PMC

Telomere length measurement in subjects with TINF2 mutations. Age-adjusted Δtel measurements from Southern blot analysis. A comparison is made among all subjects with TINF2 missense mutations (dark blue diamonds), those with Arg282 substitutions (pink circles), frameshift and nonsense mutations (green squares), the polymorphic Gly237Asp substitution (red diamonds) and other missense mutations (blue triangles). Data points with open symbols are from a previous study (), while data points obtained in the current study are shown as filled symbols. Also shown are the median (green dotted line) and the 1st centile (red dotted line) of the normal range, established from 176 healthy controls (HC, grey circles).

Alignment of vertebrate TIN2 protein sequences. Alignment was obtained using the clustal 2.0.12 multiple sequence alignment program and printed in boxshade. Residues are highlighted if more than 50% are identical (white on black) or similar (white on grey) to each other at any one position. The region shown extends from the beginning of the telomeric repeat binding factor 1-binding domain of human TIN2 (residues 196–275), and finishes at human residue 334. Amino acids found to be substituted in patients with dyskeratosis congenita and their relatives are highlighted as follows: those associated with normal telomere lengths are shown with a black diamond, those associated with short telomeres are shown with a bold asterisk, and those with unknown telomere lengths shown with a + sign. Every 10th amino acid is highlighted by a dot.