简介吉莉安-莫里斯-凯教授 DSc.

IF 1.8 3区 医学 Q2 ANATOMY & MORPHOLOGY
Sachiko Iseki, Andrew O. M. Wilkie
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引用次数: 0

摘要

在第三届颅骨发育不良进展:从基础科学到临床实践研讨会上,我们很高兴邀请到发育解剖学名誉教授吉莉安-莫里斯-凯作为演讲嘉宾。吉莉安是一位杰出的发育胚胎学家,她主要在剑桥大学师从大卫-伍拉姆(David Woollam)攻读博士学位,随后在牛津大学工作,从 1976 年起一直在最初的人体解剖学系(现为 "DPAG")工作,直到 2004 年正式退休。20 世纪 80 年代末,脊椎动物生物学家开始询问在果蝇中发现的基因与他们所选择的模式生物的结构发育有什么关系,但可以说,颅缝并不在他们的研究范围之内。然而,正如吉莉安所叙述的(Morriss-Kay, 2024),1993 年和 1994 年间,颅骨发育不全症的第一个疾病基因(MSX2、FGFR1 和 FGFR2)相继被发现,这立即表明颅缝终究还是相当有趣的,因为新发现的基因都已经在发育生物学家的词典中确立了地位。吉莉安在颅面解剖学方面来之不易的经验,使她能够完美地配合人类遗传学家的工作。我们中的一位(AOMW)回忆起 1992 年 9 月 29 日第一次见面时的情景仍心有余悸,当时他把小鼠组织横截面上的面部突起和支弓搞混了,而吉利恩是不会允许这种事情发生的!这次经历更加坚定了我们合作开展这项新事业的决心。在阿博特综合征首次发现 FGFR2 基因突变的两个月后(1994 年 9 月 27 日),我们中的另一位(SI)以人类前沿科学项目奖学金的身份来到了吉莉安的实验室。除了在颅骨发育不良的分子病理学方面的重要工作外,吉莉安还在本世纪有关头骨的最令人惊讶的发现中发挥了关键作用--额骨和顶骨在骨学上看起来如此相似,实际上却有着完全不同的发育起源。由于所有这些工作,以及她对《解剖学杂志》的奉献(远远超出了 "退休 "的时间)和在解剖学会的领导作用,吉莉安当之无愧地在 2021 年获得了学会最重要的奖项--奖和金质奖章。吉莉安的文章标题以 "未来 "一词结尾。她的演讲中提到的视黄醇(维生素 A)和视黄酸之间的生物合成途径中的一种酶(DHRS3)的部分功能缺失变体,正是吉莉安 50 多年前最初研究的系统,最近被确定为颅骨发育不良的病因之一(手稿正在审阅中)。事实上,我们都期待着未来会有更多的惊喜。作者声明没有利益冲突。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Introduction: Professor Gillian Morriss-Kay DSc

For the symposium 3rd Advances in Craniosynostosis: Basic Science to Clinical Practice, we were delighted to introduce Emeritus Professor of Developmental Anatomy Gillian Morriss-Kay as the guest speaker. Gillian pursued a distinguished career as a developmental embryologist, principally at Cambridge, where she undertook her PhD research with David Woollam, and subsequently in Oxford, where she worked in what was originally the Department of Human Anatomy (now ‘DPAG’) from 1976 until well after her official retirement in 2004.

We were both fortunate to meet and work with Gillian at a crucial time for the study of craniosynostosis. During the late 1980s, vertebrate biologists started to ask what the relevance of genes identified in Drosophila might have for the development of structures in their chosen model organism, but it is fair to say that the cranial sutures were not high on their shopping list. However, as Gillian recounts (Morriss-Kay, 2024), the first disease gene identifications in craniosynostosis (MSX2, FGFR1 and FGFR2), which came in a flurry during 1993 and 1994, immediately showed that cranial sutures must be rather interesting after all, because the newly implicated genes were all already well established in the developmental biologist's lexicon. Gillian's hard-won experience in craniofacial anatomy placed her in a perfect position to complement the efforts of human geneticists. One of us (AOMW) still winces at the memory of our first meeting on 29 September 1992, when he confused the facial prominences and branchial arches on a mouse tissue cross-section, something Gillian was not going to allow to pass without comment! This experience only reinforced the need to collaborate on this new venture. By another fortunate accident of timing, the other of us (SI) arrived at Gillian's lab on a Human Frontier Science Program Fellowship just 2 months after the first FGFR2 mutation was identified in Apert syndrome (on 27 September 1994). Gillian describes what happened next.

In addition to her important work on the molecular pathology of craniosynostosis, Gillian played a key role in arguably the most surprising discovery this century about the skull—that the frontal and parietal bones, so similar looking osteologically, actually have entirely distinct developmental origins. For all these works, as well as her dedication to the Journal of Anatomy (extending well beyond ‘retirement’) and leadership role in the Anatomical Society, Gillian very deservedly was recognised with the Society's foremost award, the Prize and Gold Medal, in 2021.

Gillian's article title finishes with the word ‘future’. As an illustration of the wonderful way in which, if you keeping chipping away at your field of science, then new connections often continue to be made, partial loss-of-function variants in one of the enzymes (DHRS3) in the biosynthetic pathway between retinol (vitamin A) and retinoic acid, the system that Gillian originally worked on over 50 years ago and featured in her talk, were recently identified as a cause of craniosynostosis (manuscript under review). Indeed, we all look forward to seeing what further surprises the future may hold.

The authors declare no conflict of interest.

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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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