Human telomeres that contain (CTAGGG)n repeats show replication dependent instability in somatic cells and the male germline.

ABSTRACT: A number of different processes that impact on telomere length dynamics have been identified but factors that affect the turnover of repeats located proximally within the telomeric DNA are poorly defined. We have identified a particular repeat type (CTAGGG) that is associated with an extraordinarily high mutation rate (20% per gamete) in the male germline. The mutation rate is affected by the length and sequence homogeneity of the (CTAGGG)n array. This level of instability was not seen with other sequence-variant repeats, including the TCAGGG repeat type that has the same composition. Telomeres carrying a (CTAGGG)n array are also highly unstable in somatic cells with the mutation process resulting in small gains or losses of repeats that also occasionally result in the deletion of the whol

SUBMITTER: Mendez-Bermudez A 

PROVIDER: S-EPMC2764434 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature