IJdo J W, Baldini A, Ward D C, Reeders S T, Wells R A
Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510.
Proc Natl Acad Sci U S A. 1991 Oct 15;88(20):9051-5. doi: 10.1073/pnas.88.20.9051.
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.
我们从人类2号染色体中鉴定出两个等位基因基因组黏粒，即c8.1和c29B，每个黏粒都包含两个以头对头排列的脊椎动物端粒重复序列的反向阵列，5'(TTAGGG)n-(CCCTAA)m3'。该端粒重复序列两侧的序列是当今人类前末端的特征。用人端粒的酵母人工染色体克隆进行的BAL-31核酸酶实验以及荧光原位杂交表明，这些反向重复序列两侧的序列既与2q13带杂交，也与人类染色体末端不同但重叠的子集杂交。我们得出结论，黏粒c8.1和c29B中克隆的位点是古代端粒-端粒融合的遗迹，标志着两条祖先猿染色体融合形成人类2号染色体的点。
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