变色蜥蜴的类人畸形:类似变色龙形态的“有希望的怪物”的潜在案例。

IF 1.9 3区 医学 Q2 ANATOMY & MORPHOLOGY
Paweł Kaczmarek, Julita Jakubiec, Weronika Rupik
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引用次数: 0

摘要

脊椎动物表现出显著的形态多样性,头部具有异常复杂的解剖结构,这是由于对摄食生态、大脑大小和感觉器官特化的适应而形成的。面部突出部位的适当融合以及颅骨和大脑的协调生长对包括人类在内的脊椎动物的正常颅面发育至关重要。这些过程的中断,无论是由于基因突变还是外部因素,都可能导致颅面畸形。在这项研究中,我们检查了两个棕色鬣蜥的病理胚胎,Anolis sagrei(鬣蜥:鬣蜥科),表现出明显的颅面异常,包括头短畸形,下颌前突,双侧腭裂和眼缺陷。基于相似发育阶段的畸形和正常胚胎的组织学序列切片的比较3D重建显示颅缝闭合,某些颅内元素缺失,颅骨形状异常和不对称。此外,还发现了广泛的颅后畸形,包括并指,手指缺失或缩短,以及尾巴异常。据我们所知,这是第一例非实验诱导的颅面畸形和肢体并指的病例,发生在有鳞类和非鸟类爬行动物的同一个体中。在两个畸形胚胎中都观察到这种罕见的组合。鉴于与人类颅面疾病,特别是Apert综合征在形态学上的惊人相似,我们假设哺乳动物和蜥脚类动物之间存在一种共同的遗传机制,这种机制可以追溯到3.2亿年前。然而,没有分子数据,这仍然是推测性的。尽管如此,越来越多的证据表明,非鸟类爬行动物,特别是有鳞片的爬行动物,可能是研究人类颅面疾病的有价值的模型。虽然这里观察到的畸形的适应性意义仍然不确定,但这些病例可能代表了“有希望的怪物”的例子,为形成独特的脊椎动物形态的进化过程提供了有价值的见解,例如变色龙。值得注意的是,在畸形的变色龙胚胎中观察到的一些特征——包括眼睑融合、上颌缩短、并指和某些骨骼特征——似乎反映了让人联想到奇特的变色龙表型的特征。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Human-like malformations in anole lizards: Potential cases of "hopeful monsters" resembling chameleon morphology.

Vertebrates exhibit remarkable morphological diversity, with the head representing an exceptionally complex anatomical structure shaped by adaptations to feeding ecology, brain size, and sensory organ specialization. Proper fusion of facial prominences and the coordinated growth of the skull and brain are essential for normal craniofacial development in vertebrates, including humans. Disruptions in these processes, whether due to gene mutations or external factors, can result in craniofacial malformations. In this study, we examined two pathological embryos of the brown anole, Anolis sagrei (Iguania: Anolidae), exhibiting notable craniofacial anomalies, including brachycephaly, mandibular prognathism, bilateral palatal clefts, and ocular defects. Comparative 3D reconstructions based on histological serial sections of malformed and normal embryos of similar developmental stages revealed instances of craniosynostosis, the absence of certain endocranial elements, skull shape abnormalities, and asymmetries. Furthermore, a wide range of postcranial anomalies was identified, including syndactyly, missing or shortened digits, and tail abnormalities. To the best of our knowledge, these are the first documented cases of non-experimentally induced craniofacial malformations and limb syndactyly occurring within the same individuals in squamates and non-avian reptiles in general. This rare combination was observed in both malformed embryos. Given the striking morphological resemblance to human craniofacial disorders, particularly Apert syndrome, we hypothesize the involvement of a shared genetic mechanism in mammals and sauropsids that may trace back over 320 million years. However, without molecular data, this remains speculative. Nonetheless, growing evidence suggests that non-avian reptiles, particularly squamates, could be valuable models for studying human craniofacial disorders. While the adaptive significance of the malformations observed here remains uncertain, these cases may represent examples of "hopeful monsters," offering valuable insights into the evolutionary processes that have shaped the distinctive vertebrate morphology of clades such as chameleons. Notably, several traits observed in the malformed anole embryos-including eyelid fusion, upper jaw shortening, syndactyly, and certain skeletal characteristics-appear to reflect features reminiscent of the peculiar chameleon phenotype.

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来源期刊
Journal of Anatomy
Journal of Anatomy 医学-解剖学与形态学
CiteScore
4.80
自引率
8.30%
发文量
183
审稿时长
4-8 weeks
期刊介绍: Journal of Anatomy is an international peer-reviewed journal sponsored by the Anatomical Society. The journal publishes original papers, invited review articles and book reviews. Its main focus is to understand anatomy through an analysis of structure, function, development and evolution. Priority will be given to studies of that clearly articulate their relevance to the anatomical community. Focal areas include: experimental studies, contributions based on molecular and cell biology and on the application of modern imaging techniques and papers with novel methods or synthetic perspective on an anatomical system. Studies that are essentially descriptive anatomy are appropriate only if they communicate clearly a broader functional or evolutionary significance. You must clearly state the broader implications of your work in the abstract. We particularly welcome submissions in the following areas: Cell biology and tissue architecture Comparative functional morphology Developmental biology Evolutionary developmental biology Evolutionary morphology Functional human anatomy Integrative vertebrate paleontology Methodological innovations in anatomical research Musculoskeletal system Neuroanatomy and neurodegeneration Significant advances in anatomical education.
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