Telomere loss: mitotic clock or genetic time bomb?

The Holy Grail of gerontologists investigating cellular senescence is the mechanism responsible for the finite proliferative capacity of somatic cells. In 1973, Olovnikov proposed that cells lose a small amount of DNA following each round of replication due to the inability of DNA polymerase to fully replicate chromosome ends (telomeres) and that eventually a critical deletion causes cell death. Recent observations showing that telomeres of human somatic cells act as a mitotic clock, shortening with age both in vitro and in vivo in a replication dependent manner, support this theory's premise. In addition, since telomeres stabilize chromosome ends against recombination, their loss could explain the increased frequency of dicentric chromosomes observed in late passage (senescent) fibroblasts and provide a checkpoint for regulated cell cycle exit. Sperm telomeres are longer than somatic telomeres and are maintained with age, suggesting that germ line cells may express telomerase, the ribonucleoprotein enzyme known to maintain telomere length in immortal unicellular eukaryotes. As predicted, telomerase activity has been found in immortal, transformed human cells and tumour cell lines, but not in normal somatic cells. Telomerase activation may be a late, obligate event in immortalization since many transformed cells and tumour tissues have critically short telomeres. Thus, telomere length and telomerase activity appear to be markers of the replicative history and proliferative potential of cells; the intriguing possibility remains that telomere loss is a genetic time bomb and hence causally involved in cell senescence and immortalization.

[1]  Benn Pa Specific chromosome aberrations in senescent fibroblast cell lines derived from human embryos. , 1976 .

[2]  C B Harley,et al.  Retesting the commitment theory of cellular aging. , 1980, Science.

[3]  V. Zakian,et al.  Telomere telomere recombination provides an express pathway for telomere acquisition , 1990, Nature.

[4]  L. Hartwell,et al.  Checkpoints: controls that ensure the order of cell cycle events. , 1989, Science.

[5]  W. Gilbert,et al.  Formation of parallel four-stranded complexes by guanine-rich motifs in DNA and its implications for meiosis , 1988, Nature.

[6]  V A Zakian,et al.  Structure and function of telomeres. , 1989, Annual review of genetics.

[7]  D. Röhme Evidence for a relationship between longevity of mammalian species and life spans of normal fibroblasts in vitro and erythrocytes in vivo. , 1981, Proceedings of the National Academy of Sciences of the United States of America.

[8]  C. Greider Telomeres, telomerase and senescence , 1990, BioEssays : news and reviews in molecular, cellular and developmental biology.

[9]  R. Allshire,et al.  Extensive telomere repeat arrays in mouse are hypervariable. , 1990, Nucleic acids research.

[10]  R. Myers,et al.  Structure and variability of human chromosome ends , 1990, Molecular and cellular biology.

[11]  T. Cech,et al.  Monovalent cation-induced structure of telomeric DNA: The G-quartet model , 1989, Cell.

[12]  A M Olovnikov,et al.  A theory of marginotomy. The incomplete copying of template margin in enzymic synthesis of polynucleotides and biological significance of the phenomenon. , 1973, Journal of theoretical biology.

[13]  D. Swinbanks Japan's angel tours the sky , 1990, Nature.

[14]  C. Epstein,et al.  Replicative life-span of cultivated human cells. Effects of donor's age, tissue, and genotype. , 1970, Laboratory investigation; a journal of technical methods and pathology.

[15]  L. Hayflick,et al.  The serial cultivation of human diploid cell strains. , 1961, Experimental cell research.

[16]  C. Harley,et al.  Telomeres shorten during ageing of human fibroblasts , 1990, Nature.

[17]  C. Harley Biology and Evolution of Aging: Implications for Basic Gerontological Health Research , 1988, Canadian Journal on Aging / La Revue canadienne du vieillissement.

[18]  S. Goldstein,et al.  Senescence of cultured human fibroblasts: mitotic versus metabolic time. , 1974, Experimental cell research.

