ABSTRACT

The unusual inheritance patterns of the segments of the genome have profound consequences for their genetic diversity and geo-graphical differentiation among populations, and have made them particularly informative tools in human evolutionary genetic studies. A key method to identify human sequences that are functionally important is to compare them with their counterparts in other species, known as orthologs. The great majority of the human genome is inherited from both parents, and undergoes reshuffling each generation through recombination. The number of genes in the human genome has been a hotly debated issue; early assumptions were that vertebrates would possess substantially greater numbers of genes than other organisms, reflecting their apparently greater biological complexity. The linear nature of deoxyribonucleic acid means that large genomes correspond to extremely long molecules. Mitochondria contain their own circular genomes of 16.5 kb, which are maternally inherited and escape recombination because paternal mitochon-dria from sperm do not persist after fertilization.