scholarly journals Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms

Cell ◽  
2019 ◽  
Vol 179 (3) ◽  
pp. 750-771.e22 ◽  
Author(s):  
Rebecca L. Walker ◽  
Gokul Ramaswami ◽  
Christopher Hartl ◽  
Nicholas Mancuso ◽  
Michael J. Gandal ◽  
...  
Keyword(s):  
Human Brain ◽  
Genetic Control ◽  
Disease Mechanisms ◽  
Control Of Expression

scholarly journals Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms

Cell ◽  
2020 ◽  
Vol 181 (3) ◽  
pp. 745 ◽  
Author(s):  
Rebecca L. Walker ◽  
Gokul Ramaswami ◽  
Christopher Hartl ◽  
Nicholas Mancuso ◽  
Michael J. Gandal ◽  
...  
Keyword(s):  
Human Brain ◽  
Genetic Control ◽  
Disease Mechanisms ◽  
Control Of Expression

scholarly journals Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms

Cell ◽  
2020 ◽  
Vol 181 (2) ◽  
pp. 484
Author(s):  
Rebecca L. Walker ◽  
Gokul Ramaswami ◽  
Christopher Hartl ◽  
Nicholas Mancuso ◽  
Michael J. Gandal ◽  
...  
Keyword(s):  
Human Brain ◽  
Genetic Control ◽  
Disease Mechanisms ◽  
Control Of Expression

Towards a Pathway Inventory of the Human Brain for Modeling Disease Mechanisms Underlying Neurodegeneration

2016 ◽  
Vol 52 (4) ◽  
pp. 1343-1360 ◽  
Author(s):  
Anandhi Iyappan ◽  
Michaela Gündel ◽  
Mohammad Shahid ◽  
Jiali Wang ◽  
Hui Li ◽  
...  
Keyword(s):  
Human Brain ◽  
Disease Mechanisms

scholarly journals Genetic Control of Individual Differences in Gene-Specific Methylation in Human Brain

2010 ◽  
Vol 86 (3) ◽  
pp. 411-419 ◽  
Author(s):  
Dandan Zhang ◽  
Lijun Cheng ◽  
Judith A. Badner ◽  
Chao Chen ◽  
Qi Chen ◽  
...  
Keyword(s):  
Individual Differences ◽  
Human Brain ◽  
Genetic Control

scholarly journals Genetic control of gene expression and splicing in the developing human brain

2018 ◽  
Author(s):  
Rebecca L. Walker ◽  
Gokul Ramaswami ◽  
Christopher Hartl ◽  
Nicholas Mancuso ◽  
Michael J. Gandal ◽  
...  
Keyword(s):  
Gene Expression ◽  
Human Brain ◽  
Brain Development ◽  
Genetic Control ◽  
Allelic Variation ◽  
Fetal Brain ◽  
The Body ◽  
List Type ◽  
Control Of Gene Expression ◽  
Neuropsychiatric Diseases

SummaryMost genetic risk for human diseases lies within non-coding regions of the genome, which is predicted to regulate gene expression, often in a tissue and stage specific manner. This has motivated building of extensive eQTL resources to understand how human allelic variation affects gene expression and splicing throughout the body, focusing primarily on adult tissue. Given the importance of regulatory pathways during brain development, we characterize the genetic control of the developing human cerebral cortical transcriptome, including expression and splicing, in 201 mid-gestational human brains, to understand how common allelic variation affects gene regulation during development. We leverage expression and splice quantitative trait loci to identify genes and isoforms relevant to neuropsychiatric disorders and brain volume. These findings demonstrate genetic mechanisms by which early developmental events have a striking and widespread influence on adult anatomical and behavioral phenotypes, as well as the evolution of the human cerebral cortex.HighlightsGenome wide map of human fetal brain eQTLs and sQTLs provides a new view of genetic control of expression and splicing.There is substantial contrast between genetic control of transcript regulation in mature versus developing brain.We identify novel regulatory regions specific to fetal brain development.Integration of eQTLs and GWAS reveals specific relationships between expression and disease risk for neuropsychiatric diseases and relevant human brain phenotypes.

scholarly journals Shared genetic control of expression and methylation in peripheral blood

