AUTHOR=Hajjari Mohammadreza , Khoshnevisan Atefeh , Lemos Bernardo 

TITLE=Characterizing the Retinoblastoma 1 locus: putative elements for Rb1 regulation by in silico analysis

JOURNAL=Frontiers in Genetics

VOLUME=5

YEAR=2014

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2014.00002

DOI=10.3389/fgene.2014.00002

ISSN=1664-8021

ABSTRACT=<p>Limited understanding of the <italic>Rb1</italic> locus hinders genetic and epigenetic analyses of Retinoblastoma, a childhood cancer of the nervous systems. In this study, we used <italic>in silico</italic> tools to investigate and review putative genetic and epigenetic elements of the <italic>Rb1</italic> gene. We report transcription start sites, CpG islands, and regulatory moieties that are likely to influence transcriptional states of this gene. These might contribute genetic and epigenetic information modulating tissue-specific transcripts and expression levels of <italic>Rb1</italic>. The elements we identified include tandem repeats that reside within or next to CpG islands near <italic>Rb1</italic>'s transcriptional start site, and that are likely to be polymorphic among individuals. Our analyses highlight the complexity of this gene and suggest opportunities and limitations for future studies of retinoblastoma, genetic counseling, and the accurate identification of patients at greater risk of developing the malignancy.</p>