Labeling of the centromeric region on human chromosome 8 by in situ hybridization

Weier, Heinz-Ulrich; Kleine, Hans Dieter; Gray, Joe W.

doi:10.1007/bf00197174

Cited by 41 publications

(33 citation statements)

References 28 publications

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“…In both instances, the fraction of aneuploid CTBs increases with gestational age, but does not appear to exert a detrimental effect on the organism. This is in contrast to reports of genomic variations in other organs such as the reproductive system, the human brain or in hematological disorders [44,[53][54][55][56], where an association between aneuploidy and disease could be established [54,[56][57][58]. While it seems that all human tissues are affected by somatic genomic variations [59], albeit to a greatly varying extent, aneuploidy might be missed when present in rare cells [60,61].…”

Section: Discussioncontrasting

confidence: 77%

“…In our experiments, we applied a variety of nonisotopically labeled DNA either prepared in-house [43][44][45][46][47] or obtained commercially (Abbott Molecular, Downers Grove, IL). With few exceptions, probes used in our studies were either DNA repeat probes or locus-specific DNA probes [48][49][50][51].…”

Section: Multicolor Fish and Karyotype Analysis Of Interphase Cellsmentioning

confidence: 99%

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Somatic genomic variations in extra-embryonic tissues

Weier¹,

Ferlatte²,

Weier³

2010

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Abstract:In the mature chorion, one of the membranes that exist during pregnancy between the developing fetus and mother, human placental cells form highly specialized tissues composed of mesenchyme and floating or anchoring villi. Using fluorescence in situ hybridization, we found that human invasive cytotrophoblasts isolated from anchoring villi or the uterine wall had gained individual chromosomes; however, chromosome losses were detected infrequently. With chromosomes gained in what appeared to be a chromosomespecific manner, more than half of the invasive cytotrophoblasts in normal pregnancies were found to be hyperdiploid. Interestingly, the rates of hyperdiploid cells depended not only on gestational age, but were strongly associated with the extraembryonic compartment at the fetal-maternal interface from which they were isolated. Since hyperdiploid cells showed drastically reduced DNA replication as measured by bromodeoxyuridine incorporation, we conclude that aneuploidy is a part of the normal process of placentation potentially limiting the proliferative capabilities of invasive cytotrophoblasts. Thus, under the special circumstances of human reproduction, somatic genomic variations may exert a beneficial, anti-neoplastic effect on the organism.

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Section: Discussioncontrasting

confidence: 77%

Section: Multicolor Fish and Karyotype Analysis Of Interphase Cellsmentioning

confidence: 99%

Somatic genomic variations in extra-embryonic tissues

Weier¹,

Ferlatte²,

Weier³

2010

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“…Arrayed Centre d'É tude du Polymorphisme Humain (CEPH) (Paris) YAC library clones were screened with a 32 P-labeled PCR product derived by amplification of human genomic DNA with degenerate alpha satellite primers WA1 and WA2 (22). Clones with strong hybridization signals were characterized further by pulsed-field gel electrophoresis and Southern hybridization.…”

Section: Methodsmentioning

confidence: 99%

Human artificial chromosomes generated by modification of a yeast artificial chromosome containing both human alpha satellite and single-copy DNA sequences

Henning

Novotny

Compton

et al. 1999

Proc. Natl. Acad. Sci. U.S.A.

110

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A human artificial chromosome (HAC) vector was constructed from a 1-Mb yeast artificial chromosome (YAC) that was selected based on its size from among several YACs identified by screening a randomly chosen subset of the Centre d'Étude du Polymorphisme Humain (CEPH) (Paris) YAC library with a degenerate alpha satellite probe. This YAC, which also included non-alpha satellite DNA, was modified to contain human telomeric DNA and a putative origin of replication from the human ␤-globin locus. The resultant HAC vector was introduced into human cells by lipidmediated DNA transfection, and HACs were identified that bound the active kinetochore protein CENP-E and were mitotically stable in the absence of selection for at least 100 generations. Microdissected HACs used as f luorescence in situ hybridization probes localized to the HAC itself and not to the arms of any endogenous human chromosomes, suggesting that the HAC was not formed by telomere fragmentation. Our ability to manipulate the HAC vector by recombinant genetic methods should allow us to further define the elements necessary for mammalian chromosome function.As the time rapidly approaches when the complete sequence of a human chromosome will be known, it is striking how little is known about how human chromosomes function. In contrast, the necessary elements for chromosomal function in yeast have been defined for several years. Three important elements appear to be required for the mitotic stability of linear chromosomes: centromeres, telomeres, and origins of replication. The ascertainment of these elements in Saccharomyces cerevisiae provided the basis for the construction of yeast artificial chromosomes (YACs), which have proven to be important tools both for the study of yeast chromosomal function and as large capacity cloning vectors (1-3).

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“…Centromeres of all human chromosomes were detected by FISH with alpha satellite-DNA sequences (pan-centromeric probe), as obtained by alphoid-specific PCR from genomic human DNA (Weier et al 1991) and were labeled with Cy3-dUTP by random priming. All chromosome telomeres were detected after applying FISH with an Fluorescien (FITC)-conjugated (CCCTAA 3 ) peptide nucleic acid (PNA) telomere probe (DAKO, Glostrup, Denmark; pan-telomeric probe).…”

Section: Dna Probes and Labelingmentioning

confidence: 99%

Chromosome 18 pairing behavior in human trisomic oocytes. Presence of an extra chromosome extends bouquet stage

Roig

Robles²,

Garcia³

et al. 2005

Reproduction

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Little is known about the first meiotic prophase stages in the human female because these occur during fetal life, and only a few studies have addressed aneuploid human oocytes. In this paper, the synaptic process in the meiotic prophase in three 47, XX 1 18 cases is analyzed. A complete study of the dynamics of centromeres and telomeres, cohesin core and synapsis development in aneuploid female meiosis was performed. Investigation of chromosome dynamics in prophase of trisomy 18 oocytes show that these events follow the major patterns seen earlier in euploid oocytes. However, there is a significant delay in the resolution of bouquet topology which could relate to the presence of a surplus chromosome 18 axial element in zygotene oocytes. Pachytene oocytes displayed normal synapsis among the three chromosome 18s. However, in some oocytes the surplus chromosome 18 core was aligned to the bivalent 18. As ataxia telangiectasia and Rad3 related kinase (ATR) has been described as a marker for late-pairing chromosomes in mice, ATR distribution was analyzed in human meiocytesspermatocytes, euploid oocytes and trisomic oocytes. In contrast to the observations made in mice, no preferential staining for late-pairing chromosomes was observed in humans. In the cases studied, bivalent synapses progressed as in a normal ovary, contrasting with the hypothesis that a surplus chromosome can modify pairing of other chromosomes.

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Labeling of the centromeric region on human chromosome 8 by in situ hybridization

Cited by 41 publications

References 28 publications

Somatic genomic variations in extra-embryonic tissues

Somatic genomic variations in extra-embryonic tissues

Human artificial chromosomes generated by modification of a yeast artificial chromosome containing both human alpha satellite and single-copy DNA sequences

Chromosome 18 pairing behavior in human trisomic oocytes. Presence of an extra chromosome extends bouquet stage

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