Literature DB >> 1970634

A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

L B Giebel1, K M Strunk, R A King, J M Hanifin, R A Spritz.   

Abstract

We have identified a tyrosinase gene mutation in several patients with classic, tyrosinase-negative (type IA) oculocutaneous albinism. This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals. This mutation thus appears to be a frequent cause of tyrosinase-negative oculocutaneous albinism.

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Year:  1990        PMID： 1970634      PMCID： PMC53878          DOI： 10.1073/pnas.87.9.3255

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  16 in total

1.  Biochemistry of melanin formation.

Authors:  A B LERNER; T B FITZPATRICK
Journal:  Physiol Rev       Date:  1950-01       Impact factor: 37.312

2.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

Review 3.  Albinism.

Authors:  R A King; C G Summers
Journal:  Dermatol Clin       Date:  1988-04       Impact factor: 3.478

4.  RFLP for TaqI at the human tyrosinase locus.

Authors:  R Spritz; K Strunk; W Oetting; R King
Journal:  Nucleic Acids Res       Date:  1988-10-25       Impact factor: 16.971

5.  Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location.

Authors:  R A King; D P Olds
Journal:  Am J Med Genet       Date:  1985-01

6.  Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.

Authors:  Y Tomita; A Takeda; S Okinaga; H Tagami; S Shibahara
Journal:  Biochem Biophys Res Commun       Date:  1989-11-15       Impact factor: 3.575

7.  Molecular basis for the heterogeneity of human tyrosinase.

Authors:  S Shibahara; Y Tomita; H Tagami; R M Müller; T Cohen
Journal:  Tohoku J Exp Med       Date:  1988-12       Impact factor: 1.848

8.  Tyrosinase activity and abundance in Cloudman melanoma cells.

Authors:  R Halaban; S H Pomerantz; S Marshall; A B Lerner
Journal:  Arch Biochem Biophys       Date:  1984-04       Impact factor: 4.013

9.  Multiple transcripts of the mouse tyrosinase gene are generated by alternative splicing.

Authors:  S Ruppert; G Müller; B Kwon; G Schütz
Journal:  EMBO J       Date:  1988-09       Impact factor: 11.598

10.  Functional analysis of alternatively spliced tyrosinase gene transcripts.

Authors:  G Müller; S Ruppert; E Schmid; G Schütz
Journal:  EMBO J       Date:  1988-09       Impact factor: 11.598
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  14 in total

1.  A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism.

Authors:  C D Chintamaneni; R Halaban; Y Kobayashi; C J Witkop; B S Kwon
Journal:  Proc Natl Acad Sci U S A       Date:  1991-06-15       Impact factor: 11.205

2.  A genomewide association study of skin pigmentation in a South Asian population.

Authors:  Renee P Stokowski; P V Krishna Pant; Tony Dadd; Amelia Fereday; David A Hinds; Carl Jarman; Wendy Filsell; Rebecca S Ginger; Martin R Green; Frans J van der Ouderaa; David R Cox
Journal:  Am J Hum Genet       Date:  2007-10-15       Impact factor: 11.025

3.  A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.

Authors:  L B Giebel; M A Musarella; R A Spritz
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

4.  Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.

Authors:  R A Spritz; K M Strunk; C L Hsieh; G S Sekhon; U Francke
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

5.  Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.

Authors:  R A King; D Townsend; W Oetting; C G Summers; D P Olds; J G White; R A Spritz
Journal:  J Clin Invest       Date:  1991-03       Impact factor: 14.808

6.  Removal of potentially confounding phenotypes from a Siamese-derived feline glaucoma breeding colony.

Authors:  Michelle M Rutz-Mendicino; Elizabeth M Snella; Jackie K Jens; Barbara Gandolfi; Steven A Carlson; Markus H Kuehn; Gillian J McLellan; N Matthew Ellinwood
Journal:  Comp Med       Date:  2011-06       Impact factor: 0.982

7.  A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.

Authors:  W S Oetting; C J Witkop; S A Brown; R Colomer; J P Fryer; K E Bloom; R A King
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

8.  Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.

Authors:  L B Giebel; R K Tripathi; K M Strunk; J M Hanifin; C E Jackson; R A King; R A Spritz
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

9.  A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.

Authors:  L B Giebel; R K Tripathi; R A King; R A Spritz
Journal:  J Clin Invest       Date:  1991-03       Impact factor: 14.808

10.  The tyrosinase-related protein-1 gene has a structure and promoter sequence very different from tyrosinase.

Authors:  I J Jackson; D M Chambers; P S Budd; R Johnson
Journal:  Nucleic Acids Res       Date:  1991-07-25       Impact factor: 16.971
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