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Vessoni AT, Guerra CCC, Kajitani GS, et al. Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease. Genet Mol Biol. 2020;43(1):e20190085doi: 10.1590/1678-4685-GMB-2019-0085.
Vessoni, A. T., Guerra, C. C. C., Kajitani, G. S., Nascimento, L. L. S., & Garcia, C. C. M. (2020). Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease. Genetics and molecular biology, 43(1), e20190085. https://doi.org/10.1590/1678-4685-GMB-2019-0085
Vessoni, Alexandre Teixeira, et al. "Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease." Genetics and molecular biology vol. 43,1 (2020): e20190085. doi: https://doi.org/10.1590/1678-4685-GMB-2019-0085
Vessoni AT, Guerra CCC, Kajitani GS, Nascimento LLS, Garcia CCM. Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease. Genet Mol Biol. 2020 May 20;43(1):e20190085. doi: 10.1590/1678-4685-GMB-2019-0085. eCollection 2020. PMID: 32453336; PMCID: PMC7250278.
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Genet Mol Biol. 2020 May 20;43(1):e20190085. doi: 10.1590/1678-4685-GMB-2019-0085. eCollection 2020.

Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease.

Genetics and molecular biology

Alexandre Teixeira Vessoni, Camila Chaves Coelho Guerra, Gustavo Satoru Kajitani, Livia Luz Souza Nascimento, Camila Carrião Machado Garcia

Affiliations

  1. Washington University School of Medicine, Saint Louis, MO, USA.
  2. Universidade Federal de Ouro Preto, Instituto de Ciências Exatas e Biológicas, Núcleo de Pesquisa em Ciências Biológicas & Departamento de Ciências Biológicas, Ouro Preto, MG, Brazil.
  3. Universidade de São Paulo, Instituto de Ciências Biomédicas, Departamento de Microbiologia, São Paulo,SP, Brazil.

PMID: 32453336 PMCID: PMC7250278 DOI: 10.1590/1678-4685-GMB-2019-0085

Abstract

The striking and complex phenotype of Cockayne syndrome (CS) patients combines progeria-like features with developmental deficits. Since the establishment of the in vitro culture of skin fibroblasts derived from patients with CS in the 1970s, significant progress has been made in the understanding of the genetic alterations associated with the disease and their impact on molecular, cellular, and organismal functions. In this review, we provide a historic perspective on the research into CS by revisiting seminal papers in this field. We highlighted the great contributions of several researchers in the last decades, ranging from the cloning and characterization of CS genes to the molecular dissection of their roles in DNA repair, transcription, redox processes and metabolism control. We also provide a detailed description of all pathological mutations in genes ERCC6 and ERCC8 reported to date and their impact on CS-related proteins. Finally, we review the contributions (and limitations) of many genetic animal models to the study of CS and how cutting-edge technologies, such as cell reprogramming and state-of-the-art genome editing, are helping us to address unanswered questions.

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