TY - JOUR

T1 - Ring chromosomes

T2 - from formation to clinical potential

AU - Pristyazhnyuk, Inna E.

AU - Menzorov, Aleksei G.

PY - 2018/3/1

Y1 - 2018/3/1

N2 - 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.

AB - 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.

KW - Chromosome therapy

KW - Dynamic mosaicism

KW - Ring chromosome

KW - Ring chromosome syndrome

KW - STEM-CELLS

KW - IN-SITU HYBRIDIZATION

KW - MECHANISMS

KW - MOLECULAR ANALYSIS

KW - MEIOTIC BEHAVIOR

KW - Y-CHROMOSOME

KW - GENE-EXPRESSION

KW - GROWTH FAILURE

KW - OF-THE-LITERATURE

KW - MARKER CHROMOSOMES

UR - http://www.scopus.com/inward/record.url?scp=85029102445&partnerID=8YFLogxK

U2 - 10.1007/s00709-017-1165-1

DO - 10.1007/s00709-017-1165-1

M3 - Review article

C2 - 28894962

AN - SCOPUS:85029102445

VL - 255

SP - 439

EP - 449

JO - Protoplasma

JF - Protoplasma

SN - 0033-183X

IS - 2

ER -