Search bioRxiv⌕ Search

Biology subjects

Karlsson, T.

Publications and source records attributed to Karlsson, T..

5 recordsLinked to original sources

Integrated Classification of Cortical Cells and Quantitative Projectomic Mapping Unveil Organizational Principles of Brain-Wide Connectomes at Single Cell Level

Molecularly defined cortical cell types have recently been linked to whole neuronal morphology (WNM), particularly those characterized by whole-brain-wide projections, such as intratelencephalic (IT), extratelencephalic (ET), and corticothalamic (CT) neurons. In contrast, classical morphological classifications (e.g., tufted TPC, small tufted SPC, and stellate SSC) are based primarily on local dendrosomatic and axonal structures, especially apical dendrites. This study bridges these perspectives by establishing a new neuronal taxonomy, analyzing the connectomes of defined cortical cell types, and comparing them with those obtained from bulk anterograde injections. Neurons were sparsely labeled via tamoxifen-inducible Cre lines with GFP reporters, and 1,419 WNM cells were comprehensively reconstructed with Vaa3D-TeraVR from [~]15 areas across six functional regions of molecularly labeled brains imaged with 2p-fMOST. These cells were newly classified by integrating current molecular-WNM and classical morphological perspectives, with sample size augmented by 1,455 publicly available WNM cells reconstructed from the Mouse-Light project and CEBSIT. This effort defined ten combined molecular-WNM-classical morphological cell types: L5ET_TPC, L6CT_NPC, L6b_HPC, and seven IT types--L2/3IT_TPC, L4IT_SSC, L4IT_UPC, L4IT_TPC, L5IT_SPC, L6IT_IPC, and L6IT_car3PC. Clustering, quantitative analyses and random Forest classifier objectively validated these types and revealed their distinct connectomes, along with convergent, topographic, and hierarchical organizations across their projection brain regions. At the single-cell level, multiple organizational principles governing cortico-cortical (C-C) and cortico-subcortical (C-subC) connectomes emerged with unprecedented detail, offering a precise GPS-like tool for in vivo recordings and robust datasets for neuronal network modeling. Comparisons with bulk anterograde injection data underscored the limitations of traditional methods in identifying projection targets. Overall, our approach provides significant insights into cortical circuitry and elucidates the complex interplay between neuronal molecular identity, whole morphology, and classical morphological classification.

neuroscience↗

Nuclear upregulation of PI3K p110β correlates with increased rRNA transcription in endometrial cancer cells

Genes encoding for components of the phosphoinositide 3-kinase (PI3K) pathway are frequently mutated in cancer, including inactivating mutations of PTEN and activating mutations of PIK3CA, encoding the PI3K catalytic subunit p110. PIK3CB, encoding p110{beta}, is rarely mutated, but can contribute to tumourigenesis in some PTEN-deficient tumours. The underlying molecular mechanisms are however poorly understood. By analysing cell lines and annotated clinical samples, we have previously found that p110{beta} is highly expressed in endometrial cancer (EC) cell lines and that PIK3CB mRNA levels increase early in primary tumours correlating with lower survival. Selective inhibition of p110 and p110{beta} led to different effects on cell signalling and cell function, p110 activity being correlated to cell survival in PIK3CA mutant cells and p110{beta} with cell proliferation in PTEN-deficient cells. To understand the mechanisms governing the differential roles of these isoforms, we assessed their sub-cellular localisation. p110 was cytoplasmic whereas p110{beta} was both cytoplasmic and nuclear with increased levels in both compartments in cancer cells. Immunohistochemistry of p110{beta} in clinically annotated patient tumour sections revealed high nuclear/cytoplasmic staining ratio, which correlated significantly with higher grades. Consistently, the presence of high levels of p110{beta} in the nuclei of EC cells, correlated with high levels of its product phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) in the nucleus. Using immunofluorescence labelling, we observed both p110{beta} and PtdIns(3,4,5)P3 in the nucleoli of EC cell lines. The production of nucleolar PtdIns(3,4,5)P3 was dependent upon p110{beta} activity. EC cells with high levels of nuclear PtdIns(3,4,5)P3 and p110{beta} showed elevated nucleolar activity as assessed by the increase in 47S pre-rRNA transcriptional levels in a p110{beta}-dependent manner. Altogether, these results present a nucleolar role for the PI3K pathway that may contribute to tumour progression in endometrial cancer.

molecular biology↗

Genome-wide association study of body fat distribution identifies novel loci and sex-specific effects

