Origin of human chromosome 2: An ancestral telomere-telomere fusion

J. W. Ijdo, A. Baldini, D. C. Ward, S. T. Reeders, R. A. Wells

Research output: Contribution to journalArticlepeer-review

319 Scopus citations


We have identified two allelic genomic cosmids from human chromosome 2, c8.1 and c29B, each containing two inverted arrays of the vertebrate telomeric repeat in a head-to-head arrangement, 5′(TTAGGG)n-(CCCTAA)m3′. Sequences flanking this telomeric repeat are characteristic of present-day human pretelomeres. BAL-31 nuclease experiments with yeast artificial chromosome clones of human telomeres and fluorescence in situ hybridization reveal that sequences flanking these inverted repeats hybridize both to band 2q13 and to different, but overlapping, subsets of human chromosome ends. We conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2.

Original languageEnglish (US)
Pages (from-to)9051-9055
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number20
StatePublished - Oct 15 1991
Externally publishedYes


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