The hypothesis of the existence of one or more schizophrenia susceptibility loci on chromosome 22q is supported by reports of genetic linkage and association, meta-analyses of linkage, and the observation of elevated risk for psychosis in people with velocardiofacial syndrome, caused by 22q11 microdeletions. We tested this hypothesis by evaluating 10 microsatellite markers spanning 22q in a multicenter sample of 779 pedigrees. We also incorporated age at onset and sex into the analysis as covariates. No significant evidence for linkage to schizophrenia or for linkage associated with earlier age at onset, gender, or heterogeneity across sites was observed. We interpret these findings to mean that the population-wide effects of putative 22q schizophrenia susceptibility loci are too weak to detect with linkage analysis even in large samples.
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http://dx.doi.org/10.1038/sj.mp.4001481 | DOI Listing |
BMC Genomics
January 2025
Department of Agronomy, Horticulture, and Plant Science, South Dakota State University (SDSU), Brookings, SD, 57007, USA.
Background: Hexaploid oat (Avena sativa L.) is a commercially important cereal crop due to its soluble dietary fiber β-glucan, a hemicellulose known to prevent cardio-vascular diseases. To maximize health benefits associated with the consumption of oat-based food products, breeding efforts have aimed at increasing the β-glucan content in oat groats.
View Article and Find Full Text PDFAm J Hum Genet
January 2025
Division of Biostatistics, Data Science Institute, Medical College of Wisconsin, Milwaukee, WI, USA; Cancer Center, Medical College of Wisconsin, Milwaukee, WI, USA. Electronic address:
Mosaic loss of Y (mLOY) is the most common somatic chromosomal alteration detected in human blood. The presence of mLOY is associated with altered blood cell counts and increased risk of Alzheimer disease, solid tumors, and other age-related diseases. We sought to gain a better understanding of genetic drivers and associated phenotypes of mLOY through analyses of whole-genome sequencing (WGS) of a large set of genetically diverse males from the Trans-Omics for Precision Medicine (TOPMed) program.
View Article and Find Full Text PDFPLoS Pathog
January 2025
Department of Biology, Johns Hopkins University, Baltimore, Maryland, United States of America.
Widespread anthelmintic resistance has complicated the management of parasitic nematodes. Resistance to the benzimidazole (BZ) drug class is nearly ubiquitous in many species and is associated with mutations in beta-tubulin genes. However, mutations in beta-tubulin alone do not fully explain all BZ resistance.
View Article and Find Full Text PDFBMC Plant Biol
January 2025
The Institute of Plant Sciences and Genetics, Faculty of Agriculture, The Hebrew University of Jerusalem, Rehovot, 7610001, Israel.
Background: Plant breeding research heavily relies on wild species, which harbor valuable traits for modern agriculture. This work employed a new introgression population derived from Solanum pennellii (LA5240), a wild tomato native to Peru, composed of 1,900 genotyped backcross inbred lines (BILs_BC2S6) in the tomato inbreds LEA and TOP cultivated genetic backgrounds. This Peruvian accession was found resistant to the most threatening disease of tomatoes today, caused by the tobamovirus tomato brown rugose fruit virus (ToBRFV).
View Article and Find Full Text PDFStructural variations (SVs) play important roles in genetic diversity, evolution, and carcinogenesis and are, as such, important for human health. However, it remains unclear how spatial proximity of double-strand breaks (DSBs) affects the formation of SVs. To investigate if spatial proximity between two DSBs affects DNA repair, we used data from 3C experiments (Hi-C, ChIA-PET, and ChIP-seq) to identify highly interacting loci on six different chromosomes.
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