Newly discovered insights into how human limbs are formed are being revealed by scientists. An intricate cellular landscape has been created of the developing human limb that uncovers the inner workings of how human fingers and toes develop.
The investigational collaboration between the Wellcome Sanger Institute, Sun Yat-sen University, and EMBL’s European Bioinformatics Institute applied the most recent single-cell and spatial technologies to create an atlas mapping the cellular layout of the early human limb, pinpointing the exact location of cells. This is part of the international Human Cell Atlas initiative aiming to map and understand every cell type in the human body.
Published in the journal Nature, this atlas is an openly available resource providing detailed insight into the intricate processes that govern the development of limbs during their early stages. It also exposes new connections linking developmental cells and certain congenital limb syndromes, such as short fingers and extra digits, while these findings provide a comprehensive characterization of limb development in humans and suggest critical insight that could impact the diagnosis and treatment of such syndromes.
The researchers have demonstrated that certain gene patterns can disrupt the formation of hands and feet, elucidating certain genes associated with specific limb syndromes such as short fingers and extra fingers or toes. This study provides a deeper understanding of how intricately functions and processes are responsible for the formation of limbs in humans.
“We couldn’t assume the relevance of mouse models for human development. What we reveal is a highly complex and precisely regulated process. It is like watching a sculptor at work, chiseling away at a block of marble to reveal a masterpiece. In this case, nature is the sculptor, and the result is the incredible complexity of our fingers and toes,” said Professor Hongbo Zhang, senior author of the study from Sun Yat-sen University, Guangzhou. This highlights the level of complexity that nature has in creating our fingers and toes.
Dr. Sarah Teichmann, the senior author of the study from the Wellcome Sanger Institute, provided critical insights into the work and how it is deepening the understanding of healthy human development: “For the first time, we have been able to capture the remarkable process of limb development down to single cell resolution in space and time. Our work in the Human Cell Atlas is deepening our understanding of how anatomically complex structures form, helping us uncover the genetic and cellular processes behind healthy human development, with many implications for research and healthcare.”
This study provides an in-depth characterization of the limb development in humans, offering critical insights that could impact the diagnosis and treatment of congenital limb syndromes and giving clear indications that aspects of limb development are shared between humans and mice, advancing our understanding of the complex process of limb formation.