Pigmentation abnormalities in nucleotide excision repair disorders: Evidence and hypotheses.
Journal
Pigment cell & melanoma research
ISSN: 1755-148X
Titre abrégé: Pigment Cell Melanoma Res
Pays: England
ID NLM: 101318927
Informations de publication
Date de publication:
01 2019
01 2019
Historique:
received:
02
03
2018
revised:
11
05
2018
accepted:
11
06
2018
pubmed:
26
6
2018
medline:
16
4
2019
entrez:
26
6
2018
Statut:
ppublish
Résumé
Skin pigmentation abnormalities are manifested in several disorders associated with deficient DNA repair mechanisms such as nucleotide excision repair (NER) and double-strand break (DSB) diseases, a topic that has not received much attention up to now. Hereditary disorders associated with defective DNA repair are valuable models for understanding mechanisms that lead to hypo- and hyperpigmentation. Owing to the UV-associated nature of abnormal pigmentary manifestations, the outcome of the activated DNA damage response (DDR) network could be the effector signal for alterations in pigmentation, ultimately manifesting as pigmentary abnormalities in repair-deficient disorders. In this review, the role of the DDR network in the manifestation of pigmentary abnormalities in NER and DSB disorders is discussed with a special emphasis on NER disorders.
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
25-40Subventions
Organisme : Association Nationale de la Recherche et de la Technologie
ID : 1105/2014
Pays : International
Informations de copyright
© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.