Linder B, Gerlach N, Jäckle H
Max-Planck-Institut für Biophysikalische Chemie, Abteilung Molekulare Entwicklungsbiologie, Am Fassberg 11, 37077 Göttingen, Germany.
EMBO Rep. 2001 Mar;2(3):211-6. doi: 10.1093/embo-reports/kve039.
In chromosomal rearrangements of acute myeloid leukaemia patients the mixed lineage leukaemia (MLL) gene, a human homolog of the Drosophila gene trithorax, is frequently fused to AF10. Here we describe the identification and a functional characterization of the Drosophila homolog dAF10. We show that dAF10 functions in heterochromatin-dependent genomic silencing of position effect variegation, a phenomenon associated with chromosomal rearrangements that cause mosaic expression of euchromatic genes when relocated next to heterochromatin. We also demonstrate that dAF10 can associate with the heterochromatin protein 1 (HP1) in vitro and in vivo. The results indicate that dAF10 is an HP1-interacting component of the heterochromatin-dependent gene silencing pathway, which either contributes to the stability of the heterochromatin complex or to its function.
在急性髓系白血病患者的染色体重排中，混合谱系白血病（MLL）基因（果蝇基因三体胸的人类同源物）常与AF10融合。在此，我们描述了果蝇同源物dAF10的鉴定及其功能特性。我们发现dAF10在位置效应斑驳的异染色质依赖性基因组沉默中发挥作用，这是一种与染色体重排相关的现象，当常染色质基因重定位到异染色质附近时会导致其镶嵌表达。我们还证明dAF10在体外和体内均可与异染色质蛋白1（HP1）结合。结果表明，dAF10是异染色质依赖性基因沉默途径中与HP1相互作用的组分，它要么有助于异染色质复合物的稳定性，要么有助于其功能。
