School of Natural Sciences, Bangor University, Bangor, UK.
J Anat. 2022 Apr;240(4):735-745. doi: 10.1111/joa.13580. Epub 2021 Nov 7.
A series of elegant embryo transfer experiments in the 1950s demonstrated that the uterine environment could alter vertebral patterning in inbred mouse strains. In the intervening decades, attention has tended to focus on the technical achievements involved and neglected the underlying biological question: how can genetically homogenous individuals have a heterogenous number of vertebrae? Here I revisit these experiments and, with the benefit of knowledge of the molecular-level processes of vertebral patterning gained over the intervening decades, suggest a novel hypothesis for homeotic transformation of the last lumbar vertebra to the adjacent sacral type through regulation of Hox genes by sex steroids. Hox genes are involved in both axial patterning and development of male and female reproductive systems and have been shown to be sensitive to sex steroids in vitro and in vivo. Regulation of these genes by sex steroids and resulting alterations to vertebral patterning may hint at a deep evolutionary link between the ribless lumbar region of mammals and the switch from egg-laying to embryo implantation. An appreciation of the impact of sex steroids on Hox genes may explain some puzzling aspects of human disease, and highlights the spine as a neglected target for in utero exposure to endocrine disruptors.
20 世纪 50 年代进行的一系列精心胚胎移植实验表明,子宫环境可以改变近交系小鼠的椎骨模式。在过去的几十年里,人们的注意力往往集中在相关的技术成就上,而忽略了一个基本的生物学问题:遗传上同质的个体怎么会有不同数量的椎骨?在这里,我重新审视了这些实验,并利用过去几十年在椎骨模式形成的分子水平过程方面的知识,提出了一个新的假说,即通过性激素对 Hox 基因的调控,将最后一个腰椎向相邻的荐骨类型发生同源转化。Hox 基因参与轴向模式形成和雄性和雌性生殖系统的发育,并且已经证明在体外和体内对性激素敏感。性激素对这些基因的调控以及由此导致的椎骨模式的改变,可能暗示着哺乳动物无肋骨的腰椎区域和从产卵到胚胎植入的转变之间存在着深刻的进化联系。对性激素对 Hox 基因的影响的认识,可以解释人类疾病的一些令人困惑的方面,并强调了脊柱作为受内分泌干扰物宫内暴露的一个被忽视的靶标。