Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
With the increased availability of high-resolution sequence information, genome-wide association (GWA) studies have become feasible in a number of species. The vast majority of these studies are conducted in human populations, where it is difficult to provide strong evidence for the functional involvement of unknown genes that are identified using GWA. Here we used the model organism Arabidopsis thaliana to combine high-throughput confocal microscopy imaging of traits at the cellular level, GWA and expression analyses to identify genomic regions that are associated with developmental cell-type traits. We identify and characterize a new F-box gene, KUK, that regulates meristem and cell length. We further show that polymorphisms in the coding sequence are the major causes of KUK allele-dependent natural variation in root development. This work demonstrates the feasibility of GWA using cellular traits to identify causal genes for basic biological processes such as development.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/ng.2824 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.
Genome Biol
September 2025
Center for Genomic Medicine, Cardiovascular Research Center, , Massachusetts General Hospital Simches Research Center, 185 Cambridge Street, CPZN 5.238,, Boston, MA, 02114, USA.
Background: Rare genetic variation provided by whole genome sequence datasets has been relatively less explored for its contributions to human traits. Meta-analysis of sequencing data offers advantages by integrating larger sample sizes from diverse cohorts, thereby increasing the likelihood of discovering novel insights into complex traits. Furthermore, emerging methods in genome-wide rare variant association testing further improve power and interpretability.
View Article and Find Full Text PDFGenome-wide mapping of RNA-protein associations through sequencing.
Nat Biotechnol
September 2025
Institute of Engineering in Medicine, University of California, San Diego, La Jolla, CA, USA.
RNA-protein interactions critically regulate gene expression and cellular processes, yet their comprehensive mapping remains challenging due to their structural diversity. We introduce PRIM-seq (protein-RNA interaction mapping by sequencing), a method for concurrent de novo identification of RNA-binding proteins and their associated RNAs. PRIM-seq generates unique chimeric DNA sequences by proximity ligation of RNAs with protein-linked DNA barcodes, which are subsequently decoded through sequencing.
View Article and Find Full Text PDFSingle-cell analysis of Barrett's esophagus and carcinoma reveals cell types conferring risk via genetic predisposition.
Cell Genom
September 2025
Institute of Pathology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany. Electronic address:
Inherited genetic variants contribute to Barrett's esophagus (BE) and esophageal adenocarcinoma (EAC), but it is unknown which cell types are involved in this process. We performed single-cell RNA sequencing of BE, EAC, and paired normal tissues and integrated genome-wide association data to determine cell-type-specific genetic risk and cellular processes that contribute to BE and EAC. The analysis reveals that EAC development is driven to a greater extent by local cellular processes than BE development and suggests that one cell type of BE origin (intestinal metaplasia cells) and cellular processes that control the differentiation of columnar cells are of particular relevance for EAC development.
View Article and Find Full Text PDFUnraveling the link: Is Parkinson's disease a causal factor for glaucoma? Insights from Mendelian randomization.
Sci Prog
September 2025
Xiamen Eye Center and Eye Institute of Xiamen University, School of Medicine, Xiamen, China.
BackgroundGlaucoma is recognized as the second-leading cause of complete blindness in developed countries and a significant contributor to irreversible vision loss worldwide. Understanding the potential genetic links between neurodegenerative diseases, such as Parkinson's disease, and glaucoma is crucial for developing preventive strategies.MethodsThis study utilized data from Genome-Wide Association Studies databases, focusing on European populations without gender restrictions.
View Article and Find Full Text PDFGenome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.
Invest Ophthalmol Vis Sci
September 2025
The University of Leicester Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, United Kingdom.
Purpose: To define the genetic architecture of foveal morphology and explore its relevance to foveal hypoplasia (FH), a hallmark of developmental macular disorders.
Methods: We applied deep-learning algorithms to quantify foveal pit depth from central optical coherence tomography (OCT) B-scans in 61,269 UK Biobank participants. A genome-wide association study (GWAS) was conducted using REGENIE, adjusting for age, sex, height, and ancestry.