title: Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment.
abstract: We have isolated and sequenced the gene encoding human tyrosinase, the key enzyme in pigment biosynthesis. The human tyrosinase gene contains five exons and spans more than 50 kb of DNA on chromosome segment 11q14----q21. We have also isolated a second segment in the human genome that is closely related to tyrosinase. The tyrosinase-related segment, located on 11p11.2----cen, contains only exons 4 and 5 plus adjacent noncoding regions. This segment is present in all human ethnic groups analyzed, and the noncoding nucleotide sequences shared by the 11q tyrosinase gene and the 11p tyrosinase-related segment differ by only 2.6%. This suggests that this segment of the tyrosinase gene was duplicated approximately 24 million years ago.
authors.affiliation: Department of Medical Genetics, University of Wisconsin, Madison 53706.
authors.forename: L B
authors.initials: LB
authors.lastname: Giebel
authors.forename: K M
authors.initials: KM
authors.lastname: Strunk
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D005075:Biological Evolution; D015139:Blotting, Southern; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D015342:DNA Probes; D005091:Exons; D015698:Genomic Library; D006801:Humans; D006822:Hybrid Cells; D007438:Introns; D008562:Membrane Glycoproteins; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics*; D005810:Multigene Family; D010088:Oxidoreductases; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D015183:Restriction Mapping; D014407:Tumor Cells, Cultured
chemical_list: D015342:DNA Probes; D008562:Membrane Glycoproteins; D011506:Proteins; D010088:Oxidoreductases; C489799:TYRP1 protein, human; C064056:tyrosinase-related protein-1; D014442:Monophenol Monooxygenase