Replication timing of homologous α-satellite DNA in Roberts syndrome

被引：0

作者：

Coutinho Barbosa A.C. ^{[1
]}

Otto P.A. ^{[1
]}

Vianna-Morgante A.M. ^{[1
]}

机构：

[1] Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, 05422-970 Sao Paulo, SP

来源：

Chromosome Research | 2000年 / 8卷 / 7期

基金：

巴西圣保罗研究基金会;

关键词：

Homologous centromere replication; Roberts syndrome; Sister chromatids cohesion;

D O I：

10.1023/A:1009246327122

中图分类号：

学科分类号：

摘要：

Roberts syndrome (RS) is associated with a characteristic constitutive heterochromatin anomaly, namely, at metaphase the centromeres and heterochromatic segments appear split. In addition to this cytogenetic phenomenon, known as the RS effect, several other cytological features, especially affecting mitotic chromosome disjunction, are also observed. Applying FISH to interphase nuclei, we investigated the replication patterns of homologous alphoid centromeric DNA of chromosomes 9, 11, 16 and 17 in three patients showing the RS effect and in four normal individuals. A tendency for homologous centromeres to replicate asynchronously was observed in RS patients. This tendency was more evident in chromosomes 9 and 16, with large heterochromatic blocks and particularly subject to RS effect. This asynchrony could reflect a more generalized alteration in repetitive DNA replication timing that, in turn, would prevent the establishment of proper cohesion between sister chromatid heterochromatin, leading to the RS effect.

引用

页码：645 / 650

页数：5

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