| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| Here , we describe the identification of the human TFB 5 ortholog and its association with human TFIIH . ^^^ The GTF2H5 gene product has a role in regulating the level of TFIIH . ^^^ A new , tenth TFIIH subunit ( TFB 5 ) was recently identified in yeast . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| Remarkably , both TTD A and XP D defects are associated with subunits of TFIIH , a basal transcription factor with a second function in DNA repair . ^^^ Thus , mutations in TFIIH components may , on top of a repair defect , also cause transcriptional insufficiency , which may explain part of the non XP clinical features of TTD . ^^^ These findings define a third TTD complementation group , extend the clinical heterogeneity associated with XP B , stress the exclusive relationship between TTD and mutations in subunits of repair / transcription factor TFIIH , and strongly support the concept of `` transcription syndromes . ' ' . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| Mutations in the basal transcription initiation / DNA repair factor TFIIH are responsible for three human disorders : xeroderma pigmentosum ( XP ) , cockayne syndrome ( CS ) and trichothiodystrophy ( TTD ) . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| The sun sensitive form of the severe neurodevelopmental , brittle hair disorder trichothiodystrophy ( TTD ) is caused by point mutations in the essential XPB and XPD helicase subunits of the dual functional DNA repair / basal transcription factor TFIIH . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| Sublimiting concentration of TFIIH transcription / DNA repair factor causes TTD A trichothiodystrophy disorder . ^^^ The repair deficient form of trichothiodystrophy ( TTD ) most often results from mutations in the genes XPB or XPD , encoding helicases of the transcription / repair factor TFIIH . ^^^ The genetic defect in a third group , TTD A , is unknown , but is also caused by dysfunctioning TFIIH . ^^^ None of the TFIIH subunits carry a mutation and TFIIH from TTD A cells is active in both transcription and repair . ^^^ Thus , the phenotype of TTD A appears to result from sublimiting amounts of TFIIH , probably due to a mutation in a gene determining the complex stability . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| In a third group of photosensitive patients , TTD A , no mutation has been identified , although TFIIH amount is reduced . . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| In UV sensitive TTD , the TFIIH transcription factor containing XPB and XPD helicase activities necessary for both transcription initiation and DNA repair is damaged . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| The observations made by clinicians close to XP , TTD and CS patients , suggested that transcription defects responsible for brittle hair and nails for TTD , or developmental abnormalities for CS , resulted from TFIIH mutations . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| Mutations in the XPD helicase component of TFIIH can result in the diverse clinical features associated with xeroderma pigmentosum ( XP ) and trichothiodystrophy ( TTD ) . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| Mutations in the XPD helicase gene result in XP and TTD phenotypes , preventing interaction between XPD and the p 44 subunit of TFIIH . ^^^ In most cases , xeroderma pigmentosum group D ( XP D ) and trichothiodystrophy ( TTD ) patients carry mutations in the carboxy terminal domain of the evolutionarily conserved helicase XPD , which is one of the subunits of the transcription / repair factor TFIIH ( refs 1 , 2 ) . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| Mutations in XPD helicase prevent its interaction and regulation by p 44 , another subunit of TFIIH , resulting in Xeroderma pigmentosum ( XP ) and trichothiodystrophy ( TTD ) phenotypes . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| TTD is a rare human genetic disease caused by mutations in XPB and XPD , two subunits of the transcription / repair factor TFIIH , and whose outstanding clinical characteristic is a lack of most human UHS proteins resulting in sulfur deficient brittle hair . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| We also show that TFIIH from TTD patients , but not from XP patients , exhibits a significant in vitro basal transcription defect in addition to a reduced intracellular concentration . ^^^ Moreover , when XPD mutations prevent interaction with the p 44 subunit of TFIIH , transactivation directed by certain nuclear receptors is inhibited , regardless of TTD versus XP phenotype , thus explaining the overlapping symptoms . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| Subtle differences in the effects of these different mutations on the many activities of TFIIH and on its stability determine the clinical outcomes , which can be XP , TTD , XP with CS , XP with TTD or COFS . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| Most repair deficient TTD patients are mutated in the XPD gene , a subunit of the transcription factor TFIIH . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| Therefore , genetic heterogeneity in nonphotosensitive TTD is a feature similar to that observed in photosensitive TTD , which is caused by mutations in transcription factor 2 H ( TFIIH ) subunit genes . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| The gene responsible for the TTD A group of the DNA repair deficient disease trichothiodystrophy has been identified as a small , 8 kDa , component of the transcription factor TFIIH which contributes to the stability and concentration of TFIIH in vivo . . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| Trichothiodystrophy ( TTD ) is a rare hereditary multisystem disorder associated with defects in nucleotide excision repair ( NER ) as a consequence of mutations in XPD , XPB or TTDA , three genes that are all related to TFIIH , the multiprotein complex involved in NER and transcription . ^^^ Here we show that all the mutations found in TTD cases , irrespective of whether they are homozygotes , hemizygotes or compound heterozygotes , cause a substantial and specific reduction ( by up to 70 % ) in the cellular concentration of TFIIH . ^^^ Intriguingly , the degree of reduction in the level of TFIIH does not correlate with the severity of the pathological phenotype , suggesting that the severity of the clinical features in TTD can not be related solely to the effects of mutations on the stability of TFIIH . ^^^ We have also measured TFIIH levels in cells in which different mutations in the XPD gene are associated with clinical symptoms not of TTD but of the highly cancer prone disorder xeroderma pigmentosum ( XP ) . ^^^ We conclude that the severity of the clinical features in TTD patients and the clinical outcome of differentially mutated XPD proteins is likely to depend both on the effects that each mutation has on the stability of TFIIH and on the transcriptional activity of the residual TFIIH complexes . . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| Mutations in some components of TFIIH are associated with three hereditary human syndromes : xeroderma pigmentosum ( XP ) , Cockayne syndrome ( CS ) and trichothiodystrophy ( TTD ) . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells . ^^^ Under non challenging conditions , TTDA is present in two distinct kinetic pools : one bound to TFIIH , and a free fraction that shuttles between the cytoplasm and nucleus . ^^^ After induction of NER specific DNA lesions , the equilibrium between these two pools dramatically shifts towards a more stable association of TTDA to TFIIH . ^^^ Surprisingly , DNA conformations that only provoke an abortive type of NER reaction do not result into a more stable incorporation of TTDA into TFIIH . ^^^ These findings identify TTDA as the first TFIIH subunit with a primarily NER dedicated role in vivo and indicate that its interaction with TFIIH reflects productive NER . . ^^^ |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| NA |
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| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| NA |
|
| Interacting proteins: Q6ZYL4 and Q92759 |
Pubmed |
SVM Score :0.0 |
| NA |
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