Mechanisms of structural chromosomal rearrangement formation

B Burssed, M Zamariolli, FT Bellucco… - Molecular …, 2022 - Springer
Structural chromosomal rearrangements result from different mechanisms of formation,
usually related to certain genomic architectural features that may lead to genetic instability …

Circular DNA elements of chromosomal origin are common in healthy human somatic tissue

HD Møller, M Mohiyuddin, I Prada-Luengo… - Nature …, 2018 - nature.com
The human genome is generally organized into stable chromosomes, and only tumor cells
are known to accumulate kilobase (kb)-sized extrachromosomal circular DNA elements …

Chromosomal abnormalities predisposing to infertility, testing, and management: a narrative review

TO Yahaya, EO Oladele, D Anyebe, C Obi… - Bulletin of the National …, 2021 - Springer
Background Much interest has not been placed on the role of chromosomal abnormalities in
the pathogenesis and rising prevalence of infertility in recent times. This review was …

Design, construction, and functional characterization of a tRNA neochromosome in yeast

D Schindler, RSK Walker, S Jiang, AN Brooks, Y Wang… - Cell, 2023 - cell.com
Here, we report the design, construction, and characterization of a tRNA neochromosome, a
designer chromosome that functions as an additional, de novo counterpart to the native …

CRISPR-C: circularization of genes and chromosome by CRISPR in human cells

HD Møller, L Lin, X Xiang, TS Petersen… - Nucleic acids …, 2018 - academic.oup.com
Extrachromosomal circular DNA (eccDNA) and ring chromosomes are genetic alterations
found in humans with genetic disorders. However, there is a lack of genetic engineering …

Circle-Seq: isolation and sequencing of chromosome-derived circular DNA elements in cells

HD Møller - DNA Electrophoresis: Methods and Protocols, 2020 - Springer
Chromosome-derived extrachromosomal circular DNA elements (eccDNAs) are detected in
all eukaryotes examined so far. Here I describe the Circle-Seq protocol, applicable for …

Identification and characterization of extrachromosomal circular DNA in patients with high myopia and cataract

K Wen, L Zhang, Y Cai, H Teng, J Liang, Y Yue, Y Li… - Epigenetics, 2023 - Taylor & Francis
To explore the presence of extrachromosomal circular DNA (eccDNA) in the anterior
capsule of the lens in the eyes of patients with cataract and with high myopia. Circle-Seq …

Large inverted duplications in the human genome form via a fold-back mechanism

KE Hermetz, S Newman, KN Conneely, CL Martin… - PLoS …, 2014 - journals.plos.org
Inverted duplications are a common type of copy number variation (CNV) in germline and
somatic genomes. Large duplications that include many genes can lead to both …

Complex biology of constitutional ring chromosomes structure and (in) stability revealed by somatic cell reprogramming

TV Nikitina, AA Kashevarova, MM Gridina… - Scientific reports, 2021 - nature.com
Human ring chromosomes are often unstable during mitosis, and daughter cells can be
partially or completely aneuploid. We studied the mitotic stability of four ring chromosomes …

Ring chromosomes: from formation to clinical potential

IE Pristyazhnyuk, AG Menzorov - Protoplasma, 2018 - Springer
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 …