scholarly journals Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes

2002 ◽  
Vol 71 (2) ◽  
pp. 223-237 ◽  
Author(s):  
Iris Schrijver ◽  
Wanguo Liu ◽  
Raanan Odom ◽  
Thomas Brenn ◽  
Peter Oefner ◽  
...  
Keyword(s):  
Premature Termination ◽  
Allelic Expression ◽  
Differential Allelic Expression ◽  
Clinical Phenotypes

Differential Allelic Expression of HTR1B in Suicide Victims: Genetic and Epigenetic Effect of the Cis-Acting Variants

2016 ◽  
Vol 74 (3) ◽  
pp. 144-149 ◽  
Author(s):  
Ali Bani-Fatemi ◽  
Aaron Howe ◽  
Clement Zai ◽  
James L. Kennedy ◽  
John Vincent ◽  
...  
Keyword(s):  
Allelic Expression ◽  
Differential Allelic Expression ◽  
Epigenetic Effect

scholarly journals Multiple isoforms and differential allelic expression of CHRNA5 in lung tissue and lung adenocarcinoma

2013 ◽  
Vol 34 (6) ◽  
pp. 1281-1285 ◽  
Author(s):  
Felicia S. Falvella ◽  
Tiziana Alberio ◽  
Sara Noci ◽  
Luigi Santambrogio ◽  
Mario Nosotti ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Lung Tissue ◽  
Allelic Expression ◽  
Differential Allelic Expression

scholarly journals A Novel and Rapid Method of Determining the Effect of Unclassified MLH1 Genetic Variants on Differential Allelic Expression

2010 ◽  
Vol 12 (6) ◽  
pp. 757-764 ◽  
Author(s):  
Sheron Perera ◽  
Brian Li ◽  
Soultana Tsitsikotas ◽  
Lily Ramyar ◽  
Aaron Pollett ◽  
...  
Keyword(s):  
Rapid Method ◽  
Genetic Variants ◽  
Allelic Expression ◽  
Differential Allelic Expression

scholarly journals Differential and limited expression of mutant alleles in multiple myeloma

Blood ◽  
2014 ◽  
Vol 124 (20) ◽  
pp. 3110-3117 ◽  
Author(s):  
Naim U. Rashid ◽  
Adam S. Sperling ◽  
Niccolo Bolli ◽  
David C. Wedge ◽  
Peter Van Loo ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Allelic Expression ◽  
Myeloma Patient ◽  
Multiple Myeloma Patient ◽  
Differential Allelic Expression ◽  
Key Points

Key Points The majority of mutations are found in genes that have low or no detectable biological expression. Mutated genes often show differential allelic expression in multiple myeloma patient samples.

Differential allelic expression of PrP mRNA in carriers of the E200K mutation

Neurology ◽  
1997 ◽  
Vol 49 (3) ◽  
pp. 851-856 ◽  
Author(s):  
H. Rosenmann ◽  
M. Halimi ◽  
I. Kahana ◽  
I. Biran ◽  
R. Gabizon
Keyword(s):  
Allelic Expression ◽  
Differential Allelic Expression ◽  
E200k Mutation

scholarly journals Dyslexia risk variant rs600753 is linked with dyslexia-specific differential allelic expression of DYX1C1

2018 ◽  
Vol 41 (1) ◽  
pp. 41-49
Author(s):  
Bent Müller ◽  
Johannes Boltze ◽  
Ivonne Czepezauer ◽  
Volker Hesse ◽  
Arndt Wilcke ◽  
...  
Keyword(s):  
Allelic Expression ◽  
Risk Variant ◽  
Differential Allelic Expression

scholarly journals Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression

Biology ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 256
Author(s):  
Hiroki Ura ◽  
Sumihito Togi ◽  
Yo Niida
Keyword(s):  
Phase Analysis ◽  
Genomic Dna ◽  
Allelic Expression ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Cdna Sequencing ◽  
Causative Gene ◽  
Differential Allelic Expression ◽  
In Trans ◽  
Compound Heterozygous Mutations

There are two combinations of heterozygous mutation, i.e., in trans, which carries mutations on different alleles, and in cis, which carries mutations on the same allele. Because only in trans compound heterozygous mutations have been implicated in autosomal recessive diseases, it is important to distinguish them for clinical diagnosis. However, conventional phase analysis is limited because of the large target size of genomic DNA. Here, we performed a genetic analysis on a patient with Wilson disease, and we detected two heterozygous mutations chr13:51958362;G>GG (NM_000053.4:c.2304dup r.2304dup p.Met769HisfsTer26) and chr13:51964900;C>T (NM_000053.4:c.1841G>A r.1841g>a p.Gly614Asp) in the causative gene ATP7B. The distance between the two mutations was 6.5 kb in genomic DNA but 464 bp in mRNA. Targeted double-stranded cDNA sequencing-based phase analysis was performed using direct adapter ligation library preparation and paired-end sequencing, and we elucidated they are in trans compound heterozygous mutations. Trio analysis showed that the mutation (chr13:51964900;C>T) derived from the father and the other mutation from the mother, validating that the mutations are in trans composition. Furthermore, targeted double-stranded cDNA sequencing-based phase analysis detected the differential allelic expression, suggesting that the mutation (chr13:51958362;G>GG) caused downregulation of expression by nonsense-mediated mRNA decay. Our results indicate that targeted double-stranded cDNA sequencing-based phase analysis is useful for determining compound heterozygous mutations and confers information on allelic expression.

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