Gene Mapping
Summary
Gene mapping is the discipline devoted to determining the linear order and chromosomal coordinates of genes and other genomic elements. Traditional genetic mapping employs linkage analysis, in which recombination frequencies between markers observed in controlled crosses or pedigrees are translated into map distances measured in centimorgans. Physical mapping complements this by assigning landmarks—such as sequence‐tagged sites, restriction sites or fluorescent in situ hybridisation signals—to specific positions on chromosomes, measured in base pairs. The integration of high‐density single‐nucleotide polymorphism arrays, next‐generation sequencing and optical mapping has transformed resolution from megabase‐scale to single‐kilobase or even single‐base precision. These approaches underpin genome assembly, the discovery of loci underlying inherited traits, genome‐wide association studies and the identification of structural rearrangements. Modern gene maps thus serve as foundational resources for precision medicine, crop and livestock improvement, conservation genomics and gene‐editing applications, reflecting their global impact across biology and agriculture.
Research from Nature Portfolio
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Research from all publishers
A phenome‐wide association study of over 420 000 participants in a large biobank systematically mapped sequence variants in microRNA precursor, mature and seed regions against hundreds of clinical diagnoses. By integrating genotyping and hospital records, the study pinpointed more than 120 significant associations with cardiovascular, metabolic, immune and gastrointestinal traits, demonstrating how dense variant maps of non‐coding elements can illuminate pleiotropic effects across organ systems.
An observational cohort of acute coronary syndrome patients was genotyped for the miR-146a rs2910164 polymorphism and followed for clinical outcomes. Carriers of the G allele suffered higher rates of adverse events after intervention. Functional mapping of oxidatively modified miR-146a revealed altered pairing with the 3′‐untranslated region of an inhibitor of NF-κB, providing a concrete example of how single-nucleotide variants in non-coding regulators can be precisely located and mechanistically linked to disease progression.
A comprehensive synthesis of single-nucleotide polymorphisms in microRNA-binding sites within 3′‐UTRs collated experimental and computational evidence to chart dozens of functional variants. These maps correlate individual SNPs with cancer susceptibility, therapeutic response and survival, underscoring the necessity of integrated variant maps for biomarker discovery and personalised oncology.
Gene Mapping publication trend
The graph below shows the total number of articles in gene mapping across all publications each year (not limited to Nature Index journals).
Technical terms
Genetic mapping: A method for ordering genes or markers by measuring recombination frequencies in meiosis, expressed in centimorgans (cM).
Physical mapping: A technique for assigning DNA markers to precise chromosomal coordinates in base pairs, using cytogenetic or molecular methods.
Phenome‐wide association study (PheWAS): An analytical framework that tests the effects of genetic variants across a broad spectrum of clinical phenotypes.
Single‐nucleotide polymorphism (SNP): A single‐base variation at a specific genomic position among individuals.
Fluorescence in situ hybridisation (FISH): A cytogenetic assay employing fluorescent probes to localise DNA sequences on metaphase or interphase chromosomes.
References
- Phenome-wide association study on miRNA-related sequence variants: the UK Biobank. Human Genomics (2023).
- MiR-146a rs2910164 (G/C) polymorphism is associated with the development and prognosis of acute coronary syndromes: an observational study including case control and validation cohort. Journal of Translational Medicine (2023).
- SNPs in microRNA target sites and their potential role in human disease. Open Biology (2017).
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