MYCN induces cell-specific tumorigenic growth in RB1-proficient human retinal organoid and chicken retina models of retinoblastoma.

Retinoblastoma is a rare, intraocular paediatric cancer that originates in the neural retina and is most frequently caused by bi-allelic loss of RB1 gene function. Other oncogenic mutations, such as amplification and increased expression of the MYCN gene, have been found even with proficient RB1 function. In this study, we investigated whether MYCN over-expression can drive carcinogenesis independently of RB1 loss-of-function mutations.

Zinc finger gene nolz1 regulates the formation of retinal progenitor cells and suppresses the Lim3/Lhx3 phenotype of retinal bipolar cells in chicken retina.

Background: The zinc-finger transcription factor Nolz1 regulates spinal cord neuron development by interacting with the transcription factors Isl1, Lim1, and Lim3, which are also important for photoreceptors, horizontal and bipolar cells during retinal development. We, therefore, studied Nolz1 during retinal development.

Results: Nolz1 expression was seen in two waves during development: one early (peak at embryonic day 3-4.

Heterogeneity in retinoblastoma: a tale of molecules and models.

Retinoblastoma, an intraocular pediatric cancer, develops in the embryonic retina following biallelic loss of RB1. However, there is a wide range of genetic and epigenetic changes that can affect RB1 resulting in different clinical outcomes. In addition, other transformations, such as MYCN amplification, generate particularly aggressive tumors, which may or may not be RB1 independent.

A regulatory sequence from the directs expression to horizontal cells and photoreceptors in the embryonic chicken retina.

Purpose: Combining techniques of episomal vector gene-specific Cre expression and genomic integration using the piggyBac transposon system enables studies of gene expression-specific cell lineage tracing in the chicken retina. In this work, we aimed to target the retinal horizontal cell progenitors.

Methods: A 208 bp gene regulatory sequence from the chicken (RXRγ208) was used to drive Cre expression.

Clathrin heavy chain gene fusions expressed in human cancers: analysis of cellular functions.

Clathrin is a protein expressed ubiquitously that has important functions in membrane trafficking and mitosis. Two different gene fusions involving clathrin heavy chain (CHC) have been described in human cancers. These involve either anaplastic lymphoma kinase (ALK) or transcription factor binding to IGHM enhancer 3 (TFE3) and raise the possibility that altered clathrin function in cells expressing the fusion proteins could contribute to oncogenesis.