A well-characterized example of minisatellite genomic function is that associated with the human HRAS1 oncogene (Capon et al. 1983).
The surest indicator of the existence of a genomic function is that losing it has some phenotypic consequence for the organism.
In breast cancer, gain-of-function mutations in the PI3K catalytic subunit alpha gene (PIK3CA) and loss of phosphatase and tensin homolog (PTEN) function are common genomic events, either of which can result in an activated PI3K pathway phenotype and induction of oncogenic transformation, as demonstrated in preclinical models [ 1– 5].
In both strains, more than 2/3 of strain-specific genes having a predicted function are clustered in genomic regions (GR) that are positioned along the chromosome.
Genomic function can be understood at the nucleotide level, but, the complexity and diversity of genomic function, leading to an emergent picture of the genome as an interacting system with many degrees of freedom, bring experimental and theoretical challenges to the quantitative measurement of the biological state, many of which are of statistical nature.
Epigenetics refers to regulation of various genomic functions that are controlled by heritable, partially stable modifications in DNA methylation and/or chromatin structure (Henikoff and Matzke 1997).
Contact: [email protected] or [email protected] Spatial and temporal 3D genome architecture is thought to play an important role in many genomic functions, but is still poorly understood (van Steensel and Dekker, 2010).
Many genomic features and functions are influenced by the G+C content, such as gene density, activity of the genes, timing of replication, recombination events and others [ 8- 10].
The inconsistency in genomic locations suggests that their potential function is not confined by the local genomic context, which means not being confined by the genes harboring it, though there are other constraints to limit their location, e.g., relative distance conservation [4].
Either way, when p53 function is jeopardized, genomic instability and uncontrolled cell proliferation are facilitated.
