A trinucleotide deletion together with a base duplication event at codon 439 in the human tyrosinase gene identifies a mutational hotspot

Molecular analysis of the human tyrosinage gene in two patients suffering from a temperature-sensitive form of albinism has identified a thymine triplet deletion at codon 439 which is accompanied by a duplication of the immediately preceding cytosine residue. This results in a two base pair frame sh...

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Bibliographic Details
Published in:Clinica chimica acta 1995-12, Vol.243 (1), p.35-42
Main Authors: Breimer, Lars H., Winder, Anthony F., Panayiotidis, Panos, Jay, Marcelle, Moore, Anthony, Jay, Barrie
Format: Article
Language:English
Subjects:
Adolescent
Albinism, Oculocutaneous - genetics
Autoradiography
Base Sequence
Biological and medical sciences
Codon - genetics
Cystic fibrosis
Deletion
Dermatology
duplication
Female
Human albinism
Humans
Male
Medical sciences
Molecular Sequence Data
Monophenol Monooxygenase - genetics
Multigene Family
Mutation
Oligonucleotides - genetics
Pedigree
Phenotype
Pigmentary diseases of the skin
Polymerase Chain Reaction
Sequence Deletion
Temperature sensitive mutation
Truncated protein
Tyrosinase
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Summary:Molecular analysis of the human tyrosinage gene in two patients suffering from a temperature-sensitive form of albinism has identified a thymine triplet deletion at codon 439 which is accompanied by a duplication of the immediately preceding cytosine residue. This results in a two base pair frame shift leading to premature termination at codon 448, giving a truncated protein. Its relationship to other mutations in tyrosinase and the possible cause are discussed. The temperature-sensitive phenotype is due to the guanine to adenine mutation at codon 422, known to generate a temperature-sensitive enzyme. The CTTT at F 439 in tyrosinase is also present at F 508 in CFTR, the main mutation causing cystic fibrosis.
ISSN:0009-8981
1873-3492
DOI:10.1016/0009-8981(95)06152-5