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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.

Original publication

DOI

10.1016/0092-8674(90)90293-n

Type

Journal article

Journal

Cell

Publication Date

05/10/1990

Volume

63

Pages

119 - 132

Keywords

Animals, Base Sequence, Cell Line, Chromosome Mapping, Chromosomes, Human, Cloning, Molecular, DNA, Humans, Hybrid Cells, Molecular Sequence Data, Nucleic Acid Hybridization, Polymorphism, Genetic, Restriction Mapping