Abstract
Helicases are enzymes that unwind DNA-DNA and RNA-DNA duplexes play important roles in many DNA metabolic activities like replication, transcription, recombination and repair. The molecular link between helicases and genomic stability has become stronger by recent studies indicating that the genes responsible for certain human degenerative disorders such as Werner syndrome (WS), Bloom syndrome (BS) and Rothmund-Thomson syndrome (RTS) encode for helicase domain containing proteins (HDPs) homologous to bacterial RecQ super family of helicases. The patients suffering from these disorders show many signs that are suggestive of accelerated aging at an early adulthood. Some of the features include atrophy of the skin, graying of the hair, cataracts, diabetes and osteoporosis. Additionally, symptoms of accelerated aging and genomic instability have also been noticed in xeroderma pigmentosum (XP) and Cockayne syndrome (complementation group B) patients. The gene products of XP complementation groups B and D are helicases and they play dual roles both in nucleotide excision repair and RNA polymerase II transcription. The CSB protein with a remarkably conserved helicase domain is homologous to yeast SWI/SNF family of proteins that have regulatory roles in transcription, chromosome stability and DNA repair. Although genomic instability is a common feature of helicase disorders, elucidation of precise biological function(s) of helicases is critical for defining the molecular basis for diverse clinical symptoms of these patients. Recent studies have characterized the preferred DNA substrates for RecQ helicases and also identified the interaction of HDPs with a number of proteins involved in DNA replication, transcription, recombination and repair. These interactions have given great insights into functional complexities of helicases. This review deals with our current knowledge on the diverse biological functions of HDPs and their collective role in the maintenance of genomic stability.
Current Genomics
Title: Helicase Domain Containing Proteins in Human Disorders
Volume: 2 Issue: 4
Author(s): Adayabalam S. Balajee and Colette ApRhys
Affiliation:
Abstract: Helicases are enzymes that unwind DNA-DNA and RNA-DNA duplexes play important roles in many DNA metabolic activities like replication, transcription, recombination and repair. The molecular link between helicases and genomic stability has become stronger by recent studies indicating that the genes responsible for certain human degenerative disorders such as Werner syndrome (WS), Bloom syndrome (BS) and Rothmund-Thomson syndrome (RTS) encode for helicase domain containing proteins (HDPs) homologous to bacterial RecQ super family of helicases. The patients suffering from these disorders show many signs that are suggestive of accelerated aging at an early adulthood. Some of the features include atrophy of the skin, graying of the hair, cataracts, diabetes and osteoporosis. Additionally, symptoms of accelerated aging and genomic instability have also been noticed in xeroderma pigmentosum (XP) and Cockayne syndrome (complementation group B) patients. The gene products of XP complementation groups B and D are helicases and they play dual roles both in nucleotide excision repair and RNA polymerase II transcription. The CSB protein with a remarkably conserved helicase domain is homologous to yeast SWI/SNF family of proteins that have regulatory roles in transcription, chromosome stability and DNA repair. Although genomic instability is a common feature of helicase disorders, elucidation of precise biological function(s) of helicases is critical for defining the molecular basis for diverse clinical symptoms of these patients. Recent studies have characterized the preferred DNA substrates for RecQ helicases and also identified the interaction of HDPs with a number of proteins involved in DNA replication, transcription, recombination and repair. These interactions have given great insights into functional complexities of helicases. This review deals with our current knowledge on the diverse biological functions of HDPs and their collective role in the maintenance of genomic stability.
Export Options
About this article
Cite this article as:
Balajee S. Adayabalam and ApRhys Colette, Helicase Domain Containing Proteins in Human Disorders, Current Genomics 2001; 2 (4) . https://dx.doi.org/10.2174/1389202013350742
DOI https://dx.doi.org/10.2174/1389202013350742 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced AI Techniques in Big Genomic Data Analysis
The thematic issue on "Advanced AI Techniques in Big Genomic Data Analysis" aims to explore the cutting-edge methodologies and applications of artificial intelligence (AI) in the realm of genomic research, where vast amounts of data pose both challenges and opportunities. This issue will cover a broad spectrum of AI-driven strategies, ...read more
Advanced Computational Algorithms and Artificial Intelligence in Clinical Pharmacogenomics
In the era of personalized medicine, understanding the relationship between genetics and drug response is crucial. This issue delves into innovative methodologies, leveraging deep computational analysis and artificial intelligence, to enhance the field of Clinical Pharmacogenomics. The interdisciplinary approach harnesses the power of advanced high-throughput genotyping technologies, sophisticated computational analysis, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Big Data in Cancer Research
Cancer is a significant threat to human life and health, remaining a highly aggressive killer. It is a leading cause of death worldwide and represents a crucial medical issue for humanity. However, in the past decade, the effectiveness of new synthetic anticancer agents has not matched the current clinical speculation. ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Dysregulation of Lysyl Oxidases Expression in Diabetic Nephropathy and Renal Cell Carcinoma
Current Drug Targets Non-histone Methylation of SET7/9 and its Biological Functions
Recent Patents on Anti-Cancer Drug Discovery Effects of Surface Morphology Variation on the Degradation Rate of Poly(L-Lactic Acid) Membranes and the Behavior of Attached Cells
Micro and Nanosystems Melatonin, A Natural Programmed Cell Death Inducer in Cancer
Current Medicinal Chemistry Long Noncoding RNA MALAT1: Insights into its Biogenesis and Implications in Human Disease
Current Pharmaceutical Design Cellular Changes, Molecular Pathways and the Immune System Following Photodynamic Treatment
Current Medicinal Chemistry Death Receptor Signaling in Cancer Therapy
Current Medicinal Chemistry - Anti-Cancer Agents Impact of Epigenetic Dietary Components on Cancer through Histone Modifications
Current Medicinal Chemistry Molecular Mechanisms of Pancreatic Cancer Dissemination: The Role of the Chemokine System
Current Pharmaceutical Design Modulation of Cellular Response to Anticancer Treatment by Caffeine: Inhibition of Cell Cycle Checkpoints, DNA Repair and More
Current Pharmaceutical Biotechnology DLEU1: A Functional Long Noncoding RNA in Tumorigenesis
Current Pharmaceutical Design New Indications for Established Drugs: Combined Tumor-Stroma-Targeted Cancer Therapy with PPARγ Agonists, COX-2 Inhibitors, mTOR Antagonists and Metronomic Chemotherapy
Current Cancer Drug Targets Apoptosis-Inducing Effects of Amaryllidaceae Alkaloids
Current Medicinal Chemistry Recent Developments on 1,2,4-Triazole Nucleus in Anticancer Compounds: A Review
Anti-Cancer Agents in Medicinal Chemistry Targeting the Eph System with Peptides and Peptide Conjugates
Current Drug Targets Preferentially Expressed Antigen in Melanoma (PRAME) and the PRAME Family of Leucine-Rich Repeat Proteins
Current Cancer Drug Targets Efficient Expression and Purification of Recombinant Therapeutic Protein Candidates, Human Midkine and Pleiotrophin
Current Pharmaceutical Biotechnology Small Molecular Inhibitors Targeting Chromatin Regulating Proteins for Cancer
Current Protein & Peptide Science The Correspondence Between Magnetic Resonance Images and the Clinical and Intraoperative Status of Patients with Spinal Tumors
Current Medical Imaging Imaging Virus-Associated Cancer
Current Pharmaceutical Design