scholarly journals Allele-specific methylation of imprinted genes in fetal cord blood is influenced by cis-acting genetic variants and parental factors

Epigenomics ◽  
2018 ◽  
Vol 10 (10) ◽  
pp. 1315-1326 ◽  
Author(s):  
Ramya Potabattula ◽  
Marcus Dittrich ◽  
Julia Böck ◽  
Larissa Haertle ◽  
Tobias Müller ◽  
...  
PLoS ONE ◽  
2014 ◽  
Vol 9 (6) ◽  
pp. e98464 ◽  
Author(s):  
John N. Hutchinson ◽  
Towfique Raj ◽  
Jes Fagerness ◽  
Eli Stahl ◽  
Fernando T. Viloria ◽  
...  

1993 ◽  
Vol 12 (9) ◽  
pp. 3669-3677 ◽  
Author(s):  
M. Brandeis ◽  
T. Kafri ◽  
M. Ariel ◽  
J.R. Chaillet ◽  
J. McCarrey ◽  
...  

2018 ◽  
Author(s):  
Jian Shi ◽  
Xinwen Wang ◽  
Huaijun Zhu ◽  
Hui Jiang ◽  
Danxin Wang ◽  
...  

AbstractMeasuring allele-specific expression (ASE) is a powerful approach for identifying cis-regulatory genetic variants. Here we developed a novel targeted proteomics method for quantification of allele-specific protein expression (ASPE) based on scheduled high resolution multiple reaction monitoring (sMRM-HR) with a heavy stable isotope-labeled quantitative concatamer (QconCAT) internal protein standard. This strategy was applied to the determination of the ASPE of UGT2B15 in human livers using the common UGT2B15 nonsynonymous variant rs1902023 (i.e. Y85D) as the marker to differentiate expressions from the two alleles. The QconCAT standard contains both the wild type tryptic peptide and the Y85D mutant peptide at a ratio of 1:1 to ensure accurate measurement of the ASPE of UGT2B15. The results from 18 UGT2B15 Y85D heterozygotes revealed that the ratios between wild type Y allele and mutant D allele varied from 0.60 to 1.46, indicating the presence of cis-regulatory variants. In addition, we observed no significant correlations between the ASPE and mRNA ASE of UGT2B15, suggesting the involvement of different cis-acting variants in regulating the transcription and translation processes of the gene. This novel ASPE approach provides a powerful tool for capturing cis-genetic variants involved in post-transcription processes, an important yet understudied area of research.


PLoS ONE ◽  
2008 ◽  
Vol 3 (12) ◽  
pp. e4105 ◽  
Author(s):  
Susana Campino ◽  
Julian Forton ◽  
Srilakshmi Raj ◽  
Bert Mohr ◽  
Sarah Auburn ◽  
...  

2020 ◽  
Vol 12 (8) ◽  
pp. 1471-1481
Author(s):  
Hollie Marshall ◽  
Alun R C Jones ◽  
Zoë N Lonsdale ◽  
Eamonn B Mallon

Abstract Allele-specific expression is when one allele of a gene shows higher levels of expression compared with the other allele, in a diploid organism. Recent work has identified allele-specific expression in a number of Hymenopteran species. However, the molecular mechanism which drives this allelic expression bias remains unknown. In mammals, DNA methylation is often associated with genes which show allele-specific expression. DNA methylation systems have been described in species of Hymenoptera, providing a candidate mechanism. Using previously generated RNA-Seq and whole-genome bisulfite sequencing from reproductive and sterile bumblebee (Bombus terrestris) workers, we have identified genome-wide allele-specific expression and allele-specific DNA methylation. The majority of genes displaying allele-specific expression are common between reproductive and sterile workers and the proportion of allele-specific expression bias generally varies between genetically distinct colonies. We have also identified genome-wide allele-specific DNA methylation patterns in both reproductive and sterile workers, with reproductive workers showing significantly more genes with allele-specific methylation. Finally, there is no significant overlap between genes showing allele-specific expression and allele-specific methylation. These results indicate that cis-acting DNA methylation does not directly drive genome-wide allele-specific expression in this species.


