人类亚端粒重复序列的结构与转录分析

Cheng J F, Smith C L, Cantor C R

Human Genome Center, Lawrence Berkeley Laboratory, University of California, Berkeley 94720.

Nucleic Acids Res. 1991 Jan 11;19(1):149-54. doi: 10.1093/nar/19.1.149.

A human subtelomeric repeat (designated as the HST repeat) has been isolated and characterized from a yeast artificial chromosome containing one human telomere. This repeat is located immediately adjacent to the telomeric T2AG3 repeats at the extreme termini of the human chromosomes. The DNA sequence of 3.6 kb of the HST repeat has been determined. The HST repeat spans over 3.6 kb in length, and contains one evolutionarily conserved CpG-rich region. The copy number of the HST repeat varies among telomeres. Genomic hybridization experiments suggest that the HST repeat consists of two distinct segments, and the distal portions of the HST repeat are also distributed elsewhere in the genome. In HeLa cells, the HST repeat sequence appears to be transcribed into a 6 kb polyadenylated RNA and a variety of non-polyadenylated RNA species.

一种人类亚端粒重复序列（命名为HST重复序列）已从含有一个人类端粒的酵母人工染色体中分离并鉴定出来。该重复序列紧邻人类染色体极端末端的端粒T2AG3重复序列。已测定了HST重复序列3.6 kb的DNA序列。HST重复序列长度超过3.6 kb，包含一个进化上保守的富含CpG的区域。HST重复序列的拷贝数在不同端粒间有所变化。基因组杂交实验表明，HST重复序列由两个不同的片段组成，且HST重复序列的远端部分也分布于基因组的其他位置。在HeLa细胞中，HST重复序列似乎被转录成一种6 kb的多聚腺苷酸化RNA和多种非多聚腺苷酸化RNA种类。