Coexpression of wild-type tyrosinase enhances maturation of temperature-sensitive tyrosinase mutants

Journal of Investigative Dermatology

Volumn 119, Issue 2, 2002, Pages 481-488

  Halaban, Ruth ^a   Cheng, Elaine ^a   Hebert, Daniel N ^b  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MASSACHUSETTS   (United States)

Author keywords

Albinism; Endoplasmic reticulum; Glycosylation and temperature sensitive mutants; Protein folding; Quality control

Indexed keywords

DOPA; GLYCAN; GLYCOPROTEIN IB; MONOPHENOL MONOOXYGENASE; MUTANT PROTEIN; TYROSINE;

ALLELE; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; ENZYME SUBSTRATE; GENETIC TRANSFECTION; GLYCOSYLATION; GOLGI COMPLEX; HUMAN; HUMAN CELL; MELANOCYTE; MELANOGENESIS; MOUSE; MUTATION; NONHUMAN; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROCESSING; SKIN PIGMENTATION; TEMPERATURE SENSITIVITY; WILD TYPE;

EID: 0036038263     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2002.01824.x     Document Type: Article

References (40)

1. Cloned mouse melanocyte lines carrying the germline mutations albino and brown: Complementation in culture
2. A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature
3. Mutations at critical N-glycosylation sites reduce tyrosinase activity by altering folding and quality control
4. Immunophenotyping of melanomas for tyrosinase - Implications for vaccine development
5. The mouse pink-eyed dilution gene: Association with human Prader-Willi and Angelman syndromes
6. The crystal structure of catechol oxidase: New insight into the function of type-3 copper proteins
7. Tyrosinase and inhibition of proliferation of melanoma cells and fibroblasts
8. Regulation of tyrosinase in human melanocytes grown in culture
9. Tyrosinase activity and abundance in Cloudman melanoma cells
10. Tyrosinases of murine melanocytes with mutations at the albino locus
11. Aberrant retention of tyrosinase in the endoplasmic reticulum mediates accelerated degradation of the enzyme and contributes to the dedifferentiated phenotype of amelanotic melanoma cells
12. Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism
13. Proper folding and ER to Golgi transport of tyrosinase are induced by its substrates, DOPA and tyrosine
14. Abnormal acidification of melanoma cells induces tyrosinase retention in the early secretory pathway
15. The number and location of glycans on influenza hemagglutinin determine folding and association with calnexin and calreticulin
16. Intracellular functions of N-linked glycans
17. Identification of the albino mutation of mouse tyrosinase by analysis of an in vitro revertant
18. Albinism
19. Sequence analysis of mouse tyrosinase cDNA and the effect of melanotropin on its gene expression
20. Isolation, chromosomal mapping, and expression of the mouse tyrosinase gene
21. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism
22. Mammalian tyrosinase: Preparation and properties
23. Functional analysis of alternatively spliced tyrosinase gene transcripts
24. The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation
25. Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism
26. Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2)
27. The pink-eyed dilution locus controls the biogenesis of melanosomes and levels of melanosomal proteins in the eye
28. Molecular analyses of a tyrosinase-negative albino family
29. Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population
30. A sensitive new assay for the oxidation of 3,4-dihydroxy L-phenylalanine by tyrosinase
31. Normal tyrosine transport and abnormal tyrosinase routing in pink-eyed dilution melanocytes
32. Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes
33. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
34. Molecular genetics of oculocutaneous albinism
35. Normal murine melanocytes in culture
36. The molecular basis of oculocutaneous albinism type 1 (OCA1): Sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation
37. A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity
38. Translation rate of human tyrosinase determines its N-linked glycosylation level
39. Diverse roles of conserved asparagine-linked glycan sites on tyrosinase family glycoproteins
40. Melanin production in cultured albino melanocytes transfected with mouse tyrosinase cDNA