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Identification and Characterization of a DNase Hypersensitive Region of the Human Tyrosinase Gene by James P. Fryer; William S. Oetting; Richard A. King is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Identification and Characterization of a DNase Hypersensitive Region of the Human Tyrosinase Gene about?

Mutations of the tyrosinase gene produce oculocutaneous albinism type 1 (OCA1). Most affected individuals are compound heterozygotes with different maternal and paternal mutations, but a substantial number of presumed tyrosinase alleles in these individuals have no identifiable mutation in the coding or proximal promoter region of the gene. This suggests that mutations in other regions of the gene, such as regulatory regions that are removed from the direct proximity of the coding sequence, may account for these currently unidentifiable mutations. The mouse tyrosinase gene has a distal enhancer or locus control region (LCR) that provides position‐independent stimulation of gene expression, and a homologous regulatory region (HR) of the human gene could be the site of some of these mutations. We report a region 9 kb upstream of the human tyrosinase transcriptional start site that may be involved in regulation of this gene. Analysis of this region shows DNase I hypersensitivity in a cell lineage‐specific pattern, a pattern indicative of regulatory regions of a gene. This region also has significant enhancer function when reporter vectors containing it are transfected into either huma

Who reads Identification and Characterization of a DNase Hypersensitive Region of the Human Tyrosinase Gene?

Author

James P. Fryer; William S. Oetting; Richard A. King

Publisher

John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley (ISSN 0893-5785)

Published

2003

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)