Literature DB >> 1832718

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

L B Giebel1, M A Musarella, R A Spritz.   

Abstract

We detected a nonsense mutation in the tyrosinase gene of two Afghan sibs with classical tyrosinase negative (type IA) oculocutaneous albinism. The mutation, a single base substitution at codon 178, creates an amber termination codon that truncates the 529 amino acid tyrosinase polypeptide at this position. The patients' parents are first cousins, and the patients are therefore homoallelic for this mutation.

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Year:  1991        PMID： 1832718      PMCID： PMC1016956          DOI： 10.1136/jmg.28.7.464

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  16 in total

1.  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

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

Authors:  L B Giebel; K M Strunk; R A King; J M Hanifin; R A Spritz
Journal:  Proc Natl Acad Sci U S A       Date:  1990-05       Impact factor: 11.205

3.  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 4.  Albinism.

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

5.  Isolation of human tyrosinase from cultured melanoma cells.

Authors:  A Wittbjer; B Dahlbäck; G Odh; A M Rosengren; E Rosengren; H Rorsman
Journal:  Acta Derm Venereol       Date:  1989       Impact factor: 4.437

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.  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

8.  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

9.  RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR.

Authors:  L B Giebel; R A Spritz
Journal:  Nucleic Acids Res       Date:  1990-05-25       Impact factor: 16.971

10.  Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA.

Authors:  B Bouchard; B B Fuller; S Vijayasaradhi; A N Houghton
Journal:  J Exp Med       Date:  1989-06-01       Impact factor: 14.307
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  5 in total

1.  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

2.  Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.

Authors:  R Gershoni-Baruch; A Rosenmann; S Droetto; S Holmes; R K Tripathi; R A Spritz
Journal:  Am J Hum Genet       Date:  1994-04       Impact factor: 11.025

3.  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

4.  Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).

Authors:  R K Tripathi; S Bundey; M A Musarella; S Droetto; K M Strunk; S A Holmes; R A Spritz
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

5.  A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella).

Authors:  Felipe Tadeu Galante Rocha de Vasconcelos; Einat Hauzman; Leonardo Dutra Henriques; Paulo Roney Kilpp Goulart; Olavo de Faria Galvão; Ronaldo Yuiti Sano; Givago da Silva Souza; Jessica Lynch Alfaro; Luis Carlos de Lima Silveira; Dora Fix Ventura; Daniela Maria Oliveira Bonci
Journal:  BMC Genet       Date:  2017-05-05       Impact factor: 2.797
  5 in total

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