Telomeres Flashcards
what are telomeres?
REPEAT seqs bw 5-26 bps; can repeat a few times or a few thousand times
telomerase general info
aka TERT; a ribonucleoprotein; a reverse transcriptase; works ina 5’ 3’ direction
what is dyskeratosis congenita?
reduced TERC/TERT; autosomal and X-link mutations; progeria-like symptoms–rapidly proliferating ells senesce, higher incidence of cancer and chromosomal fusion
werner syndrome
much more severe progeria, more closely resembling normal aging; loss of WRN gene–>a helicase and exonuclease; two known activities relevant to telomere maintenance: unwinding tetraplex DNA and displacing D loops; if replisome cannot unwind 4plex DNA, there will be problems and telomeres will rapidly shorten