Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation

Maraschio, P; Zuffardi, Orsetta; Caiulo, A.; Dainotti, Eleonora; Piantanida, M.; Rivera, Horacio; Tupler, Rossella

doi:10.1007/bf00194222

Cited by 23 publications

(15 citation statements)

References 19 publications

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“…In addition, the proper folding of chromosomal DNA through the eentromere into a higher order chromatin structure is a prerequisite for a subunit repeat model proposed for the mammalian centromere-kinetochore complex (Zinkowski et al, 1991). It has also been reported that modification of the chromatin of one centromere on a dicentric Y chromosome leads to inactivation of this centromere (Maraschio et al, 1990), further supporting the idea that correct chromatin organization is essential for centromere function.…”

mentioning

confidence: 68%

A novel cis-acting centromeric DNA element affects S. pombe centromeric chromatin structure at a distance.

Marschall

Clarke

1995

The Journal of Cell Biology

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Abstract. The chromatin structure of the central core region of Schizosaccharomyces pombe centromeric DNA is unusual. This distinctive chromatin structure is associated only with central core sequences in a functional context and is modulated by a novel cisacting DNA element (centromere enhancer) within the functionally critical K centromeric repeat, which is found in multiple copies in all three S. pombe centromeres. The centromere enhancer alters central core chromatin structure from a distance and in an orientation-independent manner without altering the nucleosomal packaging of sequences between the enhancer and the central core. These findings suggest a functionally relevant structural interaction between the enhancer and the centromeric central core brought about by DNA looping.T rtE centromere is a specialized region of the eukaryotic chromosome that ensures the proper segregation of the chromosome during mitotic and meiotic cell divisions. The centromere functions in the context of a nucleoprotein complex to mediate attachment to the spindle and effect the movement of chromosomes along the spindle microtubules. This region also serves as a point of attachment for sister chromatids, ensuring their attachment in mitotic metaphase and throughout the first meiotic division.The centromeric DNAs of the fission yeast Schizosaccharomyces pombe are complex, span many kilobases (40-100 kb) of DNA, and are characterized by several classes of centromere-specific repeated DNA elements (Clarke et al., 1986;Nakaseko et al., 1986Nakaseko et al., , 1987. These regions do not appear to be transcribed into RNA (Fishel et al., 1988;Polizzi and Clarke, 1991), and are reminiscent of higher eukaryotic centromeric DNAs, which contain very large regions of heterochromatic, repetitive DNA sequences (Singer, 1982;Miklos, 1985). The structures of the centromeric DNAs of all three S. pombe chromosomes in several common laboratory strains have been well characterized; each contains a large inverted repeat motif composed of centromere-specific repeat elements designated K (or dg), L (or dh), B, and M, ranging in size from ,,ol-2 kb (B and M) to 5-6 kb (K and L), flanking a 4-7-kb central core (cc) that is chromosome specific (Fishel et al., 1988;

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mentioning

confidence: 68%

A novel cis-acting centromeric DNA element affects S. pombe centromeric chromatin structure at a distance.

Marschall

Clarke

1995

The Journal of Cell Biology

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“…Moreover, this term was earlier used to describe mosaic ring chromosome losses and gains (McDermott et al, 1977). Finally, previous observations have shown alterations to chromosome Y structure underlying the loss during mitotic cell division and, consequently, mosaicism formation (Haaf and Schmid, 1990;Maraschio et al, 1990;Hsu, 1994). Therefore, dynamic mosaicism is an appropriate term to describe intercellular karyotype variability in this case.…”

Section: Discussionmentioning

confidence: 99%

“…Copyright © 2008 S. Karger AG, Basel Chromosomal mosaicism is a consistent finding in cases of isodicentric Y chromosomes, which represent the most commonly-reported structural abnormality of the Y chromosome (Hsu, 1994;DesGroseilliers et al, 2006). This is usually attributed to the instability of rearranged Y chromosomes during cell division associated with centromere inactivation (Therman et al, 1986;Haaf and Schmid, 1990;Maraschio et al, 1990). As a result, a 45,X cell line coupled This work was partially supported by Philip Morris USA, Inc.…”

