Cell
Volume 63, Issue 1, 5 October 1990, Pages 119-132
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Article
Structure and polymorphism of human telomere-associated DNA

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Abstract

We have analyzed the DNA sequences associated with four different human telomeres. Two are members of distinct repeated sequence families which are located mainly but not exclusively at telomeres. Two are unique in the genome, one deriving from the long arm telomere of chromosome 7 and the other from the pseudoautosomal telomere. One telomere-associated repeated sequence has a polymorphic distribution among the chromosome ends, being present at a different combination of ends in different individuals. These data thus identify a new source of human genetic variation and indicate that the canonical features of the organization of telomere-associated DNA are widely conserved in evolution.

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    §

    Present address: Centro de Biologia Molecular (CSIC-UAM), Cantoblanco, 28049 Madrid, Spain.

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