Search research articles

Search research articles

Related Experiment Video

Updated: Apr 29, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice.

H Lu¹, E F Fang¹, P Sykora¹

¹Laboratory of Molecular Gerontology, Biomedical Research Center, National Institute on Aging, National Institutes of Health, Baltimore, MD 21224, USA.

Cell Death & Disease

|May 17, 2014

Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

The cGAS-STING signaling pathway is modulated by urolithin A.

Mechanisms of ageing and development·2023

Same author

DNA Polymerase Beta Participates in Mitochondrial DNA Repair.

Molecular and cellular biology·2017

Same author

Defensins and other biocidal proteins from bean seeds with medicinal activities.

Current medicinal chemistry·2011

Same author

Recent progress in medicinal investigations on trichosanthin and other ribosome inactivating proteins from the plant genus Trichosanthes.

Current medicinal chemistry·2011

Same author

Bitter gourd (Momordica charantia) is a cornucopia of health: a review of its credited antidiabetic, anti-HIV, and antitumor properties.

Current molecular medicine·2011

Same author

Biochemical and functional properties of a lectin purified from korean large black soybeans--a cultivar of glycine max.

Protein and peptide letters·2009

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

RECQL4 deficiency causes DNA damage and premature cellular senescence, contributing to Rothmund-Thomson syndrome symptoms. This study investigates RECQL4

Area of Science:

Cellular and Molecular Biology
Genetics and Genomics
Aging Research

Background:

Cellular senescence is a key factor in aging and age-related diseases.
Rothmund-Thomson syndrome (RTS) is linked to RECQL4 deficiency.
The role of RECQL4 in cellular senescence remains unclear.

Purpose of the Study:

To investigate the involvement of RECQL4 in cellular senescence.
To determine the impact of RECQL4 deficiency on DNA damage and cell proliferation.
To explore the cellular mechanisms underlying RTS.

Main Methods:

Depletion of RECQL4 and other RecQ helicases in human fibroblasts.
Assessment of senescence markers (SA-β-gal, p16INK4a, p21WAF1) and DNA damage foci.
Analysis of a Recql4-deficient mouse model (Recql4(HD)) and its tail fibroblasts.

More Related Videos

Mouse Round Spermatid Injection

Mouse Round Spermatid Injection

Published on: January 26, 2024

Dissection of a Mouse Eye for a Whole Mount of the Retinal Pigment Epithelium

Dissection of a Mouse Eye for a Whole Mount of the Retinal Pigment Epithelium

Published on: February 27, 2011

Related Experiment Videos

Last Updated: Apr 29, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Mouse Round Spermatid Injection

Mouse Round Spermatid Injection

Published on: January 26, 2024

Dissection of a Mouse Eye for a Whole Mount of the Retinal Pigment Epithelium

Dissection of a Mouse Eye for a Whole Mount of the Retinal Pigment Epithelium

Published on: February 27, 2011

Main Results:

RECQL4 depletion, along with BLM and WRN, increased senescence markers and DNA damage.
RECQL4's senescence-preventing region identified in its N-terminal and helicase domains.
Recql4(HD) mice exhibited increased senescence in fibroblasts, hair follicles, and bone marrow, with associated hair and blood cell deficiencies.

Conclusions:

RECQL4 dysfunction leads to increased DNA damage and premature senescence in human and mouse cells.
This premature senescence likely contributes to the clinical manifestations of Rothmund-Thomson syndrome.
RECQL4 is crucial for maintaining genomic stability and preventing cellular senescence.