Tissue-dependent regulation of RNAP II dynamics

Goula, Agathi-Vasiliki; Festenstein, Richard; Mérienne, Karine

doi:10.4161/trns.25971

Cited by 4 publications

(3 citation statements)

References 30 publications

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“…In HD patients and an HD mouse model, expansion is more extensive in the striatum than the cerebellum despite the similar levels of HTT transcription (Dure et al ., 1994; Goula et al ., 2012b). In the case of the HD mouse, it has been suggested that tissue-dependent regulation of promoter proximal pausing at the HTT gene might underlie tissue-selective instability (Goula et al ., 2013). A recent study in yeast suggests another model for the effect of transcription.…”

Section: Repeat Expansions Cause Human Diseasementioning

confidence: 99%

Repeat instability during DNA repair: Insights from model systems

Usdin

House

Freudenreich

2015

Critical Reviews in Biochemistry and Molecular Biology

167

218

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The expansion of repeated sequences is the cause of over 30 inherited genetic diseases, including Huntington disease, myotonic dystrophy (types 1 and 2), fragile X syndrome, many spinocerebellar ataxias, and some cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Repeat expansions are dynamic, and disease inheritance and progression are influenced by the size and the rate of expansion. Thus, an understanding of the various cellular mechanisms that cooperate to control or promote repeat expansions is of interest to human health. In addition, the study of repeat expansion and contraction mechanisms has provided insight into how repair pathways operate in the context of structure-forming DNA, as well as insights into non-canonical roles for repair proteins. Here we review the mechanisms of repeat instability, with a special emphasis on the knowledge gained from the various model systems that have been developed to study this topic. We cover the repair pathways and proteins that operate to maintain genome stability, or in some cases cause instability, and the cross-talk and interactions between them.

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Section: Repeat Expansions Cause Human Diseasementioning

confidence: 99%

Repeat instability during DNA repair: Insights from model systems

Usdin

House

Freudenreich

2015

Critical Reviews in Biochemistry and Molecular Biology

167

218

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“…It could be that expansion requires an open chromatin configuration rather than transcription per se or that transcription is not rate limiting for expansion. It has also been suggested that the expansion frequency is related to the rate of transcription elongation rather than to the absolute levels of transcription [53]. This idea is based on a comparison of the repeat instability in the striatum and cerebellum of HD mouse models.…”

Section: Expansion Is Facilitated By Transcription or By Transcripmentioning

confidence: 99%

“…This idea is based on a comparison of the repeat instability in the striatum and cerebellum of HD mouse models. While these two tissues show similar steady state levels of transcription, transcription elongation rates are higher in the striatum, which also shows higher levels of expansion [53]. However, the difference in the expansion rates of these tissues has also been correlated with differences in the levels of expression of some of the proteins involved in the expansion process [54, 55].…”

Section: Expansion Is Facilitated By Transcription or By Transcripmentioning

confidence: 99%

The Repeat Expansion Diseases: The dark side of DNA repair

Zhao

Usdin

2015

DNA Repair

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DNA repair normally protects the genome against mutations that threaten genome integrity and thus cell viability. However, growing evidence suggests that in the case of the Repeat Expansion Diseases, disorders that result from an increase in the size of a disease-specific microsatellite, the disease-causing mutation is actually the result of aberrant DNA repair. A variety of proteins from different DNA repair pathways have thus far been implicated in this process. This review will summarize recent findings from patients and from mouse models of these diseases that shed light on how these pathways may interact to cause repeat expansion.

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Tissue specificity in DNA repair: lessons from trinucleotide repeat instability

Dion¹

2014

Trends in Genetics

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Tissue-dependent regulation of RNAP II dynamics

Cited by 4 publications

References 30 publications

Repeat instability during DNA repair: Insights from model systems

Repeat instability during DNA repair: Insights from model systems

The Repeat Expansion Diseases: The dark side of DNA repair

Tissue specificity in DNA repair: lessons from trinucleotide repeat instability

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