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NKX3.1-expressing intermediate Basal-B cells represent a transient basal stem cell state during prostate regeneration, inflammation and cancer initiation. Remarkably, activation of JAK/STAT signaling is essential in regulating expansion and differentiation of Basal-B-like cells during prostate inflammation, identifying this signaling pathway as a potential therapeutic target in prostatitis associated with increased Basal-B signature.
This study identifies Basal-B cells as a transient cell state during prostate homeostasis and androgen-mediated regeneration. These cells exist in humans and increase in number with prostatitis and inflammation.
Structural variations (SVs) impact gene expression, genome stability and disease susceptibility. This Review discusses recent advances in genome-engineering tools that enable precise SV generation and highlights the challenges that remain.
Despite extensive advancements in cancer genetics in North America and Europe, the African continent remains underrepresented in this vital research area. Here we highlight a pioneering collaborative project in Kenya, with a focus on expanding cancer genetics services and research into retinoblastoma, a prototypical heritable cancer syndrome.
Genome-wide association study of cerebrospinal fluid and brain metabolites highlights the unique genetic architecture of metabolite levels and metabolite–trait associations with brain-related phenotypes.
A second hit to Brca1 in heterozygous mice leads to accelerated tumor development compared to wild-type mice in which both alleles are simultaneously deleted. This is because of an epigenetic state associated with Brca1 haploinsufficiency that impacts AP-1 and Wnt10a.
Proteogenomic analysis of human cerebrospinal fluid by measuring 6,361 proteins in 3,506 individuals identifies new protein QTLs and highlights genetic regulation involved in neurological processes.
The standardized naming of gene variants in both databases and publications is crucial to ensure their discoverability and clinical application. Efforts are underway in conjunction with the Human Genome Organization (HUGO) to develop a field standard for variant reporting through the use of validation software prior to publication.
The calcium-dependent protein kinase ZmCPK39 is identified as a key immune component in maize infected with foliar pathogens. Its expression is lower in resistant maize lines than in susceptible lines, leading to stabilization of the transcription factor ZmDi19, elevated expression of the anti-microbial protein ZmPR10 and enhanced resistance to multiple foliar diseases.
Multiomics joint analyses based on a structural variant (SV) map from 16 genome assemblies and 2,105 resequenced accession genomes shed light on the regulatory effect of SVs on gene expression and trait variation in Brassica napus.
This review describes evidence of multiple Denisovan populations, each with varying relatedness to Altai Denisovans, that introgressed into modern humans and highlights how introgression influenced human adaptation to a range of environments.