi.org/10.3390/biology11081165 - 03 Aug 2022
Cited by 3 | Viewed by 3144
Abstract
Since Darwin, biologists have sought to understand the evolution and origins of phenotypic adaptations. The skull is particularly diverse due to intense natural selection on feeding biomechanics. We investigated the genetic and molecular origins of trophic adaptation using Lake Malawi cichlids, which have [...] Read more.
Since Darwin, biologists have sought to understand the evolution and origins of phenotypic adaptations. The skull is particularly diverse due to intense natural selection on feeding biomechanics. We investigated the genetic and molecular origins of trophic adaptation using Lake Malawi cichlids, which have undergone an exemplary evolutionary radiation. We analyzed morphological differences in the lateral and ventral head shape among an insectivore that eats by suction feeding, an obligate biting herbivore, and their F2 hybrids. We identified variation in a series of morphological traits—including mandible width, mandible length, and buccal length—that directly affect feeding kinematics and function. Using quantitative trait loci (QTL) mapping, we found that many genes of small effects influence these craniofacial adaptations. Intervals for some traits were enriched in genes related to potassium transport and sensory systems, the latter suggesting co-evolution of feeding structures and sensory adaptations for foraging. Despite these indications of co-evolution of structures, morphological traits did not show covariation. Furthermore, phenotypes largely mapped to distinct genetic intervals, suggesting that a common genetic basis does not generate coordinated changes in shape. Together, these suggest that craniofacial traits are mostly inherited as separate modules, which confers a high potential for the evolution of morphological diversity. Though these traits are not restricted by genetic pleiotropy, functional demands of feeding and sensory structures likely introduce constraints on variation. In all, we provide insights into the quantitative genetic basis of trophic adaptation, identify mechanisms that influence the direction of morphological evolution, and provide molecular inroads to craniofacial variation. Full article
(This article belongs to the Special Issue Craniofacial Development and Evolution)
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13 pages, 673 KiB  
Article
Robustness of Distinctive Facial Features in Prader-Willi Syndrome: A Stereophotogrammetric Analysis and Association with Clinical and Biochemical Markers in Adult Individuals
by Claudia Dolci, Antonello E. Rigamonti, Annalisa Cappella, Daniele M. Gibelli, Graziano Grugni, Diana Caroli, Chiarella Sforza and Alessandro Sartorio
Biology 2022, 11(8), 1148; https://doi.org/10.3390/biology11081148 - 30 Jul 2022
Cited by 1 | Viewed by 2608
Abstract
Background: Prader-Willi syndrome (PWS) is a rare genomic imprinting disorder associated to a complex neurodevelopmental phenotype and a distinctive facial appearance. The study investigated the relationships between the quantitative facial dysmorphism in PWS and clinical and biochemical markers of the disease and its [...] Read more.
Background: Prader-Willi syndrome (PWS) is a rare genomic imprinting disorder associated to a complex neurodevelopmental phenotype and a distinctive facial appearance. The study investigated the relationships between the quantitative facial dysmorphism in PWS and clinical and biochemical markers of the disease and its treatment. Methods: Facial images of 15 Caucasian adult individuals with PWS (8 males, 42 ± 5 years; 7 females, 37 ± 8 years; BMI 38.87 ± 8.92 kg/m2) were acquired through stereophotogrammetry. From the 3D coordinates of 38 landmarks, linear distances and angles were calculated; they were expressed as z-score values by referring to 403 healthy subjects matched for age and sex and compared by Student’s t-test with Bonferroni correction for multiple testing. Patients underwent auxological and biochemical assessment of endocrine/metabolic dysfunction and nocturnal respiratory function. An exploratory correlation analysis was performed to investigate their associations with the facial phenotype; uncorrected p-values were used. Results and Conclusions: Individuals with PWS showed decreased bifrontal diameter, facial depths, palpebral fissures, mandibular ramus length, lower vermillion height, and modified relative position of exocanthia and nasion. Since these characteristics did not show any associations with clinical and biochemical markers of PWS, they could constitute robust distinctive facial features and contribute to the diagnosis of the disorder. Individuals with PWS showed also a larger mandibular width with smaller gonial angles, thinner upper vermillion, greater inclination of the orbit relative to the Frankfurt plane, and a smaller angle of the auricles versus the facial midplane. Relationships between these facial anthropometric features and body composition, glucidic metabolism indexes, nocturnal hypoxemia episodes, or duration of GH treatment were found, suggesting their potentially useful role in the clinical monitoring and management of the disease. However, they need to be confirmed by subsequent dedicated studies. Full article
(This article belongs to the Special Issue Craniofacial Development and Evolution)
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13 pages, 302 KiB  
Article
Cranial-Vertebral-Maxillary Morphological Integration in Down Syndrome
by Marta Teresa García-García, Pedro Diz-Dios, María Teresa Abeleira-Pazos, Jacobo Limeres-Posse, Eliane García-Mato, Iván Varela-Aneiros, Mercedes Outumuro-Rial and Márcio Diniz-Freitas
Biology 2022, 11(4), 496; https://doi.org/10.3390/biology11040496 - 24 Mar 2022
Cited by 1 | Viewed by 1629
Abstract
Background: Morphological integration refers to the tendency of anatomical structures to show correlated variations because they develop in response to shared developmental processes or function in concert with other structures. The objective of this study was to determine the relationships between the dimensions [...] Read more.
