Inactivation System of the Mammalian X Chromosome

Abstract

In female mammals, one of the two X chromosomes present is inactivated during early development. In marsupials, the paternal X is inactivated; in eutherians, one of the two X chromosomes is inactivated at random. A mechanism is proposed to explain the cytogenetic data on inactivation and the derivation of the eutherian system from the marsupial system. In the marsupial system, a site on the X chromosome is sensitive to paternal origin: when the X chromosome is of maternal origin, this sensitive site is responsible for influencing an adjacent site, the receptor, to maintain the X in an active state; the paternal X becomes inactive. Transposition of the sensitive site to an autosome in eutherians would have two consequences. Since the receptor site of the X chromosome is no longer adjacent, the autosomal sensitive site of maternal origin would activate an X at random. The number of active X chromosomes would conform to the number of maternal sensitive sites and thus, generally, to the number of maternal sets of autosomes. The response of the sensitive site to its passage through the male may be designated as imprinting, a term used by Crouse to indicate that the behavior of Sciara chromosomes is determined by parental origin.