Author(s):  
Julia Markowski ◽  
Rieke Kempfer ◽  
Alexander Kukalev ◽  
Ibai Irastorza-Azcarate ◽  
Gesa Loof ◽  
...  

Abstract Motivation Genome Architecture Mapping (GAM) was recently introduced as a digestion- and ligation-free method to detect chromatin conformation. Orthogonal to existing approaches based on chromatin conformation capture (3C), GAM’s ability to capture both inter- and intra-chromosomal contacts from low amounts of input data makes it particularly well suited for allele-specific analyses in a clinical setting. Allele-specific analyses are powerful tools to investigate the effects of genetic variants on many cellular phenotypes including chromatin conformation, but require the haplotypes of the individuals under study to be known a-priori. So far however, no algorithm exists for haplotype reconstruction and phasing of genetic variants from GAM data, hindering the allele-specific analysis of chromatin contact points in non-model organisms or individuals with unknown haplotypes. Results We present GAMIBHEAR, a tool for accurate haplotype reconstruction from GAM data. GAMIBHEAR aggregates allelic co-observation frequencies from GAM data and employs a GAM-specific probabilistic model of haplotype capture to optimise phasing accuracy. Using a hybrid mouse embryonic stem cell line with known haplotype structure as a benchmark dataset, we assess correctness and completeness of the reconstructed haplotypes, and demonstrate the power of GAMIBHEAR to infer accurate genome-wide haplotypes from GAM data. Availability GAMIBHEAR is available as an R package under the open source GPL-2 license at https://bitbucket.org/schwarzlab/gamibhear Maintainer [email protected] Supplementary information Supplementary information is available at Bioinformatics online.


BMC Genetics ◽  
2010 ◽  
Vol 11 (1) ◽  
pp. 25 ◽  
Author(s):  
Caroline Daelemans ◽  
Matthew E Ritchie ◽  
Guillaume Smits ◽  
Sayeda Abu-Amero ◽  
Ian M Sudbery ◽  
...  

2018 ◽  
Author(s):  
Emad Bahrami-Samani ◽  
Yi Xing

AbstractGene expression is tightly regulated at the post-transcriptional level through splicing, transport, translation, and decay. RNA-binding proteins (RBPs) play key roles in post-transcriptional gene regulation, and genetic variants that alter RBP-RNA interactions can affect gene products and functions. We developed a computational method ASPRIN (Allele-Specific Protein-RNA Interaction), that uses a joint analysis of CLIP-seq (cross-linking and immunoprecipitation followed by high-throughput sequencing) and RNA-seq data to identify genetic variants that alter RBP-RNA interactions by directly observing the allelic preference of RBP from CLIP-seq experiments as compared to RNA-seq. We used ASPRIN to systematically analyze CLIP-seq and RNA-seq data for 166 RBPs in two ENCODE (Encyclopedia of DNA Elements) cell lines. ASPRIN identified genetic variants that alter RBP-RNA interactions by modifying RBP binding motifs within RNA. Moreover, through an integrative ASPRIN analysis with population-scale RNA-seq data, we showed that ASPRIN can help reveal potential causal variants that affect alternative splicing via allele-specific protein-RNA interactions.


PEDIATRICS ◽  
1983 ◽  
Vol 71 (3) ◽  
pp. 461-462
Author(s):  
R. HUCH ◽  
A. HUCH ◽  
P. TUCHSCHMID ◽  
W. G. ZIJLSTRA ◽  
A. ZWART

To the Editor.— Bureau et al1 reported that the concentration of carboxyhemoglobin (HbCO) is increased more than twofold in cord blood of newborns of smoking mothers as compared to corresponding values in maternal venous blood. Data were obtained from an IL 282 (Instrumentation Laboratory, Lexington) Co-oximeter, an instrument using spectroscopic multicomponent analysis of HbO2, Hb, MetHb, and HbCO in whole blood. We are concerned that the data presented are due to an artifact of HbCO measurement as the instrument used is not suitable for the correct measurement of HbCO concentrations in fetal blood.


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