Mechanisms of interstrand DNA crosslink repair and human disorders

Genes and Environment

Table 1 Molecular function of ICL repair factors linked to human disorders

Gene (also known as)	Biochemical functions	Disorders	References
FANCA	FA core complex	FA	[57]
FANCB	FA core complex	FA	[58]
FANCC	FA core complex	FA	[59]
FANCD1 (BRCA2)	HR	FA, HBOC	[60]
FANCD2	FAN1 recruitment	FA	[61]
FANCE	FA core complex	FA	[62, 63]
FANCF	FA core complex	FA	[64]
FANCG	FA core complex	FA	[65]
FANCI	FAN1 recruitment	FA	[66, 67]
FANCJ (BRIP1)	HR, Chromatin remodeling factor	FA, HBOC	[68, 69]
FANCL	Ubiquitin ligase	FA	[70]
FANCN (PALB2)	HR	FA, HBOC	[71, 72]
FANCO (RAD51C)	HR	FA, HBOC	[73, 74]
FANCP (SLX4)	Structure-specific endonuclease	FA	[75]
FANCQ (XPF)	NER, Structure-specific endonuclease	FA, XP, CS, COFS	[76–78]
FANCS (BRCA1)	HR, Chromatin remodeling factor	FA, HBOC	[79]
FANCT (UBE2T)	E2 ubiquitin conjugating enzyme	FA	[80]
ERCC1	NER, Structure-specific endonuclease	COFS	[81]
XPA	NER	XP	[82]
XPB	NER, Helicase in TFIIH	XP, CS, TTD	[83–85]
XPC	NER	XP	[86]
XPD	NER, Helicase in TFIIH	XP, CS, TTD, COFS	[87–89]
XPE	NER	XP	[90]
XPG	NER	XP, CS	[91, 92]
CSA	NER	CS	[93]
CSB	NER	CS, COFS	[94]
TTDA (p8)	NER, a component of TFIIH	TTD	[95]

HR factor in homologous recombination, NER factor in nucleotide excision repair
HBOC Hereditary breast and/or ovary cancer syndrome
FA Fanconi anemia, COFS Cerebro-oculo-facio-skeletal syndrome
XP Xeroderma pigmentosum, CS Cockayne syndrome, TTD Trichothiodystropy

ISSN: 1880-7062