[19]  C. Harley Aging of cultured human skin fibroblasts. , 1990, Methods in molecular biology.

[20]  R. Moyzis,et al.  Conservation of the human telomere sequence (TTAGGG)n among vertebrates. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[21]  Olovnikov Am Principle of marginotomy in template synthesis of polynucleotides , 1971 .

[22]  S. Goldstein The biology of aging. , 1971, The New England journal of medicine.

[23]  J. Walton The role of limited cell replicative capacity in pathological age change. A review , 1982, Mechanisms of Ageing and Development.

[24]  E. Blackburn,et al.  In vivo alteration of telomere sequences and senescence caused by mutated Tetrahymena telomerase RNAs , 1990, Nature.

[25]  G. Morin The human telomere terminal transferase enzyme is a ribonucleoprotein that synthesizes TTAGGG repeats , 1989, Cell.

[26]  A. Zahler,et al.  Telomere terminal transferase activity in the hypotrichous ciliate Oxytricha nova and a model for replication of the ends of linear DNA molecules. , 1988, Nucleic acids research.

[27]  D. Kipling,et al.  Hypervariable ultra-long telomeres in mice , 1990, Nature.

[28]  M. Dempster,et al.  Human telomeres contain at least three types of G-rich repeat distributed non-randomly. , 1989, Nucleic acids research.

[29]  G. Panfilis,et al.  An in vivo method of studying the kinetics of cell proliferation in normal human epidermis. , 1974, Acta dermato-venereologica.

[30]  E. Blackburn,et al.  Structure and function of telomeres , 1991, Nature.

[31]  J. R. Smith,et al.  Evidence for the recessive nature of cellular immortality. , 1983, Science.

[32]  D. Tse,et al.  Architectural organization in the interphase nucleus of the protozoan Trypanosoma brucei: location of telomeres and mini‐chromosomes. , 1990, The EMBO journal.

[33]  H. Maibach,et al.  Cell renewal in human epidermis. , 1965, Archives of dermatology.

[34]  M. Heenen,et al.  Autoradiographic analysis of cell kinetics in human normal epidermis and basal cell carcinoma. , 1973, Cancer research.

[35]  M D Shelby,et al.  Chromosomal aberration and sister-chromatid exchange frequencies in peripheral blood lymphocytes of a large human population sample. , 1988, Mutation research.

[36]  E. Blackburn,et al.  RNA-dependent polymerase motifs in EST1: Tentative identification of a protein component of an essential yeast telomerase , 1990, Cell.

[37]  George C. Williams,et al.  PLEIOTROPY, NATURAL SELECTION, AND THE EVOLUTION OF SENESCENCE , 1957, Science of Aging Knowledge Environment.

[38]  L. Hayflick THE LIMITED IN VITRO LIFETIME OF HUMAN DIPLOID CELL STRAINS. , 1965, Experimental cell research.

[39]  J. Shay,et al.  Reversible cellular senescence: implications for immortalization of normal human diploid fibroblasts , 1989, Molecular and cellular biology.

[40]  Robin C. Allshire,et al.  Telomere reduction in human colorectal carcinoma and with ageing , 1990, Nature.

[41]  J. Kirkland Evolution and ageing. , 1989, Genome.

[42]  V. Cristofalo,et al.  Cellular senescence and DNA synthesis. Thymidine incorporation as a measure of population age in human diploid cells. , 1973, Experimental cell research.

[43]  R. Kohn Principles of mammalian aging , 1971 .

[44]  L. S. Cram,et al.  A highly conserved repetitive DNA sequence, (TTAGGG)n, present at the telomeres of human chromosomes. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[45]  Z. Darżynkiewicz,et al.  Increased sensitivity of lymphocytes from people over 65 to cell cycle arrest and chromosomal damage. , 1983, Science.

[46]  H. Biessmann,et al.  Progressive loss of DNA sequences from terminal chromosome deficiencies in Drosophila melanogaster. , 1988, The EMBO journal.

