Changes in chromosome positioning may contribute to the development of diseases related to X‐chromosome aneuploidy

Petrova, N. V.; Yakutenko, Irina I.; Alexeevski, Andrei V.; Verbovoy, Valentin A.; Razin, Sergey V.; Iarovaia, Olga V.

doi:10.1002/jcp.21118

Cited by 13 publications

(10 citation statements)

References 30 publications

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“…The X chromosome shows a strong peripheral positioning, as reported previously (Belmont et al, 1986;Nagele et al, 1999;Bolzer et al, 2005;Petrova et al, 2007) ( Figure 4C). With increasing X copy number, the positioning of the entire population of X chromosome becomes slightly more peripheral, due to the presence of the additional Xi chromosomes, which tend to be more peripheral than the Xa ( Figure 4C) (Belmont et al, 1986;Chen et al, 2016).…”

Section: Spatial Positioning Of Chromosomes X Y and 18 In Sca Nucleisupporting

confidence: 87%

Effects of Human Sex Chromosome Dosage on Spatial Chromosome Organization

Jowhar¹,

Shachar²,

Gudla³

et al. 2018

Preprint

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Sex chromosome aneuploidies (SCAs) are common genetic syndromes characterized by the presence of an aberrant number of X and Y chromosomes due to meiotic defects. These conditions impact structure and function of diverse tissues, but the proximal effects of SCA on genome organization are unknown. Here, to determine the consequences of SCAs on global genome organization, we have analyzed multiple architectural features of chromosome organization in a comprehensive set of primary cells from SCA patients with various ratios of X and Y chromosomes by use of imagingbased high-throughput Chromosome Territory Mapping (HiCTMap). We find that X chromosome supernumeracy does not affect the size, volume or nuclear position of the Y chromosome or an autosomal chromosome. In contrast, the active X chromosome undergoes architectural changes as a function of increasing X copy number, as measured by a decrease in size and an increase in circularity, which is indicative of chromatin compaction. With Y chromosome supernumeracy, Y chromosome size is reduced suggesting higher chromatin condensation. The radial positioning of chromosomes is unaffected in SCA karyotypes. Taken together, these observations document changes in genome architecture in response to alterations in sex chromosome numbers and point to trans-effects of dosage compensation on chromosome organization.

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Section: Spatial Positioning Of Chromosomes X Y and 18 In Sca Nucleisupporting

confidence: 87%

Effects of Human Sex Chromosome Dosage on Spatial Chromosome Organization

Jowhar¹,

Shachar²,

Gudla³

et al. 2018

Preprint

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“…Spatial reorganization of the genome has previously been linked to cancer and genomic instability (Cremer et al, 2003;Taslerová et al, 2003Taslerová et al, , 2006Murmann et al, 2005;Wiech et al, 2005Wiech et al, , 2009Petrova et al, 2007;Sengupta et al, 2007;Meaburn and Misteli, 2008). With the exceptions of a few chromosomal translocations, however, the previously described cancerassociated spatial genome repositioning events are relatively minor and often involve large genome regions (Cremer et al, 2003;Wiech et al, 2005;Meaburn and Misteli, 2008;Wiech et al, 2009).…”

Section: Repositioning Of Gene Combinationsmentioning

confidence: 99%

Disease-specific gene repositioning in breast cancer

Meaburn¹,

Gudla²,

Khan³

et al. 2009

J Exp Med

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“…In addition, several studies have highlighted that certain translocations could be generated due to close proximity of the chromosomes involved. Petrova et al [2007] analysed the position of chromosome X and 1 in human cells having 1 copy and 4 copies of the X chromosome, respectively. In the polysomic cells (XXXY) the active X appears to be closer to the nuclear periphery than in normal XY cells.…”

Section: Chromosome Territories and Nuclear Organizationmentioning

confidence: 99%

Male Fertility, Chromosome Abnormalities, and Nuclear Organization

Ioannou¹,

Griffin²

2010

Cytogenet Genome Res

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Numerous studies have implicated the role of gross genomic rearrangements in male infertility, e.g., constitutional aneuploidy, translocations, inversions, Y chromosome deletions, elevated sperm disomy, and DNA damage. The primary purpose of this paper is to review male fertility studies associated with such abnormalities. In addition, we speculate whether altered nuclear organization, another chromosomal/whole genome-associated phenomenon, is also concomitant with male factor infertility. Nuclear organization has been studied in a range of systems and implicated in several diseases. For many applications the measurement of the relative position of chromosome territories is sufficient to determine patterns of nuclear organization. Initial evidence has suggested that, unlike in the more usual ‘size-related’ or ‘gene density-related’ models, mammalian (including human) sperm heads display a highly organized pattern including a chromocenter with the centromeres located to the center of the nucleus and the telomeres near the periphery. More recent evidence, however, suggests there may be size- and gene density-related components to nuclear organization in sperm. It seems reasonable to hypothesize therefore that alterations in this pattern may be associated with male factor infertility. A small handful of studies have addressed this issue; however, to date it remains an exciting avenue for future research with possible implications for diagnosis and therapy.

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Changes in chromosome positioning may contribute to the development of diseases related to X‐chromosome aneuploidy

Cited by 13 publications

References 30 publications

Effects of Human Sex Chromosome Dosage on Spatial Chromosome Organization

Effects of Human Sex Chromosome Dosage on Spatial Chromosome Organization

Disease-specific gene repositioning in breast cancer

Male Fertility, Chromosome Abnormalities, and Nuclear Organization

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