Identification of Two Types of Growth Hormone Receptor Mutations in Two Strains of Sex-linked Dwarf Chickens

Kenichi Tahara, Akira Tsukada, Takanobu Hanai, Kenta Okumura, Kikumi Yamada, Atsushi Murai, Rikiya Yamamoto, Makoto Maeno, Noboru Saito, Kiyoshi Shimada
2009 The Journal of Poultry Science  
National livestock breeding center Okazaki station and Hyogo Station Sex-linked dwarf (SLD) of White Leghorn (WL; S MA line, Okazaki station, Japan) and White Plymouth Rock (WPR; line, Hyogo station, Japan) strains were established from the MA line (WL) and line (WPR) of a normal growing line, respectively. However, the responsible genes in the two lines of SLD chicken have not been identified. In this study, we characterized the phenotypes and identified the responsible genes in the SLD
more » ... s of these two strains. SLD chickens of both strains showed low body weight, short tarsometatarsus length, and high blood growth hormone (GH) level compared with the normal growing lines. From these particular results, it was indicated that the SLD chickens might possess a defect in the growth hormone receptor (GHR). We identified two types of mutations in the GHR gene in each SLD chicken by Northern blot and polymerase chain reaction analyses. The S MA line had a single base mutation in the splice donor site of the exon /intron on the GHR gene, whereas the line lacked a large part of exon of the GHR gene, which contained highly conserved amino acids at the end of the coding region and -UTR. Furthermore, it was revealed that growth retardation was caused by reduction in food intake of the SLD chickens. These two genetically distinguishable lines of dwarf chickens would serve as an e ective tool for analyzing novel GH function and GHR signal transduction in chickens. : genotyping, growth hormone, growth hormone receptor, growth hormone resistance, sex-linked dwarf chicken levels of insulin-like growth factor (IGF)-I despite high con-Plymouth Rock (WPR; line, National Livestock Breeding Center, Hyogo station, Japan) strains maintained in Japan were established from the MA line (WL) and
doi:10.2141/jpsa.46.249 fatcat:m43oq2rzw5hldnwwpfuwg5hvwu