Kinetochore development in two dicentric chromosomes in man

Cytological analysis of the mouse Y* chromosome revealed a complex rearrangement involving acquisition of a functional centromere and centromeric heterochromatin and attachment of this chromosomal segment to the distal end of a normal Y chromosome. This rearrangement positioned the Y short-arm region at the distal end of the Y* chromosome and the pseudoautosomal region interstitially, just distal to the newly acquired centromere. In addition, the majority of the pseudoautosomal region was inverted. Recombination between the X and the Y* chromosomes generates two new sex chromosomes: (1) a large chromosome comprised of the X chromosome attached at its distal end to all of the Y* chromosome but missing the centromeric region (X^Y*) and (2) a small chromosome containing the centromeric portion of the Y* chromosome attached to G-band-negative material from the X chromosome (Y*^X). Mice that inherit the X^Y* chromosome develop as sterile males, whereas mice that inherit the Y*^X chromosome develop as fertile females. Recovery of equal numbers of recombinant and nonrecombinant offspring from XY* males supports the hypothesis that recombination between the mammalian X and Y chromosomes is necessary for primary spermatocytes to successfully complete spermatogenesis and form functional sperm.

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“…1985: Peretti et al, 1986;Therman et al, 1986: Earnshaw et al. 1989: Wandall. 1989Haaf andSchmid, 1990: Maraschio et al, 1990].)…”

Section: Discussionunclassified

The mouse Y* chromosome involves a complex rearrangement, including interstitial positioning of the pseudoautosomal region

Eicher

Hale

Hunt

et al. 1991

Cytogenet Genome Res

119

100

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“…1989). or dicentric, with a frequency of 34% (Niebuhr, 1972) or 48% (Wandall, 1989). Both centromeres had kinctochores with attached microtubules (Wandall.…”

Section: Resultsmentioning

confidence: 99%

“…In Q-banded cells the translocation chromosome may ap pear either monoccntric, with a reported frequency of 59% (Niebuhr, 1972) or 48% (Wandall. 1989).…”

Section: Resultsmentioning

confidence: 99%

Clonal origin of partially inactivated centromeres in a stable dicentric chromosome

Wandall¹

1995

Cytogenet Genome Res

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A stable dicentric human chromosome can appear to be both dicentric and monocentric, with either centromere in the primary constriction. Tetraploid cells were examined to determine if the chromosome bred true with respect to the three possible centromere configurations or if it could alternate between them. When a tetraploid cell contained two monocentric copies of the chromosome, the two copies would always have the same centromere in the primary constriction. However, some tetraploids contained one dicentric and one monocentric copy. Thus, centromere usage was fixed for the monocentric chromosomes, but it was not clear if truly dicentric chromosomes existed.

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“…Centromere activity Anti-centromere antibodies from CREST serum (Earnshaw and Rothfield, 1985) reacted with both centromeres, but only weakly with one (Wandall, 1989). CREST serum was used here to identify the dicentric chromosome; the serum contains a mixture of anti-centromere antibodies, and the residual activity at the inactive centromere was probably caused by the presence of CENP-B protein, which binds to ·-satellite DNA irrespective of centromere activity (Earnshaw et al, 1989).…”

Section: Chromosomal Anatomy At the Fusion Pointmentioning

confidence: 99%

“…Despite the apparent presence of two primary constrictions, the chromosome formed only one kinetochore (Wandall, 1989), either because one centromere had lost (part of) its DNA or because it had become inactivated. Our molecular cytogenetic examination showed that the isochromosome 21 had lost the telomeric repeats at the fusion point, but no other loss of DNA could be detected.…”

mentioning

confidence: 99%

Extensive cytogenetic analysis of a stable dicentric isochromosome 21, idic(21), formed by fusion of the terminal long arms

Wandall¹,

Andersen²,

Østergaard³

et al. 2002

Cytogenet Genome Res

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The dicentric isochromosome 21 described in this paper was formed by fusion of the terminal parts of the long arms of two chromosomes 21. No interstitial telomeric AGGGTT repeats could be detected at the fusion point, but G-banding, comparative genomic hybridization, and fluorescence in situ hybridization with painting probes for 21qter revealed no loss of other terminal DNA sequences at the fusion point. Thus, only the telomeric repeats seem to have been lost prior to, or as a consequence of, isochromosome formation. Both short arms of the isochromosome were intact with complete NORs, and staining for α-satellite DNA showed that the DNA content of the two centromeres was the same. Antibody staining for the centromeric proteins CENP-C and CENP-E and for topoisomerase IIα and IIβ demonstrated that these proteins were localized predominantly or exclusively at the centromere in the primary constriction. A novel functional in situ assay for topoisomerase activity in vivo similarly demonstrated enzyme activity exclusively at the primary constriction centromere.

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Kinetochore development in two dicentric chromosomes in man

Cited by 17 publications

References 23 publications

The mouse Y* chromosome involves a complex rearrangement, including interstitial positioning of the pseudoautosomal region

The mouse Y* chromosome involves a complex rearrangement, including interstitial positioning of the pseudoautosomal region

Clonal origin of partially inactivated centromeres in a stable dicentric chromosome

Extensive cytogenetic analysis of a stable dicentric isochromosome 21, idic(21), formed by fusion of the terminal long arms

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