Literature DB >> 1899321

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

R A Spritz1, K M Strunk, C L Hsieh, G S Sekhon, U Francke.   

Abstract

We have identified a tyrosinase gene mutation in an American black with classic, tyrosinase-negative oculocutaneous albinism. This mutation results in an amino acid substitution (Cys----Arg) at codon 89 of the tyrosinase polypeptide. The proband is homozygous for the substitution, suggesting that this mutation may be frequently associated with tyrosinase-negative oculocutaneous albinism in blacks.

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Year:  1991        PMID： 1899321      PMCID： PMC1683030     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  23 in total

1.  Dinucleotide repeat polymorphism at the D11S35 locus.

Authors:  M Litt; V Sharma; J A Luty
Journal:  Nucleic Acids Res       Date:  1990-10-11       Impact factor: 16.971

2.  Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.

Authors:  B S Kwon; A K Haq; S H Pomerantz; R Halaban
Journal:  Proc Natl Acad Sci U S A       Date:  1987-11       Impact factor: 11.205

3.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

4.  Biochemistry of melanin formation.

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

5.  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 6.  Albinism.

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

7.  Human U1-70K ribonucleoprotein antigen gene: organization, nucleotide sequence, and mapping to locus 19q13.3.

Authors:  R A Spritz; K Strunk; C S Surowy; H W Mohrenweiser
Journal:  Genomics       Date:  1990-10       Impact factor: 5.736

8.  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

9.  Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7.

Authors:  D E Barton; B S Kwon; U Francke
Journal:  Genomics       Date:  1988-07       Impact factor: 5.736

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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  9 in total

1.  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

2.  Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.

Authors:  W S Oetting; M M Mentink; C G Summers; R A Lewis; J G White; R A King
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

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.  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

5.  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

6.  Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.

Authors:  W S Oetting; R A King
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

7.  A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity.

Authors:  R K Tripathi; L B Giebel; K M Strunk; R A Spritz
Journal:  Gene Expr       Date:  1991-05

8.  A second tyrosinase-related protein, TRP-2, maps to and is mutated at the mouse slaty locus.

Authors:  I J Jackson; D M Chambers; K Tsukamoto; N G Copeland; D J Gilbert; N A Jenkins; V Hearing
Journal:  EMBO J       Date:  1992-02       Impact factor: 11.598

9.  Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

Authors:  Vadieh Ghodsinejad Kalahroudi; Behnam Kamalidehghan; Ahoura Arasteh Kani; Omid Aryani; Mahdi Tondar; Fatemeh Ahmadipour; Lip Yong Chung; Massoud Houshmand
Journal:  PLoS One       Date:  2014-09-12       Impact factor: 3.240
  9 in total

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