Expression of aberrantly spliced growth hormone receptor mRNA in the sex-linked dwarf chicken, Gifu 20.

The structure and expression of the growth hormone receptor (GHR) gene have been studied in a sex-linked dwarf (SLD) chicken strain, Gifu 20. No gross structural change in the receptor gene was observed by Southern blot analysis, however, a transcript of 5.5 killobases (kb), which was approximately 1 kb larger than the usual chicken full length-GHR mRNA was detected in the dwarf chicken by Northern blot analysis. GHR cDNA was obtained from dwarf chicken liver RNA by reverse transcription-polymerase chain reaction, and nucleotide sequence analysis revealed that it contained an intron sequence of the GHR gene. The unspliced intron showed a single point mutation at the donor site from GT to GC, and an aberrant stop codon was generated in the extracellular domain-coding region. Thus, the mutation resulting in an inappropriate splicing of the GHR gene transcript is considered to be the cause of this dwarf chicken.