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首页> 外文期刊>Genomics >Characterization of the gene encoding mouse retinoblastoma binding protein-7, a component of chromatin-remodeling complexes.
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Characterization of the gene encoding mouse retinoblastoma binding protein-7, a component of chromatin-remodeling complexes.

机译：编码小鼠视网膜母细胞瘤结合蛋白7（染色质重塑复合物的组成部分）的基因的表征。

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RBBP7 is a highly conserved WD-repeat protein that interacts with histone deacetylases and is a component of several co-repressor complexes. The mouse gene Rbbp7 spans approximately 20 kb, consists of at least 12 exons, and contains a C/T polymorphism in the 3' splice acceptor region of intron 3. We found that Rbbp7 contains a TATA-less promoter with multiple transcription initiation sites. In transient transfection assays, we identified potential positive regulatory elements upstream of the proximal promoter at -668 to -1710. RBBP7 protein is detectable from at least day 9.5 of embryogenesis and is strongly expressed in the developing kidney and brain. Consistent with its association with co-repressor complexes, we demonstrate that RBBP7 represses the c-FOS transactivation domain in response to mitogen stimulation. We have also excluded human RBBP7 as a candidate gene in six patients that exhibit X-linked mental retardation, a heterogeneous developmental disorder that has been linked in some cases to mutations in genes involved in chromatin remodeling.
机译：RBBP7是高度保守的WD重复蛋白，可与组蛋白脱乙酰基酶相互作用，并且是几种共阻遏物复合物的组成部分。小鼠基因Rbbp7跨度约为20 kb，至少由12个外显子组成，并在内含子3的3'剪接受体区域包含C / T多态性。我们发现Rbbp7包含无TATA的启动子，具有多个转录起始位点。在瞬时转染测定中，我们在-668至-1710处确定了近端启动子上游的潜在阳性调控元件。 RBBP7蛋白至少在胚胎发生9.5天即可检测到，并在发育中的肾脏和大脑中强烈表达。与它与共阻遏物复合物的关联一致，我们证明RBBP7抑制有丝分裂原刺激的c-FOS反式激活域。我们还排除了人类RBBP7作为六种表现出X连锁性智力低下的患者的候选基因，这是一种异质性发育障碍，在某些情况下已与染色质重塑相关基因的突变相关。

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