Breakpoints in Robertsonian translocations are localized to satellite III DNA by fluorescence in situ hybridization

Journal Article · Tue Dec 01 04:00:00 EST 1992 · Genomics; (United States)

DOI:https://doi.org/10.1016/S0888-7543(05)80113-2· OSTI ID:6758592

Gravholt, C H; Friedrich, U; Caprani, M; Jorgensen, A L ^[1]

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1. Psychiatric Hospital in Aarhus, Risskov (Denmark)

The authors characterized 21 t(13;14) and 3 t(14;21) Robertsonian translocations for the presence of DNA derived from the short arms of the translocated acrocentric chromosomes and identified their centromeres. Nineteen of these 24 translocation carriers were unrelated. Using centromeric [alpha]-repeat DNA as chromosome-specific probe, they found by in situ hybridization that all 24 translocation chromosomes were dicentric. The chromatin between the two centromeres did not stain with silver, and no hybridization signal was detected with probes for rDNA or [beta]-satellite DNA that flank the distal and proximal ends of the rDNA region on the short arm of the acrocentrics. By contrast, all 24 translocation chromosomes gave a distinct hybridization signal when satellite III DNA was used as probe. This result strongly suggests that the chromosomal rearrangements leading to Robertsonian translocations occur preferentially in satellite III DNA. The authors hypothesize that guanine-rich satellite III repeats may promote chromosomal recombination by formation of tetraplex structures. The findings localize satellite III DNA to the short arm of the acrocentric chromosomes distal to centromeric [alpha]-repeat DNA and proximal to [beta]-satellite DNA. 32 refs., 4 figs., 2 tabs.

• OSTI ID: 6758592
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 14:4; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BIOTECHNOLOGY
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
DNA HYBRIDIZATION
GENE RECOMBINATION
GENETIC ENGINEERING
HUMAN CHROMOSOME 21
HUMAN CHROMOSOME 3
HUMAN CHROMOSOMES
HYBRIDIZATION
MUTATIONS
NUCLEIC ACID HYBRIDIZATION