Journal ArticleDOI
Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation.
Paola Maraschio,Orsetta Zuffardi,A. Caiulo,Eleonora Dainotti,M. Piantanida,Horacio Rivera,Rossella Tupler +6 more
TLDR
In this paper, the authors studied the phenomenon of inactivation in two Y centromeres, having as a control genetically identical active and inactive Y centromres, and concluded that, in the case of the isochromosome, a true deletion of centromeric chromatin is responsible for its stability, whereas in the second case, stability of the dicentric (X;Y) is the result of centromeere chromatin modification.Abstract:
Stable dicentric chromosomes behave as monocentrics because one of the centromeres is inactive. The cause of centromere inactivation is unknown; changes in centromere chromatin conformation and loss of centromeric DNA elements have been proposed as possible mechanisms. We studied the phenomenon of inactivation in two Y centromeres, having as a control genetically identical active Y centromeres. The two cases have the following karyotypes: 45,X/46,X,i(Y)(q12) and 46,XY/ 47,XY,+t(X;Y)(p22.3;p11.3). The analysis of the behaviour of the active and inactive Y chromosome centromeres after Da-Dapi staining, CREST immunofluorescence, and in situ hybridization with centromeric probes leads us to conclude that, in the case of the isochromosome, a true deletion of centromeric chromatin is responsible for its stability, whereas in the second case, stability of the dicentric (X;Y) is the result of centromere chromatin modification.read more
Citations
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Journal ArticleDOI
Identification of centromeric antigens in dicentric Robertsonian translocations: CENP-C and CENP-E are necessary components of functional centromeres
Beth A. Sullivan,Stuart Schwartz +1 more
TL;DR: Results provide the first evidence that CENP-E correlates with active centromeres as well, demonstrating that at least two specific centromeric proteins are required for human Centromeric function.
Journal ArticleDOI
Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes.
Chris Tyler-Smith,Rebecca Oakey,Zoia Larin,Richard B. Fisher,Richard B. Fisher,Mark Crocker,Nabeel A. Affara,Malcolm A. Ferguson-Smith,Maximilian Muenke,Orsetta Zuffardi,Mark A. Jobling,Mark A. Jobling +11 more
TL;DR: Alphoid DNA is a functional part of the Y chromosome centromere and two suppressed Y centromeres on translocation chromosomes and dicentric isochromosomes that were also analysed two showed deletions one of which only removed alphoidDNA.
Journal ArticleDOI
Dicentric chromosomes: unique models to study centromere function and inactivation.
TL;DR: Current experimental evidence from various organisms that has deepened the understanding of dicentric behavior and the intriguingly complex process of centromere inactivation are discussed.
Journal ArticleDOI
Isodicentric Y chromosome : cytogenetic, molecular and clinical studies and review of the literature
Cathy M. Tuck-Muller,Harold Chen,Jose E. Martinez,Chuen Cheh Shen,Shibo Li,Christine J. Kusyk,Denise A.S. Batista,Y. M. Bhatnagar,Edmund A. Dowling,Wladimir Wertelecki +9 more
TL;DR: An 18-year-old female with short stature, amenorrhea, hirsutism, hypoplastic labia minora, and clitoromegaly who has a 45,X/46,X,idic(Y) (p11.32) karyotype is reported, indicating that almost all of the Y chromosome was present.
Journal ArticleDOI
Telomere Disruption Results in Non-Random Formation of De Novo Dicentric Chromosomes Involving Acrocentric Human Chromosomes
Kaitlin M. Stimpson,Ihn Young Song,Anna Jauch,Heidi Holtgreve-Grez,Karen E. Hayden,Joanna M. Bridger,Beth A. Sullivan +6 more
TL;DR: It is demonstrated that transient disruption of human telomere structure non-randomly produces dicentric fusions involving acrocentric chromosomes and a human cell culture model is described that enriches for de novo dicentrics.
References
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Book
Nonparametric statistics for the behavioral sciences
TL;DR: This is the revision of the classic text in the field, adding two new chapters and thoroughly updating all others as discussed by the authors, and the original structure is retained, and the book continues to serve as a combined text/reference.
Journal ArticleDOI
Identification of a family of human centromere proteins using autoimmune sera from patients with scleroderma.
TL;DR: Examination of “preimmune” serum samples from a patient who progressively developed the symptoms of scleroderma CREST over a period of several years shows that these patients make antibody species recognizing at least three distinct epitopes on C ENP-B and two on CENP-C.
Journal ArticleDOI
Hierarchical order in chromosome-specific human alpha satellite DNA
TL;DR: Analysis of the sequence organization of these diverged chromosomal subsets provides a framework for considering mechanisms of generation of sequence diversity and for understanding evolutionary processes of DNA family homogenization and polymorphism.
Journal ArticleDOI
Visualization of centromere proteins CENP-B and CENP-C on a stable dicentric chromosome in cytological spreads.
TL;DR: The data suggest that CENP-C is likely to be a component of some invariant chromosomal substructure, such as the kinetochore, and CENPB may be involved in some other aspect of centromere function,such as chromosome movement or DNA packaging.
Journal ArticleDOI
Three related centromere proteins are absent from the inactive centromere of a stable isodicentric chromosome.
TL;DR: An aqueous spreading procedure that permits simultaneous analysis of human chromosomes by Q-banding and indirect immunofluorescence and anticentromere antibodies from an autoimmune patient is developed and it is shown that a family of structurally related human centromere proteins is detectable only at the active centromeres.