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PMID: 2648387 Published · ppublish English Comparative Study Journal Article Research Support, U.S. Gov't, P.H.S.

Molecular mechanism in the formation of a human ring chromosome 21.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 86 ·No. 6 ·1989-03-00 ·Pages 1914-8

Wong C, Kazazian HH, Stetten G, Earnshaw WC, Van Keuren ML, Antonarakis SE

Abstract

We have characterized the structural rearrangements of a chromosome 21 that led to the de novo formation of a human ring chromosome 21 [r(21)]. Molecular cloning and chromosomal localization of the DNA regions flanking the ring junction provide evidence for a long arm to long arm fusion in formation of the r(21). In addition, the centromere and proximal long arm region of a maternal chromosome 21 are duplicated in the r(21). Therefore, the mechanism in formation of the r(21) was complex involving two sequential chromosomal rearrangements. (i) Duplication of the centromere and long arm of one maternal chromosome 21 occurred forming a rearranged intermediate. (ii) Chromosomal breaks in both the proximal and telomeric long arm regions on opposite arms of this rearranged chromosome occurred with subsequent reunion producing the r(21).

MeSH Terms
Amnion/analysis,ultrastructure Base Sequence Cells, Cultured Chromosome Aberrations Chromosome Mapping Chromosomes, Human, Pair 21/ultrastructure Cloning, Molecular DNA/genetics DNA Probes Female Fibroblasts/analysis,ultrastructure Fluorescent Antibody Technique Humans Lymphocytes/analysis,ultrastructure Male Molecular Sequence Data Nucleic Acid Hybridization Polymorphism, Genetic Ring Chromosomes Sequence Homology, Nucleic Acid
Chemicals
DNA Probes DNA
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Wong C
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Kazazian H H
Stetten G
Earnshaw W C
Van Keuren M L
Antonarakis S E
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.86.6.1914
Published
1989-03-00
Pages
1914-8
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC286815
Subset
IM
Databases
GENBANK
J04504
External Links
PubMed source DOI: 10.1073/pnas.86.6.1914 PMC Full Text View journal details
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