Kogi M, Fukushige S, Lefevre C, Hadano S, Ikeda J E
Ikeda Genosphere Project, ERATO, JRDC, Tokai University School of Medicine, Kanagawa, Japan.
Genomics. 1997 Jun 1;42(2):278-83. doi: 10.1006/geno.1997.4746.
In an effort to analyze the genomic region of the distal half of human chromosome 4p, to where Huntington disease and other diseases have been mapped, we have isolated the cosmid clone (CRS447) that was likely to contain a region with specific repeat sequences. Clone CRS447 was subjected to detailed analysis, including chromosome mapping, restriction mapping, and DNA sequencing. Chromosome mapping by both a human-CHO hybrid cell panel and FISH revealed that CRS447 was predominantly located in the 4p15.1-15.3 region. CRS447 was shown to consist of tandem repeats of 4.7-kb units present on chromosome 4p. A single EcoRI unit was subcloned (pRS447), and the complete sequence was determined as 4752 nucleotides. When pRS447 was used as a probe, the number of copies of this repeat per haploid genome was estimated to be 50-70. Sequence analysis revealed that it contained two internal CA repeats and one putative ORF. Database search established that this sequence was unreported. However, two homologous STS markers were found in the database. We concluded that CRS447/pRS447 is a novel tandem repeat sequence that is mainly specific to human chromosome 4p.
为了分析人类4号染色体短臂远端的基因组区域（亨廷顿舞蹈症和其他疾病已被定位到该区域），我们分离出了可能包含具有特定重复序列区域的黏粒克隆（CRS447）。对克隆CRS447进行了详细分析，包括染色体定位、限制性图谱分析和DNA测序。通过人类-中国仓鼠卵巢（CHO）杂交细胞系和荧光原位杂交（FISH）进行的染色体定位显示，CRS447主要位于4p15.1 - 15.3区域。结果表明，CRS447由4号染色体短臂上存在的4.7kb单位的串联重复序列组成。将单个EcoRI单位亚克隆（pRS447），并确定其完整序列为4752个核苷酸。当使用pRS447作为探针时，估计每个单倍体基因组中该重复序列的拷贝数为50 - 70。序列分析表明，它包含两个内部CA重复序列和一个推定的开放阅读框（ORF）。数据库搜索表明该序列未被报道。然而，在数据库中发现了两个同源的序列标签位点（STS）标记。我们得出结论，CRS447/pRS447是一种新型的串联重复序列，主要特异性地存在于人类4号染色体短臂上。
