人端粒重复序列结合因子基因组和假基因研究  

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

作　　者：孙洁[1] 黄河[1] 宋怀东[2] 吴昕彦[2] 

机构地区：[1]浙江大学医学院附属第一医院,浙江杭州310003 [2]上海瑞金医院,上海200025

出　　处：《浙江大学学报（医学版）》2003年第5期407-411,共5页Journal of Zhejiang University(Medical Sciences)

基　　金：国家自然科学基金 (39870 339);浙江省自然科学基金 (39914 1)

摘　　要：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 Gen Bank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 TERF1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、2 1和 X染色体上 (Ψ TERF1- 13、Ψ TERF1- 18、Ψ TERF 1- 2 1和Ψ TERF1- X) ,其结构均与 TERF1m RNA相似 ,但缺少部分外显子。Ψ TERF1- 13、Ψ TERF 1- 18和Ψ TERF1- 2 1的周边序列之间存在长度至少 6 0 kb的同源片段。结论 :TERF1基因组含 10个外显子 ,它有 4个加工过的假基因分布在第13、18、2 1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。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. Results: 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(ΨTERF1-13,ΨTERF1-18,ΨTERF1-21 and ΨTERF1-X). They were entire intronless TERF1 genes which lacked some exons. Three homologous fragments of at least 60 kb on the flanking region of ΨTERF1-13, ΨTERF1-18 and ΨTERF1-21, 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.

关 键 词：端粒重复序列结合因子 外显子 假基因 

分 类 号：R730.23[医药卫生—肿瘤]