title: Dinucleotide polymorphisms present in the 5'-flanking region of the human H2 relaxin gene, but not in the corresponding region of the H1 gene.
abstract: Relaxin is a peptide hormone that, in humans, is encoded by two genes referred to as H1 and H2, both located into chromosome 9p24.1. We have searched for polymorphisms in the 5'-flanking sequence of these genes. Both genes possess a CT repeat followed by a GT repeat. CT and GT repeats of the H2 gene are longer than those of the H1 gene. Moreover, CT and GT repeats of the H2 gene, but not those of the H1 gene, show length polymorphism. Protein-DNA interaction experiments suggest that difference between the H1 and H2 GT repeats may have arisen because the requirements of the transcriptional regulation of the two genes are different.
authors.affiliation: Dipartimento di Scienze e Tecnologie Biomediche, Università di Udine, Italy.
authors.forename: A V
authors.initials: AV
authors.lastname: D'Elia
authors.forename: L
authors.initials: L
authors.lastname: Pellizzari
authors.forename: C
authors.initials: C
authors.lastname: Puppin
authors.forename: L
authors.initials: L
authors.lastname: Driul
authors.forename: D
authors.initials: D
authors.lastname: Marchesoni
authors.forename: G
authors.initials: G
authors.lastname: Damante
mesh_terms: D024506:5' Flanking Region / Q000235:genetics*; D000199:Actins / Q000235:genetics; D015342:DNA Probes; D018900:Dinucleotide Repeats / Q000235:genetics*; D005786:Gene Expression Regulation; D006801:Humans; D018895:Microsatellite Repeats; D011110:Polymorphism, Genetic / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D012065:Relaxin / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D000199:Actins; D015342:DNA Probes; C095067:RLN1 protein, human; C095068:RLN2 protein, human; D012065:Relaxin