人端粒重复序列结合因子基因组和假基因研究

目的：确定人端粒重复序列结合因子(TERF1)的基因组结构和假基因的定位与结构。方法：利用GenBank等生物信息学资源，NCBI提供的BLAST及其他相关的生物信息学工具(Sequencher，DNA Strider和Autoassembler等)，确定TERF1基因组和假基因的定位与结构，并用PCR和测序证实。结果：定位在8q13上的7TERF1基因组由10个外显子构成。它有4个假基因分别分布在第13、18、21和X染色体上(ΨTERF1-X、ΨTERF1-18、ΨTERF1-21和ΨTERF1-X)，其结构均与TERF1 mRNA相似，但缺少部分外显子。ΨTERF1-13、ΨTERF1-18和ΨTERF1-21的周边序列之间存在长度至少60kb的同源片段。结论：TERF1基因组合10个外显子，它有4个加工过的假基因分布在第13、18、21和X染色体上。大片段同源序列属近期重复片段中的染色体间倍增。

Study on the genome structure of human telomeric repeat binding factor 1 and its pseudogenes

OBJECTIVE: To determine the genome structure of human telomeric repeat binding factor 1 (TERF1) and its pseudogenes. METHODS: Sequences were obtained from GenBank and analyzed using the BLAST program and other relevant biology program (Sequencher, DNA Strider and Autoassembler, etc) to determine the genome and pseudogenome structure of TERF1. PCR and sequencing were performed to verify the results. RESULT: TERF1 gene which mapped to 8q13 was divided into 10 exons. It had four processed pseudogenes located on chromosome 13, 18, 21 and X respectively (Psi TERF1-13 Psi TERF1-18 Psi TERF1-21 and Psi TERF1-X ). They were entire intronless TERF1 genes which lacked some exons. Three homologous fragments of at least 60 kb on the flanking region of Psi TERF1-13, Psi TERF1-18 and Psi TERF1-21, respectively were noted. CONCLUSION: TERF1 gene has 10 exons. It has four processed pseudogenes which are located on chromosome 13, 18, 21, and X, respectively. Large homologous fragments that belong to the recently duplicated segments are transchromosomal duplications.