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Figure 1 | Cell Division

Figure 1

From: On the traces of XPD: cell cycle matters - untangling the genotype-phenotype relationship of XPD mutations

Figure 1

The genetic causes of the different NER syndromes are depicted on this table. XP, xeroderma pigmentosum; XP+ND, xeroderma pigmentosum with neurological disease; TTD, trichothiodystrophy; XP-TTD, complex syndrome with phenotypic manifestations of both XP and TTD; COFS, cerebro oculo facial skeletal syndrome; CS, Cockayne syndrome; XP-CS, complex syndrome with phenotypic manifestations of both XP and CS. a Includes the cases described as DeSanctis Cacchione (DSC) syndrome. b Only in rare cases.

Mutations in genes encoding components of the GG-NER pathway (light green) cause the XP syndrome or the one of the three complex syndromes XP+ND, XP-TTD and XP-CS, all of which are characterized by increased cancer incidence. Mutations in genes specifically involved in the TC-NER branch (dark green) are associated with CS or the more severe COFS syndrome. Mutations affecting the XPD, XPB or TTDA subunits of the TFIIH complex (blue), which intervenes in a common step of NER, affect both pathways in addition to transcription and lead to TTD. Reflecting the central role of TFIIH in the common steps of NER, in transcription and in regulation of the cell cycle, mutations in its components (and in particular of XPD) are found in most of the syndromes.

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