Analysis of centromeric activity in Robertsonian translocations: implications for a functional acrocentric hierarchy.

Journal Article (Journal Article)

Approximately 90% of human Robertsonian translocations occur between nonhomologous acrocentric chromosomes, producing dicentric elements which are stable in meiosis and mitosis, implying that one centromere is functionally inactivated or suppressed. To determine if this suppression is random, centromeric activity in 48 human dicentric Robertsonian translocations was assigned by assessment of the primary constrictions using dual color fluorescence in situ hybridization (FISH). Preferential activity/constriction of one centromere was observed in all except three different rearrangements. The activity is meiotically stable since intrafamilial consistency of a preferentially active centromere existed in members of six families. These results support evidence for nonrandom centromeric activity in humans and, more importantly, suggest a functional hierarchy in Robertsonian translocations with the chromosome 14 centromere most often active and the chromosome 15 centromere least often active.

Full Text

Duke Authors

Cited Authors

  • Sullivan, BA; Wolff, DJ; Schwartz, S

Published Date

  • December 1994

Published In

Volume / Issue

  • 103 / 7

Start / End Page

  • 459 - 467

PubMed ID

  • 7720412

International Standard Serial Number (ISSN)

  • 0009-5915

Digital Object Identifier (DOI)

  • 10.1007/BF00337384


  • eng

Conference Location

  • Austria