This overview for the special issue of Environmental and Molecular Mutagenesis devoted to recent advances in human genetics relevant to mutagenesis briefly surveys the advances in the field. We present the evidence that trinucleotide repeat expansion can cause anticipation in human inherited disease. The finding that transposons are active in humans, as they are in other organisms, is reviewed. We present an example of two different diseases being caused by mutations in one gene. The role of mitochondrial mutations and parent-specific gene origin effects ("imprinting") are briefly reviewed; fuller reviews are provided in other articles in this special issue. Finally, the relevance of epigenetic inheritance by protein-protein interaction is included.