Abstract
Aquaporin (AQP) water channel proteins are responsible for osmotically driven water transport across cell membranes of mammalian tissues, lower animals and plants. Recently, the cDNAs encoding ten mammalian AQPs with widely different tissue expression patterns have been cloned. This article reviews the recent progress in molecular cloning, gene organization, chromosomal localization and mutations of human AQPs. Sequence and genomic structure analyses indicate that the AQP gene family contains at least three subgroup. AQPs 0, 1, 2, 4, 5 and 6 have 40-50 percent amino acid homology and their genes contain 4 exons. AQPs 3, 7 and 9 belong to distinct subfamily that contains 6 exons and functions as transporters of small neutral solutes as well as water. AQP8 belongs to the third subgroup with unique exon-intron boundaries. Mutations in AQP2 cause human nephrogenic diabetes insipidus (NDI). The understanding of AQP genetics is important in studying the pathogenesis of diseases related AQP disorders a nd finding new targets for therapy.
Keywords: Aquaporin Gene Family, AQP, Human aquaporins, Human AQP9, Aquaporin Gene Cluster, CDNA sequences
Current Genomics
Title: The Human Aquaporin Gene Family
Volume: 1 Issue: 1
Author(s): Baoxue Yang
Affiliation:
Keywords: Aquaporin Gene Family, AQP, Human aquaporins, Human AQP9, Aquaporin Gene Cluster, CDNA sequences
Abstract: Aquaporin (AQP) water channel proteins are responsible for osmotically driven water transport across cell membranes of mammalian tissues, lower animals and plants. Recently, the cDNAs encoding ten mammalian AQPs with widely different tissue expression patterns have been cloned. This article reviews the recent progress in molecular cloning, gene organization, chromosomal localization and mutations of human AQPs. Sequence and genomic structure analyses indicate that the AQP gene family contains at least three subgroup. AQPs 0, 1, 2, 4, 5 and 6 have 40-50 percent amino acid homology and their genes contain 4 exons. AQPs 3, 7 and 9 belong to distinct subfamily that contains 6 exons and functions as transporters of small neutral solutes as well as water. AQP8 belongs to the third subgroup with unique exon-intron boundaries. Mutations in AQP2 cause human nephrogenic diabetes insipidus (NDI). The understanding of AQP genetics is important in studying the pathogenesis of diseases related AQP disorders a nd finding new targets for therapy.
Export Options
About this article
Cite this article as:
Yang Baoxue, The Human Aquaporin Gene Family, Current Genomics 2000; 1 (1) . https://dx.doi.org/10.2174/1389202003351832
DOI https://dx.doi.org/10.2174/1389202003351832 |
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
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
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Deep learning in Single Cell Analysis
The field of biology is undergoing a revolution in our ability to study individual cells at the molecular level, and to integrate data from multiple sources and modalities. This has been made possible by advances in technologies for single-cell sequencing, multi-omics profiling, spatial transcriptomics, and high-throughput imaging, as well as ...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
-
Heme Oxygenase-1/CO as Protective Mediators in Cigarette Smoke- Induced Lung Cell Injury and Chronic Obstructive Pulmonary Disease
Current Pharmaceutical Biotechnology Tanshinone IIA: Pharmacology, Total Synthesis, and Progress in Structure-modifications
Current Medicinal Chemistry Diagnosis and Management of Hypertensive Emergencies Complicating Pregnancy
Current Women`s Health Reviews AMPK as a New Attractive Therapeutic Target for Disease Prevention: The Role of Dietary Compounds AMPK and Disease Prevention
Current Drug Targets Drugs, Trials and Pathogenesis: Will Connecting these Help us Understand SLE?
Current Rheumatology Reviews Polymeric Radiotracers in Nuclear Imaging
Current Drug Delivery Polymer Structures for Sensors and Actuators 1. Analyte Biosensor
Recent Patents on Materials Science COPD Phenotypes and Biomarkers: Introducing Personalised Medicine
Current Respiratory Medicine Reviews Anesthesia Issues in Central Nervous System Disorders
Current Aging Science New Genetic and Pharmacological Treatments for Cystic Fibrosis
Current Pediatric Reviews Do Adult Stem Cells Ameliorate the Damaged Myocardium? Human Cord Blood as a Potential Source of Stem Cells
Current Vascular Pharmacology Development of New Drugs for COPD
Current Medicinal Chemistry Dasatinib: An Anti-Tumour Agent via Src Inhibition
Current Drug Targets Gender Bias in Acute Coronary Syndromes
Current Vascular Pharmacology Developments of Anticoagulants and New Agents with Anti-Coagulant Effects in Deep Vein Thrombosis
Mini-Reviews in Medicinal Chemistry Dependence of DPPH Radical Scavenging Activity of Dietary Flavonoid Quercetin on Reaction Environment
Mini-Reviews in Medicinal Chemistry Clinical Perspectives on the Role of Anti-Platelet and Statin Therapy in Patients with Vascular Diseases
Current Vascular Pharmacology Sympathetic Activation in Congestive Heart Failure: Evidence, Consequences and Therapeutic Implications
Current Vascular Pharmacology Emerging Role of Bone Morphogenetic Proteins as a Context Dependent Pro-Angiogenic Cue
Current Angiogenesis (Discontinued) Sulfonamides and Sulfonylated Derivatives as Anticancer Agents
Current Cancer Drug Targets