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. 2015 Jun 29;25(13):R538-42.
doi: 10.1016/j.cub.2015.05.010.

Aneuploidy

Bernardo Orr  1 , Kristina M Godek  1 , Duane Compton  2
Affiliations

Aneuploidy

Bernardo Orr et al. Curr Biol. .

Abstract

The terms 'haploid' and 'diploid' that describe single (n) and double (2n) chromosome sets in cells were coined by the Polish-German botanist Eduard Strasburger and originate from the Greek terms haplóos meaning 'single' and diplóos meaning 'double'. The term 'ploidy' was subsequently derived to describe the total chromosome content of cells. Consequently, the term 'euploid' refers to a chromosome complement that is an exact multiple of the haploid number. Therefore, haploids and diploids are both cases of normal euploidy. Euploid types that have more than two sets of chromosomes are 'polyploid' such as 'triploid' (3n), 'tetraploid' (4n), 'pentaploid' (5n), and so forth. There are various natural euploid states with some organisms existing as haploids (fungi), diploids (most mammals), and polyploids (plants).

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Figures

Figure 1
Figure 1. Constitutional, somatic, and structural karyotypes
(A) Spectral karyotype of a normal human diploid cell with 46 chromosomes (courtesy of National Human Genome Research Institute http://www.genome.gov). (B) G-band karyotype of a female with Down syndrome illustrating constitutional aneuploidy. All cells in this individual have 47 chromosomes with trisomy 21 (reprinted from Antonarakis et al. 2004 by permission from Macmillan Publishers Ltd: Nat. Rev. Genet. © 2004). (C) Two G-band karyotypes from an individual with mosaic variegated aneuploidy (MVA) demonstrating somatic aneuploidy. These lymphoblastoid cells have distinct whole chromosome losses and gains exemplifying the mosaic aneuploidies of MVA (reprinted from Hanks et al. 2004 by permission from Macmillan Publishers Ltd: Nat. Genet. © 2004). (D) Spectral karyotypes of glioblastoma derived U251 cells. These cells are from the same culture but have unique whole chromosome and structural aneuploidies due to chromosomal instability (from Thompson et al. 2011, with kind permission from Springer Science and Business Media).
Figure 2
Figure 2. Mechanisms that generate aneuploidy
Schematic representation of the cellular mechanisms that generate whole chromosomal aneuploidy and structural aneuploidy, or both. Bi-directional arrows illustrate that structural aneuploidy may cause whole chromosome aneuploidy and vice versa, through dysregulation of cell signaling pathways that are important for the maintenance of genomic stability. The same is true for the formation of merotelic k-MT attachments and the induction of tetraploidy. The formation of multipolar spindles during mitosis as a result of tetraploidy promotes the formation of merotelic k-MT attachments, which in turn causes whole chromosome mis-segregation, potentially leading to dysregulated centrosome duplication and tetraploidy.
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References

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