Pigmentation abnormalities in nucleotide excision repair disorders: Evidence and hypotheses.

Abstract

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.

• Authors: Zeinab Kasraian, Sandra Trompezinski, Muriel Cario-André, Fanny Morice-Picard, Cécile Ged, Marie-Laure Jullie, Alain Taieb, Hamid Reza Rezvani
• Journal: Pigment cell & melanoma research (Pigment Cell Melanoma Res) Vol. 32 Issue 1 Pg. 25-40 (01 2019) ISSN: 1755-148X [Electronic] England
• PMID: 29938913 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Topics

• Animals
• DNA Damage
• DNA Repair
• Humans
• Models, Biological
• Phenotype
• Pigmentation Disorders (pathology, physiopathology)