Characterization of the genomic structure, promoter region, and a tetranucleotide repeat polymorphism of the human neurotensin receptor gene.

In the present study, we have cloned the human neurotensin receptor (NTR) gene, determined its structure, demonstrated that its promoter is functional in transfection experiments, and identified the start site of transcription and a tetranucleotide repeat polymorphism that locates at less than 3 kilobase pairs from the gene. The gene contains three introns, all in the coding regions. Several differences in genomic clones and previously characterized cDNA sequences are reconciled. The 5' regulatory region, which is rich in presumptive transcription factors, can drive luciferase expression in transfected CHO-K1 cells. Stepwise 5' deletions identify a positive modulator between -782 and -1309 and a negative modulator between -1309 and -1563. Southern blot analyses demonstrate a single copy gene for the NTR. The tetranucleotide repeat polymorphism is highly informative with at least 23 alleles and might serve as a very useful marker for genetic study of the relationship between the NTR and neuropsychiatric disorders.