A TIN2 dyskeratosis congenita mutation causes telomerase-independent telomere shortening in mice.

Abstract excerpt

The progressive bone marrow failure syndrome dyskeratosis congenita (DC) is often caused by mutations in telomerase or the factors involved in telomerase biogenesis and trafficking. However, a subset of DC patients is heterozygous for mutations in the shelterin component TIN2. To determine how the TIN2-DC mutations affect telomere function, we generated mice with the equivalent of the TIN2 K280E DC allele...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Dyskeratosis Congenita
• Share to Fertility
• Share to Gene Knock-In Techniques