Telomeres are specialized protein-DNA constructs present at the ends of eukaryotic chromosomes, which prevent them from degradation and end-to-end chromosomal fusion. To conceptually introduce them, introductory biology courses often describe them as a type of chromosomal aglet. Most vertebrate telomeric DNA consists of long (TTAGGG)n repeats of variable length, often around 3-20kb. Loss of telomeric DNA through repeated cycles of cell division is associated with senescence or somatic cell aging. In contrast, germ line and cancer cells which are immortal possess a telomerase enzyme which prevents this telomere degradation and maintains telomere integrity.
Subtelomeres then, are segments of DNA "sub-" or "below" these telomeric caps. These subtelomeric regions are immediately adjacent to the long (TTAGGG)n repeats and also contain repetitive stretches of DNA. In the context of chromosomal analysis, subtelomeres are considered to be the most distal (furthest from the centromere) region of unique DNA on a chromosome.
Recently, subtelomeres have garnered increased attention as research has implicated unbalanced subtelomere rearrangements as a contributing factor in idiopathic mental retardation and other genetic disorders.
Although not drawn proportionately to scale, this image should provide some idea of chromosomal geography. File:Subtelomere copy.jpg
- The flow of genetic information -- see Table 5.5