scholarly journals Evolutionary Origin of Higher-Order Repeat Structure in Alpha-Satellite DNA of Primate Centromeres

DNA Research ◽  
2014 ◽  
Vol 21 (4) ◽  
pp. 407-415 ◽  
Author(s):  
A. Koga ◽  
Y. Hirai ◽  
S. Terada ◽  
I. Jahan ◽  
S. Baicharoen ◽  
...  
Keyword(s):  
Satellite Dna ◽  
Higher Order ◽  
Evolutionary Origin ◽  
Alpha Satellite ◽  
Alpha Satellite Dna ◽  
Repeat Structure

scholarly journals Higher-order repeat structure in alpha satellite DNA is an attribute of hominoids rather than hominids

2013 ◽  
Vol 58 (11) ◽  
pp. 752-754 ◽  
Author(s):  
Shoko Terada ◽  
Yuriko Hirai ◽  
Hirohisa Hirai ◽  
Akihiko Koga
Keyword(s):  
Satellite Dna ◽  
Higher Order ◽  
Alpha Satellite ◽  
Alpha Satellite Dna ◽  
Repeat Structure

scholarly journals Alpha satellite insertions and the evolutionary landscape of centromeres

2021 ◽  
Author(s):  
Giuliana Giannuzzi ◽  
Glennis A. Logsdon ◽  
Nicolas Chatron ◽  
Danny E. Miller ◽  
Julie Reversat ◽  
...  
Keyword(s):  
Satellite Dna ◽  
Adaptive Sampling ◽  
De Novo ◽  
Regulatory Element ◽  
Higher Order ◽  
Alpha Satellite ◽  
Chromosome 18 ◽  
Alpha Satellite Dna ◽  
Repeat Structure ◽  
Human Genome Assembly

AbstractHuman centromeres are composed of alpha satellite DNA hierarchically organized as higher-order repeats and epigenetically specified by CENP-A binding. Current evolutionary models assert that new centromeres are first epigenetically established and subsequently acquire an alphoid array. We identified during routine prenatal aneuploidy diagnosis by FISH a de novo insertion of alpha satellite DNA array (~50-300 kbp) from the centromere of chromosome 18 (D18Z1) into chromosome 15q26 euchromatin. Although bound by CENP-B, this locus did not acquire centromeric functionality as demonstrated by lack of constriction and absence of CENP-A binding. We characterized the rearrangement by FISH and sequencing using Illumina, PacBio, and Nanopore adaptive sampling which revealed that the insertion was associated with a 2.8 kbp deletion and likely occurred in the paternal germline. Notably, the site was located ~10 Mbp distal from the location where a centromere was ancestrally seeded and then became inactive sometime between 20 and 25 million years ago (Mya), in the common ancestor of humans and apes. Long reads spanning either junction showed that the organization of the alphoid insertion followed the 12-mer higher-order repeat structure of the D18Z1 array. Mapping to the CHM13 human genome assembly revealed that the satellite segment transposed from a specific location of chromosome 18 centromere. The rearrangement did not directly disrupt any gene or predicted regulatory element and did not alter the epigenetic status of the surrounding region, consistent with the absence of phenotypic consequences in the carrier. This case demonstrates a likely rare but new class of structural variation that we name ‘alpha satellite insertion’. It also expands our knowledge about the evolutionary life cycle of centromeres, conveying the possibility that alphoid arrays can relocate near vestigial centromeric sites.

Genomic organization of alpha satellite DNA on human chromosome 7: evidence for two distinct alphoid domains on a single chromosome

1987 ◽  
Vol 7 (1) ◽  
pp. 349-356
Author(s):  
J S Waye ◽  
S B England ◽  
H F Willard
Keyword(s):  
Human Genome ◽  
Dna Sequences ◽  
Satellite Dna ◽  
Repeat Unit ◽  
Higher Order ◽  
Chromosome 7 ◽  
Alpha Satellite ◽  
Single Chromosome ◽  
Alpha Satellite Dna ◽  
Repeat Structure

A complete understanding of chromosomal disjunction during mitosis and meiosis in complex genomes such as the human genome awaits detailed characterization of both the molecular structure and genetic behavior of the centromeric regions of chromosomes. Such analyses in turn require knowledge of the organization and nature of DNA sequences associated with centromeres. The most prominent class of centromeric DNA sequences in the human genome is the alpha satellite family of tandemly repeated DNA, which is organized as distinct chromosomal subsets. Each subset is characterized by a particular multimeric higher-order repeat unit consisting of tandemly reiterated, diverged alpha satellite monomers of approximately 171 base pairs. The higher-order repeat units are themselves tandemly reiterated and represent the most recently amplified or fixed alphoid sequences. We present evidence that there are at least two independent domains of alpha satellite DNA on chromosome 7, each characterized by their own distinct higher-order repeat structure. We determined the complete nucleotide sequences of a 6-monomer higher-order repeat unit, which is present in approximately 500 copies per chromosome 7, as well as those of a less-abundant (approximately 10 copies) 16-monomer higher-order repeat unit. Sequence analysis indicated that these repeats are evolutionarily distinct. Genomic hybridization experiments established that each is maintained in relatively homogeneous tandem arrays with no detectable interspersion. We propose mechanisms by which multiple unrelated higher-order repeat domains may be formed and maintained within a single chromosomal subset.

scholarly journals Higher-order repeat structure in alpha satellite DNA occurs in New World monkeys and is not confined to hominoids

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Penporn Sujiwattanarat ◽  
Watcharaporn Thapana ◽  
Kornsorn Srikulnath ◽  
Yuriko Hirai ◽  
Hirohisa Hirai ◽  
...  
Keyword(s):  
Satellite Dna ◽  
New World ◽  
Higher Order ◽  
New World Monkeys ◽  
Alpha Satellite ◽  
Alpha Satellite Dna ◽  
Repeat Structure

scholarly journals Genomic organization of alpha satellite DNA on human chromosome 7: evidence for two distinct alphoid domains on a single chromosome.

1987 ◽  
Vol 7 (1) ◽  
pp. 349-356 ◽  
Author(s):  
J S Waye ◽  
S B England ◽  
H F Willard
Keyword(s):  
Human Genome ◽  
Dna Sequences ◽  
Satellite Dna ◽  
Repeat Unit ◽  
Higher Order ◽  
Chromosome 7 ◽  
Alpha Satellite ◽  
Single Chromosome ◽  
Alpha Satellite Dna ◽  
Repeat Structure

A complete understanding of chromosomal disjunction during mitosis and meiosis in complex genomes such as the human genome awaits detailed characterization of both the molecular structure and genetic behavior of the centromeric regions of chromosomes. Such analyses in turn require knowledge of the organization and nature of DNA sequences associated with centromeres. The most prominent class of centromeric DNA sequences in the human genome is the alpha satellite family of tandemly repeated DNA, which is organized as distinct chromosomal subsets. Each subset is characterized by a particular multimeric higher-order repeat unit consisting of tandemly reiterated, diverged alpha satellite monomers of approximately 171 base pairs. The higher-order repeat units are themselves tandemly reiterated and represent the most recently amplified or fixed alphoid sequences. We present evidence that there are at least two independent domains of alpha satellite DNA on chromosome 7, each characterized by their own distinct higher-order repeat structure. We determined the complete nucleotide sequences of a 6-monomer higher-order repeat unit, which is present in approximately 500 copies per chromosome 7, as well as those of a less-abundant (approximately 10 copies) 16-monomer higher-order repeat unit. Sequence analysis indicated that these repeats are evolutionarily distinct. Genomic hybridization experiments established that each is maintained in relatively homogeneous tandem arrays with no detectable interspersion. We propose mechanisms by which multiple unrelated higher-order repeat domains may be formed and maintained within a single chromosomal subset.

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
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