ERCC2

ERCC2
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	5IY9, 5IVW, 5IY7, 5IY8, 5IY6
Identifikatori
Aliasi	ERCC2
Vanjski ID-jevi	OMIM: 126340 MGI: 95413 HomoloGene: 344 GeneCards: ERCC2
Lokacija gena (čovjek)
Hrom.	Hromosom 19 (čovjek)
Kraj	45,370,918 bp
Lokacija gena (miš)
Hrom.	Hromosom 7 (miš)
Kraj	19,129,619 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• vezivanje sa DNK; • 4 iron, 4 sulfur cluster binding; • protein kinase activity; • ATP-dependent activity, acting on DNA; • nucleotide binding; • GO:0008026 helicase activity; • protein N-terminus binding; • iron-sulfur cluster binding; • GO:0004003 DNA helicase activity; • vezivanje iona metala; • GO:0102490, GO:0102491, GO:0102489, GO:0102488, GO:0102487, GO:0102486, GO:0102485 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides; • protein C-terminus binding; • GO:0001948, GO:0016582 vezivanje za proteine; • nucleic acid binding; • RNA polymerase II CTD heptapeptide repeat kinase activity; • GO:0043141 5'-3' DNA helicase activity; • hydrolase activity; • ATP binding; • oštećeno vezivanje sa DNK; • protein-macromolecule adaptor activity;
Ćelijska komponenta	• citoplazma; • cyclin-dependent protein kinase activating kinase holoenzyme complex; • Diobeno vreteno; • transcription factor TFIIH holo complex; • GO:0000441 transcription factor TFIIH core complex; • citoskelet; • jedro; • MMXD complex; • nukleoplazma; • transcription factor TFIID complex; • citosol; • CAK-ERCC2 complex;
Biološki proces	• termination of RNA polymerase I transcription; • regulation of mitotic cell cycle phase transition; • bone mineralization; • hair cycle process; • response to hypoxia; • GO:0009373 regulation of transcription, DNA-templated; • embryonic cleavage; • hair follicle maturation; • multicellular organism growth; • hromosomska segregacija; • transcription initiation from RNA polymerase I promoter; • transcription elongation from RNA polymerase II promoter; • hair cell differentiation; • GO:0010260 starenje; • extracellular matrix organization; • in utero embryonic development; • 7-methylguanosine mRNA capping; • transcription by RNA polymerase II; • post-embryonic development; • GO:0001306 response to oxidative stress; • transcription, DNA-templated; • cellular response to DNA damage stimulus; • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated; • global genome nucleotide-excision repair; • hematopoietic stem cell differentiation; • spinal cord development; • UV protection; • positive regulation of DNA binding; • central nervous system myelin formation; • transcription-coupled nucleotide-excision repair; • transcription initiation from RNA polymerase II promoter; • Ćelijska proliferacija; • nucleotide-excision repair, DNA incision; • nucleobase-containing compound metabolic process; • response to UV; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II; • skin development; • erythrocyte maturation; • GO:0097285 apoptoza; • Popravak ekscizijom nukleotida; • nucleotide-excision repair, preincision complex stabilization; • GO:0100026 Popravka DNK; • GO:0022415 viral process; • protein phosphorylation; • nucleotide-excision repair, preincision complex assembly; • nucleotide-excision repair, DNA incision, 5'-to lesion; • embryonic organ development; • DNA duplex unwinding; • regulation of mitotic recombination; • nucleotide-excision repair, DNA duplex unwinding; • positive regulation of mitotic recombination; • nucleotide-excision repair, DNA incision, 3'-to lesion; • GO:0001183 transcription elongation from RNA polymerase I promoter;
	Izvori:Amigo / QuickGO
Ortolozi
	2068
	13871
	ENSG00000104884
	ENSMUSG00000030400
	P18074
	O08811
	NM_000400; NM_001130867
	NM_007949; NM_001363981
	NP_000391; NP_001124339
	NP_031975; NP_001350910
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

ERCC2 ili XPD jest protein koji je kod ljudi kodiran genom XPD sa hromosoma 19. Uključen je u transkripcijski spregnuti ekscizijski popravak nukleotida.

