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Drosophila as a Model Organism to Understand the Effects during Development of TFIIH-Related Human Diseases

Human mutations in the transcription and nucleotide excision repair (NER) factor TFIIH are linked with three human syndromes: xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS). In particular, different mutations in the XPB, XPD and p8 subunits of TFIIH may cause one or...

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Autores principales: Zurita, Mario, Murillo-Maldonado, Juan Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013941/
https://www.ncbi.nlm.nih.gov/pubmed/31963603
http://dx.doi.org/10.3390/ijms21020630
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author Zurita, Mario
Murillo-Maldonado, Juan Manuel
author_facet Zurita, Mario
Murillo-Maldonado, Juan Manuel
author_sort Zurita, Mario
collection PubMed
description Human mutations in the transcription and nucleotide excision repair (NER) factor TFIIH are linked with three human syndromes: xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS). In particular, different mutations in the XPB, XPD and p8 subunits of TFIIH may cause one or a combination of these syndromes, and some of these mutations are also related to cancer. The participation of TFIIH in NER and transcription makes it difficult to interpret the different manifestations observed in patients, particularly since some of these phenotypes may be related to problems during development. TFIIH is present in all eukaryotic cells, and its functions in transcription and DNA repair are conserved. Therefore, Drosophila has been a useful model organism for the interpretation of different phenotypes during development as well as the understanding of the dynamics of this complex. Interestingly, phenotypes similar to those observed in humans caused by mutations in the TFIIH subunits are present in mutant flies, allowing the study of TFIIH in different developmental processes. Furthermore, studies performed in Drosophila of mutations in different subunits of TFIIH that have not been linked to any human diseases, probably because they are more deleterious, have revealed its roles in differentiation and cell death. In this review, different achievements made through studies in the fly to understand the functions of TFIIH during development and its relationship with human diseases are analysed and discussed.
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spelling pubmed-70139412020-03-09 Drosophila as a Model Organism to Understand the Effects during Development of TFIIH-Related Human Diseases Zurita, Mario Murillo-Maldonado, Juan Manuel Int J Mol Sci Review Human mutations in the transcription and nucleotide excision repair (NER) factor TFIIH are linked with three human syndromes: xeroderma pigmentosum (XP), trichothiodystrophy (TTD) and Cockayne syndrome (CS). In particular, different mutations in the XPB, XPD and p8 subunits of TFIIH may cause one or a combination of these syndromes, and some of these mutations are also related to cancer. The participation of TFIIH in NER and transcription makes it difficult to interpret the different manifestations observed in patients, particularly since some of these phenotypes may be related to problems during development. TFIIH is present in all eukaryotic cells, and its functions in transcription and DNA repair are conserved. Therefore, Drosophila has been a useful model organism for the interpretation of different phenotypes during development as well as the understanding of the dynamics of this complex. Interestingly, phenotypes similar to those observed in humans caused by mutations in the TFIIH subunits are present in mutant flies, allowing the study of TFIIH in different developmental processes. Furthermore, studies performed in Drosophila of mutations in different subunits of TFIIH that have not been linked to any human diseases, probably because they are more deleterious, have revealed its roles in differentiation and cell death. In this review, different achievements made through studies in the fly to understand the functions of TFIIH during development and its relationship with human diseases are analysed and discussed. MDPI 2020-01-17 /pmc/articles/PMC7013941/ /pubmed/31963603 http://dx.doi.org/10.3390/ijms21020630 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Zurita, Mario
Murillo-Maldonado, Juan Manuel
Drosophila as a Model Organism to Understand the Effects during Development of TFIIH-Related Human Diseases
title Drosophila as a Model Organism to Understand the Effects during Development of TFIIH-Related Human Diseases
title_full Drosophila as a Model Organism to Understand the Effects during Development of TFIIH-Related Human Diseases
title_fullStr Drosophila as a Model Organism to Understand the Effects during Development of TFIIH-Related Human Diseases
title_full_unstemmed Drosophila as a Model Organism to Understand the Effects during Development of TFIIH-Related Human Diseases
title_short Drosophila as a Model Organism to Understand the Effects during Development of TFIIH-Related Human Diseases
title_sort drosophila as a model organism to understand the effects during development of tfiih-related human diseases
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013941/
https://www.ncbi.nlm.nih.gov/pubmed/31963603
http://dx.doi.org/10.3390/ijms21020630
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