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PMID: 2247061 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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 ·Vol. 10 ·No. 12 ·1990-12-00 ·Pages 6374-80

Wevrick R, Earnshaw WC, Howard-Peebles PN, Willard HF

Abstract

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.

MeSH Terms
Autoantigens/genetics Cell Line Centromere Protein B Chromosomal Proteins, Non-Histone/genetics Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 17 DNA, Satellite/genetics DNA-Binding Proteins Gene Rearrangement Humans Metaphase Nucleic Acid Hybridization Restriction Mapping
Chemicals
Autoantigens CENPB protein, human Centromere Protein B Chromosomal Proteins, Non-Histone DNA, Satellite DNA-Binding Proteins
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Wevrick R
Department of Molecular and School of Medicine, Medical Genetics, University of Toronto, Ontario, Canada.
Earnshaw W C
Howard-Peebles P N
Willard H F
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Article Info
Journal
Molecular and cellular biology
Abbr.
Mol Cell Biol
ISSN
0270-7306
Published
1990-12-00
Pages
6374-80
Language
English
Region
United States
NLM ID
8109087
PMCID
PMC362913
Subset
IM
Grants
NIGMS NIH HHS · GM35212 · United States
NHGRI NIH HHS · HG00107 · United States
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