Regulation of rRNA gene expression in a human familial 14p+ marker chromosome.

Abstract

Chromosome studies were carried out on normal individuals from three generations of one family with a 14p+ chromosome. The short arm of the 14p+ chromosome stained well using Giemsa but poorly using quinacrine or trypsin-Giemsa methods; in each case there was an unstained secondary constriction near the distal end of the short arm. Two Ag bands of average size were present on the 14p+ short arm, indicating that there were two active nucleolus organizer regions; the Ag band near the distal end of the short arm was slightly larger than that near the centromere. Each of the two Ag bands was seen associated with the short arm of one or more of the other acrocentric chromosomes, with a combined frequency of association no greater than that of other chromosomes with an Ag band of the same size. In one individual, hybridization in situ with radioactive 18S and 28S ribosomal RNA showed six times as many autoradiographic silver grains over the short arm of the 14p+ chromosome as over that of any other acrocentric chromosome. The results obtained using in situ labeling indicated that the 14p+ chromosome had a large number of rRNA genes compared with the other acrocentric chromosomes, whereas the results obtained using Ag-staining and association frequency indicated that the 14p+ chromosome had no greater nucleolus organizer activity than did the other acrocentrics. The difference in these findings suggests that not all the rRNA genes on the 14p+ chromosome were active.