International Collaborating Centre in Oro-facial Genetics and Development, University of Liverpool, School of Dental Sciences, Edwards Building, Daulby Street, Pembroke Place, Liverpool, L69 3GN, UK.
Arch Oral Biol. 2009 Dec;54 Suppl 1(Suppl 1):S3-17. doi: 10.1016/j.archoralbio.2009.09.005. Epub 2009 Nov 13.
Dental anomalies are caused by complex interactions between genetic, epigenetic and environmental factors during the long process of dental development. This process is multifactorial, multilevel, multidimensional and progressive over time. In this paper the evidence from animal models and from human studies is integrated to outline the current position and to construct and evaluate models, as a basis for future work. Dental development is multilevel entailing molecular and cellular interactions which have macroscopic outcomes. It is multidimensional, requiring developments in the three spatial dimensions and the fourth dimension of time. It is progressive, occurring over a long period, yet with critical stages. The series of interactions involving multiple genetic signalling pathways are also influenced by extracellular factors. Interactions, gradients and spatial field effects of multiple genes, epigenetic and environmental factors all influence the development of individual teeth, groups of teeth and the dentition as a whole. The macroscopic, clinically visible result in humans is a complex unit of four different tooth types formed in morphogenetic fields, in which teeth within each field form directionally and erupt at different times, reflecting the spatio-temporal control of development. Even when a specific mutation of a single gene or one major environmental insult has been identified in a patient with a dental anomaly, detailed investigation of the phenotype often reveals variation between affected individuals in the same family, between dentitions in the same individual and even between different teeth in the same dentition. The same, or closely similar phenotypes, whether anomalies of tooth number or structure, may arise from different aetiologies: not only mutations in different genes but also environmental factors may result in similar phenotypes. Related to the action of a number of the developmental regulatory genes active in odontogenesis, in different tissues, mutations can result in syndromes of which dental anomalies are part. Disruption of the antagonistic balance between developmental regulatory genes, acting as activators or inhibitors can result in dental anomalies. There are critical stages in the development of the individual tooth germs and, if progression fails, the germ will not develop further or undergoes apoptosis. The reiterative signalling patterns over time during the sequential process of initiation and morphogenesis are reflected in the clinical association of anomalies of number, size and form and the proposed models. An initial step in future studies is to combine the genetic investigations with accurate recording and measurement of the phenotype. They also need to collate findings at each level and exploit the accurate definition of both human and murine phenotypes now possible.
牙齿畸形是由遗传、表观遗传和环境因素在牙齿发育的漫长过程中相互复杂作用引起的。这一过程是多因素的、多层次的、多维的,并随着时间的推移而不断发展。本文整合了来自动物模型和人类研究的证据,概述了目前的状况,并构建和评估了模型,作为未来工作的基础。牙齿发育是多层次的,涉及分子和细胞相互作用,这些相互作用具有宏观结果。它是多维的,需要在三个空间维度和第四个时间维度上发展。它是渐进的,需要经过很长一段时间,但有关键阶段。涉及多个基因信号通路的一系列相互作用也受到细胞外因素的影响。多个基因、表观遗传和环境因素的相互作用、梯度和空间场效应都影响着单个牙齿、一组牙齿和整个牙列的发育。在人类中,宏观的、临床上可见的结果是由在形态发生场中形成的四个不同牙齿类型组成的复杂单元,其中每个场中的牙齿具有方向性并在不同时间萌出,反映了发育的时空控制。即使在一个有牙齿畸形的患者中已经确定了单个基因突变或一个主要环境损伤,对表型的详细研究通常会揭示出同一个家庭中受影响个体之间、同一个个体的牙列之间甚至同一个牙列中的不同牙齿之间的差异。相同的或密切相似的表型,无论是牙齿数量还是结构的异常,可能是由不同的病因引起的:不仅是不同基因的突变,环境因素也可能导致相似的表型。与牙发生过程中许多活跃的发育调节基因的作用相关,在不同的组织中,突变可以导致牙齿畸形是其一部分的综合征。发育调节基因的拮抗平衡被打破,作为激活剂或抑制剂,可导致牙齿畸形。个体牙胚的发育有关键阶段,如果进展失败,牙胚将不再进一步发育或发生细胞凋亡。在启动和形态发生的连续过程中随时间重复的信号模式反映在数量、大小和形态异常的临床关联和提出的模型中。未来研究的第一步是将遗传研究与表型的准确记录和测量相结合。它们还需要整理每个层次的发现,并利用现在可能对人类和鼠类表型的精确定义。
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