Role of chromosome 1 pericentric heterochromatin (1q) in pathogenesis of myelodysplastic syndromes: Report of 2 new cases

Millington, Karmaine A.; Hudnall, S. David; Northup, Jill K.; Panova, Neli; Velagaleti, Gopalrao V.N.

doi:10.1016/j.yexmp.2007.10.003

Cited by 10 publications

(11 citation statements)

References 15 publications

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“…[1] Most likely heterochromatin loss or gain are not causative for acquired or inherited disorders, even though such relations still are discussed. [910]…”

Section: Discussionmentioning

confidence: 99%

Characterization of a rare short arm heteromorphism of chromosome 22 in a girl with down-syndrome like facies

Natiq

Elalaoui²,

Liehr³

et al. 2014

Indian J Hum Genet

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Chromosomal heteromorphisms are described as interindividual variation of chromosomes without phenotypic consequence. Chromosomal polymorphisms detected include most regions of heterochromatin of chromosomes 1, 9, 16 and Y and the short arms of all acrocentric chromosomes. Here, we report a girl with Down-syndrome such as facies and tremendously enlarged short arm of a chromosome 22. Fluorescence in situ hybridization (FISH) with a probe specific for all acrocentric short arms revealed that the enlargement p arms of the chromosome 22 in question contained exclusively heterochromatic material derived from an acrocentric short arm. Parental studies identified a maternal origin of this heteromorphism. Cryptic trisomy 21 of the Down-syndrome critical region was excluded by a corresponding FISH-probe. Here, we report, to the best of our knowledge, largest ever seen chromosome 22 short arm, being ~×1.5 larger than the normal long arm.

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“…[1] Most likely heterochromatin loss or gain are not causative for acquired or inherited disorders, even though such relations still are discussed. [910]…”

Section: Discussionmentioning

confidence: 99%

Characterization of a rare short arm heteromorphism of chromosome 22 in a girl with down-syndrome like facies

Natiq

Elalaoui²,

Liehr³

et al. 2014

Indian J Hum Genet

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“…Recently, we found that SSX proteins deplete PcG bodies in cancer cells and induce genomic instability [85,91]. This was an important observation, since 1q12 PCH is one of the most frequent sites of genomic breakage in cancer and is linked to the pathogenesis of this disease [60,62,63,66]. Further investigation showed that SSX proteins promote the unfolding and derepression of 1q12 PCH during replication [74] (Figure 1), which leads to segregation abnormalities during anaphase and generation of micronuclei.…”

Section: Ssx-mediated Derepression Of Pcg-silenced Heterochromatinmentioning

confidence: 96%

“…In cancers, satellite DNA of PCH is often demethylated [56][57][58], which in many cases leads to unfolding and transcriptional derepression of PCH, and thus PCH instability. Since PCH instability has been linked to the pathogenesis of multiple malignancies [59][60][61][62][63] and as PcG complex deposition might serve as a compensatory mechanism to repress PCH and possibly balance genomic stability upon global hypomethylation, it is of great importance to decipher the underlying mechanisms.…”

Section: The Role Of Pcg Complexes In Repression Of Pericentromeric Hmentioning

confidence: 99%

Interaction between Polycomb and SSX Proteins in Pericentromeric Heterochromatin Function and Its Implication in Cancer

Johansen

Gjerstorff

2020

Cells

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The stability of pericentromeric heterochromatin is maintained by repressive epigenetic control mechanisms, and failure to maintain this stability may cause severe diseases such as immune deficiency and cancer. Thus, deeper insight into the epigenetic regulation and deregulation of pericentromeric heterochromatin is of high priority. We and others have recently demonstrated that pericentromeric heterochromatin domains are often epigenetically reprogrammed by Polycomb proteins in premalignant and malignant cells to form large subnuclear structures known as Polycomb bodies. This may affect the regulation and stability of pericentromeric heterochromatin domains and/or the distribution of Polycomb factors to support tumorigeneses. Importantly, Polycomb bodies in cancer cells may be targeted by the cancer/testis-related SSX proteins to cause derepression and genomic instability of pericentromeric heterochromatin. This review will discuss the interplay between SSX and Polycomb factors in the repression and stability of pericentromeric heterochromatin and its possible implications for tumor biology.

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“…This possibility is supported by observations that unbalanced chromosome rearrangements frequently involve the fusion of the large constitutive heterochromatin regions of chromosomes. Therefore, it is likely, that larger constitutive heterochromatin chromosomes may be more at risk of centromeric instability and predisposed to chromosome breakage at the centromere (Caramazza et al, 2010;Millington et al, 2008).…”

Section: Etiologymentioning

confidence: 99%

1q translocations (unbalanced) in myeloid malignancies

Zámečnı́kova¹,

Al²

2013

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Role of chromosome 1 pericentric heterochromatin (1q) in pathogenesis of myelodysplastic syndromes: Report of 2 new cases

Cited by 10 publications

References 15 publications

Characterization of a rare short arm heteromorphism of chromosome 22 in a girl with down-syndrome like facies

Characterization of a rare short arm heteromorphism of chromosome 22 in a girl with down-syndrome like facies

Interaction between Polycomb and SSX Proteins in Pericentromeric Heterochromatin Function and Its Implication in Cancer

1q translocations (unbalanced) in myeloid malignancies

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