Gen XPD (ERCC2) kodira iRNK od 2,3 kb koja sadrži 22 egzona i 21 intron. XPD protein sadrži 760 aminokiselina i polipeptid je veličine 87 kDa. Defekti ovog gena mogu dovesti do tri različita poremećaja: sindrom sklon raku xeroderma pigmentosum, komplementarne grupe D, fotosenzitivnoj trihotiodistrofiji i Cockayneovom sindromu.^[5]

Baš kao i XPB, XPD je dio inicijacijskog faktora TFIIH ljudske transkripcije i ima aktivnost zavisnu od ATP-helikaza.^[6] Pripada potporodici RAD3/XPD helikaza.

XPD je neophodan za održivost ćelija. Delecija XPD kod miševa je smrtonosna za razvoj embriona.^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 760 aminokiselina, a molekulska težina 86.909 Da.^[6]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MKLNVDGLLV	YFPYDYIYPE	QFSYMRELKR	TLDAKGHGVL	EMPSGTGKTV
SLLALIMAYQ	RAYPLEVTKL	IYCSRTVPEI	EKVIEELRKL	LNFYEKQEGE
KLPFLGLALS	SRKNLCIHPE	VTPLRFGKDV	DGKCHSLTAS	YVRAQYQHDT
SLPHCRFYEE	FDAHGREVPL	PAGIYNLDDL	KALGRRQGWC	PYFLARYSIL
HANVVVYSYH	YLLDPKIADL	VSKELARKAV	VVFDEAHNID	NVCIDSMSVN
LTRRTLDRCQ	GNLETLQKTV	LRIKETDEQR	LRDEYRRLVE	GLREASAARE
TDAHLANPVL	PDEVLQEAVP	GSIRTAEHFL	GFLRRLLEYV	KWRLRVQHVV
QESPPAFLSG	LAQRVCIQRK	PLRFCAERLR	SLLHTLEITD	LADFSPLTLL
ANFATLVSTY	AKGFTIIIEP	FDDRTPTIAN	PILHFSCMDA	SLAIKPVFER
FQSVIITSGT	LSPLDIYPKI	LDFHPVTMAT	FTMTLARVCL	CPMIIGRGND
QVAISSKFET	REDIAVIRNY	GNLLLEMSAV	VPDGIVAFFT	SYQYMESTVA
SWYEQGILEN	IQRNKLLFIE	TQDGAETSVA	LEKYQEACEN	GRGAILLSVA
RGKVSEGIDF	VHHYGRAVIM	FGVPYVYTQS	RILKARLEYL	RDQFQIREND
FLTFDAMRHA	AQCVGRAIRG	KTDYGLMVFA	DKRFARGDKR	GKLPRWIQEH
LTDANLNLTV	DEGVQVAKYF	LRQMAQPFHR	EDQLGLSLLS	LEQLESEETL
KRIEQIAQQL

Posljedice mutacija u ERCC2

Protein ERCC2/XPD učestvuje u popravku ekscizije nukleotida i koristi se u odmotavanju dvostruke spirale DNK ,nakon što je oštećenje prvobitno identifikovano. Popravak ekscizijom nukleotida je put u više koraka koji uklanja širok raspon različitih oštećenja koja narušavaju normalno uparivanje baza. Takva oštećenja uključuju glomazne hemijske adukte, pirimidinske dimere izazvane ultraljubičastim zracima i nekoliko oblika oksidativnog oštećenja. Mutacije u genu ERCC2/XPD mogu dovesti do različitih sindroma, bilo xeroderma pigmentosum (XP), trihotiodistrofija (TTD) ili kombinacije XP i TTD (XPTTD), ili kombinacije XP i Cockayneov sindrom (XPCS).^[8] I TTD i CS pokazuju karakteristike preranog starenja. Ove karakteristike mogu uključivati senzorinervnu gluhoću, degeneraciju mrežnjača, hipometilaciju bijele tvari, kalcifikaciju centralnog nervnog sistema, smanjeni rast i kaheksiju (gubitak potkožnog masnog tkiva).^[8]^[9] XPCS i TTD fibroblasti iz ERCC2/XPD mutantnih ljudi i miša pokazuju dokaze neispravnog popravljanja oksidativnih oštećenja DNK koja mogu biti u osnovi simptoma segmentnog progeroida (preuranjenog starenja) ^[10]

ERCC2 i popravak ekscizije nukleotida

Protein pod nazivom XPD eksprimiran je prema uputama ERCC2 gena. XPD protein je neizostavan deo kompleksa općeg transkripcijskg faktora IIH (TFIIH), koji je grupa proteina. Dvije vitalne funkcije TFIIH kompleksa su transkripcija gena i popravak oštećene DNK. Uz pomoć transkripcije gena, TFIIH kompleks može kontrolirati funkcioniranje mnogih različitih gena u tijelu, a XPD protein djeluje kao stabilizator. XPB je još jedan protein u kompleksu općeg faktora transkripcije IIH (TFIIH) i napravljen je od gena ERCC3, koji djeluje u koordinaciji sa XDP proteinom, kako bi započeo proces transkripcije gena.

