Zurita Mario, Merino Carlos
Dept of Developmental Genetics and Molecular Physiology, Instituto de Biotecnología, Universidad Nacional Autónoma de México, APDO-Postal 510-3, 62250, Cuernavaca Morelos, México.
Trends Genet. 2003 Oct;19(10):578-84. doi: 10.1016/j.tig.2003.08.005.
Mutations in some subunits of the basal DNA repair and transcription factor II H (TFIIH) are involved in several human genetic disorders. Transcription factor II H interacts with a variety of factors during transcription, including nuclear receptors, tissue-specific transcription factors, chromatin remodeling complexes and RNA, suggesting that, in addition to its essential role in transcription initiation, it also participates as a regulatory factor. Interpretation of the phenotypes produced by mutations in TFIIH is complicated by the recent finding that TFIIH plays a role in RNA polymerase I (RNA Pol I)-mediated transcription. In vitro reconstituted systems and genetic analysis suggest two possible explanations for the transcriptional phenotypes of TFIIH mutations that are not mutually excluding. The first is that different sets of genes require different levels of transcription to maintain a wild-type phenotype. The second suggests that mutations in TFIIH produce specific phenotypes arising from differential interactions of this complex with different transcription regulatory factors.
基础DNA修复和转录因子II H(TFIIH)的某些亚基突变与多种人类遗传疾病有关。转录因子II H在转录过程中与多种因子相互作用,包括核受体、组织特异性转录因子、染色质重塑复合物和RNA,这表明,除了其在转录起始中的关键作用外,它还作为一种调节因子发挥作用。TFIIH突变产生的表型的解释因最近发现TFIIH在RNA聚合酶I(RNA Pol I)介导的转录中起作用而变得复杂。体外重组系统和遗传分析为TFIIH突变的转录表型提出了两种可能的解释,这两种解释并非相互排斥。第一种是不同的基因集需要不同水平的转录来维持野生型表型。第二种解释是TFIIH中的突变产生了特定的表型,这些表型源于该复合物与不同转录调节因子的差异相互作用。