Molecular mechanism in the formation of a human ring chromosome 21

Journal Article · Wed Mar 01 00:00:00 EST 1989 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.86.6.1914· OSTI ID:7266900

Wong, C; Kazazian, Jr, H H; Stetten, G; Earnshaw, W C; Antonarakis, S E ^[1]; Van Keuren, M L ^[2]

---

1. Johns Hopkins Univ. School of Medicine, Baltimore, MD (USA)
2. Eleanor Roosevelt Institute for Cancer Research, Denver, CO (USA)

The authors 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).

• OSTI ID: 7266900
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 86:6; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
HUMAN CHROMOSOME 21
MOLECULAR BIOLOGY
DNA-CLONING
FLUORESCENCE
MAN
MOLECULAR MODELS
ANIMALS
CHROMOSOMES
CLONING
DNA HYBRIDIZATION
HETEROCHROMOSOMES
HYBRIDIZATION
LUMINESCENCE
MAMMALS
MAPPING
MATHEMATICAL MODELS
MUTATIONS
PRIMATES
VERTEBRATES
550201* - Biochemistry- Tracer Techniques