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RECQL4, the Protein Mutated in Rothmund-Thomson Syndrome, Functions in Telomere Maintenance

Avik K. Ghosh, Marie L. Rossi, Dharmendra Kumar Singh, Christopher Dunn, Mahesh Ramamoorthy, Deborah L. Croteau, Yie Liu, Vilhelm A. Bohr

Journal of Biological Chemistry · 2011 · ▲ 124 citations

Telomere attrition Human

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Abstract

Background: RECQL4 is a RecQ helicase mutated in Rothmund-Thomson Syndrome (RTS) and has a functional role in DNA replication and repair. Results: RECQL4-depleted and RTS patient cells show telomere abnormalities and that RECQL4 interacts with telomeric DNA and related proteins. Conclusion: RECQL4 is involved in telomere maintenance. Significance: The RecQ helicase RECQL4 is involved in telomere replication and maintenance. This establishes a connection between telomere function and a disease with premature aging phenotype.

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Provenance

Source: OpenAlex
DOI: 10.1074/jbc.m111.295063
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Fetched: 2026-06-12 MST

Cite this

APA

Ghosh, A.K., Rossi, M.L., Singh, D.K., Dunn, C., Ramamoorthy, M., Croteau, D.L., Liu, Y., & Bohr, V.A. (2011). RECQL4, the Protein Mutated in Rothmund-Thomson Syndrome, Functions in Telomere Maintenance. <em>Journal of Biological Chemistry</em>. https://doi.org/10.1074/jbc.m111.295063

Vancouver

Ghosh AK, Rossi ML, Singh DK, Dunn C, Ramamoorthy M, Croteau DL, et al. RECQL4, the Protein Mutated in Rothmund-Thomson Syndrome, Functions in Telomere Maintenance. Journal of Biological Chemistry. 2011. doi:10.1074/jbc.m111.295063.

BibTeX

@article{avik2011RECQLt, title = {RECQL4, the Protein Mutated in Rothmund-Thomson Syndrome, Functions in Telomere Maintenance}, author = {Avik K. Ghosh and Marie L. Rossi and Dharmendra Kumar Singh and Christopher Dunn and Mahesh Ramamoorthy and Deborah L. Croteau and Yie Liu and Vilhelm A. Bohr}, journal = {Journal of Biological Chemistry}, year = {2011}, doi = {10.1074/jbc.m111.295063}, }