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

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.

Download Full-text

Ordered mapping of three alpha satellite DNA subsets on human chromosome 22

Chromosome Research ◽

10.1007/bf00710673 ◽

1995 ◽

Vol 3 (2) ◽

pp. 124-127 ◽

Cited By ~ 9

Author(s):

Rachele Antonacci ◽

Mariano Rocchi ◽

Nicoletta Archidiacono ◽

Antonio Baldini

Keyword(s):

Human Chromosome ◽

Satellite Dna ◽

Chromosome 22 ◽

Alpha Satellite ◽

Alpha Satellite Dna

Download Full-text

Detection of novel centromeric polymorphisms associated with alpha satellite DNA from human chromosome 11

Human Genetics ◽

10.1007/bf00272383 ◽

1987 ◽

Vol 77 (2) ◽

pp. 151-156 ◽

Cited By ~ 22

Author(s):

John S. Waye ◽

Gillian M. Greig ◽

Huntington F. Willard

Keyword(s):

Human Chromosome ◽

Satellite Dna ◽

Alpha Satellite ◽

Chromosome 11 ◽

Alpha Satellite Dna

Download Full-text

Evolution of the centromeric alpha-satellite DNA sequences of human chromosome 22

Prenatal Diagnosis ◽

10.1002/(sici)1097-0223(199906)19:6<590::aid-pd567>3.0.co;2-7 ◽

1999 ◽

Vol 19 (6) ◽

pp. 590-591 ◽

Cited By ~ 1

Author(s):

Ram S. Verma

Keyword(s):

Human Chromosome ◽

Dna Sequences ◽

Satellite Dna ◽

Chromosome 22 ◽

Alpha Satellite ◽

Alpha Satellite Dna

Download Full-text

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

Molecular and Cellular Biology ◽

10.1128/mcb.7.1.349-356.1987 ◽

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.

Download Full-text