An international team has made great advances in understanding the genetics of a painful skull abnormality called Chiari-like malformation. The inheritance of this disorder is complex and an expert genetics group headed by Dr Zoha Kibar at Sainte Justine Hospital Research Center and University of Montreal used an quantitative trait locus approach that linked DNA molecular markers with magnetic resonance imaging information gleaned by Fitzpatrick Referrals and University of Surrey researcher Penny Knowler and neurologist Dr Clare Rusbridge (see http://www.fitzpatrickreferrals.co.uk/news/dr-clare-rusbridge-sheds-new-light-chiari-malformation). The team identified two DNA regions that were strongly associated with Chiari-like malformation in the dog. One region contains an excellent candidate gene called Sall-1. Sall-1 is involved in development of the skull and has been associated with a disease linked to Chiari malformation in humans. The team is very excited by this finding because not only may it help dogs and breeders but it might help understand the condition in humans.
The research was published in the journal PLOS ONE: http://dx.plos.org/10.1371/journal.pone.0089816
You-tube link – explaining the head changes here http://youtu.be/O7lUTTKE0ro
For more information see http://clarerusbridge-news.blogspot.co.uk/2014/04/candidate-gene-for-chiari-malformation.html17 th April 2014 |