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

Biochemical and Biophysical Research Communications
Y TomitaS Shibahara

Abstract

Tyrosinase-negative oculocutaneous albinism (OCA) is an inborn error of metabolism, characterized by a complete lack of melanin pigments in the eyes and skin. We have isolated and characterized the tyrosinase gene of one affected child (S.S.) with tyrosinase-negative OCA. Sequence analysis reveals a single-base insertion in the exon 2 that shifts the reading frame and introduces a premature termination signal (TGA codon) after the amino acid residue 298. Functional analysis of the mutated gene indicates that such a truncated tyrosinase lacking one potential copper-binding region is catalytically inactive. We therefore conclude that the albino phenotype of the patient S.S. is a consequence of the inactive tyrosinase caused by the nonsense mutation in the tyrosinase gene.

References

Sep 1, 1979·Journal of the National Cancer Institute·M L Kripke
Aug 15, 1989·Biochemical and Biophysical Research Communications·A TakedaS Shibahara
Dec 1, 1988·The Tohoku Journal of Experimental Medicine·S ShibaharaT Cohen
Mar 25, 1986·Nucleic Acids Research·S ShibaharaR Müller
Jan 1, 1980·Methods in Enzymology·A M Maxam, W Gilbert
May 16, 1997·The Journal of Biological Chemistry·S Nishikawa, T Endo

❮ Previous
Next ❯

Citations

May 23, 2001·Clinics in Dermatology·T Nishikawa
Feb 23, 2002·Journal of Dermatological Science·Eriko NakamuraYasushi Tomita
May 3, 2003·Journal of Dermatological Science·Atsushi KatoMasamitsu Ishii
Jul 10, 2003·Journal of Dermatological Science·Tamio SuzukiYasushi Tomita
Jan 16, 1999·Journal of Dermatological Science·H Shimizu, K Suzumori
Jun 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·R Halaban, G Moellmann
May 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·L B GiebelR A Spritz
Jun 25, 1991·Proceedings of the National Academy of Sciences of the United States of America·C D ChintamaneniB S Kwon
Oct 15, 1991·Proceedings of the National Academy of Sciences of the United States of America·B S KwonK K Kim
Dec 6, 2011·The Journal of Heredity·Andrea M PolanowskiSimon N Jarman
Dec 11, 1999·Current Opinion in Pediatrics·W S Oetting
Dec 1, 1992·The British Journal of Dermatology·M AkiyamaT Nishikawa
Nov 1, 1992·Pigment Cell Research·S Shibahara
Aug 1, 1993·Pigment Cell Research·K UrabeV J Hearing
Feb 1, 1997·Pigment Cell Research·R E Boissy, J J Nordlund
Jan 15, 1998·Pigment Cell Research·A Koga, H Hori
Feb 5, 2009·Pigment Cell & Melanoma Research·Thomas J HornyakFaith M Strickland
Apr 29, 2009·Pigment Cell & Melanoma Research·Androuw CarrascoMurray H Brilliant
Nov 6, 2007·Orphanet Journal of Rare Diseases·Karen GrønskovKaren Brondum-Nielsen
Mar 10, 2007·The Tohoku Journal of Experimental Medicine·Kazuhisa TakedaShigeki Shibahara
Aug 6, 2014·BioMed Research International·Balu Kamaraj, Rituraj Purohit
Jan 13, 2015·Genetics Research·Ning LiuMiao Jiang
Dec 3, 2014·Genomics·Kirk D Haltaufderhyde, Elena Oancea
Mar 16, 2007·Progress in Retinal and Eye Research·Kunal RayMainak Sengupta
Sep 16, 2005·Pigment Cell Research·Katsuhiko InagakiYasushi Tomita
Feb 8, 2007·The European Journal of Neuroscience·Elisabeth A H von dem HagenAntony B Morland

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.