Gene mutation
Pro Research Analysisby 
Searched over 200M research papers for "gene mutation"
Consensus Meter
Gene Mutation: Insights from Recent Research
Human Gene Mutation Database (HGMD)
The Human Gene Mutation Database (HGMD) is a comprehensive repository of published germline mutations in nuclear genes associated with human inherited diseases. As of June 2020, HGMD contains over 289,000 different gene lesions identified in more than 11,100 genes, curated from nearly 73,000 articles published in over 3,100 peer-reviewed journals . This database is an essential tool for researchers, clinicians, and genetic counselors, facilitating the annotation of next-generation sequencing data and aiding in genetic diagnosis and medical research .
Mutation Detection and Characterization
Detecting and characterizing mutations in genes is crucial for understanding various biological phenomena, including speciation, tumor formation, drug resistance, and inherited diseases. Traditional methods like fluctuation analysis and mutant accumulation assays measure mutation rates by observing phenotypic changes, but these methods are limited to a few known phenotypic changes. Direct sequencing offers a more comprehensive approach, allowing the measurement of mutation rates without relying on phenotypic changes, thus applicable to any genomic region.
Types and Rates of Gene Mutations
Gene mutations can be classified into single-gene mutations and chromosomal mutations. Single-gene mutations involve changes in individual genes, while chromosomal mutations involve larger segments of chromosomes or entire chromosomes. Both types contribute to inherited and acquired diseases, with mutation rates varying by gene and age. For instance, a single disease like hemophilia B can result from multiple different alterations within the responsible gene.
Mutation Hotspots and Genomic Architecture
Certain regions of the human genome are more prone to mutations, known as mutation hotspots. These hotspots can result from normal processes like meiotic recombination or DNA replication errors and are subject to selection pressures that can lead to disease. The local DNA sequence environment and higher-order genomic architecture significantly influence the nature, size, and location of mutations. Specific DNA sequences are inherently mutation-prone due to their base composition, repetitivity, and epigenetic modifications. Non-canonical DNA structures can also increase mutation frequencies by interfering with DNA replication and repair processes.
Mutation in Pathology and Evolution
Mutations play a dual role in pathology and evolution. The same mechanisms that cause disease-associated mutations also drive evolutionary changes. Germline mutations responsible for inherited diseases, somatic mutations in tumorigenesis, and polymorphisms share common causal mechanisms, linking molecular medicine with molecular evolution. This continuum of genetic change underscores the interconnectedness of population genetics and molecular evolution with human health and disease.
Conclusion
Gene mutations are fundamental to understanding human biology, disease, and evolution. The HGMD serves as a vital resource for cataloging these mutations, aiding in research and clinical diagnostics. Advances in mutation detection and characterization, along with insights into mutation hotspots and genomic architecture, continue to enhance our understanding of the genetic underpinnings of disease and evolution.
Sources and full results
Most relevant research papers on this topic