Demakova O V, Beliaeva E S, Zhimulev I F
Institute of Cytology and Genetics, Russian Academy of Sciences, Novosibirsk, Russia.
Genetika. 1998 May;34(5):629-34.
The position effect of the cubitus interruptus (ci) gene occurs when this gene, which is normally located in the vicinity of the pericentric heterochromatin of chromosome 4, is transferred by chromosome rearrangements to euchromatin regions. Cytological aspects of this phenomenon were investigated. For six reciprocal translocations causing the position effect (Dubinin effect) of ci, the frequencies of the ectopic contacts of the translocated chromosome 4 homologue with pericentric heterochromatin were compared to the conjugation frequencies of this chromosome's homologues. The frequencies were significantly higher when the gene was transferred to proximal chromosome regions. This suggested that the suppression of the Dubinin effect in the case of translocations with euchromatin breaks in proximal chromosome regions is caused by the higher conjugation frequency of translocated and normal chromosome 4 homologues in proximal than in distal regions. The effect of genes modulo and Su(var)2-05, which are known as modifiers of the position effect variegation, on the conjugation frequency of chromosome 4 homologues was studied for three translocations. It was shown that modulo did not affect this frequency, whereas Su(var)205 significantly decreased it. Cytogenetic data confirmed the association of the ci position effect with damage in the somatic pairing of chromosome 4 homologues. These data indicate that pericentric heterochromatin participates in determination of the localization of chromosome regions in the interphase nucleus.
当通常位于4号染色体着丝粒周围异染色质附近的肘脉中断(ci)基因通过染色体重排转移到常染色质区域时,就会发生该基因的位置效应。对这一现象的细胞学方面进行了研究。对于导致ci位置效应(杜比宁效应)的六种相互易位,将易位的4号染色体同源物与着丝粒周围异染色质的异位接触频率与该染色体同源物的联会频率进行了比较。当基因转移到近端染色体区域时,这些频率显著更高。这表明,在近端染色体区域发生常染色质断裂的易位情况下,杜比宁效应的抑制是由于近端区域的易位和正常4号染色体同源物的联会频率高于远端区域。针对三种易位,研究了已知为位置效应斑驳修饰因子的modulo和Su(var)2-05基因对4号染色体同源物联会频率的影响。结果表明,modulo不影响该频率,而Su(var)205显著降低了该频率。细胞遗传学数据证实了ci位置效应与4号染色体同源物体细胞配对损伤之间的关联。这些数据表明,着丝粒周围异染色质参与了间期核中染色体区域定位的确定。