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

Journal Article · Sat Jun 15 04:00:00 EDT 1991 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.88.12.5272· OSTI ID:6100418

Chintamaneni, C D; Kobayashi, Y; Kwon, B S ^[1]; Halaban, R ^[2]; Witkop, Jr, C J ^[3]

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1. Indiana Univ. School of Medicine, Indianapolis (United States)
2. Yale Univ. School of Medicine, New Haven, CT (United States)
3. Univ. of Minnesota, Minneapolis (United States)

The authors have determined a molecular defect to be the likely basis for inactivity of the tyrosinase from a patient with tyrosinase-negative oculocutaneous albinism. A single base (thymine) was inserted in exon 5 of the tyrosinase gene following codon 471 in the putative transmembrane coding region. This insertion caused a shift in the reading frame of 19 amino acids at the 3{prime} end and introduced a premature termination signal that would be expected to truncate the protein by 21 amino acids at the carboxyl terminus. The albino tyrosinase was not recognized by antibodies directed to the carboxyl terminus of tyrosinase. Furthermore, as shown by gel electrophoresis of the immunoprecipitated protein, the tyrosinase was {approx} 3kDa smaller than normal. Similar immunoprecipitation data were obtained when cloned normal and mutant tyrosinases were expressed in COS-1 cells.

• OSTI ID: 6100418
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (United States) Vol. 88:12; ISSN PNASA; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

550201* -- Biochemistry-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
AMINO ACID SEQUENCE
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
DAYS LIVING RADIOISOTOPES
DISEASES
DNA
DNA SEQUENCING
ELECTROPHORESIS
ENZYMES
ETIOLOGY
EVEN-ODD NUCLEI
HEREDITARY DISEASES
HYDROXY COMPOUNDS
HYDROXYLASES
ISOTOPES
LIGHT NUCLEI
MELANIN
MOLECULAR STRUCTURE
NUCLEI
NUCLEIC ACIDS
ORGANIC COMPOUNDS
ORGANIC NITROGEN COMPOUNDS
OXIDOREDUCTASES
PATIENTS
PIGMENTS
PROTEINS
RADIOISOTOPES
RECOMBINANT DNA
RFLPS
STRUCTURAL CHEMICAL ANALYSIS
SULFUR 35
SULFUR ISOTOPES
TYROSINASE