Literature DB >> 9242509

Mutational analysis of copper binding by human tyrosinase.

R A Spritz1, L Ho, M Furumura, V J Hearing.   

Abstract

Tyrosinase (EC 1.14.18.1) is a copper-containing enzyme that catalyzes several reactions in the biosynthesis of melanin pigments and is deficient in patients with type I oculocutaneous albinism (OCA1). Tyrosinase is thought to bind two copper ions, one at each of two conserved sequence motifs, termed CuA and CuB, but to date this has been directly proved only for the Neurospora and mushroom enzyme. Here, we demonstrate that mammalian tyrosinase directly binds copper, and that the CuA and CuB sites are both required for copper binding and for catalytic activity. We show that in human tyrosinase, copper binding by the CuB site is most likely coordinated by residues His363, His367, and His389, and that copper binding may be cooperative, with copper binding at one site facilitating copper binding by the other site. Furthermore, correct folding of the tyrosinase polypeptide appears to be necessary for copper binding, and a number of human OCA1 mutations disrupt copper binding and thus catalytic function of tyrosinase.

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Year:  1997        PMID: 9242509     DOI: 10.1111/1523-1747.ep12319351

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


  20 in total

1.  The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.

Authors:  K Toyofuku; I Wada; R A Spritz; V J Hearing
Journal:  Biochem J       Date:  2001-04-15       Impact factor: 3.857

2.  Mutations in dopachrome tautomerase (Dct) affect eumelanin/pheomelanin synthesis, but do not affect intracellular trafficking of the mutant protein.

Authors:  Gertrude-E Costin; Julio C Valencia; Kazumasa Wakamatsu; Shosuke Ito; Francisco Solano; Adina L Milac; Wilfred D Vieira; Yuji Yamaguchi; François Rouzaud; Andrei-J Petrescu; M Lynn Lamoreux; Vincent J Hearing
Journal:  Biochem J       Date:  2005-10-15       Impact factor: 3.857

3.  Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism.

Authors:  R Halaban; S Svedine; E Cheng; Y Smicun; R Aron; D N Hebert
Journal:  Proc Natl Acad Sci U S A       Date:  2000-05-23       Impact factor: 11.205

4.  Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Authors:  Lucia Mauri; Emanuela Manfredini; Alessandra Del Longo; Emanuela Veniani; Manuela Scarcello; Roberta Terrana; Adriano Egidio Radaelli; Donata Calò; Giuseppe Mingoia; Antonella Rossetti; Giovanni Marsico; Marco Mazza; Giovanni Pietro Gesu; Maria Cristina Patrosso; Silvana Penco; Elena Piozzi; Paola Primignani
Journal:  J Hum Genet       Date:  2016-10-13       Impact factor: 3.172

5.  Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

Authors:  Monika B Dolinska; Nicole J Kus; S Katie Farney; Paul T Wingfield; Brian P Brooks; Yuri V Sergeev
Journal:  Pigment Cell Melanoma Res       Date:  2017-01       Impact factor: 4.693

6.  Identification of copper ligands in Aspergillus oryzae tyrosinase by site-directed mutagenesis.

Authors:  M Nakamura; T Nakajima; Y Ohba; S Yamauchi; B R Lee; E Ichishima
Journal:  Biochem J       Date:  2000-09-01       Impact factor: 3.857

7.  A form of albinism in cattle is caused by a tyrosinase frameshift mutation.

Authors:  Sheila M Schmutz; Tom G Berryere; Daniel C Ciobanu; Alan J Mileham; Barbara H Schmidtz; Merete Fredholm
Journal:  Mamm Genome       Date:  2004-01       Impact factor: 2.957

8.  Pigmentation formation and expression analysis of tyrosinase in Siniperca chuatsi.

Authors:  Minglin Wu; Xiaowu Chen; Kai Cui; Haiyang Li; Yangyang Jiang
Journal:  Fish Physiol Biochem       Date:  2020-03-17       Impact factor: 2.794

9.  Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits.

Authors:  Kasturee Jagirdar; Darren J Smit; Stephen A Ainger; Katie J Lee; Darren L Brown; Brett Chapman; Zhen Zhen Zhao; Grant W Montgomery; Nicholas G Martin; Jennifer L Stow; David L Duffy; Richard A Sturm
Journal:  Pigment Cell Melanoma Res       Date:  2014-05-12       Impact factor: 4.693

10.  Structure of the two transmembrane Cu+ transport sites of the Cu+ -ATPases.

Authors:  Manuel González-Guerrero; Elif Eren; Swati Rawat; Timothy L Stemmler; José M Argüello
Journal:  J Biol Chem       Date:  2008-09-04       Impact factor: 5.157

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