AI Article Synopsis
- Variation in the human genome plays a crucial role in understanding genetic influences on complex traits and diseases.
- Structural genomic rearrangements, such as deletions and duplications, contribute significantly to genetic diversity beyond just single nucleotide polymorphisms.
- Changes in gene number, position, and epigenetic modifications can impact gene expression regulation, leading to variability in complex phenotypes.
Article Abstract
Objectives: Variation in the human genome may explain genetic contributions to complex traits and common diseases.
Findings: Until recently, single nucleotide polymorphisms were thought to be the most prevalent form of interindividual genetic variation. However, structural genomic rearrangements such as deletions, duplications, and inversions lead to variation in gene copy number and contribute even more to genomic diversity. Other sources of genomic variation include noncoding genes, pseudogenes, and mobile genetic elements (transposons).
Conclusions: Genome dynamics, including changes in gene number and position as well as epigenetic modifications of coding and noncoding sequences, can affect regulation of gene expression and may contribute to the variability of complex phenotypes.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
How a Medical Student Found Himself in a Human Genome Free for All.
Annu Rev Genomics Hum Genet
January 2025
Department of Genome Sciences, School of Medicine, University of Washington, Seattle, Washington, USA;
In this short memoir, I recount the series of improbable interactions and events that led me from medical school to a leadership role in the Human Genome Project.
View Article and Find Full Text PDFChromosome length genome assembly of the stone marten (Martes foina, Mustelidae): a new view on one of the cornerstones in carnivore cytogenetics.
J Hered
January 2025
Center for Evolutionary Hologenomics, The Globe Institute, The University of Copenhagen, 5A, Oester Farimagsgade, Copenhagen, 1353, Denmark.
The stone marten (Martes foina) is an important species for cytogenetic studies in the order Carnivora. ZooFISH probes created from its chromosomes provided a strong and clean signal in chromosome painting experiments and were valuable for studying the evolution of carnivoran genome architecture. The research revealed that the stone marten chromosome set is similar to the presumed ancestral karyotype of the Carnivora, which added an additional value for the species.
View Article and Find Full Text PDFThe genetic architecture of resistance to flubendiamide insecticide in Helicoverpa armigera (Hübner).
PLoS One
January 2025
Department of Entomology and Acarology, Luiz de Queiroz College of Agriculture (ESALQ), University of São Paulo (USP), Piracicaba, São Paulo, Brazil.
Insecticide resistance is a major problem in food production, environmental sustainability, and human health. The cotton bollworm Helicoverpa armigera is a globally distributed crop pest affecting over 300 crop species. H.
View Article and Find Full Text PDFSensitivity to Environmental Stress and Adversity and Lung Cancer.
JAMA Netw Open
January 2025
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland.
Importance: Sensitivity to environmental stress and adversity may influence lung cancer risk, highlighting a critical link between psychosocial factors and cancer etiology.
Objective: To evaluate whether genetically estimated sensitivity to environmental stress and adversity is associated with lung cancer risk.
Design, Setting, And Participants: Data were obtained from a genome-wide association study identifying 37 independent genetic variants strongly associated with sensitivity to environmental stress and adversity and a cross-ancestry genome-wide meta-analysis from the International Lung Cancer Consortium.
Identification of Functionally-Relevant Lentivirus Integration Sites in an Insertional Mutagenesis Cell Library.
J Vis Exp
January 2025
State Key Laboratory of Cellular Stress Biology, School of Life Sciences, Xiamen University;
The extent of functional sequences within the human genome is a pivotal yet debated topic in biology. Although high-throughput reverse genetic screens have made strides in exploring this, they often limit their scope to known genomic elements and may introduce non-specific effects. This underscores the urgent need for novel functional genomics tools that enable a deeper, unbiased understanding of genome functionality.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!