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 (N TR) 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 locate s at less than 3 kilobase pairs from the gene. The gene contains three introns, all in the coding regions, Several differences in genomic cl ones and previously characterized cDNA sequences are reconciled, The 5 ' regulatory region, which is rich in presumptive transcription factor s, can drive luciferase expression in transfected CHO-K1 cells, Stepwi se 5' deletions identify a positive modulator between -782 and -1309 a nd a negative modulator between -1309 and -1563. Southern blot analyse s demonstrate a single copy gene for the NTR, The tetranucleotide repe at polymorphism is highly informative with at least 23 alleles and mig ht serve as a very useful marker for genetic study of the relationship between the NTR and neuropsychiatric disorders.