Complementation studies in cells from patients affected by trichothiodystrophy with normal or enhanced UV photosensitivity

Stefanini, Miria; Lagomarsini, P.; Giorgi, R.; Nuzzo, Fiorella

doi:10.1016/0165-7992(87)90139-4

Cited by 24 publications

(6 citation statements)

References 4 publications

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“…The clinical phenotypes of TTD include brittle hair and nails with reduced sulfur content, ichthyosis, peculiar facial features, and mental and physical retardation. TTD can therefore be regarded as a segmental progeroid syndrome ( [36][37][38]. Cell fusion studies have identified three TTD complementation groups to date: XPB, XPD, and TTDA.…”

Section: Trichothiodystrophymentioning

confidence: 99%

Helicases and aging

Nakura

Morishima

et al. 2000

Cellular and Molecular Life Sciences (CMLS)

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Studying monogenic hereditary disorders syndrome. A decline of probably pleiotropic and funthat manifest age-related phenotypes in cells, tissues, damental function of helicases in these disorders is, and the total organism would be helpful for clarifying therefore, implied to underlie not only the various agerelated phenotypes of the disorders but also the the mechanisms of aging. In this context, seven human disorders that manifest age-related phenotypes have pleiotropic and universal nature of ordinary aging.Consistent with this implication, studies of these seven been found to be caused by aberrations of five proteins disorders suggest that their various age-related phenowith seven helicase motifs conserved in most of the helicases. These disorders are xeroderma pigmentosum, types are caused by aberrations in multiple processes, Cockayne syndrome, trichothiodystrophy, Bloom syn-especially transcription. Furthermore, a few studies imply some association between aberration of the helidrome, Werner syndrome, X-linked h-thalassemia/mental retardation syndrome, and Juberg-Marsidi cases and phenotypes in ordinary aging.

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Section: Trichothiodystrophymentioning

confidence: 99%

Helicases and aging

Nakura

Morishima

et al. 2000

Cellular and Molecular Life Sciences (CMLS)

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“…Cells from these patients have a normal capacity to perform UV-induced DNA repair synthesis and, in cell fusion experiments, they are able to fully rescue the DNA repair defect in photosensitive TTD cells [Fois et al, 1988;Lehmann et al, 1988;Stefanini et al, 1987Stefanini et al, , 1992. Recently, an uncharacterized open reading frame (ORF), C7orf11 (MIM] 609188), was identified as the first disease gene for nonphotosensitive TTD [Nakabayashi et al, 2005].…”

Section: Introductionmentioning

confidence: 99%

Mutations in theC7orf11(TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships

et al. 2007

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Trichothiodystrophy (TTD) is a rare autosomal recessive disorder whose defining feature is brittle hair. Associated clinical symptoms include physical and mental retardation of different severity, ichthyosis, premature aging, and, in half of the patients, photosensitivity. Recently, C7orf11 (TTDN1) was identified as the first disease gene for the nonphotosensitive form of TTD, being mutated in two unrelated cases and in an Amish kindred. We have evaluated the involvement of TTDN1 in 44 unrelated nonphotosensitive TTD cases of different geographic origin and with different disease severity. Mutations were found in six patients, five of whom are homozygous and one of whom is a compound heterozygote. All five identified mutations are deletions that have not been described before. Three are deletions of a few bases, resulting in frameshifts and premature termination codons. The other two include the whole TTDN1 gene, suggesting that TTDN1 is not essential for cell proliferation and viability. The severity of the clinical features does not correlate with the type of mutation, indicating that other factors besides TTDN1 mutations influence the severity of the disorder. Since only a small proportion of the analyzed cases were mutated in TTDN1, the nonphotosensitive form of TTD is genetically heterogeneous. Mutations in TTDN1 do not affect the response to ultraviolet (UV) light or the steady state level of the repair/transcription factor IIH (TFIIH), which is central to the onset of the photosensitive form of TTD.

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“…In patients affected by TTD, photosensitivity may be present or absent and the molecular excision repair defect appears to be similar to XP group D (XPD) 29 . Patients without photosensitivity showed an excision repair of cultivated cells, ranging from normal to severely altered 30 . Lehmann et al .…”

Section: Early Diagnosismentioning

confidence: 99%

“…29 Patients without photosensitivity showed an excision repair of cultivated cells, ranging from normal to severely altered. 30 Lehmann et al . revealed patients with a normal response, with a response similar to XPD and with a 50% excision repair defect.…”

Section: Early Diagnosismentioning

confidence: 99%