Although tomato has been the subject of extensive quantitative trait loci (QTLs) mapping experiments, most of this work has been conducted on transient populations (e.g., F2 or backcross) and few homozygous, permanent mapping populations are available. To help remedy this situation, we have developed a set of inbred backcross lines (IBLs) from the interspecific cross between Lycopersicon esculentum cv. E6203 and L. pimpinellifolium (LA1589). A total of 170 BC2F1 plants were selfed for five generations to create a set of homozygous BC2F6 lines by single-seed descent. These lines were then genotyped for 127 marker loci covering the entire tomato genome. These IBLs were evaluated for 22 quantitative traits. In all, 71 significant QTLs were identified, 15% (11/71) of which mapped to the same chromosomal positions as QTLs identified in earlier studies using the same cross. For 48% (34/71) of the detected QTLs, the wild allele was associated with improved agronomic performance. A number of new QTLs were identified including several of significant agronomic importance for tomato production: fruit shape, firmness, fruit color, scar size, seed and flower number, leaf curliness, plant growth, fertility, and flowering time. To improve the utility of the IBL population, a subset of 100 lines giving the most uniform genome coverage and map resolution was selected using a randomized greedy algorithm as implemented in the software package MapPop (http://www.bio.unc.edu/faculty/vision/lab/ mappop/). The map, phenotypic data, and seeds for the IBL population are publicly available (http://soldb.cit.cornell.edu) and will provide tomato geneticists and breeders with a genetic resource for mapping, gene discovery, and breeding.
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http://dx.doi.org/10.1139/g02-091 | DOI Listing |
Alzheimers Dement
December 2024
Washington University School of Medicine, Saint Louis, MO, USA.
Background: The recent European-ancestry based genome-wide association study (GWAS) of Alzheimer disease (AD) by Bellenguez2022 has identified 75 significant genetic loci, but only a few have been functionally mapped to effector gene level. Besides the large-scale RNA expression, protein and metabolite levels are key molecular traits bridging the genetic variants to AD risk, and thus we decided to integrate them into the genetic analysis to pinpoint key proteins and metabolites underlying AD etiology. Few studies have generated more than one layer of post-transcriptional phenotypes, limiting the scale of biological translation of disease modifying treatments.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Background: Recent genetic studies have implicated >70 genomic loci associated with the risk for Alzheimer's Disease. However, the underlying functional mechanisms remain unclear. Several functional genomics (FG) methods such as chromosome conformation (CC) capture technologies and expression quantitative trait loci (eQTLs) have been developed to study the genetic targets.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Washington University in St. Louis, School of Medicine, St. Louis, MO, USA.
Background: The integration of quantitative trait loci (QTLs) with disease genome-wide association studies (GWAS) has proven successful at prioritizing candidate genes at disease-associated loci. Most of QTL studies are focusing on expression QTLs in plasma and brain and cis-signals.
Method: Here we analyzed a large proteomic (Somalogic 7K) and metabolomic (Metabolon HD4) CSF (n = 3, 000) and plasma (African (AFR, N = 400) and European (EUR, N = 2,300) ancestry, respectively) to identify novel QTLs.
Alzheimers Dement
December 2024
Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Background: The FunGen-xQTL project has significantly advanced genetics by developing and exploring novel quantitative trait loci (QTL) types in human brains, enriching our understanding of complex neurological disease etiology. We broadened the scope of epigenomic QTL analysis, integrating histone acetylation QTLs (haQTLs) and methylation QTLs (mQTLs) that affect multiple histone acetylation peaks or methylation CpG sites spatially. Additionally, we investigated a new category of splicing QTLs (sQTLs) implicated in nonsense-mediated decay (NMD).
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Background: To gain a deeper understanding of underlying molecular mechanisms in genomic regions associated with Alzheimer's disease (AD), the National Institute on Aging (NIA) launched the Alzheimer's Disease Sequencing Project (ADSP) Functional Genomics Consortium (FunGen-AD) in 2021.
Method: The first effort of this collaboration, coordinated by the NIA Genetics of Alzheimer's Disease Data Storage Site (NIAGADS), aggregated functional genomics (FG) data from 5 cohorts, including ∼3,000 samples of European (EA) and African ancestries (AA). We used this data to map Quantitative Trait Loci (xQTL) on AD-specific human tissues and cells, providing insights into how non-coding genetic variants contribute to AD risk.
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