Drosophila chromosomes, especially the giant chromosomes found in the salivary glands of mature larvae, are used in studies involving heritable characteristics and the basis for gene action.
Human and mouse models of accelerated aging frequently involve heritable defects in genome maintenance mechanisms, implicating spontaneous genotoxic stress as an important causal factor in age-related deterioration and death [2].
Epigenetic modifications involve heritable changes in gene expression without changes in the nucleotide sequence [ 25– 27] and can include histone modification, DNA methylation, chromatin remodeling, or microRNA or prion activity [ 28– 30].
In this way, the geneticist can offer conclusive evidence for the presence of a locus involved in heritable trait variation.
This review aims to present the strengths and weaknesses of the current approaches, and present some new ideas about gene-mapping approaches that are likely to advance our knowledge of the genes involved in heritable bone traits such as bone mineral density (BMD) and fracture.
While the majority of the hitherto characterized pre-mRNA splicing defects, involved in heritable disorders, reside in the donor- and acceptor-splice sites, recent studies have documented several mutations with a very complex splicing outcome [11], [18], [19], [20], [21], [22].
The polycomb group (PcG) proteins and the DNA methylation systems are intimately involved in heritable repression of gene activity.
Most interestingly from a human health perspective, archaebacterial genes are less likely to be involved in heritable human disease.
Based on its biological function, and direct interaction with several known breast cancer risk factors, AATF is a good candidate gene for being involved in heritable cancer susceptibility.
