Human satellite-III DNA: an example of a "macrosatellite" polymorphism

Human satellite III DNA contains a complex polymorphism, which appears to be TaqI-specific. Its likely cause is a two-step point mutation in the pentameric repeat TTCCA, typical of satellite III. Hybridization of the satellite-III sequence-related probe that demonstrates this polymorphism is directly attributable to clusters of "pure" pentameric TTCCA repeats in the genome. The sites of such repeats include the 3.4-kb fragment specific to the Y chromosome and a limited number of autosomes. The polymorphism arises from the latter and is likely to include chromosomes containing so-called K domain satellite III sequences found, for example, in chromosomes 9 and 15. Segregation of the polymorphic fragments appears to follow orthodox genetics.