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confidence: 99%

Dynamic mosaicism manifesting as loss, gain and rearrangement of an isodicentric Y chromosome in a male child with growth retardation and abnormal external genitalia

Iourov

Sg²,

Liehr

et al. 2008

Cytogenet Genome Res

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Isodicentric chromosomes are considered the most common structural abnormality of the human Y chromosome. Because of their instability during cell division, loss of an isodicentric Y seems mainly to lie at the origin of mosaicism in previously reported patients with a 45,X cell line. Here, we report on a similar case, which, however, turned out to be an example of dynamic mosaicism involving isodicentric chromosome Y and isochromosome Y after FISH with a set of chromosome Y-specific probes and multicolor banding. Cytogenetic analyses (GTG-, C-, and Q-banding) have shown three different cell lines: 45,X/46, X,idic(Y)(q12)/46,X,+mar. The application of molecular cytogenetic techniques established the presence of four cell lines: 45,X (48%), 46,X,idic(Y)(q11.23) (42%), 46,X,i(Y)(p10) (6%) and 47,X,idic(Y)(q11.23),+idic(Y)(q11.23) (4%). According to the available literature, this is the first case of dynamic mosaicism with up to four different cell lines involving loss, gain, and rearrangement of an idic(Y)(q11.23). The present report indicates that cases of mosaicism involving isodicentric and isochromosome Ys can be more dynamic in terms of somatic intercellular variability that probably has an underappreciated effect on the phenotype.

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“…those lacking a primary constriction at mitosis, can be found in dicentric chromosomes, which thus evade the breakage-fusion-bridge cycle (McClintock 1938). Rearrangements of the DNA have been detected at a small proportion of such inactive centromeres, including large cytogenetically visible deletions (Vianna-Morgante and Rosenberg 1986) and smaller deletions detectable by in situ hybridisation (Maraschio et al 1990) or molecular analysis . However, no change to the DNA could be detected at most inactive centromeres (TylerSmith et al 1993).…”

Section: Introductionmentioning

confidence: 98%

Centromeric inactivation in a dicentric human Y;21 translocation chromosome

et al. 1997

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A de novo dicentric Y;21 (q11.23;p11) translocation chromosome with one of its two centromeres inactive has provided the opportunity to study the relationship between centromeric inactivation, the organization of alphoid satellite DNA and the distribution of CENP-C. The proband, a male with minor features of Down's syndrome, had a major cell line with 45 chromosomes including a single copy of the translocation chromosome, and a minor one with 46 chromosomes including two copies of the translocation chromosome and hence effectively trisomic for the long arm of chromosome 21. Centromeric activity as defined by the primary constriction was variable: in most cells with a single copy of the Y;21 chromosome, the Y centromere was inactive. In the cells with two copies, one copy had an active Y centromere (chromosome 21 centromere inactive) and the other had an inactive Y centromere (chromosome 21 centromere active). Three different partial deletions of the Y alphoid array were found in skin fibroblasts and one of these was also present in blood. Clones of single cell origin from fibroblast cultures were analysed both for their primary constriction and to characterise their alphoid array. The results indicate that (1) each clone showed a fixed pattern of centromeric activity; (2) the alphoid array size was stable within a clone; and (3) inactivation of the Y centromere was associated with both full-sized and deleted alphoid arrays. Selected clones were analysed with antibodies to CENP-C, and staining was undetectable at both intact and deleted arrays of the inactive Y centromeres. Thus centromeric inactivation appears to be largely an epigenetic event.

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Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation

Cited by 23 publications

References 19 publications

A novel cis-acting centromeric DNA element affects S. pombe centromeric chromatin structure at a distance.

A novel cis-acting centromeric DNA element affects S. pombe centromeric chromatin structure at a distance.

Dynamic mosaicism manifesting as loss, gain and rearrangement of an isodicentric Y chromosome in a male child with growth retardation and abnormal external genitalia

Centromeric inactivation in a dicentric human Y;21 translocation chromosome

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