Friedberg E C
Laboratory of Molecular Pathology, Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75390-9072, USA.
Bioessays. 2001 Aug;23(8):671-3. doi: 10.1002/bies.1094.
The skin-cancer-prone hereditary disease xeroderma pigmentosum is typically characterized by defective nucleotide excision repair (NER) of DNA. However, since all subunits of the core basal transcription factor TFIIH are required for both RNA polymerase II basal transcription and NER, some mutations affecting genes that encode TFIIH subunits can result in clinical phenotypes associated with defective basal transcription. Among these is a syndrome called trichothiodystrophy (TTD) in which the prominent features are brittle hair and nails, and dry scaly skin. A recent study provides dramatic support for the so-called transcription hypothesis of TTD.(1) Specifically, several patients have been shown to carry a mutation in the XPD gene, which encodes a thermolabile form of XPD protein, resulting in loss of hair during febrile episodes.
易患皮肤癌的遗传性疾病着色性干皮病的典型特征是DNA的核苷酸切除修复(NER)存在缺陷。然而,由于核心基础转录因子TFIIH的所有亚基对于RNA聚合酶II基础转录和NER都是必需的,一些影响编码TFIIH亚基基因的突变可导致与基础转录缺陷相关的临床表型。其中一种是称为毛发硫营养不良(TTD)的综合征,其突出特征是头发和指甲脆弱,皮肤干燥有鳞屑。最近的一项研究为所谓的TTD转录假说提供了有力支持。(1)具体而言,已证明几名患者在XPD基因中携带突变,该基因编码一种热不稳定形式的XPD蛋白,导致发热期间脱发。