title: [Fine structure, expression and polymorphism of the human growth hormone receptor gene].
abstract: The human growth hormone receptor gene (GHR) is an example of complex transcription units. The gene has a very long 5'-regulatory region and contains multiple alternative 5'-untranslated exons that are spliced to the protein-coding exons. Its transcription is driven by several promoters that reside far upstream of the coding region. The complete nucleotide sequence of the human GHR gene is known. This paper summarizes the data on the human GHR gene structure analysis and mapping of alternative 5'-untranslated exons. The data of the promoter activity assay in the reporter gene transient expression system, as well as the results of studying the potential regulatory role of the short upstream open reading frame located in one of the 5'-untranslated exons are presented. The search for repeated elements in the human GHR gene was done, and several polymorphic markers that can be used in studies of GHR association with various diseases were characterized.
authors.affiliation: Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991 Russia.
authors.forename: I V
authors.initials: IV
authors.lastname: Orlovskiĭ
authors.forename: P S
authors.initials: PS
authors.lastname: Sverdlova
authors.forename: P M
authors.initials: PM
authors.lastname: Rubtsov
mesh_terms: D020121:5' Untranslated Regions; D005091:Exons; D005786:Gene Expression Regulation; D006801:Humans; D016366:Open Reading Frames; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D011986:Receptors, Somatotropin / Q000235:genetics*
chemical_list: D020121:5' Untranslated Regions; D011986:Receptors, Somatotropin