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Science 24 June 1994:
Vol. 264. no. 5167, pp. 1938 - 1941
DOI: 10.1126/science.8009225
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Articles
Science, Vol 264, Issue 5167, 1938-1941
Copyright © 1994 by American Association for the Advancement of Science
Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis
JK Nancarrow,
E Kremer,
K Holman,
H Eyre,
NA Doggett,
D Le Paslier,
DF Callen,
GR Sutherland,
and
RI Richards
Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, South Australia.
Fragile sites are chemically induced nonstaining gaps in chromosomes. Different fragile sites vary in frequency in the population and in the chemistry of their induction. DNA sequences encompassing and including the rare, autosomal, folate-sensitive fragile site, FRA16A, were isolated by positional cloning. The molecular basis of FRA16A was found to be expansion of a normally polymorphic p(CCG)n repeat. This repeat was adjacent to a CpG island that was methylated in fragile site-expressing individuals. The FRA16A locus in individuals who do not express the fragile site is not a site of DNA methylation (imprinting), which suggests that the methylation associated with fragile sites may be a consequence and not a cause of their genesis.
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