Article
Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.
PLoS genetics - 1 Mar 2011
Alder Jonathan K, Cogan Joy D, Brown Andrew F, Anderson Collin J, Lawson William E, Lansdorp Peter M, Phillips John A, Loyd James E, Chen Julian J-L, Armanios Mary
Abstract excerpt
The telomerase reverse transcriptase synthesizes new telomeres onto chromosome ends by copying from a short template within its integral RNA component. During telomere synthesis, telomerase adds multiple short DNA repeats successively, a property known as repeat addition processivity. However, the consequences of defects in processivity on telomere length maintenance are not fully known. Germline mutations in...
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