Chromosome-specific alpha satellite DNA from human chromosome 1: Hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA

Waye, John S.; Durfy, Sharon; Pinkel, Dan; Kenwrick, Susan; Patterson, Mark; Davies, Kay E.; Willard, Huntington F.

doi:10.1016/0888-7543(87)90103-0

Cited by 103 publications

(55 citation statements)

References 24 publications

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“…1 (44,49). The different higher-order repeat units on these chromosomes are postulated to have been derived from several crossover events between canonical pentamers (2,40). The present higher-order repeat units contain three variations from the canonical pentamer (pentameric deviations) consisting of the monomeric pattern ...ABCDCDE... (42,44), the monomeric pattern ...ABCD EAEAB... (44,49), and a triplication of highly homologous A monomers resulting in an ...AAA... pattern (44).…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Nonrandom localization of recombination events in human alpha satellite repeat unit variants: implications for higher-order structural characteristics within centromeric heterochromatin.

Warburton¹,

Waye²,

Willard³

1993

Mol. Cell. Biol.

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Tandemly repeated DNA families appear to undergo concerted evolution, such that repeat units within a species have a higher degree of sequence similarity than repeat units from even closely related species. While intraspecies homogenization of repeat units can be explained satisfactorily by repeated rounds of genetic exchange processes such as unequal crossing over and/or gene conversion, the parameters controlling these processes remain largely unknown. Alpha satellite DNA is a noncoding tandemly repeated DNA family found at the centromeres of all human and primate chromosomes. We have used sequence analysis to investigate the molecular basis of 13 variant alpha satellite repeat units, allowing comparison of multiple independent recombination events in closely related DNA sequences. The distribution of these events within the 171-bp monomer is nonrandom and clusters in a distinct 20-to 25-bp region, suggesting possible effects of primary sequence and/or chromatin structure. The position of these recombination events may be associated with the location within the higher-order repeat unit of the binding site for the centromere-specific protein CENP-B.These studies have implications for the molecular nature of genetic recombination, mechanisms of concerted evolution, and higher-order structure of centromeric heterochromatin.The complex genomes of eukaryotes contain large amounts of tandemly repeated DNA, often comprising several percent of an organism's genetic complement. These DNA families contain as many as several thousand repeat units at a given location, arranged in a head-to-tail fashion. Noncoding tandemly repeated DNAs are possible candidates for providing some of the structural requirements for proper chromosome function (14,20), while multigene families such as ribosomal DNA (rDNA) and immunoglobulin genes are important for the development and biology of complex organisms (16). One interesting but poorly understood property of these DNA families is the high degree of sequence similarity observed among repeat units within a species compared with the relatively low similarity of repeat units between closely related species (5, 16). Models to explain this phenomenon of concerted evolution invoke repeated rounds of homologous genetic exchange processes such as unequal crossing over and conversion, such that mutations arising in individual repeat units can be duplicated and eventually spread throughout the DNA family within a species (24, 30). Genetic exchange processes are thought to be important in shaping complex genomes, resulting in gene duplication, deletion, or fusion (reviewed in reference 15) and contributing to genetic diversity between populations during evolution (8,32 tinct linear arrangements that form highly homologous chromosome-specific higher-order repeat units (6, 50). These have presumably been homogenized on their particular chromosomes by genetic exchanges between misaligned arrays aligned on the register of the higher-order repeat units (31,38,50). Within a particular chromosomal subse...

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Section: Resultsmentioning

confidence: 99%

“…Both the -CDCD-and -AEAEpentameric deviations could result from similarly misaligned canonical pentamers, with recombination in different locations (2,40). The chromosome 17 14-mer(CD) variant involves a deletion (relative to the 16-mer) in the duplicated pairs of CD monomers which in fact restores a canonical pentamer.…”

Section: Resultsmentioning

confidence: 99%

Nonrandom localization of recombination events in human alpha satellite repeat unit variants: implications for higher-order structural characteristics within centromeric heterochromatin.

Warburton¹,

Waye²,

Willard³

1993

Mol. Cell. Biol.

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“…About 0.5 µg of DNA was digested with BstBI and blot-hybridized to cloned probe sequences 22,23 followed by scoring of hypomethylation of satellite DNA sequences by phosphoimager analysis and comparison of the patterns of hybridizing fragments in X-rays. 8 Complete digestion was assessed with internal control DNAs for each digest.…”

Section: Methodsmentioning

confidence: 99%

DNA hypomethylation is prevalent even in low-grade breast cancers

Jackson¹,

Yu²,

Arakawa³

et al. 2004

Cancer Biology & Therapy

109

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“…31,32 Even the so-called DNA alpha satellite sequences are heterogeneous and each centromere differs in DNA subtypes. [33][34][35][36][37][38][39] Moreover functional centromeres can lack alphoid DNA. [40][41][42][43] It has been shown that the heterochromatin of some chromosomes such as chromosome 1 could be uncoiled by the hypomethylating agent azacytidine.…”

Section: Discussionmentioning

confidence: 99%

Centric and pericentric chromosome rearrangements in hematopoietic malignancies

Berger

Coniat

1999

Leukemia

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Cytogenetic and fluorescence in situ hybridization (FISH) analysis of 10 patients with various hematopoietic malignancies revealed the presence of dicentric chromosomes or pericentric chromosome rearrangements. Dicentrics were only ascertained by FISH studies in six patients. Two types of pericentric chromosome rearrangements have been observed: 'classical' dicentrics with two clearly separated centromeric regions, and more unusual rearrangements with a breakpoint within the centromeric or heterochromatic area, but outside the alphoid domain. FISH analysis of partial chromosome 1 q duplications present in three Burkitt lymphoma cell lines confirmed the partial involvement of the non-alphoid centromeric domain in the duplicated chromosome segment. The incidence of centromeric and pericentromeric rearrangements in hematopoietic malignancies may be higher than hitherto admitted. The chromosomal localization of these rearrangements suggests several mechanisms possibly involved in the malignant process and deserves more systematic study.

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Chromosome-specific alpha satellite DNA from human chromosome 1: Hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA

Cited by 103 publications

References 24 publications

Nonrandom localization of recombination events in human alpha satellite repeat unit variants: implications for higher-order structural characteristics within centromeric heterochromatin.

Nonrandom localization of recombination events in human alpha satellite repeat unit variants: implications for higher-order structural characteristics within centromeric heterochromatin.

DNA hypomethylation is prevalent even in low-grade breast cancers

Centric and pericentric chromosome rearrangements in hematopoietic malignancies

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