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Origin of human chromosome 2: an ancestral telomere-telomere fusion.

1991/10/15 by Jacob W. IJdo, Antonio Baldini, David C. Ward +2 · 2 citations
Agricultural and Biological Sciences · Medicine · Biochemistry, Genetics and Molecular Biology · #Chromosomal and Genetic Variations #Telomeres, Telomerase, and Senescence #Animal Genetics and Reproduction #Telomere #Cosmid #Biology #Genetics #Yeast artificial chromosome #Locus (genetics) #Chromosome #Fluorescence in situ hybridization #Molecular biology #DNA #Gene mapping #Gene

paper · doi:10.1073/pnas.88.20.9051

openalex publication_date 1991/10/15 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/15

Abstract

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.

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