Background: Morphological integration refers to the tendency of anatomical structures to show correlated variations because they develop in response to shared developmental processes or function in concert with other structures. The objective of this study was to determine the relationships between the dimensions of different cranial-cervical-facial structures in patients with Down syndrome (DS). Methodology: The study group consisted of 41 individuals with DS who had undergone cone-beam computed tomography (CBCT) at the Dental Radiology Unit of the University of Santiago de Compostela (Spain). In the historical archive of this same unit, 41 CBCTs belonging to individuals with no known systemic disorders or severe malformations of the maxillofacial region were selected, forming an age and sex-matched control group. Twenty-nine measurements were performed on each participant’s CBCT images, which were grouped into three blocks: atlantoaxial dimensions, craniovertebral dimensions and cephalometric dimensions. To determine whether there were significant differences between the dimensions obtained in the DS and control groups, we applied multiple analysis of variance and linear discriminant analysis tests. The analysis of the association between blocks (in pairs) was performed with the canonical correlation analysis test. Results: The dimensions evaluated in the three blocks of variables of individuals with DS differ significantly from those of nonsyndromic controls (p < 0.001). The highest discriminative capacity to identify controls and patients with DS was obtained with the cephalometric dimensions (87.5%). With regard to the association between blocks (two-by-two measurements), we found no significant relationship in the DS group. However, we confirmed a statistically significant correlation between all pairs of blocks of variables in the controls, especially between the atlantoaxial and cephalometric dimensions (p < 0.001) and between the craniovertebral and cephalometric dimensions (p < 0.001). Conclusions: Our results confirm a very poor morphological integration of the cranial-cervical-maxillary complex in individuals with DS. This finding reinforces the proposal that gene overload enhances the channeling process. Full article
(This article belongs to the Special Issue Craniofacial Development and Evolution)

Review

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13 pages, 2430 KiB  
Review
New Insights into the Diversity of Branchiomeric Muscle Development: Genetic Programs and Differentiation
by Imadeldin Yahya, Dorit Hockman, Beate Brand-Saberi and Gabriela Morosan-Puopolo
Biology 2022, 11(8), 1245; https://doi.org/10.3390/biology11081245 - 22 Aug 2022
Viewed by 2123
Abstract
Branchiomeric skeletal muscles are a subset of head muscles originating from skeletal muscle progenitor cells in the mesodermal core of pharyngeal arches. These muscles are involved in facial expression, mastication, and function of the larynx and pharynx. Branchiomeric muscles have been the focus [...] Read more.
Branchiomeric skeletal muscles are a subset of head muscles originating from skeletal muscle progenitor cells in the mesodermal core of pharyngeal arches. These muscles are involved in facial expression, mastication, and function of the larynx and pharynx. Branchiomeric muscles have been the focus of many studies over the years due to their distinct developmental programs and common origin with the heart muscle. A prerequisite for investigating these muscles’ properties and therapeutic potential is understanding their genetic program and differentiation. In contrast to our understanding of how branchiomeric muscles are formed, less is known about their differentiation. This review focuses on the differentiation of branchiomeric muscles in mouse embryos. Furthermore, the relationship between branchiomeric muscle progenitor and neural crest cells in the pharyngeal arches of chicken embryos is also discussed. Additionally, we summarize recent studies into the genetic networks that distinguish between first arch-derived muscles and other pharyngeal arch muscles. Full article
(This article belongs to the Special Issue Craniofacial Development and Evolution)
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