Ultraljubičasti zraci koji izlaze iz Sunca, razne opasne hemikalije, štetna zračenja, poznati su parametri za sabotažu DNK. Normalna i zdrava ćelija imaju sposobnost da popravi oštećenja DNK prije nego što počnu problemi zbog oštećene DNK. Ćelije koriste popravku ekscizijom nukleotida da poprave oštećenu DNK. Kao dio procesa, dvolančana DNK koja okružuje oštećenje je odvojena kompleksom TFIIH. Protein XPD djeluje kao helikaza i pomaže u procesu popravka ekscizijom nukleotida, vezivanjem za specifične regije DNK i odmotavanjem dva spiralna lanca DNK. Ovo otkriva oštećeni protein koji omogućava drugim proteinima da uklone oštećeni dio i zamjene oštećeno područje ispravnom DNK.^[11]

ERCC2 i xeroderma pigmentosum

Xeroderma pigmentosum (XP) povezana je s nedostatkom mehanizma popravka DNK i visokom osjetljivošću na rak. Lagana insuficijencija u mehanizmu popravka DNK može dovesti do razvoja raka. Neki karcinomi su prepoznati uz pomoć odnosa između jednonukleotidnog polimorfizma i gena. XPD protein koga proizvodi gen ERCC2 ima važnu ulogu u procesu transkripcije i ćelijske smrti, a poznat je i po putu popravke ekscizije nukleotida. Različite studije iz literature su pregledale korelaciju između polimorfizama u ERCC2 i smanjene efikasnosti popravka DNK i njihovog uticaja na razvoj karcinoma, kao i interakciju sa izloženošću okoline.

Drugi najčešći uzrok pigmentne kseroderme u Sjedinjenim Državama su mutacije gena ERCC2, od kojih je više od dvadeset pet uočeno kod ljudi s ovom bolešću. Xeroderma pigmentosum nastaje kada gen ERCC2 sprječava kompleks TFIIH da konstruktivno popravi oštećenu DNK.

Posljedično, sva deformiranost se skuplja unutar DNK, sabotira mehanizam popravka i rezultira kancerogenim ili mrtvim ćelijama. Stoga su ljudi koji pate od pigmentne kseroderme vrlo osjetljivi na ultraljubičaste zrake sunčeve svjetlosti zbog problema s popravkom DNK.

Dakle, kada UV-zrake oštete gene, ćelija raste i dijeli se na nekontroliran način i vrlo je sklona da bude kancerogena. Xeroderma pigmentosum ima visok rizik od razvoja karcinoma kože i očiju jer su to područja koja su najviše izložena suncu. Xeroderma pigmentosum uzrokovana mutacijama ERCC2 povezana je s brojnim razvojnim neurološkim poremećajima koji uključuju gubitak sluha, lošu koordinaciju, problee s pokretljivošću, nedostatak intelektualnih sposobnosti, teškoće u govoru, hodanju, gutanju hrane i napade.

Istraživanja sumnjaju da su ove neurološke abnormalnosti posljedica nakupljanja oštećenja DNK, uprkos tome što mozak nije bio izložen ultraljubičastim zracima. I drugi faktori mogu uzrokovati oštećenje DNK u nervnim ćelijama.^[12]

Interakcije

Pokazalo se da je ERCC2 u interakciji sa:

ERCC5,^[13]
GTF2H1,^[14]^[15]
GTF2H2,^[16]^[17] i
XPB.^[13]^[14]^[18]^[19]

