December 14, 2017

Genome-Wide Association Mapping in Dogs Enables Identification of the Homeobox Gene, NKX2-8, as a Genetic Component of Neural Tube Defects in Humans

Neural Tube Defects (NTDs) are conditions used to describe a broad range of neurological diseases. NTDs are diseases typically associated with issues in the development of the brain and spinal cord. The reason these researchers started conducting research concerning NTDs is because they occur in the Weimaraner dog breed as well as humans. The study conducted included a total of a hundred dogs, 96 of which were healthy, while the rest were affected by the disease. The researchers sequenced the NKX2-8 gene of the Weimaraners and observed that there was a frameshift, a mutation, in the second exon of the gene, resulting in the NTDs. The disease often times will lead to high mortality rates in Weimaraner births, so further research conducted would not only benefit humans, but the Weimaraners as well.

Research was conducted on both the Weimairaners and humans. Blood samples of the dogs and humans were collected regardless of age or sex. DNA was then analyzed from the blood using a generic blood sampling kit. To see the DNA in larger quantities, the researchers used Polymerase Chain Reaction(PCR) to increase the amount of DNA and see it more effectively. Similar methods were used to examine the human DNA. The study, which was conducted in the United States of America, found dogs to participate through advertising in the Weimaraner Club of America magazine and website, as well as talking with owners interested in the study. Ultimately, the authors of the study concluded that continuing to research this topic would benefit both humans and Weimaraners by finding solutions to the issues caused by NTDs.

Noa Safra,  Alexander G. Bassuk,  Polly J. Ferguson,  Miriam Aguilar,  Rochelle L. Coulson,  Nicholas Thomas,  Peta L. Hitchens,  Peter J. Dickinson,  Karen M. Vernau, Zena T. Wolf,  and Danika L. Bannasch. “Genome-Wide Association Mapping in Dogs Enables Identification of the Homeobox Gene, NKX2-8, as a Genetic Component of Neural Tube Defects in Humans.” PLOS Genetics: 18 July 2013. Web.

Original Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3715436/

Summary by Ford Young