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| IMPLICATIONS OF FRA16A STRUCTURE FOR THE MECHANISM OF CHROMOSOMAL FRAGILE SITE GENESIS |
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| Author(s): NANCARROW JK, KREMER E, HOLMAN K, EYRE H, DOGGETT NA, LEPASLIER D, CALLEN DF, SUTHERLAND GR, RICHARDS RI |
| Source: SCIENCE Volume: 264 Issue: 5167 Pages: 1938-1941 Published: JUN 24 1994 |
| Times Cited: 131 References: 30 |
| Abstract: 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), 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. WOMENS & CHILDRENS HOSP, CTR GENET MED, DEPT CYTOGENET & MOLEC GENET, ADELAIDE, SA 5006 AUSTRALIA
2. LOS ALAMOS NATL LAB, CTR HUMAN GENOME STUDIES, LOS ALAMOS, NM 87545 USA
3. LOS ALAMOS NATL LAB, DIV LIFE SCI, LOS ALAMOS, NM 87545 USA
4. CTR ETUD POLYMORPHISME HUMAIN, F-750101 PARIS, FRANCE |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: NT847 |
| ISSN: 0036-8075 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |