2 G3, 2021, 11(2), jkaa048 DOI: 10.1093/g3journal/jkaa048 Advance Access Publication Date: 4 January 2021 Investigation The crest phenotype in domestic chicken is caused by a 197 bp duplication in the intron of HOXC10 Jingyi Li,1,2 Mi-Ok Lee,1 Brian W. Davis,1 Ping Wu,3 Shu-Man Hsieh Li,3,4,5 Cheng-Ming Chuong,3 and Leif Andersson 1,6,7,* 1Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843, USA 2Key Laboratory of Agricultural Animal Genetics, Breeding and Reproduction of Ministry of Education, College of Animal Science and Technology, Huazhong Agricultural University, 430070 Wuhan, Hubei, China 3Department of Pathology, University of Southern California, Los Angeles, CA 90033, USA 4Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, Los Angeles, CA 90033, USA 5Department of Biochemistry, National Defense Medical Center, Taipei 114, Taiwan 6Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, SE-751 23 Uppsala, Sweden 7Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, SE-750 07 Uppsala, Sweden *Corresponding author: IMBIM, Uppsala University, Box 582, SE-75123 Uppsala, Sweden.
[email protected] Abstract The Crest mutation in chicken shows incomplete dominance and causes a spectacular phenotype in which the small feathers normally pre- sent on the head are replaced by much larger feathers normally present only in dorsal skin. Using whole-genome sequencing, we show that the crest phenotype is caused by a 197 bp duplication of an evolutionarily conserved sequence located in the intron of HOXC10 on chromosome 33.