BMC Genomics ◽  
2016 ◽  
Vol 17 (1) ◽  
Author(s):  
Konstantin Shakhbazov ◽  
Joseph E. Powell ◽  
Gibran Hemani ◽  
Anjali K. Henders ◽  
Nicholas G. Martin ◽  
...  
Keyword(s):  
Genetic Control ◽  
Peripheral Blood ◽  
Control Of Expression ◽  
Shared Genetic

scholarly journals Genetic Control of Human Brain Transcript Expression in Alzheimer Disease

2009 ◽  
Vol 84 (4) ◽  
pp. 445-458 ◽  
Author(s):  
Jennifer A. Webster ◽  
J. Raphael Gibbs ◽  
Jennifer Clarke ◽  
Monika Ray ◽  
Weixiong Zhang ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Human Brain ◽  
Genetic Control ◽  
Transcript Expression

scholarly journals Genetic control of the human brain proteome

2019 ◽  
Author(s):  
Chloe Robins ◽  
Aliza P. Wingo ◽  
Wen Fan ◽  
Duc M. Duong ◽  
Jacob Meigs ◽  
...  
Keyword(s):  
Human Brain ◽  
Genetic Control ◽  
Quantitative Trait ◽  
Large Scale ◽  
Meta Analysis ◽  
Protein Abundance ◽  
Single Nucleotide Variants ◽  
Healthy Human ◽  
Normal Individuals ◽  
Trait Locus

AbstractAlteration of protein abundance and conformation are widely believed to be the hallmark of neurodegenerative diseases. Yet relatively little is known about the genetic variation that controls protein abundance in the healthy human brain. The genetic control of protein abundance is generally thought to parallel that of RNA expression, but there is little direct evidence to support this view. Here, we performed a large-scale protein quantitative trait locus (pQTL) analysis using single nucleotide variants (SNVs) from whole-genome sequencing and tandem mass spectrometry-based proteomic quantification of 12,691 unique proteins (7,901 after quality control) from the dorsolateral prefrontal cortex (dPFC) in 144 cognitively normal individuals. We identified 28,211 pQTLs that were significantly associated with the abundance of 864 proteins. These pQTLs were compared to dPFC expression quantitative trait loci (eQTL) in cognitive normal individuals (n=169; 81 had protein data) and a meta-analysis of dPFC eQTLs (n=1,433). We found that strong pQTLs are generally only weak eQTLs, and that the majority of strong eQTLs are not detectable pQTLs. These results suggest that the genetic control of mRNA and protein abundance may be substantially distinct and suggests inference concerning protein abundance made from mRNA in human brain should be treated with caution.

Genetic control of expression of endogenous virus genes in chicken cells

Virology ◽  
1974 ◽  
Vol 58 (2) ◽  
pp. 439-448 ◽  
Author(s):  
H. Hanafusa ◽  
T. Hanafusa ◽  
S. Kawai ◽  
R.E. Luginbuhl
Keyword(s):  
Genetic Control ◽  
Endogenous Virus ◽  
Control Of Expression

scholarly journals Separation and properties of human brain hexosaminidase C

1974 ◽  
Vol 143 (2) ◽  
pp. 295-301 ◽  
Author(s):  
Isobel Braidman ◽  
Mark Carroll ◽  
Norman Dance ◽  
Donald Robinson
Keyword(s):  
Molecular Weight ◽  
Human Brain ◽  
Genetic Control ◽  
Deae Cellulose ◽  
High Salt ◽  
Heat Inactivation ◽  
Optimum Activity

Hexosaminidase C was separated from human brain supernatant by immunoadsorption of the A and B forms on to a column of immobilized antibody followed by preparative starch-block electrophoresis. There were some differences in the properties of hexosaminidase C preparations after each of these stages, shown by comparison of their heat-inactivation characteristics and filtration through Bio-Gel P-200. The C form prepared by both separation steps had properties which differed markedly from those of the A and B isoenzymes; its molecular weight was much larger, greater than 200000, it had optimum activity between pH6 and 7 and could not be successfully eluted from DEAE-cellulose, even with high salt concentrations, or from Sephadex G-200. These results seem to support the proposal that the C form is under a separate genetic control from the others.

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