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Hot news: temperature‐sensitive humans explain hereditary disease
Author(s) -
Friedberg Errol C.
Publication year - 2001
Publication title -
bioessays
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.175
H-Index - 184
eISSN - 1521-1878
pISSN - 0265-9247
DOI - 10.1002/bies.1094
Subject(s) - transcription factor ii h , xeroderma pigmentosum , nucleotide excision repair , biology , genetics , rna polymerase ii , general transcription factor , transcription (linguistics) , cockayne syndrome , gene , dna repair , promoter , gene expression , linguistics , philosophy
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. BioEssays 23:671–673, 2001. © 2001 John Wiley & Sons, Inc.