An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite

Bukvić, Nenad; Susca, Francesco; Gentile, Mattia; Tangari, Emanuele; Ianniruberto, A; Guanti, Ginevra

doi:10.1007/bf02267065

Cited by 42 publications

(20 citation statements)

References 22 publications

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“…Three examples of PD-NC have been described for the human Y chromosome (23)(24)(25). However, our PD-NC4 case differs from these PD-NCY cases in a number of significant ways.…”

Section: Discussionmentioning

confidence: 79%

“…However, our PD-NC4 case differs from these PD-NCY cases in a number of significant ways. First, the PD-NC4 is 100% stable in mitosis, whereas mitotic instability of the three PD-NCY chromosomes was evidenced by their detection in 60-99% (23), 5% (24), and 84-95% (25) of cells examined. Second, PD-NCY formation seems to involve chromosomal rearrangement in the form of inversion or partial deletion of ␣-satellite DNA.…”

Section: Discussionmentioning

confidence: 99%

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Human centromere repositioning “in progress”

Amor

Bentley

Ryan

et al. 2004

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

199

202

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Centromere repositioning provides a potentially powerful evolutionary force for reproductive isolation and speciation, but the underlying mechanisms remain ill-defined. An attractive model is through the simultaneous inactivation of a normal centromere and the formation of a new centromere at a hitherto noncentromeric chromosomal location with minimal detrimental effect. We report a two-generation family in which the centromeric activity of one chromosome 4 has been relocated to a euchromatic site at 4q21.3 through the epigenetic formation of a neocentromere in otherwise cytogenetically normal and mitotically stable karyotypes. Strong epigenetic inactivation of the original centromere is suggested by retention of 1.3 megabases of centromeric ␣-satellite DNA, absence of detectable molecular alteration in chromosome 4-centromereproximal p-and q-arm sequences, and failure of the inactive centromere to be reactivated through extensive culturing or treatment with histone deacetylase inhibitor trichostatin A. The neocentromere binds functionally essential centromere proteins (CENP-A, CENP-C, CENP-E, CENP-I, BUB1, and HP1), although a moderate reduction in CENP-A binding and sister-chromatid cohesion compared with the typical centromeres suggests possible underlying structural͞functional differences. The stable mitotic and meiotic transmissibility of this pseudodicentric-neocentric chromosome in healthy individuals and the ability of the neocentric activity to form in a euchromatic site in preference to a preexisting alphoid domain provide direct evidence for an inherent mechanism of human centromere repositioning and karyotype evolution ''in progress.'' We discuss the wider implication of such a mechanism for meiotic drive and the evolution of primate and other species.

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“…Three examples of PD-NC have been described for the human Y chromosome (23)(24)(25). However, our PD-NC4 case differs from these PD-NCY cases in a number of significant ways.…”

Section: Discussionmentioning

confidence: 79%

Section: Discussionmentioning

confidence: 99%

Human centromere repositioning “in progress”

Amor

Bentley

Ryan

et al. 2004

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

199

202

View full text Add to dashboard Cite

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“…Several cases of human marker chromosomes with functioning centromeres without detectable alphoid DNA have been reported (Bukvic et al, 1996;Choo, 1997;Rivera et al, 1996;Robinson et al, 1999;Spiegel et al, 2003); these centromeres called neocentromeres may be less efficient in maintaining chromosome stability during cell division as shown by the presence of markers such as mosaic, as in this case.…”

Section: Discussionmentioning

confidence: 74%

Molecular and cytogenetic characterization of extra‐structurally abnormal chromosomes (ESACs) found prenatally: outcome and follow‐up

Marchina¹,

Piovani²,

Vezzola³

et al. 2003

Prenatal Diagnosis

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A 40-year-old woman underwent amniocentesis at 15.3 weeks of gestation. Chromosome analysis performed using QFQ, DA-DAPI and CBG banding revealed two de novo extra-chromosomal markers (ESACs) in 11 of the 16 colonies analysed. Fluorescence in situ hybridization (FISH) showed that both chromosomes came from the Yq11.22.1 region of the Y chromosome. PCR analysis of genes and STS localized on the Y chromosome excluded the Yp presence specifically of the SRY gene, and most of the euchromatic region of Yq. After extensive genetic counselling and considering both laboratory and second-level ultrasound data, the couple decided to continue the pregnancy. At 37.4 weeks of gestational age, a girl weighing 2750 g was born with an Apgar score of 9/10. A blood sample taken from the umbilical cord showed three cellular lines: mos47,XX, +mar1 ish.der (Y)(wcpY+) [21%]/48,XX, +mar1 ish.der (Y)(wcpY+), +mar2 ish.der (Y)(wcpY+) [41%]/46,XX [38%]. One year after birth, the baby was developing normally and had normal psychomotorial activity.

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“…The other three cases of neocentromere-containing Y chromosomes are found on ''neodicentric'' Y chromosomes, which contain both an inactivated endogenous Y centromere and a neocentromere within or very close to the heterochromatin in the long arm [Bukvic et al, 1996;Rivera et al, 1996;Tyler-Smith et al, 1999]. It is of interest that to date such ''neodicentric'' chromosomes have only been observed on Y chromosomes.…”

Section: Discussionmentioning

confidence: 99%

Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequence

et al. 2002

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An 18-year-old woman was evaluated because of primary amenorrhea and hypogonadism. Chromosome analysis from peripheral blood lymphocytes revealed a nonmosaic 46,X,+mar constitution. The marker was shown to be a rearranged Y chromosome consisting of an inverted duplication of the long arm: rea(Y)(qter-q11::q11-qter). Deletion mapping analysis with Y-specific STS showed that the marker lacked Yp and Y-centromeric (DYZ3) sequences, but it was positive for Yq sequences tested. Fluorescence in situ hybridization analysis with Y and X chromosome centromeric and pancentromeric probes showed no hybridization signals. The marker chromosome is present in 100% of the cells; therefore, it is mitotically stable despite the absence of DYZ3 centromeric sequence. Hybridization with CENP-A and CENP-C specific antibodies localized a neocentromere close to the breakpoint.

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An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite

Cited by 42 publications

References 22 publications

Human centromere repositioning “in progress”

Human centromere repositioning “in progress”

Molecular and cytogenetic characterization of extra‐structurally abnormal chromosomes (ESACs) found prenatally: outcome and follow‐up

Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequence

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