Interaktivna mapa puta

Šablon:FluoropyrimidineActivity WP1601

Također pogledajte

Unakrsna popravka ekscizije

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000104884 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030400 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)".
^ ^a ^b Lee TI, Young RA (2000). "Transcription of eukaryotic protein-coding genes". Annual Review of Genetics. 34: 77–137. doi:10.1146/annurev.genet.34.1.77. PMID 11092823.
^ Liu, Jing. "XPD localizes in mitochondria and protects the mitochondrial genome from oxidative DNA damage". Nucleic Acids Research. 43 (11).
^ ^a ^b Andressoo JO, Hoeijmakers JH, Mitchell JR (2006). "Nucleotide excision repair disorders and the balance between cancer and aging". Cell Cycle. 5 (24): 2886–8. doi:10.4161/cc.5.24.3565. PMID 17172862.
^ Fuss JO, Tainer JA (2011). "XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase". DNA Repair (Amst.). 10 (7): 697–713. doi:10.1016/j.dnarep.2011.04.028. PMC 3234290. PMID 21571596.
^ Andressoo JO, Mitchell JR, de Wit J, Hoogstraten D, Volker M, Toussaint W, Speksnijder E, Beems RB, van Steeg H, Jans J, de Zeeuw CI, Jaspers NG, Raams A, Lehmann AR, Vermeulen W, Hoeijmakers JH, van der Horst GT (2006). "An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria". Cancer Cell. 10 (2): 121–32. doi:10.1016/j.ccr.2006.05.027. PMID 16904611.
^ Reference, Genetics Home. "ERCC2 gene". Genetics Home Reference (jezik: engleski). Pristupljeno 16. 4. 2020.
^ Benhamou, Simone; Sarasin, Alain (1. 11. 2002). "ERCC2/XPD gene polymorphisms and cancer risk". Mutagenesis (jezik: engleski). 17 (6): 463–469. doi:10.1093/mutage/17.6.463. ISSN 0267-8357. PMID 12435843.
^ ^a ^b Iyer N, Reagan MS, Wu KJ, Canagarajah B, Friedberg EC (Feb 1996). "Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein". Biochemistry. 35 (7): 2157–67. doi:10.1021/bi9524124. PMID 8652557.
^ ^a ^b Drapkin R, Reardon JT, Ansari A, Huang JC, Zawel L, Ahn K, Sancar A, Reinberg D (Apr 1994). "Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II". Nature. 368 (6473): 769–72. Bibcode:1994Natur.368..769D. doi:10.1038/368769a0. PMID 8152490. S2CID 4363484.
^ Rossignol M, Kolb-Cheynel I, Egly JM (Apr 1997). "Substrate specificity of the cdk-activating kinase (CAK) is altered upon association with TFIIH". The EMBO Journal. 16 (7): 1628–37. doi:10.1093/emboj/16.7.1628. PMC 1169767. PMID 9130708.
^ Coin F, Marinoni JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM (Oct 1998). "Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH". Nature Genetics. 20 (2): 184–8. doi:10.1038/2491. PMID 9771713. S2CID 28250605.
^ Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM (Nov 2000). "Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder". Nature Genetics. 26 (3): 307–13. doi:10.1038/81603. PMID 11062469. S2CID 25233797.
^ Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W (Jul 2004). "A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nature Genetics. 36 (7): 714–9. doi:10.1038/ng1387. PMID 15220921.
^ Marinoni JC, Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G, Seroz T, Gomez DM, Hoeijmakers JH, Egly JM (Mar 1997). "Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH". The EMBO Journal. 16 (5): 1093–102. doi:10.1093/emboj/16.5.1093. PMC 1169708. PMID 9118947.

Dopunska literatura

Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, Stefanini M, King MD, Weber CA, Cole J (Jan 1995). "Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome". American Journal of Human Genetics. 56 (1): 167–74. PMC 1801309. PMID 7825573.
Jeang KT (1998). "Tat, Tat-associated kinase, and transcription". Journal of Biomedical Science. 5 (1): 24–7. doi:10.1007/BF02253352. PMID 9570510.
Yankulov K, Bentley D (Jun 1998). "Transcriptional control: Tat cofactors and transcriptional elongation". Current Biology. 8 (13): R447-9. doi:10.1016/S0960-9822(98)70289-1. PMID 9651670. S2CID 15480646.
Cleaver JE, Thompson LH, Richardson AS, States JC (1999). "A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy". Human Mutation. 14 (1): 9–22. doi:10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6. PMID 10447254. S2CID 24148589.
Lehmann AR (Jan 2001). "The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases". Genes & Development. 15 (1): 15–23. doi:10.1101/gad.859501. PMID 11156600.
Benhamou S, Sarasin A (Nov 2002). "ERCC2/XPD gene polymorphisms and cancer risk". Mutagenesis. 17 (6): 463–9. doi:10.1093/mutage/17.6.463. PMID 12435843.
Clarkson SG, Wood RD (Sep 2005). "Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal". DNA Repair. 4 (10): 1068–74. doi:10.1016/j.dnarep.2005.07.001. PMID 16054878.