[47]  K. Hirschhorn,et al.  EARLY CHROMOSOMAL CHANGES IN SV40-INFECTED HUMAN FIBROBLAST CULTURES. , 1964, Cytogenetics.

[48]  S. Cross,et al.  Cloning of human telomeres by complementation in yeast , 1989, Nature.

[49]  J. D. Watson Origin of Concatemeric T7DNA , 1972 .

[50]  E. Blackburn,et al.  A telomeric sequence in the RNA of Tetrahymena telomerase required for telomere repeat synthesis , 1989, Nature.

[51]  S. Bacchetti,et al.  Expression of SV40 large T antigen, but not small t antigen, is required for the induction of chromosomal aberrations in transformed human cells. , 1991, Virology.

[52]  C. Harley,et al.  Cultured human fibroblasts: Distribution of cell generations and a critical limit , 1978, Journal of cellular physiology.

[53]  R. Holliday Growth and death of diploid and transformed human fibroblasts. , 1975, Federation proceedings.

[54]  P. Kruse,et al.  Doubling potential, calendar time, and donor age of human diploid cells in culture. , 1973, Experimental cell research.

[55]  C. Greider Telomerase is processive , 1991, Molecular and cellular biology.

[56]  C B Harley,et al.  Telomere end-replication problem and cell aging. , 1992, Journal of molecular biology.

[57]  J. Szostak,et al.  A mutant with a defect in telomere elongation leads to senescence in yeast , 1989, Cell.

[58]  B. Mcclintock,et al.  The Stability of Broken Ends of Chromosomes in Zea Mays. , 1941, Genetics.

[59]  E. Blackburn The molecular structure of centromeres and telomeres. , 1984, Annual review of biochemistry.

[60]  C. C. Hardin,et al.  Telomeric DNA oligonucleotides form novel intramolecular structures containing guanine·guanine base pairs , 1987, Cell.

[61]  B. Stanulis-Praeger Cellular Senescence revisited: a review , 1987, Mechanisms of Ageing and Development.

[62]  Carol W. Greider,et al.  Identification of a specific telomere terminal transferase activity in tetrahymena extracts , 1985, Cell.

[63]  Carol W. Greider,et al.  The telomere terminal transferase of tetrahymena is a ribonucleoprotein enzyme with two kinds of primer specificity , 1987, Cell.

[64]  C. Potten,et al.  Epithelial stem cells in vivo , 1988, Journal of Cell Science.

[65]  S. Goldstein Replicative senescence: the human fibroblast comes of age. , 1990, Science.

[66]  V. Zakian,et al.  Recombination occurs during telomere formation in yeast , 1989, Nature.

[67]  George T. Baker,et al.  Biomarkers of aging , 1988, Experimental Gerontology.

[68]  M. Bender,et al.  Chromosomal aberration and sister-chromatid exchange frequencies in peripheral blood lymphocytes of a large human population sample. II. Extension of age range. , 1989, Mutation research.

[69]  H. Biessmann,et al.  Chromosome ends in Drosophila without telomeric DNA sequences. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[70]  R. Gleason,et al.  Chronologic and physiologic age affect replicative life-span of fibroblasts from diabetic, prediabetic, and normal donors. , 1978, Science.

[71]  W. Brown Molecular cloning of human telomeres in yeast , 1989, Nature.

[72]  E. Blackburn,et al.  Telomere terminal transferase activity from Euplotes crassus adds large numbers of TTTTGGGG repeats onto telomeric primers , 1989, Molecular and cellular biology.

[73]  R. Levis Viable deletions of a telomere from a Drosophila chromosome , 1989, Cell.

[74]  F. Traganos,et al.  Growth of immortal simian virus 40 tsA-transformed human fibroblasts is temperature dependent , 1989, Molecular and cellular biology.

[75]  S. Goldstein Aging in vitro: Growth of cultured cells from the Galapagos tortoise , 1974 .

[76]  L. Hayflick,et al.  Aging under glass. , 1970, Mutation research.