Narrowing the Genomic Location of Choanal Atresia in Alpacas

Principal investigator:

Belinda Appleton, PhD
Deaken University
Waurn Ponds, Australia
9/1/12–2/28/15
$25,000

The study seeks to improve the health and welfare of the global alpaca population by continuing the search for the causative mutation for choanal atresia, a detrimental and relatively common congenital defect. The data obtained to date reveals a link with vitamin A and the genetic pathways that regulate craniofacial development in the embryo. Our SNP array data and sequencing shows a candidate genomic region that likely contains the causative mutation. We will select more SNPs throughout the candidate region in order to fine map the region and find the causative mutation. We will also continue our studies on vitamin levels in alpaca and their effect on breeding outcomes. Ideally, this research will provide the opportunity to develop genetic tests to detect individuals carrying the detrimental trait. The ability to test breeding stock will have immediate and wide reaching impact on breeding practices. Our already established intimate industry involvement will stimulate adoption and communication of the results and future collaboration into mapping further genetic traits. The information obtained will also be used for valuable comparative genomics studies across many species including other domesticated livestock and humans that also exhibit similar detrimental phenotypes.