Trichothiodystrophy: Update on the sulfur-deficient brittle hair syndromes

Nucleotide Excision Repair Disorders and the Balance Between Cancer and Aging

“…CS and TTD share overlapping progeroid features including cachectic dwarfism, sensorineural deafness, retinal degeneration, white matter hypomyelination and CNS calcification, whereas whereas in addition TTD displays hallmark brittle hair and cutaneous features. [10][11][12] Recently we found that both human and mouse CS and TTD cells (and also cells from the rare combined disorder, XPCS) share a common defect in repair of oxidative lesions which might explain the overlapping progeroid features of these syndromes. 13 The idea that progeria in CS, TTD and XPCS is linked to accumulated endogenous DNA damage is further supported by genetic evidence: CS, TTD and XPCS mice additionally lacking a functional Xpa gene, which further reduces NER capacity, share common dramatic phenotypes including rapid postnatal onset of progeroid features and death around weaning.…”

Transcriptional profiles of unirradiated or UV-irradiated human cells expressing either the cancer-prone XPB/CS allele or the noncancer-prone XPB/TTD allele

“…Some XP patients display a combination of the cutaneous abnormalities with the severe neurological and developmental anomalies typical of Cockayne's syndrome (CS), such as neurodysmyelination, pigmented retinopathy, dwarfism and immature sexual development (Lehmann, 2003). Trichothiodystrophy (TTD) syndrome includes patients that have brittle hair and may present physical and mental retardation (Itin et al, 2001). Approximately 50% of TTD patients are sunsensitive and manifest ichtyosis at birth, but, as observed for CS patients, none of them are cancer prone, in contrast to XP or XP/CS patients.…”

Comprehensive Assessment of Associations between ERCC2 Lys751Gln/Asp312Asn Polymorphisms and Risk of Non-Hodgkin Lymphoma

“…Excision repair crossing-complementing group 2 (ERCC2), also known as xeroderma pigmentosum complementary group D (XPD), functions in DNA unwinding during NER and basal transcription because it possesses single-strand DNAdependent ATPase and 5'-3' DNA helicase activities (Sung et al, 1993;de Boer and Hoeijmakers, 2000). ERCC2 gene which located at chromosome 19q13.3 comprises 23 exons and spans about 54, 000 base pairs (Weber et al, 1990;Itin et al, 2001). Single nucleotide polymorphisms (SNPs) of this gene are thought to engender structural alterations of NER pathway and influence cancer susceptibility.…”