Molecular Mechanism in the Formation of a Human Ring Chromosome 21

Overview

Journal Proc Natl Acad Sci U S A

Specialty Science

Date 1989 Mar 1

PMID 2648387

Citations 16

Authors

C Wong

H H Kazazian Jr

G Stetten

W C Earnshaw

M L Van Keuren

S E Antonarakis

Affiliations

Soon will be listed here.

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).

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