Ring chromosomes: from formation to clinical potential

Inna E. Pristyazhnyuk, Aleksei G. Menzorov

Research output: Contribution to journalReview articlepeer-review

15 Citations (Scopus)

Abstract

Ring chromosomes (RCs) are circular DNA molecules, which occur rarely in eukaryotic nuclear genomes. Lilian Vaughan Morgan first described them in the fruit fly. Human embryos very seldom have RCs, about 1:50,000. Carriers of RCs may have varying degrees of symptoms, from healthy phenotype to serious pathologies in physical and intellectual development. Many authors describe common symptoms of RC presence: short stature and some developmental delay that could be described as a “ring chromosome syndrome.” As a rule, RCs arise de novo through the end-joining of two DNA double-strand breaks, telomere-subtelomere junction, or inv dup del rearrangement in both meiosis and mitosis. There are family cases of RC inheritance. The presence of RCs causes numerous secondary chromosome rearrangements in vivo and in vitro. RCs can change their size, become lost, or increase their copy number and cause additional deletions, duplication, and translocations, affecting both RCs and other chromosomes. In this review, we examine RC inheritance, instability, mechanisms of formation, and potential clinical applications of artificially created RCs for large-scale chromosome rearrangement treatment.

Original languageEnglish
Pages (from-to)439-449
Number of pages11
JournalProtoplasma
Volume255
Issue number2
DOIs
Publication statusPublished - 1 Mar 2018

Keywords

  • Chromosome therapy
  • Dynamic mosaicism
  • Ring chromosome
  • Ring chromosome syndrome
  • STEM-CELLS
  • IN-SITU HYBRIDIZATION
  • MECHANISMS
  • MOLECULAR ANALYSIS
  • MEIOTIC BEHAVIOR
  • Y-CHROMOSOME
  • GENE-EXPRESSION
  • GROWTH FAILURE
  • OF-THE-LITERATURE
  • MARKER CHROMOSOMES

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