人类染色体2q端粒的序列组织

Sequence organization of the human chromosome 2q telomere.

作者信息

Macina R A, Negorev D G, Spais C, Ruthig L A, Hu X L, Riethman H C

机构信息

Wistar Institute, Philadelphia, PA 19104.

出版信息

Hum Mol Genet. 1994 Oct;3(10):1847-53. doi: 10.1093/hmg/3.10.1847.

DOI:10.1093/hmg/3.10.1847

PMID:7545974

Abstract

The terminal 240 kb of a human 2q telomere region was cloned in two overlapping yeast artificial-chromosomes (YACs). This DNA contains a region of low-copy subtelomeric repeats (within 50 kb of the 2q telomere), a segment of DNA duplicated on distal 8p23 (100 kb from the 2q telomere), and a region of single-copy DNA (230 kb from the 2q telomere). Two CpG islands are present in the DNA segment duplicated on distal 8p23. RecA-assisted restriction endonuclease cleavage of genomic DNA samples revealed a potential 55 kb chromosome length polymorphism at the 2q telomere. This work provides telomeric closure of maps for human chromosome 2q, demonstrates a novel, subtelomere-specific DNA duplication, and will permit detailed molecular and cytological studies of this human telomere region.

摘要

人类2号染色体q臂端粒区域末端的240 kb片段被克隆到两个重叠的酵母人工染色体（YAC）中。这段DNA包含一个低拷贝亚端粒重复区域（位于2号染色体q臂端粒50 kb范围内）、一段在8号染色体p臂远端23区重复的DNA片段（距离2号染色体q臂端粒100 kb）以及一个单拷贝DNA区域（距离2号染色体q臂端粒230 kb）。在8号染色体p臂远端23区重复的DNA片段中存在两个CpG岛。RecA辅助的基因组DNA样本限制性内切酶切割显示，2号染色体q臂端粒处存在一个潜在的55 kb染色体长度多态性。这项工作完成了人类2号染色体q臂端粒图谱的封闭，证明了一种新的、亚端粒特异性的DNA重复现象，并将有助于对该人类端粒区域进行详细的分子和细胞学研究。