Telomere dynamics in mice and humans

Semin Hematol. 2013 Apr;50(2):165-74. doi: 10.1053/j.seminhematol.2013.03.030.

Abstract

Telomeres are ribonucleoprotein structures capping the end of every linear chromosome. In all vertebrates, they are composed of TTAGGG repeats coated with specific protecting proteins. Telomeres shorten with each mitotic cell division, but telomerase, a reverse transcriptase, elongate telomeres in very specific cells, such as embryonic and adult stem cells. Although telomere sequence is identical in mice and humans and telomeres serve the same role of protecting chromosomes and genetic information from damage and erosion in both species, abnormalities in telomere maintenance and in telomerase function do not coincide in phenotype in humans and mice. The telomeres of most laboratory mice are 5 to 10 times longer than in humans, but their lifespan is 30 times shorter. Complete absence of telomerase has little expression in phenotype over several generations in mice, whereas heterozygosity for telomerase mutations in humans is sufficient to result in organ regeneration defect and cancer development. Patients with telomerase deficiency and very short telomeres may develop aplastic anemia, pulmonary fibrosis, or cirrhosis, whereas telomerase-null murine models display only modest hematopoietic deficiency and develop emphysema when exposed to cigarette smoke. In summary, telomerase deficiency in both humans and mice accelerate telomere shortening, but its consequences in the different organs and in the organism diverge, mainly due to telomere length differences.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Aging
  • Animals
  • Humans
  • Mice
  • Mutation
  • Neoplasms / genetics
  • Neoplasms / metabolism
  • Phenotype
  • Telomerase / genetics
  • Telomerase / metabolism
  • Telomere / metabolism*

Substances

  • Telomerase