IMPLICATIONS OF FRA16A STRUCTURE FOR THE MECHANISM OF CHROMOSOMAL FRAGILE SITE GENESIS

被引：142

作者：

NANCARROW, JK

KREMER, E

HOLMAN, K

EYRE, H

DOGGETT, NA

LEPASLIER, D

CALLEN, DF

SUTHERLAND, GR

RICHARDS, RI

机构：

[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

[3] LOS ALAMOS NATL LAB,DIV LIFE SCI,LOS ALAMOS,NM 87545

[4] CTR ETUD POLYMORPHISME HUMAIN,F-750101 PARIS,FRANCE

来源：

SCIENCE | 1994年 / 264卷 / 5167期

关键词：

D O I：

10.1126/science.8009225

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：1938 / 1941

页数：4

共 30 条

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