Chromosome-specific subsets of human alpha satellite DNA: Analysis of sequence divergence within and between chromosomal subsets and evidence for an ancestral pentameric repeat

1987 ◽  
Vol 25 (3) ◽  
pp. 207-214 ◽  
Author(s):  
Huntington F. Willard ◽  
John S. Waye
Keyword(s):  
Satellite Dna ◽  
Dna Analysis ◽  
Sequence Divergence ◽  
Alpha Satellite ◽  
Alpha Satellite Dna

scholarly journals Evolutionary History of Alpha Satellite DNA Repeats Dispersed within Human Genome Euchromatin

2020 ◽  
Vol 12 (11) ◽  
pp. 2125-2138
Author(s):  
Isidoro Feliciello ◽  
Željka Pezer ◽  
Dušan Kordiš ◽  
Branka Bruvo Mađarić ◽  
Đurđica Ugarković
Keyword(s):  
Satellite Dna ◽  
Evolutionary History ◽  
Genomic Sequence ◽  
Sequence Divergence ◽  
Dna Repeats ◽  
Alpha Satellite ◽  
Alpha Satellite Dna ◽  
Satellite Repeats ◽  
Number Variation ◽  
History Of

Abstract Major human alpha satellite DNA repeats are preferentially assembled within (peri)centromeric regions but are also dispersed within euchromatin in the form of clustered or short single repeat arrays. To study the evolutionary history of single euchromatic human alpha satellite repeats (ARs), we analyzed their orthologous loci across the primate genomes. The continuous insertion of euchromatic ARs throughout the evolutionary history of primates starting with the ancestors of Simiformes (45–60 Ma) and continuing up to the ancestors of Homo is revealed. Once inserted, the euchromatic ARs were stably transmitted to the descendant species, some exhibiting copy number variation, whereas their sequence divergence followed the species phylogeny. Many euchromatic ARs have sequence characteristics of (peri)centromeric alpha repeats suggesting heterochromatin as a source of dispersed euchromatic ARs. The majority of euchromatic ARs are inserted in the vicinity of other repetitive elements such as L1, Alu, and ERV or are embedded within them. Irrespective of the insertion context, each AR insertion seems to be unique and once inserted, ARs do not seem to be subsequently spread to new genomic locations. In spite of association with (retro)transposable elements, there is no indication that such elements play a role in ARs proliferation. The presence of short duplications at most of ARs insertion sites suggests site-directed recombination between homologous motifs in ARs and in the target genomic sequence, probably mediated by extrachromosomal circular DNA, as a mechanism of spreading within euchromatin.

On the mode of evolution of alpha satellite DNA in human populations

1991 ◽  
Vol 33 (1) ◽  
pp. 42-48 ◽  
Author(s):  
B. Marçais ◽  
J. P. Charlieu ◽  
B. Allain ◽  
E. Brun ◽  
M. Bellis ◽  
...  
Keyword(s):  
Satellite Dna ◽  
Human Populations ◽  
Alpha Satellite ◽  
Alpha Satellite Dna

Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes

1993 ◽  
Vol 91 (2) ◽  
Author(s):  
Rina Plattner ◽  
NylaA. Heerema ◽  
YuriB. Yurov ◽  
CatherineG. Palmer
Keyword(s):  
Satellite Dna ◽  
Dna Probes ◽  
Alpha Satellite ◽  
Marker Chromosomes ◽  
Alpha Satellite Dna

Structure of DNA near long tandem arrays of alpha satellite DNA at the centromere of human chromosome 7

Genomics ◽  
1992 ◽  
Vol 14 (4) ◽  
pp. 912-923 ◽  
Author(s):  
Rachel Wevrick ◽  
Vicki P. Willard ◽  
Huntington F. Willard
Keyword(s):  
Human Chromosome ◽  
Satellite Dna ◽  
Chromosome 7 ◽  
Alpha Satellite ◽  
Alpha Satellite Dna ◽  
Human Chromosome 7 ◽  
Tandem Arrays

scholarly journals Partial deletion of alpha satellite DNA associated with reduced amounts of the centromere protein CENP-B in a mitotically stable human chromosome rearrangement.

1990 ◽  
Vol 10 (12) ◽  
pp. 6374-6380 ◽  
Author(s):  
R Wevrick ◽  
W C Earnshaw ◽  
P N Howard-Peebles ◽  
H F Willard
Keyword(s):  
Human Chromosome ◽  
Satellite Dna ◽  
Centromeric Region ◽  
Chromosome Rearrangement ◽  
Specific Antigen ◽  
Chromosome 17 ◽  
Alpha Satellite ◽  
Protein Antigens ◽  
Alpha Satellite Dna ◽  
Human Chromosome 17

A familial, constitutionally rearranged human chromosome 17 is deleted for much of the DNA in its centromeric region but retains full mitotic centromere activity. Fluorescence in situ hybridization, pulsed-field gel electrophoresis, and Southern blot analysis of the residual centromeric region revealed a approximately 700-kb centromeric array of tandemly repeated alpha satellite DNA that was only approximately 20 to 30% as large as a normal array. This deletion was associated with a reduction in the amount of the centromere-specific antigen CENP-B detected by indirect immunofluorescence. The coincidence of the primary constriction, the small residual array of alpha satellite DNA, and the reduced amount of detectable CENP-B support the hypothesis that CENP-B is associated with alpha satellite DNA. Furthermore, the finding that both the deleted chromosome 17 and its derivative supernumerary fragment retained mitotic function and possess centromeric protein antigens suggests that human centromeres are structurally and functionally repetitive.

scholarly journals Dynamic elastic behavior of alpha-satellite DNA domains visualized in situ in living human cells.

1996 ◽  
Vol 135 (3) ◽  
pp. 545-557 ◽  
Author(s):  
R D Shelby ◽  
K M Hahn ◽  
K F Sullivan
Keyword(s):  
Satellite Dna ◽  
Fluorescent Protein ◽  
Time Lapse ◽  
Fluorescent Labeling ◽  
Human Cells ◽  
Elastic Behavior ◽  
Alpha Satellite ◽  
Alpha Satellite Dna ◽  
Green Fluorescent

We have constructed a fluorescent alpha-satellite DNA-binding protein to explore the motile and mechanical properties of human centromeres. A fusion protein consisting of human CENP-B coupled to the green fluorescent protein (GFP) of A. victoria specifically targets to centromeres when expressed in human cells. Morphometric analysis revealed that the alpha-satellite DNA domain bound by CENPB-GFP becomes elongated in mitosis in a microtubule-dependent fashion. Time lapse confocal microscopy in live mitotic cells revealed apparent elastic deformations of the central domain of the centromere that occurred during metaphase chromosome oscillations. These observations demonstrate that the interior region of the centromere behaves as an elastic element that could play a role in the mechanoregulatory mechanisms recently identified at centromeres. Fluorescent labeling of centromeres revealed that they disperse throughout the nucleus in a nearly isometric expansion during chromosome decondensation in telophase and early G1. During interphase, centromeres were primarily stationary, although motility of individual or small groups of centromeres was occasionally observed at very slow rates of 7-10 microns/h.

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