Pathology of telomerases (Telomerase disease)

 cancer

 X-linked, autosomal dominant forms of congenital dyskeratosis

• The X-linked form is due to mutations in the DKC1 gene at Xq28. The encoded protein, dyskerin, is a component of both small nucleolar ribonuclear protein particles and the telomerase complex. Mutations in DKC1 mainly lead to amino acid substitutions.
• The autosomal dominant form of the disease is due to mutations in hTR, the RNA component of telomerase, making it likely that the disease is due to defective telomerase activity. Mutations in hTR are predicted to either disrupt secondary structure or alter the template region.

recessive forms : no genes known (2003)

References

 Blasco MA, Hahn WC. Evolving views of telomerase and cancer. Trends Cell Biol. 2003 Jun;13(6):289-94. PMID: #12791294#

 Blasco MA. Telomerase beyond telomeres. Nat Rev Cancer. 2002 Aug ;2(8):627-33. PMID : #12154355#

 Shay JW, Zou Y, Hiyama E, Wright WE. Telomerase and cancer. Hum Mol Genet. 2001 Apr;10(7):677-85. PMID: #11257099#

 Ostler EL, Wallis CV, Aboalchamat B, Faragher RG. Telomerase and the cellular lifespan: implications of the aging process. J Pediatr Endocrinol Metab. 2000;13 Suppl 6:1467-76. PMID: #11202223#

 Greider CW. Telomerase activation. One step on the road to cancer? Trends Genet. 1999 Mar;15(3):109-12. PMID: #10203808#

 Kipling D. Mammalian telomerase: catalytic subunit and knockout mice. Hum Mol Genet. 1997 Nov;6(12):1999-2004. PMID: #9328462#