Abstract
Sequencing of the human genome has opened the door to the most exciting new era for studying complex genetic traits. Positional cloning is a powerful approach, and is aimed at the identification and cloning genes, based on their chromosomal location identified through linkage analysis. The past decade has seen substantial success in identifying genes responsible for monogenic disorders while progress in gene identification for more common, multifactorial diseases has been slower. With completion of human genome sequencing the relevance of this approach is growing, with the rapidly increasing information and characterization of the human genome providing the opportunity to resolve complex diseases, as demonstrated in several recent studies. Recently, we identified a susceptibility locus for human Uric Acid Nephrolithiasis (UAN) on 10q21-q22 and showed that a variant of a novel gene encoding a specific protein is associated with Uric Acid Nephrolithiasis (OMIM 605990). Inspired by this successful identification, this paper briefly summarizes the genetical basis of Uric Acid Nephrolithiasis, and the evolutionary adaptation of the predisposing gene in a complex puzzle of inherited factors that we have disclosed through a comparative genomic approach.
Keywords: uric acid nephrolithiasis, human genome sequencing, positional cloning, genomic approach
Current Genomics
Title: Genes, Human Diseases and Genome Evolution in the Post-Genomic Era: Insights from Uric Acid Nephrolithiasis
Volume: 6 Issue: 3
Author(s): Fernando Gianfrancesco and Teresa Esposito
Affiliation:
Keywords: uric acid nephrolithiasis, human genome sequencing, positional cloning, genomic approach
Abstract: Sequencing of the human genome has opened the door to the most exciting new era for studying complex genetic traits. Positional cloning is a powerful approach, and is aimed at the identification and cloning genes, based on their chromosomal location identified through linkage analysis. The past decade has seen substantial success in identifying genes responsible for monogenic disorders while progress in gene identification for more common, multifactorial diseases has been slower. With completion of human genome sequencing the relevance of this approach is growing, with the rapidly increasing information and characterization of the human genome providing the opportunity to resolve complex diseases, as demonstrated in several recent studies. Recently, we identified a susceptibility locus for human Uric Acid Nephrolithiasis (UAN) on 10q21-q22 and showed that a variant of a novel gene encoding a specific protein is associated with Uric Acid Nephrolithiasis (OMIM 605990). Inspired by this successful identification, this paper briefly summarizes the genetical basis of Uric Acid Nephrolithiasis, and the evolutionary adaptation of the predisposing gene in a complex puzzle of inherited factors that we have disclosed through a comparative genomic approach.
Export Options
About this article
Cite this article as:
Gianfrancesco Fernando and Esposito Teresa, Genes, Human Diseases and Genome Evolution in the Post-Genomic Era: Insights from Uric Acid Nephrolithiasis, Current Genomics 2005; 6 (3) . https://dx.doi.org/10.2174/1389202053971965
DOI https://dx.doi.org/10.2174/1389202053971965 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
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
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
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
-
Peganum harmala L. Differentially Modulates Cytochrome P450 Gene Expression in Human Hepatoma HepG2 Cells
Drug Metabolism Letters Thymoquinone Anticancer Discovery: Possible Mechanisms
Current Drug Discovery Technologies Specific Aspects of Drug Hypersensitivity in Children
Current Pharmaceutical Design Plant-based Anti-inflammatory Agents: Progress From Africa and China
Clinical Anti-Inflammatory & Anti-Allergy Drugs (Discontinued) Immunotherapy in Allergies: An Update
Inflammation & Allergy - Drug Targets (Discontinued) Risk Factors for Hyperemesis Gravidarum
Current Women`s Health Reviews Pulmonary Vascular Function in Insulin Resistance and Diabetes
Current Vascular Pharmacology Increased Neuronal Injury in Clock Gene Per-1 Deficient-Mice after Cerebral Ischemia
Current Neurovascular Research Design, Synthesis and Antihistamine Evaluations of Several N-hydroxyalkyl Desloratadine Analogues
Medicinal Chemistry Proteome Analysis of Resting Human Neutrophils
Protein & Peptide Letters Selected Engineering and Physicochemical Aspects of Systemic Drug Delivery by Inhalation
Current Pharmaceutical Design Predicting Drug-Likeness: Why and How ?
Current Topics in Medicinal Chemistry Matrix Metalloproteinases in Lung Diseases
Current Protein & Peptide Science Ethnopharmacological and Phytopharmaceutical Evaluation of Prosopis cineraria: An Overview and Future Prospects
Current Drug Metabolism Neurological Disorders in Medical Use of <i>Cannabis</i>: An Update
CNS & Neurological Disorders - Drug Targets Carbohydrates in Therapeutics
Cardiovascular & Hematological Agents in Medicinal Chemistry Disease-Responsive Drug Delivery: The Next Generation of Smart Delivery Devices
Current Drug Metabolism TLR2 and TLR4 Expression During Bacterial Infections
Current Pharmaceutical Design Stem Cell Factor: A Hemopoietic Cytokine with Important Targets in Asthma
Current Drug Targets - Inflammation & Allergy Substrates and Inhibitors of Human Multidrug Resistance Associated Proteins and the Implications in Drug Development
Current Medicinal Chemistry