Abstract:Craniofacial sutures and synchondroses form the boundaries among bones in the human skull, providing functional, developmental and evolutionary information. Bone articulations in the skull arise due to interactions between genetic regulatory mechanisms and epigenetic factors such as functional matrices (soft tissues and cranial cavities), which mediate bone growth. These matrices are largely acknowledged for their influence on shaping the bones of the skull; however, it is not fully understood to what extent f… Show more
“…brain, nasal, and oral cavities) in shaping cranial modularity and morphological variation (e.g. Lieberman, 2011 a , b ; Esteve‐Altava & Rasskin‐Gutman, ), the influence of functional matrices is generally acknowledged in craniofacial development. However, there are few studies that evaluate the modularity of the cranium in relation to, or together with, its surrounding soft tissues (e.g.…”
Morphological modularity arises in complex living beings due to a semi-independent inheritance, development, and function of body parts. Modularity helps us to understand the evolvability and plasticity of organismal form, and how morphological variation is structured during evolution and development. For this reason, delimiting morphological modules and establishing the factors involved in their origins is a lively field of inquiry in biology today.Although it is thought that modularity is pervasive in all living beings, actually we do not know how often modularity is present in different morphological systems. We also do not know whether some methodological approaches tend to reveal modular patterns more easily than others, or whether some factors are more related to the formation of modules or the integration of the whole phenotype. This systematic review seeks to answer these type of questions through an examination of research investigating morphological modularity from 1958 to present. More than 200 original research articles were gathered in order to reach a quantitative appraisal on what is studied, how it is studied, and how the results are explained.The results reveal an heterogeneous picture, where some taxa, systems, and approaches are over-studied, while others receive minor attention. Thus, this review points out various trends and gaps in the study of morphological modularity, offering a broad picture of current knowledge and where we can direct future research efforts.
“…brain, nasal, and oral cavities) in shaping cranial modularity and morphological variation (e.g. Lieberman, 2011 a , b ; Esteve‐Altava & Rasskin‐Gutman, ), the influence of functional matrices is generally acknowledged in craniofacial development. However, there are few studies that evaluate the modularity of the cranium in relation to, or together with, its surrounding soft tissues (e.g.…”
Morphological modularity arises in complex living beings due to a semi-independent inheritance, development, and function of body parts. Modularity helps us to understand the evolvability and plasticity of organismal form, and how morphological variation is structured during evolution and development. For this reason, delimiting morphological modules and establishing the factors involved in their origins is a lively field of inquiry in biology today.Although it is thought that modularity is pervasive in all living beings, actually we do not know how often modularity is present in different morphological systems. We also do not know whether some methodological approaches tend to reveal modular patterns more easily than others, or whether some factors are more related to the formation of modules or the integration of the whole phenotype. This systematic review seeks to answer these type of questions through an examination of research investigating morphological modularity from 1958 to present. More than 200 original research articles were gathered in order to reach a quantitative appraisal on what is studied, how it is studied, and how the results are explained.The results reveal an heterogeneous picture, where some taxa, systems, and approaches are over-studied, while others receive minor attention. Thus, this review points out various trends and gaps in the study of morphological modularity, offering a broad picture of current knowledge and where we can direct future research efforts.
“…This network model is thus a mathematical representation of the entire pattern of structural relations (i.e., physical contacts or articulations) among skull bones. Anatomical network models have been used before, for example, to identify developmental constraints in skull evolution 12, 13 , analyze the evolution of tetrapod disparity in morphospace across phylogeny 14 , and model the growth of human skull bones 15 . A recent comparison of network models of craniosynostosis conditions showed that, despite the associated abnormal shape variation, skulls with different types of craniosynostosis share a same general pattern of network modules 16 .Figure 1The arrangement of bones in the human skull at birth modeled as a network ( top ).…”
Craniosynostosis, the premature fusion of cranial bones, affects the correct development of the skull producing morphological malformations in newborns. To assess the susceptibility of each craniofacial articulation to close prematurely, we used a network model of the skull to quantify the link reliability (an index based on stochastic block models and Bayesian inference) of each articulation. We show that, of the 93 human skull articulations at birth, the few articulations that are associated with non-syndromic craniosynostosis conditions have statistically significant lower reliability scores than the others. In a similar way, articulations that close during the normal postnatal development of the skull have also lower reliability scores than those articulations that persist through adult life. These results indicate a relationship between the architecture of the skull and the specific articulations that close during normal development as well as in pathological conditions. Our findings suggest that the topological arrangement of skull bones might act as a structural constraint, predisposing some articulations to closure, both in normal and pathological development, also affecting the long-term evolution of the skull.
“…24,27 Aggrecan is the major proteoglycan in articular cartilage and condylar cartilage, which is the center of mandibular growth after birth. 28,29 Aggrecan, which constitutes 90% of dried articular cartilage, acts as a template for physiological and pathological processes in the condyle. 26,28 Aggrecan mutant chickens exhibit severe skeletal defects, including deformed and shortened limb elements.…”
Mandibular prognathism is characterized by a prognathic or prominent mandible. The objective of this study was to find the gene responsible for mandibular prognathism. Whole exome sequencing analysis of a Thai family (family 1) identified the ADAMTSL1 c.176C>A variant as the potential defect. We cross‐checked our exome data of 215 people for rare variants in ADAMTSL1 and found that the c.670C>G variant was associated with mandibular prognathism in families 2 and 4. Mutation analysis of ADAMTSL1 in 79 unrelated patients revealed the c.670C>G variant was also found in family 3. We hypothesize that mutations in ADAMTSL1 cause failure to cleave aggrecan in the condylar cartilage, and that leads to overgrowth of the mandible. Adamtsl1 is strongly expressed in the condensed mesenchymal cells of the mouse condyle, but not at the cartilage of the long bones. This explains why the patients with ADAMTSL1 mutations had abnormal mandibles but normal long bones. This is the first report that mutations in ADAMTSL1 are responsible for the pathogenesis of mandibular prognathism.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
