In the current issue, two articles highlight the impact of melanocyte transcription factor (MITF) on melanoma development. In the first, Lister et al. reveal in vivo proof of MITF directly regulating tumor development in BRAF(V600E) melanomas. In the second, Sturm et al. present a clinical trial that emphasizes the importance of the recently discovered E318K MITF germline mutation in patients w...

BACKGROUND Congenital microphthalmia (OMIM: 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated microphthalmia may be inherited as an autosomal dominant, an autosomal recessive, or an X linked trait. METHODS Based on a whole genome linkage analysis, in a six generation consanguineous family with autosomal recessive inheritance, the first locus f...

Microphthalmia in sheep is an autosomal recessive inherited congenital anomaly found within the Texel breed. It is characterized by extremely small or absent eyes and affected lambs are absolutely blind. For the first time, we use a genome-wide ovine SNP array for positional cloning of a Mendelian trait in sheep. Genotyping 23 cases and 23 controls using Illumina's OvineSNP50 BeadChip allowed u...

Melanocyte differentiation characterized by an increased melanogenesis, is stimulated by alpha-melanocyte-stimulating hormone through activation of the cAMP pathway. During this process, the expression of tyrosinase, the enzyme that controls melanin synthesis is upregulated. We previously showed that cAMP regulates transcription of the tyrosinase gene through a CATGTG motif that binds microphth...

AIM To describe the prevalence of anophthalmia/microphthalmia in babies born in England 1988-94, as well as their overall survival, and the incidence of associated eye and non-eye malformations; to determine the usefulness of different sources of medical and health service information for establishing a retrospective register of anophthalmia/microphthalmia. METHODS Multiple sources for initia...

holoprosencephaly (hpe) is a rare congenital brain malformation associated with multiple midline facial defects. this anomaly is resulted from the failure of diverticulation and cleavage of primitive prosencephalon during weeks 4-8 of gestation. hpe is the most common forebrain developmental anomaly in human with the incidence rate of 0.49-1.2 cases per 10,000-20,000 term births. in this study,...