Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)

Human Mutation

Volumn 10, Issue 2, 1997, Pages 171-174

  Spritz, Richard A ^a,b   Oh, Jangsuk ^a   Fukai, Kazuyoshi ^a   Holmes, Stuart A ^a   Ho, Lingling ^a   Chitayat, David ^c   France, Thomas D ^a   Musarella, Maria A ^c   Orlow, Seth J ^d   Schnur, Rhonda E ^e   Weleher, Richard G ^f   Levin, Alex V ^c  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MONOPHENOL MONOOXYGENASE;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HUMAN; INFANT; MALE; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL;

ADULT; ALBINISM, OCULOCUTANEOUS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; INFANT; MALE; MONOPHENOL MONOOXYGENASE; MUTATION;

EID: 16944363238     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:2<171::AID-HUMU11>3.0.CO;2-X     Document Type: Article

References (10)

1. Lee S-T, Nicholls RD, Jong MTC, Fukai K, Spritz RA (1995) Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26:354-363.
2. King RA, Mentink MM, Oetting WS (1991) Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. Mol Biol Med 8:19-29.
3. King RA, Hearing VJ, Creel DJ, Getting WS (1995) Albinism. In: Scriver CR, Beaudet AL, Sly WS, Valle DV (eds): The meta-bolic basis of inherited disease, 7th ed. New York: McGraw-Hill, pp 4353-4392.
4. Oetting WS, King RA (1994) Molecular basis of oculocutaneous albinism. J Invest Dermatol Suppl 131S-136S.
5. Spritz RA, Holmes SA, Ramesar R, Greenberg J, Curtis D, Beighton P (1992) Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. Am J Hum Genet 51:1058-1065.
6. Spritz RA (1994) Molecular genetics of oculocutaneous albinism. Hum Molec Genet 3:1469-1475.
7. Spritz RA, Hearing VJ Jr. (1994) Genetic disorders of pigmentation. Adv Hum Genet 22:1-45.
8. Tripathi RK, Giebel LB, Strunk KM, Spritz RA (1991) A polymorphism of the human tyrosinase gene that is associated with temperature-sensitive enzymatic activity. Gene Expression 1:103-110.
9. Tripathi RK, Strunk KM, Giebel LB, Weleher RG, Spritz RA (1992) Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. Am J Med Genet 43:865-871.
10. Tripathi RK, Bundey S, Musarella MA, Droetto S, Strunk KM, Holmes SA, Spritz RA (1993) Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). Am J Hum Genet 53:1173-1179.