Paternally derived der(7)t(Y;7)(p11.1∼11.2;p22.3)dn in a mosaic case with Turner syndrome

Polityko, A; Хурс, О. М.; Kulpanovich, Anna; Mosse, K. A.; Solntsava, A. V.; Rumyantseva, Natalia; Наумчик, И.В.; Liehr, Thomas; Weise, Anja; Mkrtchyan, Hasmik

doi:10.1016/j.ejmg.2009.03.016

Cited by 8 publications

(5 citation statements)

References 13 publications

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“…Uniparental disomy 7 was excluded for both cell lines and the result was confirmed by microsatellite analysis. Surprisingly, der(7) was found to be identical to that of the normal paternally inherited chromosome 7 in the cell line 45,X by pod-FISH, which was also confirmed with microsatellites [7]. Therefore, the evolution of that karyotype could be reconstructed (Figure 1B).…”

Section: Introductionmentioning

confidence: 55%

“…However, we have found not only interindividual differences, as expected, but also intraindividual differences in the signal intensities of polymorphic BAC probes. Thus, in a woman with Turner syndrome and the mosaic karyotype 45,X,der(7)t(Y;7)(p11.1∼11.2;p22.3)[122]/45,X[48], pod-FISH determined the parental origin of the normal and derivative chromosomes 7 with two BACs (RP11-533E18 and RP11-45N9) of the 15 BACs tested [7] (Table 1 and Figure 1A). Uniparental disomy 7 was excluded for both cell lines and the result was confirmed by microsatellite analysis.…”

Section: Introductionmentioning

confidence: 99%

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Early Embryonic Chromosome Instability Results in Stable Mosaic Pattern in Human Tissues

et al. 2010

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The discovery of copy number variations (CNV) in the human genome opened new perspectives on the study of the genetic causes of inherited disorders and the aetiology of common diseases. Here, a single-cell-level investigation of CNV in different human tissues led us to uncover the phenomenon of mitotically derived genomic mosaicism, which is stable in different cell types of one individual. The CNV mosaic ratios were different between the 10 individuals studied. However, they were stable in the T lymphocytes, immortalized B lymphoblastoid cells, and skin fibroblasts analyzed in each individual. Because these cell types have a common origin in the connective tissues, we suggest that mitotic changes in CNV regions may happen early during embryonic development and occur only once, after which the stable mosaic ratio is maintained throughout the differentiated tissues. This concept is further supported by a unique study of immortalized B lymphoblastoid cell lines obtained with 20 year difference from two subjects. We provide the first evidence of somatic mosaicism for CNV, with stable variation ratios in different cell types of one individual leading to the hypothesis of early embryonic chromosome instability resulting in stable mosaic pattern in human tissues. This concept has the potential to open new perspectives in personalized genetic diagnostics and can explain genetic phenomena like diminished penetrance in autosomal dominant diseases. We propose that further genomic studies should focus on the single-cell level, to better understand the aetiology of aging and diseases mediated by somatic mutations.

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Section: Introductionmentioning

confidence: 55%

Section: Introductionmentioning

confidence: 99%

Early Embryonic Chromosome Instability Results in Stable Mosaic Pattern in Human Tissues

et al. 2010

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“…Thus, in a woman with Turner syndrome and the mosaic karyotype 45,X,der(7)t(Y;7)(p11.1~11.2;p22.3)[122]/45,X[48], pod-FISH assessed the parental origin of the normal and derivative chromosomes 7 with two BACs (RP11-533E18 and RP11-45N9) of the 15 BACs tested [24]. Uniparental disomy 7 was excluded for both cell lines and the result was confirmed by microsatellite analysis.…”

Section: Recent New Insightsmentioning

confidence: 99%

“…Uniparental disomy 7 was excluded for both cell lines and the result was confirmed by microsatellite analysis. The pod-FISH results for this individual revealed the presence of different clonal cell lines within one tissue with respect to the investigated CNV [24]. …”