Body mass and body fat composition are of clinical interest due to their links to cardiovascular- and metabolic diseases. Fat stored in the trunk has been suggested as more pathogenic compared to fat stored in other compartments of the body. In this study, we performed genome-wide association studies (GWAS) for the proportion of body fat distributed to the arms, legs and trunk estimated from segmental bio-electrical impedance analysis (sBIA) for 362,499 individuals from the UK Biobank. A total of 97 loci, were identified to be associated with body fat distribution, 40 of which have not previously been associated with an anthropometric trait. A high degree of sex-heterogeneity was observed and associations were primarily observed in females, particularly for distribution of fat to the legs or trunk. Our findings also implicate that body fat distribution in females involves mesenchyme derived tissues and cell types, female endocrine tissues a well as several enzymatically active members of the ADAMTS family of metalloproteinases, which are involved in extracellular matrix maintenance and remodeling.

genetics↗

Genome-wide association analysis identifies 26 novel loci for asthma, hay fever and eczema

The disease risk for asthma, hay fever and eczema include both environmental and genetic risk factors and the comorbidity between the diseases are large. Heritability estimates suggest that the risk of asthma, hay fever and eczema is largely due to genetic factors. In this GWAS, we include 346,545 Caucasian participants from the UK Biobank to increase power to identify novel loci for asthma, hay fever and eczema. We also investigate if associated lead SNPs have a significantly larger effect for one disease phenotype compared to the other phenotypes, to highlight possible disease specific effects.\n\nThis study identifies 141 loci, of which 41 are novel to this study, to be associated (P[≤]3x10-8) with asthma, hay fever or eczema, analysed separately or combined as a single phenotype. At four of the novel loci, TNFRSF8, MYRF, TSPAN8, and BHMG1, the lead SNPs were in LD (> 0.8) with potentially casual missense variants. For seven of the novel GWAS loci, the lead SNP was in LD (> 0.8) with genetic variants associated with gene expression (eQTL) where, for example, increased levels of TMEM258 as well as decreased levels of HHEX and ADAM19 was associated with decreased odds for asthma.\n\nOur study shows that a large amount of the genetic contribution to asthma, hay fever and eczema is shared between the diseases. Nonetheless, a number of SNPs have a significantly larger effect on one of the phenotypes suggesting that part of the genetic contribution is more phenotype specific.

genetics↗

Breastfeeding And Risk Of Asthma, Hay Fever And Eczema

BackgroundBreastfeeding is commonly proposed to protect against atopic diseases. However, studies aiming to quantify these protective effects have shown conflicting results.\n\nMethodsTo entrench the effects of breastfeeding on risk of asthma, hay fever and eczema, our study included a large study cohort, UK Biobank (N=502,682). Information was collected on whether participants had been breastfeed and on the prevalence of disease. Disease was tested for association with breastfeeding, adjusting or matching for influential covariates.\n\nFindingsA total of 443,068 participants were included in our analyses of which 71{middle dot}2% had been breastfed. The prevalence of asthma was 11{middle dot}4 % and 12{middle dot}7% in the breastfed and non-breastfed groups, and hay fever or eczema (23{middle dot}9% and 24{middle dot}8 % in the two groups respectively. When correcting or matching for potential confounders, we could not see any association between being breastfed and asthma. However, there were increased odds of hay fever and eczema among participants that had been breastfed (P=7{middle dot}78x10-6).\n\nInterpretationThis study reports that breastfeeding is associated with increased odds of hay fever and eczema but it show no evidence for breastfeeding being associated with asthma diagnosis.\n\nFundingThe Swedish Society for Medical Research (SSMF), the Kjell and Marta Beijers Foundation, Goran Gustafssons Foundation, the Swedish Medical Research Council (Project Number 2015-03327), the Marcus Borgstrom Foundation, the [A]ke Wiberg Foundation and the Vleugels Foundation.\n\nEvidence before this studyAtopic diseases affect quality of life for a large part of the human population and pose a very high socio-economic burden. Genetic, environmental, and a number of lifestyle factors influence our risk of developing atopic disorders and high familial prevalence is one of the strongest known risk factors for disease. Several environmental and lifestyle risk factors have already been well established in the scientific community, such as smoking on the risk of developing asthma. Breastfeeding is commonly argued to be protective against atopic diseases. However, studies aiming to quantify these protective effects have shown conflicting results.\n\nAdded value of this studyOur study is, to our knowledge, the largest investigation on how breastfeeding is associated with being diagnosed with asthma, hay fever and eczema at adult age. The study found breastfeeding to be associated with increased odds of being diagnosed with hay fever and eczema during life, while we found no association between breastfeeding and asthma. Our results for hay fever and eczema is in line with the western world hygiene hypothesis, but contradict the general picture of breastfeeding being protective.\n\nImplications of all the available evidenceTo be able to give parents correct advice on lifestyles choices that will protect their kids against atopic diseases, we need to clarify the currently conflicting results on the effect of breastfeeding on risk of atopic diseases. However, these results should not be used to recommend breastfeeding or to discourage it since the present study only investigates the association between breastfeeding history and being diagnosed with asthma, hay fever and eczema during lifetime.\n\nAbbreviations

epidemiology↗