Neocentromeres: role in human disease, evolution, and centromere study.
David J. Amor,K. H. Andy Choo +1 more
TLDR
The centromere is essential for the proper segregation and inheritance of genetic information as discussed by the authors, and it forms a primary constriction and assemble a functional kinetochore, despite the complete absence of normal centromeric α-satellite DNA.Abstract:
The centromere is essential for the proper segregation and inheritance of genetic information. Neocentromeres are ectopic centromeres that originate occasionally from noncentromeric regions of chromosomes. Despite the complete absence of normal centromeric α-satellite DNA, human neocentromeres are able to form a primary constriction and assemble a functional kinetochore. Since the discovery and characterization of the first case of a human neocentromere in our laboratory a decade ago, 60 examples of constitutional human neocentromeres distributed widely across the genome have been described. Typically, these are located on marker chromosomes that have been detected in children with developmental delay or congenital abnormalities. Neocentromeres have also been detected in at least two types of human cancer and have been experimentally induced in Drosophila. Current evidence from human and fly studies indicates that neocentromere activity is acquired epigenetically rather than by any alteration to the DNA sequence. Since human neocentromere formation is generally detrimental to the individual, its biological value must lie beyond the individual level, such as in karyotype evolution and speciation.read more
Citations
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Molecular architecture of the kinetochore–microtubule interface
Iain M. Cheeseman,Arshad Desai +1 more
TL;DR: The kinetochore is composed of a number of conserved protein complexes that direct its specification and assembly, bind to spindle microtubules and regulate chromosome segregation.
Journal ArticleDOI
The human CENP-A centromeric nucleosome-associated complex
Daniel R. Foltz,Lars E.T. Jansen,Ben E. Black,Aaron O. Bailey,John R. Yates,Don W. Cleveland +5 more
TL;DR: It is shown that CENP-A nucleosomes directly recruit a proximal CEN parenthood-associated nucleosome associated complex (NAC) comprised of three new human centromere proteins (CENp-M, CenP-N and CENT-T), along with C ENP-U(50), CEN P-C and C ENp-H.
Journal ArticleDOI
The profile of repeat‐associated histone lysine methylation states in the mouse epigenome
Joost H.A. Martens,Roderick J. O'Sullivan,Ulrich Braunschweig,Susanne Opravil,Martin Radolf,Peter Steinlein,Thomas Jenuwein +6 more
TL;DR: A profile of repressive histone lysine methylation states for the repetitive complement of four distinct mouse epigenomes is defined and tandem repeats and dsRNA are suggested as primary triggers for more stable chromatin imprints.
Journal ArticleDOI
HJURP is a cell-cycle-dependent maintenance and deposition factor of CENP-A at centromeres
Elaine M. Dunleavy,Danièle Roche,Hideaki Tagami,Nicolas Lacoste,Dominique Ray-Gallet,Yusuke Nakamura,Yataro Daigo,Yoshihiro Nakatani,Geneviève Almouzni-Pettinotti +8 more
TL;DR: HJURP centromeric localization is cell cycle regulated, and its transient appearance at the centromere coincides precisely with the proposed time window for new CENP-A deposition and maintenance at centromeres.
Journal ArticleDOI
Propagation of centromeric chromatin requires exit from mitosis
TL;DR: A new covalent fluorescent pulse-chase labeling approach using SNAP tagging has now been developed and is used to demonstrate that CENP-A bound to a mature centromere is quantitatively and equally partitioned to sister centromeres generated during S phase, thereby remaining stably associated through multiple cell divisions.
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