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PLD3 is a neuronal lysosomal phospholipase D associated with β-amyloid plaques and cognitive function in Alzheimer’s disease

April 8, 2021

PLD3 is a neuronal lysosomal phospholipase D associated with β-amyloid plaques and cognitive function in Alzheimer’s disease

Pathological hallmarks of Alzheimer's disease in human temporal lobe tissue: Phospholipase D3, which is primarily in neurons, is shown in green and neuritic plaques and neurofibrillary tangles are in red stained with thiazine red.

Image credit: Matthew Schrag

Topic Pages

Read the full Collection of Topic Pages published in PLOS Genetics.

Collection

04/05/2021

Research Article

Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis

Pizzo et al. study a model of additional, or “second-hits,” neurodevelopmental disorder variants beyond a 16p12.1 deletion. They find that 16p12.1 homologs independently lead to multiple neurodevelopmental features and weakly interact with each other, suggesting that interactions with “second-hit” homologs potentially have a higher impact towards neurodevelopmental defects.

Image credit: Pizzo et al., pgen.1009112

Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis

Recently Published Articles

Current Issue

Current Issue May 2021

04/05/2021

Research Article

Ubiquitin-protein ligase Ubr5 cooperates with hedgehog signalling to promote skeletal tissue homeostasis

Mellis et al. develop a murine genetic system to eliminate UBR5 function from embryonic limb tissue. They find that UBR5 suppresses excessive growth of normal cartilage and bone and prevents formation of bone in ectopic sites in connective tissue near the knees and ankle joints. They also identify UBR5 as a regulator of mammalian HH signaling in the postnatal musculoskeletal system.

Image credit: Mark Ditzel

Ubiquitin-protein ligase Ubr5 cooperates with hedgehog signalling to promote skeletal tissue homeostasis

04/08/2021

Research Article

Sex-stratified genome-wide association study of multisite chronic pain in UK Biobank

Johnston et al. look for genetic variants associated with Multisite Chronic Pain (MCP) in a sex-stratified genome-wide association study, and find that risk for MCP is associated with chronic widespread pain in a sex-differential manner. They note that sex differences in chronic pain exist at the SNP, gene and transcript abundance level, and highlight possible sex-specific pleiotropy for MCP.

Image credit: Peggy and Marco Lachmann-Anke, Pixabay

Sex-stratified genome-wide association study of multisite chronic pain in UK Biobank

04/01/2021

Research Article

Identification of common predisposing loci to hematopoietic cancers in four dog breeds

Hédan et al. show that canine predisposition to histiocytic sarcoma is due to the additive effect of several risk haplotypes also involved in the predisposition of other hematopoietic cancers. The corresponding chromosomal regions in humans are involved in the predisposition of several cancers and are also associated with immune traits.

Identification of common predisposing loci to hematopoietic cancers in four dog breeds

Image credit: Lars_Nissen, Pixabay

04/02/2021

Research Article

Extracellular spreading of Wingless is required for Drosophila oogenesis

Wang et al. show that two copies of tethered Wg cause a non-specific Wg toxicity; but that even when the dose-tethered Wg is reduced, ovaries have negligible follicle stem cell proliferation and produce few eggs. They therefore find that extracellular Wg spreading is essential for follicle stem cell proliferation and oogenesis.

Extracellular spreading of Wingless is required for Drosophila oogenesis

Image credit: Wang et al., pgen.1009469

05/20/2021

Review

Gene action, genetic variation, and GWAS: A user-friendly web tool

Hivert et al. present the Falconer ShinyApp, a user-friendly web tool that shows how the combination of gene action and allele frequencies at causal loci translate to genetic variance and genetic variance components for a complex trait.

Gene action, genetic variation, and GWAS: A user-friendly web tool

Image credit: Darwin Laganzon, Pixabay

04/22/2021

Perspective

Putting the brakes on centromere drive in Mimulus

Chang and Malik highlight a new study (pgen.1009418) showing an active co-evolutionary arms race between DNA and protein components of the meiotic machinery in Mimulus, with consequences for individual fitness and molecular divergence.

Putting the brakes on centromere drive in Mimulus

Image credit: Finseth et al., pgen.1009418

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