Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation inSGCE

2012 ◽  
Vol 84 (3) ◽  
pp. 276-280 ◽  
Author(s):  
J Xiao ◽  
MA Nance ◽  
MS LeDoux
Keyword(s):  
Deletion Mutation ◽  
Nonsense Mediated Decay ◽  
Exonic Deletion

scholarly journals Substrate Spectrum Extension of PenA in Burkholderia thailandensis with a Single Amino Acid Deletion, Glu168del

2012 ◽  
Vol 56 (7) ◽  
pp. 4005-4008 ◽  
Author(s):  
Hyojeong Yi ◽  
Karan Kim ◽  
Kwang-Hwi Cho ◽  
Oksung Jung ◽  
Heenam Stanley Kim
Keyword(s):  
Deletion Mutation ◽  
Single Amino Acid ◽  
Functional Domain ◽  
Amino Acid Deletion ◽  
Burkholderia Thailandensis ◽  
Content Type ◽  
Class A ◽  
Omega Loop ◽  
Substitution Mutations ◽  
Substrate Spectrum

ABSTRACTWe describe a deletion mutation in a class A β-lactamase, PenA, ofBurkholderia thailandensisthat extended the substrate spectrum of the enzyme to include ceftazidime. Glu168del was located in a functional domain called the omega loop causing expansion of the space in the loop, which in turn increased flexibility at the active site. This deletion mutation represents a rare but significant alternative mechanical path to substrate spectrum extension in PenA besides more common substitution mutations.

Dwarfism in Tibetan Terrier dogs with an LHX3 mutation

2021 ◽  
pp. 104063872110075
Author(s):  
Tuddow Thaiwong ◽  
Sarah Corner ◽  
Stacey La Forge ◽  
Matti Kiupel
Keyword(s):  
Hair Loss ◽  
Autosomal Recessive ◽  
Early Death ◽  
Deletion Mutation ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
German Shepherd ◽  
Hair Coat ◽  
Pituitary Dwarfism ◽  
Autosomal Recessive Manner

Canine pituitary dwarfism in German Shepherd and related dog breeds has been reported to be associated with a 7-bp deletion mutation in intron 5 of the LHX3 gene. This mutation is transmitted as an autosomal recessive trait that results in dwarf dogs with significantly smaller stature and abnormal haircoat, and potentially early death. Phenotypically, affected adult dogs are proportionally dwarfs. These dwarfs also have a soft, woolly puppy coat that fails to transition into the typical adult hair coat, and marked hair loss occurs in some dogs. We report a similar manifestation of dwarfism in Tibetan Terriers with the same LHX3 mutation. Dwarf Tibetan Terrier puppies were born physically normal but failed to gain weight or to grow at the same rate as their normal littermates. The 7-bp deletion mutation of the LHX3 gene was identified in both alleles of 3 Tibetan Terrier dwarfs from 3 litters, which were biologically related. All parents of these dogs are carriers, confirming transmission of dwarfism in an autosomal recessive manner. Recognition and detection of this mutation will help in guiding future breeding plans to eventually eliminate this trait from Tibetan Terriers.

scholarly journals The REG1 Gene Product Is Required for Repression of INO1 and Other Inositol-Sensitive Upstream Activating Sequence-Containing Genes of Yeast

Genetics ◽  
1999 ◽  
Vol 152 (1) ◽  
pp. 89-100 ◽  
Author(s):  
Qian Ouyang ◽  
Monica Ruiz-Noriega ◽  
Susan A Henry
Keyword(s):  
Regulatory Protein ◽  
Deletion Mutation ◽  
Negative Regulator ◽  
Regulatory Subunit ◽  
Bhlh Protein ◽  
Gene Products ◽  
Glucose Response ◽  
Upstream Activating Sequence ◽  
Missense Mutant ◽  
Single Base Pair

Abstract A search was conducted for suppressors of the inositol auxotrophic phenotype of the ino4-8 mutant of yeast. The ino4-8 mutation is a single base pair change that results in substitution of lysine for glutamic acid at position 79 in the bHLH domain of the yeast regulatory protein, Ino4p. Ino4p dimerizes with a second bHLH protein, Ino2p, to form a complex that binds to the promoter of the INO1 gene, activating transcription. Of 31 recessive suppressors of ino4-8 isolated, 29 proved to be alleles of a single locus, identified as REG1, which encodes a regulatory subunit of a protein phosphatase involved in the glucose response pathway. The suppressor mutation, sia1-1, identified as an allele of REG1, caused constitutive INO1 expression and was capable of suppressing the inositol auxotrophy of a second ino4 missense mutant, ino4-26, as well as ino2-419, a missense mutation of INO2. The suppressors analyzed were unable to suppress ino2 and ino4 null mutations, but the reg1 deletion mutation could suppress ino4-8. A deletion mutation in the OPI1 negative regulator was incapable of suppressing ino4-8. The relative roles of the OPI1 and REG1 gene products in control of INO1 expression are discussed.

scholarly journals Escherichia coli dnaJ deletion mutation results in loss of stability of a positive regulator, CRP.

1992 ◽  
Vol 267 (19) ◽  
pp. 13180-13184
Author(s):  
R Ohki ◽  
T Kawamata ◽  
Y Katoh ◽  
F Hosoda ◽  
M Ohki
Keyword(s):  
Escherichia Coli ◽  
Deletion Mutation ◽  
Loss Of Stability ◽  
Positive Regulator

scholarly journals Targeting Poison Exons to Treat Developmental and Epileptic Encephalopathy

2021 ◽  
pp. 1-6
Author(s):  
Miriam C. Aziz ◽  
Patricia N. Schneider ◽  
Gemma L. Carvill
Keyword(s):  
Alternative Splicing ◽  
Rna Binding ◽  
De Novo ◽  
Rna Binding Proteins ◽  
Autism Spectrum ◽  
Epileptic Encephalopathy ◽  
Nonsense Mediated Decay ◽  
Subsequent Degradation ◽  
Alternative Splicing Events ◽  
Genetic Epilepsies

Developmental and epileptic encephalopathies (DEEs) describe a subset of neurodevelopmental disorders categorized by refractory epilepsy that is often associated with intellectual disability and autism spectrum disorder. The majority of DEEs are now known to have a genetic basis with de novo coding variants accounting for the majority of cases. More recently, a small number of individuals have been identified with intronic <i>SCN1A</i> variants that result in alternative splicing events that lead to ectopic inclusion of poison exons (PEs). PEs are short highly conserved exons that contain a premature truncation codon, and when spliced into the transcript, lead to premature truncation and subsequent degradation by nonsense-mediated decay. The reason for the inclusion/exclusion of these PEs is not entirely clear, but research suggests an autoregulatory role in gene expression and protein abundance. This is seen in proteins such as RNA-binding proteins and serine/arginine-rich proteins. Recent studies have focused on targeting these PEs as a method for therapeutic intervention. Targeting PEs using antisense oligonucleotides (ASOs) has shown to be effective in modulating alternative splicing events by decreasing the amount of transcripts harboring PEs, thus increasing the abundance of full-length transcripts and thereby the amount of protein in haploinsufficient genes implicated in DEE. In the age of personalized medicine, cellular and animal models of the genetic epilepsies have become essential in developing and testing novel precision therapeutics, including PE-targeting ASOs in a subset of DEEs.

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