UNIC study identifies key gene behind early embryonic cell development

A study co-authored by Annita Achilleos, Assistant Professor of Developmental Biology and Developmental Genetics at the Medical School, was recently published in the peer-reviewed scientific journal Nature Communications.

The study, titled ‘NR6A1 is essential for neural crest cell specification, formation and survival’ explores the formation of neural crest cells (NCC), a migratory progenitor cell population unique to vertebrate embryos that helps in the development of many organs and tissues, including parts of the face, nerves, and heart.

The study found that a gene called NR6A1 plays a crucial role in helping neural crest cells form, survive, and develop correctly in mammals. When NR6A1 doesn’t work, many neural crest cells fail to form or die, especially in the head and neck regions.

The researchers also uncovered the underlying mechanism behind this effect. Without NR6A1, cells stay stuck in a very early, ‘stem-cell-like’ state instead of becoming neural crest cells and gaining the ability to move. This shows that NR6A1 acts like a switch – turning off stem-cell programmes while turning on the genes needed for neural crest identity and movement.

Importantly, the study shows that neural crest cells in mammals start forming earlier than scientists previously believed, during a developmental stage known as gastrulation.

‘Disruptions in NCC development can result in congenital disorders (neurocristopathies). Yet, our understanding of the cellular mechanisms and signals that govern mammalian NCC formation remains poor. As part of this study, we discovered nuclear receptor superfamily 6 group member 1 (NR6A1/GCNF/RTR) as a novel, critical regulator of mammalian NCC specification, formation and survival’, commented Dr Achilleos.