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Recognition of a chromosome truncation site associated with α-thalassaemia by human telomerase

Nature volume 353, pages 454–456 (1991)Cite this article

Abstract

TELOMERES define the ends of chromosomes; they consist of short tandemly repeated DNA sequences loosely conserved in eukaryotes (G1–8T/A)1–4)1. Telomerase is a ribonucleoprotein which, in vitro, recognizes a single-stranded G-rich telomere primer and adds multiple telomeric repeats to its 3′ end by using a template in the RNA moiety2–6. In conjunction with other components, telomerase may balance the loss of telomeric repeats due to DNA replication7. Another role of telomerase may be the de novo formation of telomeres. In eukaryotes like Tetrahymena, this process is an integral part of the formation of macronuclear chromosomes8. In other eukaryotes this process stabilizes broken chromosomes. A case of human α-thalassaemia is caused by a truncation of chromosome 16 that has been healed by the addition of telomeric repeats (TTAGGG)n (ref. 9). Using an in vitro assay4, I show here that human telomerase correctly recognizes the chromosome 16 breakpoint sequence and adds (TTAGGG)n repeats. The DNA sequence requirements are minimal and seem to define two modes of DNA recognition by telomerase.

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Author notes

  1. Gregg B. Morin

    Present address: Department of Genetics, University of California, Davis, California, 95616, USA

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  1. Department of Molecular Biophysics and Biochemistry, Howard Hughes Medical Institute, Yale University, 333 Cedar Street, New Haven, Connecticut, 06510, USA

    Gregg B. Morin

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  1. Gregg B. Morin
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Morin, G. Recognition of a chromosome truncation site associated with α-thalassaemia by human telomerase. Nature 353, 454–456 (1991). https://doi.org/10.1038/353454a0

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