title: The human growth hormone locus: nucleotide sequence, biology, and evolution.
abstract: The human chromosomal growth hormone locus contained on cloned DNA and spanning approximately 66,500 bp was sequenced in its entirety to provide a framework for the analysis of its biology and evolution. This locus evolved by a series of duplications and contains in its present form five genes which display a remarkably high degree of sequence identity (approximately 95%) in all their domains. The DNA sequence of the locus reveals the presence of 48 middle repetitive sequence elements of the Alu type and one member of the KpnI family, all located in the intergenic regions. The expression of each gene was examined by screening pituitary and placental cDNA libraries by using gene-specific oligonucleotides. According to this analysis, the hGH-N gene is transcribed exclusively in the pituitary, whereas the other four genes (hCS-L, hCS-A, hGH-V, hCS-B) are expressed only in placental tissue, at levels characteristic for each gene. Particular DNA sequences found upstream of the individual promoter regions might account for the observed tissue specificity and different transcriptional activity of the genes. The hCS-L gene carries a G to A transition in a sequence used by the other four genes as an intronic 5' splice donor site. This mutation results in a different splicing pattern and, hence, in a novel sequence of the hCS-L gene mRNA and the deduced polypeptide.
authors.affiliation: Department of Molecular and Developmental Biology, Genentech, Inc., South San Francisco, California 94080.
authors.forename: E Y
authors.initials: EY
authors.lastname: Chen
authors.forename: Y C
authors.initials: YC
authors.lastname: Liao
authors.forename: D H
authors.initials: DH
authors.lastname: Smith
authors.forename: H A
authors.initials: HA
authors.lastname: Barrera-Saldaña
authors.forename: R E
authors.initials: RE
authors.lastname: Gelinas
authors.forename: P H
authors.initials: PH
authors.lastname: Seeburg
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D005075:Biological Evolution; D015815:Cell Adhesion Molecules; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D005786:Gene Expression Regulation; D005796:Genes; D013006:Growth Hormone / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins; D008969:Molecular Sequence Data; D005810:Multigene Family; D009928:Organ Specificity
chemical_list: D015815:Cell Adhesion Molecules; D008565:Membrane Proteins; C485519:TCAM1P protein, human; D013006:Growth Hormone