Fragile sites are nonstaining gaps in chromosomes induced by specific tissue culture conditions. They vary both in population frequency and in the culture conditions required for induction. Folate-sensitive fragile sites are due to expansion of p(CCG)(n) trinucleotide repeats; however, the relationship between sequence composition and the chemistry of induction of fragile sites is unclear. To clarify this relationship, the distamycin A- sensitive fragile site FRA16B was isolated by positional cloning and found to be an expanded 33 bp AT-rich minisatellite repeat, p(ATATATTATATATTATATCTAATAATATAT(C)/(A)TA)(n) (consistent with DNA sequence binding preferences of chemicals that induce its cytogenetic expression). Therefore the mutation mechanism associated with trinucleotide repeats is also a property of minisatellite repeats (variable number tandem repeats).
CITATION STYLE
Yu, S., Mangelsdorf, M., Hewett, D., Hobson, L., Baker, E., Eyre, H. J., … Richards, R. I. (1997). Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat. Cell, 88(3), 367–374. https://doi.org/10.1016/S0092-8674(00)81875-9
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