Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy

• Main Authors: G. Urkasemsin, M. Pongpanich, L. Sariya, A. Kongcharoen, R. Buddhirongawatr, S. Rungarunlert, J. N. Ferreira, W. Chetruengchai, C. Phokaew, C. Srichomthong, V. Shotelersuk
• Other Authors: Chulalongkorn University
• Format: Article
• Published: 2022
• Subjects: Agricultural and Biological Sciences; Biochemistry, Genetics and Molecular Biology
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/75578
• Institution: Mahidol University

Progressive retinal atrophy (PRA), common autosomal recessive disorder affecting several dog breeds including Shih Tzu, is characterized by degeneration of photoreceptors leading to blindness. To identify PRA genetic variants, three affected and 15 unaffected Shih Tzu and 20 non-Shih Tzu were recrui...