Structure, organization, and sequence of alpha satellite DNA from human chromosome 17: evidence for evolution by unequal crossing-over and an ancestral pentamer repeat shared with the human X chromosome.

The centromeric regions of all human chromosomes are characterized by distinct subsets of a diverse tandemly repeated DNA family, alpha satellite. On human chromosome 17, the predominant form of alpha satellite is a 2.7-kilobase-pair higher-order repeat unit consisting of 16 alphoid monomers. We present the complete nucleotide sequence of the 16-monomer repeat, which is present in 500 to 1,000 copies per chromosome 17, as well as that of a less abundant 15-monomer repeat, also from chromosome 17. These repeat units were approximately 98% identical in sequence, differing by the exclusion of precisely 1 monomer from the 15-monomer repeat. Homologous unequal crossing-over is suggested as a probable mechanism by which the different repeat lengths on chromosome 17 were generated, and the putative site of such a recombination event is identified. The monomer organization of the chromosome 17 higher-order repeat unit is based, in part, on tandemly repeated pentamers. A similar pentameric suborganization has been previously demonstrated for alpha satellite of the human X chromosome. Despite the organizational similarities, substantial sequence divergence distinguishes these subsets. Hybridization experiments indicate that the chromosome 17 and X subsets are more similar to each other than to the subsets found on several other human chromosomes. We suggest that the chromosome 17 and X alpha satellite subsets may be related components of a larger alphoid subfamily which have evolved from a common ancestral repeat into the contemporary chromosome-specific subsets.

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Molecular analysis of a deletion polymorphism in alpha satellite of human chromosome 17: evidence for homologous unequal crossing-over and subsequent fixation

Nucleic Acids Research ◽

10.1093/nar/14.17.6915 ◽

1986 ◽

Vol 14 (17) ◽

pp. 6915-6927 ◽

Cited By ~ 68

Author(s):

John S. Waye ◽

Huntington F. Willard

Keyword(s):

Human Chromosome ◽

Molecular Analysis ◽

Chromosome 17 ◽

Crossing Over ◽

Alpha Satellite ◽

Deletion Polymorphism ◽

Unequal Crossing Over ◽

Human Chromosome 17

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

Molecular and Cellular Biology ◽

10.1128/mcb.10.12.6374 ◽

1990 ◽

Vol 10 (12) ◽

pp. 6374-6380 ◽

Cited By ~ 34

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.

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A comprehensive genetic map of murine chromosome 11 reveals extensive linkage conservation between mouse and human.

Genetics ◽

10.1093/genetics/122.1.153 ◽

1989 ◽

Vol 122 (1) ◽

pp. 153-161 ◽

Cited By ~ 3

Author(s):

A M Buchberg ◽

E Brownell ◽

S Nagata ◽

N A Jenkins ◽

N G Copeland

Keyword(s):

Human Chromosome ◽

Linkage Map ◽

Mouse Chromosome ◽

Chromosome 17 ◽

Human Chromosomes ◽

Chromosome 11 ◽

Murine Chromosome ◽

Human Chromosome 17 ◽

Mouse Chromosome 11 ◽

Linkage Conservation

Abstract Interspecific backcross animals from a cross between C57BL/6J and Mus spretus mice were used to generate a comprehensive linkage map of mouse chromosome 11. The relative map positions of genes previously assigned to mouse chromosome 11 by somatic cell hybrid or genetic backcross analysis were determined (Erbb, Rel, 11-3, Csfgm, Trp53-1, Evi-2, Erba, Erbb-2, Csfg, Myhs, Cola-1, Myla, Hox-2 and Pkca). We also analyzed genes that we suspected would map to chromosome 11 by virtue of their location in human chromosomes and the known linkage homologies that exist between murine chromosome 11 and human chromosomes (Mpo, Ngfr, Pdgfr and Fms). Two of the latter genes, Mpo and Ngfr, mapped to mouse chromosome 11. Both genes also mapped to human chromosome 17, extending the degree of linkage conservation observed between human chromosome 17 and mouse chromosome 11. Pdgfr and Fms, which are closely linked to II-3 and Csfgm in humans on chromosome 5, mapped to mouse chromosome 18 rather than mouse chromosome 11, thereby defining yet another conserved linkage group between human and mouse chromosomes. The mouse chromosome 11 linkage map generated in these studies substantially extends the framework for identifying homologous genes in the mouse that are involved in human disease, for elucidating the genes responsible for several mouse mutations, and for gaining insights into chromosome evolution and genome organization.

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

Molecular and Cellular Biology ◽

10.1128/mcb.10.12.6374-6380.1990 ◽

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.

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