Chromosome distribution in human sperm – a 3D multicolor banding-study

Manvelyan, Marina; Hunstig, Friederike; Bhatt, Samarth; Mrasek, Kristin; Pellestor, Franck; Weise, Anja; Simonyan, Isabella; Aroutiounian, Rouben; Liehr, Thomas

doi:10.1186/1755-8166-1-25

Cited by 77 publications

(108 citation statements)

References 31 publications

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“…The position of chromosome 8 in BM cells and peripheral blood-lymphocytes is in concordance with the data of our previous study determined in haploid human sperm [4]. The additional chromosome in trisomy 8 was located in periphery rather than central.…”

Section: Resultssupporting

confidence: 80%

“…here chromosomes) occupy preferential positions within the nucleus which are called 'chromosome territories' [1][2][3]. Chromosome size and density of the genes within a chromosome are discussed to have an impact on the nuclear position of chromosomes [4]. Furthermore, non-random positioning in interphase nuclei is known to be of importance for genomic stability and formation of chromosome aberrations.…”

Section: Introductionmentioning

confidence: 99%

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Does positioning of chromosomes 8 and 21 in interphase drive t(8;21) in acute myelogenous leukemia?

Lier¹,

Junker²,

Kempf³

et al. 2012

Biodiscovery

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The impact of chromosome architecture in the formation of chromosome aberrations is a recent finding of interphase directed molecular cytogenetic studies. There evidence was provided that disease specific chromosomal translocations could be due to tissue specific genomic organization. In a recent small pilot study using three-dimensional interphase fluorescence in situ hybridization, we showed that there might be a specific chromosome positioning in myeloid bone marrow cells, i.e. a co-localization of chromosomes 8 and 21. Here we could substantiate this finding in overall 21 studied cases with acute myeloid leukemia (AML) that there is even a co-localization of the genes AML1 and ETO. This finding led to the suggestion that a specific interphase architecture of myeloid bone marrow cells might promote the typical t(8;21)(q22;q22) leading to AML-M2.

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Section: Resultssupporting

confidence: 80%

Section: Introductionmentioning

confidence: 99%

Does positioning of chromosomes 8 and 21 in interphase drive t(8;21) in acute myelogenous leukemia?

Lier¹,

Junker²,

Kempf³

et al. 2012

Biodiscovery

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“…Indeed, in human sperm, chromosomes occupy defined preferred intranuclear positions [7,10,38]. Paternal genome is activated early after fertilization, during S/G2 phase of the first cell cycle i.e.…”

Section: Discussionmentioning

confidence: 99%

Kinetics of human male pronuclear development in a heterologous ICSI model

Jones

Mudrak

Zalensky

2010

J Assist Reprod Genet

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Purpose To evaluate human sperm nuclear chromatin decondensation in a heterologous ICSI system using hamster ova injected with human sperm. Materials and methods Frozen hamster oocytes were injected with Triton X-100 treated sperm and fixed at different time points post ICSI. Oocytes injected with nontreated sperm served as controls. Male pronuclear decondensation was evaluated after staining with DAPI. Results Sperm cells with partially destroyed membranes and depletion of the acrosome decondense more rapidly and to a greater extent than membrane/acrosome intact cells. Marked variability in pronuclear size was observed for any time point post ICSI, which most probably reflects the heterogeneity in the mature human sperm population. Conclusion Remodeling of male gamete nuclei in this heterologous ICSI mimics events that occur during natural fertilization in humans and therefore this approach may be used for studies of human sperm chromosomes transformations.

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“…Its application allows the analysis of chromosome (chromosomal loci) positioning in interphase and chromosomal associations at "subchromosomal" resolution in a given nucleus (for more details see [4][5][6][7][8][9]). Evidently, analyzing each chromosomal region is likely to provide more reliable information in contrast to analyzing homogenously painted chromosomes or a single chromosomal region.…”

Section: Visualizing Interphase Chromosomesmentioning

confidence: 99%

“…To solve this problem, a technique providing for simultaneous visualization of the whole chromosome and its regions in a given nucleus has appeared to be required [3]. The development of interphase chromosome-specific multicolor banding (ICS-MCB) has led the way towards the high-resolution interphase cytogenetic analysis for Visualization of interphase chromosomes studying chromosomal numbers, structure and spatial arrangement within the nucleus [4][5][6][7]. Using ICS-MCB, chromosome architecture was evaluated in some tissues at "subchromosomal" resolution and specific positioning of chromosomal loci was shown to be linked to generation and behavior of rearranged chromosomes in interphase [8][9][10].…”

Section: Introductionmentioning

confidence: 99%

To see an interphase chromosome or: How a disease can be associated with specific nuclear genome organization

Iourov¹

2012

Biodiscovery

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The last hierarchical level of cellular genome organization is the spatial arrangement of chromosomes within the nuclear space. Despite of high regulatory potential and functional implications, issues concerning nuclear organization at chromosomal level are rarely addressed because of limitations in visualizing interphase chromosomes. The problem is especially seen when an attempt to associate specific patterns of nuclear genome organization with a pathological condition is made. Fortunately, advances in molecular cytogenetics have provided for a solution to visualize chromosomes in interphase nuclei at molecular resolution. A study in this issue of BioDiscovery shows the way of how to identify interphase chromosome architecture at molecular resolutions and demonstrates the involvement of specific nuclear genome organization in generating a cancercausing chromosomal aberration (translocation between chromosomes 8 and 21 in acute myelogenous leukemia). Authors' findings suggest interphase molecular cytogenetic techniques (i.e. interphase chromosome-specific multicolor banding or ICS-MCB) to be required to perform studies regarding nuclear genome organization at chromosomal level and its role in disease pathogenesis.

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Chromosome distribution in human sperm – a 3D multicolor banding-study

Cited by 77 publications

References 31 publications

Does positioning of chromosomes 8 and 21 in interphase drive t(8;21) in acute myelogenous leukemia?

Does positioning of chromosomes 8 and 21 in interphase drive t(8;21) in acute myelogenous leukemia?

Kinetics of human male pronuclear development in a heterologous ICSI model

To see an interphase chromosome or: How a disease can be associated with specific nuclear genome organization

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