Cserpán Imre, Katona Róbert, Praznovszky Tünde, Novák Edit, Rózsavölgyi Márta, Csonka Erika, Mórocz Mónika, Fodor Katalin, Hadlaczky Gyula
Institute of Genetics, Biological Research Center of the Hungarian Academy of Sciences, Szeged, Temesvári krt. 62, H-6701 Szeged, P.O.B. 521, Hungary.
Nucleic Acids Res. 2002 Jul 1;30(13):2899-905. doi: 10.1093/nar/gkf382.
We have investigated the large-scale organization of the human chAB4-related long-range multisequence family, a low copy-number repetitive DNA located in the pericentromeric heterochromatin of several human chromosomes. Analysis of genomic clones revealed large-scale ( approximately 100 kb or more) sequence conservation in the region flanking the prototype chAB4 element. We demonstrated that this low copy-number family is connected to another long-range repeat, the NF1-related (PsiNF1) multisequence. The two DNA types are joined by an approximately 2 kb-long tandem repeat of a 48-bp satellite. Although the chAB4- and NF1-like sequences were known to have essentially the same chromosomal localization, their close association is reported here for the first time. It indicates that they are not two independent long-range DNA families, but are parts of a single element spanning approximately 200 kb or more. This view is consistent both with their similar chromosomal localizations and the high levels of sequence conservation among copies found on different chromosomes. We suggest that the master copy of the linked chAB4-PsiNF1 DNA segment appeared first on the ancestor of human chromosome 17.
我们研究了人类chAB4相关的长程多序列家族的大规模组织情况,该家族是一种低拷贝数的重复DNA,位于几个人类染色体的着丝粒周围异染色质中。对基因组克隆的分析揭示了原型chAB4元件侧翼区域存在大规模(约100 kb或更长)的序列保守性。我们证明了这个低拷贝数家族与另一个长程重复序列NF1相关(PsiNF1)多序列相连。这两种DNA类型通过一个约2 kb长的48 bp卫星串联重复序列连接在一起。尽管已知chAB4样序列和NF1样序列在染色体上的定位基本相同,但它们的紧密关联在此首次被报道。这表明它们不是两个独立的长程DNA家族,而是一个跨越约200 kb或更长的单一元件的组成部分。这一观点与它们相似的染色体定位以及在不同染色体上发现的拷贝之间的高度序列保守性均相符。我们认为,相连的chAB4 - PsiNF1 DNA片段的主拷贝最早出现在人类17号染色体的祖先上。