title: Expression of aberrantly spliced growth hormone receptor mRNA in the sex-linked dwarf chicken, Gifu 20.
abstract: 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.
authors: Department of Biochemistry, Mie University, Japan.
authors: M
authors: M
authors: Tanaka
authors: Y
authors: Y
authors: Hayashida
authors: M
authors: M
authors: Wakita
authors: S
authors: S
authors: Hoshino
authors: K
authors: K
authors: Nakashima
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D015139:Blotting, Southern; D002645:Chickens; D017931:DNA Primers; D015342:DNA Probes; D004392:Dwarfism / Q000235:genetics / Q000378:metabolism / Q000662:veterinary*; D015870:Gene Expression; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011201:Poultry Diseases; D012333:RNA, Messenger / Q000096:biosynthesis*; D011986:Receptors, Somatotropin / Q000096:biosynthesis* / Q000235:genetics; D012016:Reference Values; D015183:Restriction Mapping; D012689:Sequence Homology, Nucleic Acid; D012727:Sex Characteristics; D013737:Testis / Q000378:metabolism*; D014158:Transcription, Genetic
chemical_list: D017931:DNA Primers; D015342:DNA Probes; D012333:RNA, Messenger; D011986:Receptors, Somatotropin