A male with two contiguous inactivation centers on a single X chromosome: study of X inactivation and XIST expression

Abstract

This report investigates the case of a patient with a duplication of the long arm of the X chromosome containing the putative X inactivation center (XIC) and the recently isolated XIST (X inactive -specific transcript) gene which is thought to play a role in the X inactivation process. Based on replication studies, a two-fold higher than normal phosphoglycerate kinase activity and absence of XIST expression, we conclude that the duplicated region is not subject to X-inactivation, despite the presence of two XICs. These results are discussed with respect to different models of X inactivation.