Location: Endemic Poultry Viral Diseases ResearchTitle: Narrowing the wingless-2 mutation to a 227 Kb candidate region on chicken chromosome 12
|WEBB, ANDREW - University Of California, Davis|
|YOUNGWORTH, INGRID - University Of California, Davis|
|KAYA, MUHAMMET - Eskisehir Osmangazi University|
|GITTER, CYNTHIA - University Of California, Davis|
|O’HARE, ELIZABETH - University Of California, Davis|
|MAY, BERNIE - University Of California, Davis|
|DELANY, MARY - University Of California, Davis|
Submitted to: Poultry Science
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 2/27/2018
Publication Date: 5/17/2018
Publication URL: http://handle.nal.usda.gov/10113/6731399
Citation: Webb, A.E., Youngworth, I.A., Kaya, M., Gitter, C.L., O’Hare, E.A., May, B.P., Cheng, H.H., Delany, M.E. 2018. Narrowing the wingless-2 mutation to a 227 Kb candidate region on chicken chromosome 12. Poultry Science. 97(6):1872–1880. https://dx.doi.org/10.3382/ps/pey073.
Interpretive Summary: Identifying the underlying genetic (DNA) variants responsible for phenotypic traits is a major goal in biology, including poultry. In this submission, utilizing the chicken genome assembly, the mutation that results in abnormal wing development in chickens was map to a small region containing three candidate genes. This result shows the utility of the genome assembly and its use. The methods and tools are of interest to biologist and helps to annotate the chicken genome.
Technical Abstract: Wingless-2 (wg-2) is an autosomal recessive mutation in chicken that results in an embryonic lethal condition. Affected individuals exhibit a multisystem syndrome characterized by absent wings, truncated legs, and craniofacial, kidney, and feather malformations. Previously, work focused on phenotype description, establishing the autosomal recessive pattern of Mendelian inheritance and placing the mutation on an inbred genetic background to create the congenic line UCD Wingless-2.331. The research described in this paper employed the complementary tools of breeding, genetics, and genomics to map the chromosomal location of the mutation and successively narrow the size of the region for analysis of the causative element. Specifically, the wg-2 mutation was initially mapped to a 7 Mb region of chromosome 12 using an Illumina 3 K SNP array. Subsequent SNP genotyping and exon sequencing combined with analysis from improved genome assemblies narrowed the region of interest to a maximum size of 227 kb. Within this region, 3 validated and 3 predicted candidate genes are found, and these are described. The wg-2 mutation is a valuable resource to contribute to an improved understanding of the developmental pathways involved in chicken and avian limb development as well as serving as a model for human development, as the resulting syndrome shares features with human congenital disorders.