scholarly journals Diverse types of genetic variation converge on functional gene networks involved in schizophrenia

2012 ◽  
Vol 15 (12) ◽  
pp. 1723-1728 ◽  
Author(s):  
Sarah R Gilman ◽  
Jonathan Chang ◽  
Bin Xu ◽  
Tejdeep S Bawa ◽  
Joseph A Gogos ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Gene Networks ◽  
Functional Gene

scholarly journals Functional gene networks reveal distinct mechanisms segregating in migraine families

Brain ◽  
2020 ◽  
Vol 143 (10) ◽  
pp. 2945-2956
Author(s):  
Andreas H Rasmussen ◽  
Lisette J A Kogelman ◽  
David M Kristensen ◽  
Mona Ameri Chalmer ◽  
Jes Olesen ◽  
...  
Keyword(s):  
Rna Sequencing ◽  
Gene Networks ◽  
Serotonin Receptor ◽  
Functional Gene ◽  
Signalling Pathways ◽  
Gene Module ◽  
Sequencing Data ◽  
Rare Mutations ◽  
G Protein Signalling ◽  
Rare Genetic Variants

Abstract Migraine is the most common neurological disorder worldwide and it has been shown to have complex polygenic origins with a heritability of estimated 40–70%. Both common and rare genetic variants are believed to underlie the pathophysiology of the prevalent types of migraine, migraine with typical aura and migraine without aura. However, only common variants have been identified so far. Here we identify for the first time a gene module with rare mutations through a systems genetics approach integrating RNA sequencing data from brain and vascular tissues likely to be involved in migraine pathology in combination with whole genome sequencing of 117 migraine families. We found a gene module in the visual cortex, based on single nuclei RNA sequencing data, that had increased rare mutations in the migraine families and replicated this in a second independent cohort of 1930 patients. This module was mainly expressed by interneurons, pyramidal CA1, and pyramidal SS cells, and pathway analysis showed association with hormonal signalling (thyrotropin-releasing hormone receptor and oxytocin receptor signalling pathways), Alzheimer’s disease pathway, serotonin receptor pathway and general heterotrimeric G-protein signalling pathways. Our results demonstrate that rare functional gene variants are strongly implicated in the pathophysiology of migraine. Furthermore, we anticipate that the results can be used to explain the critical mechanisms behind migraine and potentially improving the treatment regime for migraine patients.

scholarly journals Genetic Variation at the O-Antigen Biosynthetic Locus in Pseudomonas aeruginosa

2002 ◽  
Vol 184 (13) ◽  
pp. 3614-3622 ◽  
Author(s):  
Christopher K. Raymond ◽  
Elizabeth H. Sims ◽  
Arnold Kas ◽  
David H. Spencer ◽  
Tanya V. Kutyavin ◽  
...  
Keyword(s):  
Pseudomonas Aeruginosa ◽  
Genetic Variation ◽  
Dna Sequencing ◽  
Genetic Locus ◽  
Gene Clusters ◽  
Genomic Region ◽  
Functional Gene ◽  
Specific Site ◽  
O Antigen ◽  
Divergent Gene

ABSTRACT The outer carbohydrate layer, or O antigen, of Pseudomonas aeruginosa varies markedly in different isolates of these bacteria, and at least 20 distinct O-antigen serotypes have been described. Previous studies have indicated that the major enzymes responsible for O-antigen synthesis are encoded in a cluster of genes that occupy a common genetic locus. We used targeted yeast recombinational cloning to isolate this locus from the 20 internationally recognized serotype strains. DNA sequencing of these isolated segments revealed that at least 11 highly divergent gene clusters occupy this region. Homology searches of the encoded protein products indicated that these gene clusters are likely to direct O-antigen biosynthesis. The O15 serotype strains lack functional gene clusters in the region analyzed, suggesting that O-antigen biosynthesis genes for this serotype are harbored in a different portion of the genome. The overall pattern underscores the plasticity of the P. aeruginosa genome, in which a specific site in a well-conserved genomic region can be occupied by any of numerous islands of functionally related DNA with diverse sequences.

scholarly journals Multiscale Genomics to Model Functional Gene Networks Involved in Radiosensitivity

2016 ◽  
Vol 96 (2) ◽  
pp. E576
Author(s):  
G.D. Grass ◽  
J. Teer ◽  
E.A. Welsh ◽  
S.A. Eschrich ◽  
J.F. Torres-Roca
Keyword(s):  
Gene Networks ◽  
Functional Gene

scholarly journals YeastNet v3: a public database of data-specific and integrated functional gene networks forSaccharomyces cerevisiae

2013 ◽  
Vol 42 (D1) ◽  
pp. D731-D736 ◽  
Author(s):  
Hanhae Kim ◽  
Junha Shin ◽  
Eiru Kim ◽  
Hyojin Kim ◽  
Sohyun Hwang ◽  
...  
Keyword(s):  
Gene Networks ◽  
Functional Gene ◽  
Public Database
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