Section: Recent New Insightsmentioning

confidence: 99%

The Human Genome Puzzle — the Role of Copy Number Variation in Somatic Mosaicism

Mkrtchyan

Groß²,

Hinreiner³

et al. 2010

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The discovery of copy number variations (CNV) in the human genome opened new perspectives in the study of the genetic causes of inherited disorders and the etiology of common diseases. Differently patterned instances of somatic mosaicism in CNV regions have been shown to be present in monozygotic twins and throughout different tissues within an individual. A single-cell-level investigation of CNV in different human cell types led us to uncover mitotically derived genomic mosaicism, which is stable in different cell types of one individual. A unique study of immortalized B-lymphoblastoid cell lines obtained with 20 year interval from the same two subjects shows that mitotic changes in CNV regions may happen early during embryonic development and seem to occur only once, as levels of mosaicism remained stable. This finding has the potential to change our concept of dynamic human genome variation. We propose that further genomic studies should focus on the single-cell level, to understand better the etiology and physiology of aging and diseases mediated by somatic variations.

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“…During the last decades, numerous mFISH approaches have been developed (Liehr 2012a): M-FISH/SKY is able to characterize the origin and/or composition of larger euchromatic-derivative chromosomes (Speicher et al 1996; Schröck et al 1996); cenM-FISH can identify the chromosomal origin of sSMC (Nietzel et al 2001); FISH banding and the use of locus-specific probes enable a better breakpoint characterization than banding cytogenetics (Weise et al 2002; Manvelyan et al 2007); and POD-FISH is able to determine the parental origin of derivative chromosomes on a single cell level (Polityko et al 2009). Even though there were already probe sets specific for some of the large heterochromatic human chromosomal regions, like pericentromere of chromosome 9 (Starke et al 2002), or short arms of all acrocentric chromosomes (Trifonov et al 2003), no probe set was available up to now that was directed against all of them.…”

Section: Discussionmentioning

confidence: 99%

A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin

Bucksch

Ziegler

Kosayakova

et al. 2012

J Histochem Cytochem.

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SummaryA new multicolor fluorescence in situ hybridization (mFISH) probe set is presented, and its possible applications are highlighted in 25 clinical cases. The so-called heterochromatin-M-FISH (HCM-FISH) probe set enables a one-step characterization of the large heterochromatic regions within the human genome. HCM-FISH closes a gap in the now available mFISH probe sets, as those do not normally cover the acrocentric short arms; the large pericentric regions of chromosomes 1, 9, and 16; as well as the band Yq12. Still, these regions can be involved in different kinds of chromosomal rearrangements such as translocations, insertions, inversions, amplifications, and marker chromosome formations. Here, examples are given for all these kinds of chromosomal aberrations, detected as constitutional rearrangements in clinical cases. Application perspectives of the probe set in tumors as well as in evolutionary cytogenetic studies are given. (J Histochem Cytochem 60:530-536, 2012) Keywords multicolor fluorescence in situ hybridization (mFISH), heterochromatin-M-FISH (HCM-FISH) probe set, heteromorphism, small supernumerary marker chromosome (sSMC), insertion, translocation Article

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Paternally derived der(7)t(Y;7)(p11.1∼11.2;p22.3)dn in a mosaic case with Turner syndrome

Cited by 8 publications

References 13 publications

Early Embryonic Chromosome Instability Results in Stable Mosaic Pattern in Human Tissues

Early Embryonic Chromosome Instability Results in Stable Mosaic Pattern in Human Tissues

The Human Genome Puzzle — the Role of Copy Number Variation in Somatic Mosaicism

A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin

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Paternally derived der(7)t(Y;7)(p11.1∼11.2;p22.3)dn in a mosaic case with Turner syndrome

Cited by 8 publications

References 13 publications

Early Embryonic Chromosome Instability Results in Stable Mosaic Pattern in Human Tissues

Early Embryonic Chromosome Instability Results in Stable Mosaic Pattern in Human Tissues

The Human Genome Puzzle &#x2014; the Role of Copy Number Variation in Somatic Mosaicism

A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin

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The Human Genome Puzzle — the Role of Copy Number Variation in Somatic Mosaicism