Hot news: Temperature-sensitive humans explain hereditary disease

Research output: Contribution to journalShort survey

6 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)671-673
Number of pages3
JournalBioEssays
Volume23
Issue number8
DOIs
StatePublished - Sep 11 2001

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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