COMPLETE SEQUENCE AND POLYMORPHISM STUDY OF THE HUMAN TYRP1 GENE ENCODING TYROSINASE-RELATED PROTEIN-1

Authors
BOX NF WYETH JR MAYNE CJ OGORMAN LE MARTIN NG STURM RA
Citation
Nf. Box et al., COMPLETE SEQUENCE AND POLYMORPHISM STUDY OF THE HUMAN TYRP1 GENE ENCODING TYROSINASE-RELATED PROTEIN-1, Mammalian genome, 9(1), 1998, pp. 50-53
Citations number
33
Categorie Soggetti
Biology,"Genetics & Heredity","Biothechnology & Applied Migrobiology
Journal title
Mammalian genome → ACNP
ISSN journal
09388990
Volume
9
Issue
1
Year of publication
1998
Pages
50 - 53
Database
ISI
SICI code
0938-8990(1998)9:1<50:CSAPSO>2.0.ZU;2-4
Abstract
The complete 24,667 nucleotide sequence spanning the human TYRP1 gene has been determined from the inserts of two overlapping lambda clones. A LINE-1 repeat element is immediately adjacent to and may demarcate the immediate 5' promoter region of the gene. A search for polymorphis m within the seven TYRP1 coding exons has been performed by an RNase m ismatch detection procedure. Analysis of the TYRP1 gene in 100 Caucasi an individuals of varying hair color has found no amino acid sequence variation nor revealed any hemizygous mutant allele in the hypopigment ed phenotype of two 9p(-) syndrome patients.