title: New animal models to study the role of tyrosinase in normal retinal development.
abstract: Albino animals display a hypopigmented phenotype associated with several visual abnormalities, including rod photoreceptor cell deficits, abnormal patterns of connections between the eye and the brain and a general underdevelopment of central retina. Oculocutaneous albinism type I, a common form of albinism, is caused by mutations in the tyrosinase gene. In mice, the albino phenotype can be corrected by functional tyrosinase transgenes. Tyrosinase transgenic animals not only show normal pigmentation but the correction of all visual abnormalities associated with albinism, confirming a role of tyrosinase, a key enzyme in melanin biosynthesis, in normal retinal development. Here, we will discuss recent work carried out with new tyrosinase transgenic mouse models, to further analyse the role of tyrosinase in retinal development. We will first report a transgenic model with inducible tyrosinase expression that has been used to address the regulated activation of this gene and its associated effects on the development of the visual system. Second, we will comment on an interesting yeast artificial chromosome (YAC)-tyrosinase transgene, lacking important regulatory elements, that has highlighted the significance of local interactions between the retinal pigment epithelium (RPE) and developing neural retina.
authors.affiliation: Department of Molecular and Cellular Biology, Centro Nacional de Biotecnologia (CNB-CSIC), Campus de Cantoblanco, C/ Darwin 3, 28049 Madrid, Spain.
authors.forename: Alfonso
authors.initials: A
authors.lastname: Lavado
authors.forename: Lluis
authors.initials: L
authors.lastname: Montoliu
mesh_terms: D000417:Albinism; D016115:Albinism, Oculocutaneous / Q000235:genetics; D000818:Animals; D022202:Chromosomes, Artificial, Bacterial / Q000378:metabolism; D018244:Chromosomes, Artificial, Yeast; D003433:Crosses, Genetic; D004195:Disease Models, Animal; D005091:Exons; D005786:Gene Expression Regulation; D007980:Levodopa / Q000378:metabolism; D008543:Melanins / Q000502:physiology; D051379:Mice; D008822:Mice, Transgenic; D008957:Models, Genetic; D014442:Monophenol Monooxygenase / Q000235:genetics / Q000378:metabolism / Q000502:physiology*; D009154:Mutation; D010641:Phenotype; D012160:Retina / Q000196:embryology* / Q000473:pathology*; D015533:Transcriptional Activation; D019076:Transgenes
chemical_list: D008543:Melanins; D007980:Levodopa; D014442:Monophenol Monooxygenase