PMID- 31933061
OWN - NLM
STAT- MEDLINE
DCOM- 20210609
LR  - 20231103
IS  - 1573-6849 (Electronic)
IS  - 0967-3849 (Print)
IS  - 0967-3849 (Linking)
VI  - 28
IP  - 1
DP  - 2020 Mar
TI  - Cellular and genomic approaches for exploring structural chromosomal 
      rearrangements.
PG  - 19-30
LID - 10.1007/s10577-020-09626-1 [doi]
AB  - Human chromosomes are arranged in a linear and conserved sequence order that 
      undergoes further spatial folding within the three-dimensional space of the 
      nucleus. Although structural variations in this organization are an important 
      source of natural genetic diversity, cytogenetic aberrations can also underlie a 
      number of human diseases and disorders. Approaches for studying chromosome 
      structure began half a century ago with karyotyping of Giemsa-banded chromosomes 
      and has now evolved to encompass high-resolution fluorescence microscopy, 
      reporter-based assays, and next-generation DNA sequencing technologies. Here, we 
      provide a general overview of experimental methods at different resolution and 
      sensitivity scales and discuss how they can be complemented to provide 
      synergistic insight into the study of human chromosome structural rearrangements. 
      These approaches range from kilobase-level resolution DNA fluorescence in situ 
      hybridization (FISH)-based imaging approaches of individual cells to genome-wide 
      sequencing strategies that can capture nucleotide-level information from diverse 
      sample types. Technological advances coupled to the combinatorial use of multiple 
      methods have resulted in the discovery of new rearrangement classes along with 
      mechanistic insights into the processes that drive structural alterations in the 
      human genome.
FAU - Hu, Qing
AU  - Hu Q
AD  - Department of Pathology, Department of Cell Biology, Harold C. Simmons 
      Comprehensive Cancer Center, University of Texas Southwestern Medical Center, 
      Dallas, TX, USA.
FAU - Maurais, Elizabeth G
AU  - Maurais EG
AD  - Department of Pathology, Department of Cell Biology, Harold C. Simmons 
      Comprehensive Cancer Center, University of Texas Southwestern Medical Center, 
      Dallas, TX, USA.
FAU - Ly, Peter
AU  - Ly P
AUID- ORCID: 0000-0001-8946-7069
AD  - Department of Pathology, Department of Cell Biology, Harold C. Simmons 
      Comprehensive Cancer Center, University of Texas Southwestern Medical Center, 
      Dallas, TX, USA. peter.ly@utsouthwestern.edu.
LA  - eng
GR  - R00 CA218871/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20200113
PL  - Netherlands
TA  - Chromosome Res
JT  - Chromosome research : an international journal on the molecular, supramolecular 
      and evolutionary aspects of chromosome biology
JID - 9313452
SB  - IM
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Comparative Genomic Hybridization
MH  - Cytogenetics/*methods
MH  - Genomics/*methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Sequence Analysis, DNA
MH  - Translocation, Genetic
PMC - PMC7131874
MID - NIHMS1549507
OTO - NOTNLM
OT  - Chromosome rearrangements
OT  - Cytogenetics
OT  - FISH
OT  - Genome instability
OT  - Karyotype
OT  - Structural variants
EDAT- 2020/01/15 06:00
MHDA- 2021/06/10 06:00
PMCR- 2021/03/01
CRDT- 2020/01/15 06:00
PHST- 2019/10/18 00:00 [received]
PHST- 2020/01/01 00:00 [accepted]
PHST- 2019/12/20 00:00 [revised]
PHST- 2020/01/15 06:00 [pubmed]
PHST- 2021/06/10 06:00 [medline]
PHST- 2020/01/15 06:00 [entrez]
PHST- 2021/03/01 00:00 [pmc-release]
AID - 10.1007/s10577-020-09626-1 [pii]
AID - 10.1007/s10577-020-09626-1 [doi]
PST - ppublish
SO  - Chromosome Res. 2020 Mar;28(1):19-30. doi: 10.1007/s10577-020-09626-1. Epub 2020 
      Jan 13.