Recent amplification of an alpha satellite DNA in humans

Gray, Kendall M.; White, J. W.; Costanzi, Carl; Gillespie, D. A. F.; Schroeder, W. T.; Calabretta, Bruno; Saunders, Grady F.

doi:10.1093/nar/13.2.521

Cited by 52 publications

(18 citation statements)

References 22 publications

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“…Our description of a satellite DNA as "centromeric" is based on localization of this repeated-DNA family by in situ hybridization using a variety of different a satellite DNA probes (21,23,24,30,(32)(33)(34)(35). Formal proof of the centromeric location of these RFLPs will require linkage analysis with other genetic markers previously localized to positions on chromosome arms near the centromere.…”

Section: Discussionmentioning

confidence: 99%

Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps.

Willard¹,

Waye²,

Skolnick³

et al. 1986

Proc. Natl. Acad. Sci. U.S.A.

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We describe a general strategy for the detection of high-frequency restriction fragment length polymorphisms in the centromeric regions of human chromosomes by molecular analysis of a satellite DNA, a diverse family of tandemly repeated DNA located near the centromeres of all human chromosomes. To illustrate this strategy, cloned a satellite repeats isolated from two human chromosomes, 17 and X, have been used under high-stringency conditions that take advantage of the chromosome-specific organization of this divergent repeated DNA family. Multiple high-frequency restriction fragment length polymorphisms are described for the centromeric region of both chromosome 17 and the X chromosome. Mendelian inheritance of the variants is demonstrated. The X-linked a satellite polymorphisms in particular are highly informative and constitute a virtually unique centromeric DNA marker for each X chromosome examined. Since the strategy we describe is a general one, the a satellite family of DNA should provide a rich source of molecular variation in the human genome and should contribute to the development of centromere-based genetic linkage maps of human chromosomes.

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Section: Discussionmentioning

confidence: 99%

Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps.

Willard¹,

Waye²,

Skolnick³

et al. 1986

Proc. Natl. Acad. Sci. U.S.A.

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“…1a). Generally, alpha satellite is defined as an~171-bp repeat unit, or monomer, arranged in a head-to-tail orientation and, often, extending with limited interruptions for millions of bases (Gray et al 1985;Manuelidis 1976Manuelidis , 1978. Sequence comparisons between individual monomers reveal a highly divergent sequence family, with average pairwise identities of~60-80 % (Rudd and Willard 2004;Waye and Willard 1987).…”

Section: A Genomic Model Of Human Centromeresmentioning

confidence: 99%

Human centromere genomics: now it's personal

Hayden

2012

Chromosome Res

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Advances in human genomics have accelerated studies in evolution, disease, and cellular regulation. However, centromere sequences, defining the chromosomal interface with spindle microtubules, remain largely absent from ongoing genomic studies and disconnected from functional, genome-wide analyses. This disparity results from the challenge of predicting the linear order of multi-megabase-sized regions that are composed almost entirely of nearidentical satellite DNA. Acknowledging these challenges, the field of human centromere genomics possesses the potential to rapidly advance given the availability of individual, or personalized, genome projects matched with the promise of long-read sequencing technologies. Here I review the current genomic model of human centromeres in consideration of those studies involving functional datasets that examine the role of sequence in centromere identity.

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“…At very high stringency, allowing for mismatch of only a few percent, the chromosome 14 probe failed to hybridize to DNA from chromosome 22 in accordance with the observed 10.3% sequence deviation between the two subfamilies (see Table 1). Clones 14-1550, 14-1649, and 14-2018 share specific changes (e.g., 0 at positions 36,47, and 63 in the 1, monomer of dimer I) and represent a subset indicated by B, whereas the rest of the clones are indicated by A in Fig. 3.…”

mentioning

confidence: 99%

Evolutionarily different alphoid repeat DNA on homologous chromosomes in human and chimpanzee.

Jørgensen

Laursen

Jones

et al. 1992

Proc. Natl. Acad. Sci. U.S.A.

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Centromeric alphoid DNA in primates represents a class of evolving repeat DNA. In humans, chromosomes 13 and 21 share one subfamily of alphoid DNA while chromosomes 14 and 22 share another subfamily. We show that similar pairwise homogenizations occur in the chimpanzee (Pan troglodytes), where chromosomes 14 and 22, homologous to human chromosomes 13 and 21, share one partially homogenized alphoid DNA subfamily and chromosomes 15 and 23, homologous to human chromosomes 14 and 22, share another extensively homogenized subfamily. Such a pattern of homogenization presumably predates speciation 3-10 million years ago. However, the alphoid DNA on these human and chimpanzee chromosomes is not orthologous but originates from two evolutionarily different repeat families. It follows that dramatic sequence evolution has occurred in a concerted fashion among the chromosomes in one or both species during or after separation.Molecular data support a view concerning human origins that groups chimpanzees (Pan) and gorillas (Gorilla) with humans rather than with orangutans (Pongo) (1). Orthologous nonrepetitive DNAs share a high overall identity (98%) between humans and the great African apes, whereas analyses of pseudogene DNA sequences and protein structure suggest that humans and chimpanzees are more closely related and diverged from a common ancestor 3-10 million years ago (1-5). High-resolution banding patterns of prophase chromosomes also link humans with chimpanzees (6), but these conclusions have been challenged by recent studies on gene structure (7). Compared to chimpanzee, the human lineage has experienced rapid phenotypic evolution (8) and at the same time has had the lowest mutation rate yet found, 0.1% per million years (3)(4)(5)9). The dramatic morphological changes may therefore be more easily explained by increased frequency of rearrangement of preexisting DNA sequences rather than by fixation of mutations (10).

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Recent amplification of an alpha satellite DNA in humans

Cited by 52 publications

References 22 publications

Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps.

Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps.

Human centromere genomics: now it's personal

Evolutionarily different alphoid repeat DNA on homologous chromosomes in human and chimpanzee.

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