Human telomeres and telomere biology disorders

SA Savage - Progress in molecular biology and translational …, 2014 - Elsevier
Telomeres consist of long nucleotide repeats and a protein complex at chromosome ends
essential for chromosome stability. Telomeres shorten with each cell division and thus are
markers of cellular age. Dyskeratosis congenita (DC) is a cancer-prone inherited bone
marrow failure syndrome caused by germ-line mutations in key telomere biology genes that
result in extremely short telomeres. The triad of nail dysplasia, abnormal skin pigmentation,
and oral leukoplakia is diagnostic of DC but highly variable. Patients with DC may also have …