Chromosome fragile sites

  • Yoder F
  • Vincent R
  • Morgan S
 et al. 
  • 349

    Readers

    Mendeley users who have this article in their library.
  • 1

    Citations

    Citations of this article.

Abstract

Chromosomal fragile sites are specific loci that preferentially exhibit gaps and breaks on metaphase chromosomes following partial inhibition of DNA synthesis. Their discovery has led to novel findings spanning a number of areas of genetics. Rare fragile sites are seen in a small proportion of individuals and are inherited in a Mendelian manner. Some, such as FRAXA in the FMR1 gene, are associated with human genetic disorders, and their study led to the identification of nucleotide-repeat expansion as a frequent mutational mechanism in humans. In contrast, common fragile sites are present in all individuals and represent the largest class of fragile sites. Long considered an intriguing component of chromosome structure, common fragile sites have taken on novel significance as regions of the genome that are particularly sensitive to replication stress and that are frequently rearranged in tumor cells. In recent years, much progress has been made toward understanding the genomic features of common fragile s...

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document

Authors

  • Freda E. Yoder

  • Russell A. Vincent

  • Samuel K. Morgan

  • Owen C. Grush

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free