Vanjski linkovi

GeneReviews/NIH/NCBI/UW entry on Xeroderma Pigmentosum
ERCC2 Protein na US National Library of Medicine Medical Subject Headings (MeSH)

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000104884 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030400 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] "Entrez Gene: ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)".

[pmid11092823-6] Lee TI, Young RA (2000). "Transcription of eukaryotic protein-coding genes". Annual Review of Genetics. 34: 77–137. doi:10.1146/annurev.genet.34.1.77. PMID 11092823.

[7] Liu, Jing. "XPD localizes in mitochondria and protects the mitochondrial genome from oxidative DNA damage". Nucleic Acids Research. 43 (11).

[Andressoo-8] Andressoo JO, Hoeijmakers JH, Mitchell JR (2006). "Nucleotide excision repair disorders and the balance between cancer and aging". Cell Cycle. 5 (24): 2886–8. doi:10.4161/cc.5.24.3565. PMID 17172862.

[pmid21571596-9] Fuss JO, Tainer JA (2011). "XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase". DNA Repair (Amst.). 10 (7): 697–713. doi:10.1016/j.dnarep.2011.04.028. PMC 3234290. PMID 21571596.

[pmid16904611-10] Andressoo JO, Mitchell JR, de Wit J, Hoogstraten D, Volker M, Toussaint W, Speksnijder E, Beems RB, van Steeg H, Jans J, de Zeeuw CI, Jaspers NG, Raams A, Lehmann AR, Vermeulen W, Hoeijmakers JH, van der Horst GT (2006). "An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria". Cancer Cell. 10 (2): 121–32. doi:10.1016/j.ccr.2006.05.027. PMID 16904611.

[11] Reference, Genetics Home. "ERCC2 gene". Genetics Home Reference (jezik: engleski). Pristupljeno 16. 4. 2020.

[12] Benhamou, Simone; Sarasin, Alain (1. 11. 2002). "ERCC2/XPD gene polymorphisms and cancer risk". Mutagenesis (jezik: engleski). 17 (6): 463–469. doi:10.1093/mutage/17.6.463. ISSN 0267-8357. PMID 12435843.

[pmid8652557-13] Iyer N, Reagan MS, Wu KJ, Canagarajah B, Friedberg EC (Feb 1996). "Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein". Biochemistry. 35 (7): 2157–67. doi:10.1021/bi9524124. PMID 8652557.

[pmid8152490-14] Drapkin R, Reardon JT, Ansari A, Huang JC, Zawel L, Ahn K, Sancar A, Reinberg D (Apr 1994). "Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II". Nature. 368 (6473): 769–72. Bibcode:1994Natur.368..769D. doi:10.1038/368769a0. PMID 8152490. S2CID 4363484.

[pmid9130708-15] Rossignol M, Kolb-Cheynel I, Egly JM (Apr 1997). "Substrate specificity of the cdk-activating kinase (CAK) is altered upon association with TFIIH". The EMBO Journal. 16 (7): 1628–37. doi:10.1093/emboj/16.7.1628. PMC 1169767. PMID 9130708.

[pmid9771713-16] Coin F, Marinoni JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM (Oct 1998). "Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH". Nature Genetics. 20 (2): 184–8. doi:10.1038/2491. PMID 9771713. S2CID 28250605.

[pmid11062469-17] Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM (Nov 2000). "Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder". Nature Genetics. 26 (3): 307–13. doi:10.1038/81603. PMID 11062469. S2CID 25233797.

[pmid15220921-18] Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W (Jul 2004). "A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nature Genetics. 36 (7): 714–9. doi:10.1038/ng1387. PMID 15220921.

[pmid9118947-19] Marinoni JC, Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G, Seroz T, Gomez DM, Hoeijmakers JH, Egly JM (Mar 1997). "Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH". The EMBO Journal. 16 (5): 1093–102. doi:10.1093/emboj/16.5.1093. PMC 1169708. PMID 9118947.

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