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Nature 413, 370-373 (27 September 2001) | doi:10.1038/35096663

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Human genetics: Testing telomerase

Robert Marciniak1 & Leonard Guarente2

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The molecular defect in the human disease dyskeratosis congenita is a reduction in function of telomerase. This discovery provides a direct test of the importance of this enzyme in ageing and cancer.

Dyskeratosis congenita is an inherited human disease from which sufferers die between the ages of 16 and 50. Problems tend to occur in tissues in which cells multiply rapidly — skin, nails, hair, gut and bone marrow — with death usually occurring as a result of bone-marrow failure.

  1. Robert Marciniak is in the Departments of Medicine and of Cellular and Structural Biology, University of Texas Health Science Center, San Antonio, Texas 78229, USA.
    e-mail: Email: marciniak@oncology.uthscsa.edu
  2. Leonard Guarente is in the Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.
    e-mail: Email: leng@mit.edu