Cell death (labeled in red) within the neural crest cell progenitor population results in a reduced population of neural crest cells (labeled in green) in a polr1d mutant zebrafish embryo.
Photo Credit: Courtesy of Trainor Lab.

Scientists at the Stowers Institute for Medical Research have reported a detailed description of how function-impairing mutations in polr1c and polr1d genes cause Treacher Collins syndrome (TCS), a rare congenital craniofacial development disorder that affects an estimated 1 in 50,000 live births.

Collectively the results of the study, published in the current issue of PLoS Genetics, reveal that a unifying cellular and biochemical mechanism underlies the etiology and pathogenesis of TCS and its possible prevention, irrespective of the causative gene mutation. Read More.

Published by Stowers Institute For Medical Research July 26, 2016