scholarly journals Recurrent de novo single point mutation on the gene encoding Na+/K+ pump results in epilepsy

2021 ◽  
Author(s):  
Hong-Ming Li ◽  
Wen-Bao Hu ◽  
Chun-Gu Hong ◽  
Ran Duan ◽  
Meng-Lu Chen ◽  
...  
Keyword(s):  
Mouse Model ◽  
Point Mutation ◽  
De Novo ◽  
Memory Function ◽  
Single Point ◽  
Idiopathic Epilepsy ◽  
Single Point Mutation ◽  
Gene Encoding ◽  
Binding Function ◽  
Potassium Binding

AbstractThe etiology of epilepsy remains undefined in two-thirds of patients. Here, we identified a de novo mutation of ATP1A2 (c.2426 T>G, p.Leu809Arg), which encodes the α2 subunit of Na+/K+-ATPase, from a family with idiopathic epilepsy. This mutation caused seizures in the study patients. We generated the point mutation mouse model Atp1a2L809R, which recapitulated the epilepsy observed in the study patients. In Atp1a2L809R/WT mice, convulsions were observed and cognitive and memory function was impaired. This mutation affected the potassium binding function of the protein, disabling its ion transport ability, thereby increasing the frequency of nerve impulses. Our work revealed that ATP1A2L809R mutations cause a predisposition to epilepsy. Moreover, we first provide a point mutation mouse model for epilepsy research and drug screening.

Single point mutation on the gene encoding dysbindin results in recognition deficits

2018 ◽  
Vol 17 (5) ◽  
pp. e12449 ◽  
Author(s):  
E. H. Chang ◽  
K. Fernando ◽  
L. W. E. Yeung ◽  
K. Barbari ◽  
T.-S. S. Chandon ◽  
...  
Keyword(s):  
Point Mutation ◽  
Single Point ◽  
Single Point Mutation ◽  
Gene Encoding

scholarly journals A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome.

2013 ◽  
Vol 288 (1) ◽  
pp. 294-294
Author(s):  
Anna Suchanowska ◽  
Radoslaw Kaczmarek ◽  
Maria Duk ◽  
Jolanta Lukasiewicz ◽  
Dorota Smolarek ◽  
...  
Keyword(s):  
Point Mutation ◽  
Single Point ◽  
Single Point Mutation ◽  
Gene Encoding

scholarly journals Evidence of single point mutation inducing BLAD disease in Romanian Holstein-derived cattle breed

2007 ◽  
Vol 23 (5-6-1) ◽  
pp. 375-381 ◽  
Author(s):  
R.A. Vătăşescu-Balcan ◽  
M.A. Manea ◽  
S.E. Georgescu ◽  
A. Dinischiotu ◽  
C.D. Tesio ◽  
...  
Keyword(s):  
Point Mutation ◽  
Genetic Disease ◽  
Leukocyte Adhesion ◽  
Single Point ◽  
Cattle Breed ◽  
Single Point Mutation ◽  
Sequencing Analysis ◽  
Gene Encoding ◽  
Dna Test ◽  
Recessive Defect

Bovine leukocyte adhesion deficiency (BLAD) is a genetic disease that affects the haematopoietic system via greatly reduced expression of the heterodimeric ?2 integrin, causing many defects in leukocyte function. It is known that BLAD is an autosomal recessive defect, caused by a point mutation in the gene encoding subunit CD18 for ?2 integrin adhesion molecule, which is lethal in the homozygous form. In this study, 80 cattle of the Romanian Black Spotted breed have been screened via the DNA test. We performed the PCR-RFLP test followed by sequencing to investigate the incidence of this genetic disease. A single point mutation was identified within the gene encoding bovine CD18 in two Romanian Black Spotted cattle affected with BLAD. The aim of our work was to optimize PCR (Polymerase Chain Reaction), RFLP (Restriction Fragment Length Polymorphism) and sequencing analysis as a diagnostic test to identify BLAD carrier cattle.

scholarly journals A Single Point Mutation in the Gene Encoding Gb3/CD77 Synthase Causes a Rare Inherited Polyagglutination Syndrome

2012 ◽  
Vol 287 (45) ◽  
pp. 38220-38230 ◽  
Author(s):  
Anna Suchanowska ◽  
Radoslaw Kaczmarek ◽  
Maria Duk ◽  
Jolanta Lukasiewicz ◽  
Dorota Smolarek ◽  
...  
Keyword(s):  
Point Mutation ◽  
Single Point ◽  
Single Point Mutation ◽  
Gene Encoding

scholarly journals A Single Point Mutation, Asn16→Lys, Dictates the Temperature-Sensitivity of the Reovirus tsG453 Mutant

Viruses ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 289
Author(s):  
Kathleen K. M. Glover ◽  
Danica M. Sutherland ◽  
Terence S. Dermody ◽  
Kevin M. Coombs
Keyword(s):  
Amino Acid ◽  
Temperature Sensitivity ◽  
Reverse Genetics ◽  
Core Protein ◽  
Single Point ◽  
Single Amino Acid ◽  
Single Point Mutation ◽  
Temperature Sensitive ◽  
Amino Acid Substitutions ◽  
Gene Encoding

Studies of conditionally lethal mutants can help delineate the structure-function relationships of biomolecules. Temperature-sensitive (ts) mammalian reovirus (MRV) mutants were isolated and characterized many years ago. Two of the most well-defined MRV ts mutants are tsC447, which contains mutations in the S2 gene encoding viral core protein σ2, and tsG453, which contains mutations in the S4 gene encoding major outer-capsid protein σ3. Because many MRV ts mutants, including both tsC447 and tsG453, encode multiple amino acid substitutions, the specific amino acid substitutions responsible for the ts phenotype are unknown. We used reverse genetics to recover recombinant reoviruses containing the single amino acid polymorphisms present in ts mutants tsC447 and tsG453 and assessed the recombinant viruses for temperature-sensitivity by efficiency-of-plating assays. Of the three amino acid substitutions in the tsG453 S4 gene, Asn16-Lys was solely responsible for the tsG453ts phenotype. Additionally, the mutant tsC447 Ala188-Val mutation did not induce a temperature-sensitive phenotype. This study is the first to employ reverse genetics to identify the dominant amino acid substitutions responsible for the tsC447 and tsG453 mutations and relate these substitutions to respective phenotypes. Further studies of other MRV ts mutants are warranted to define the sequence polymorphisms responsible for temperature sensitivity.

scholarly journals A single point mutation converts a proton-pumping rhodopsin into a red-shifted, turn-on fluorescent sensor for chloride

2021 ◽  
Author(s):  
Jasmine N. Tutol ◽  
Jessica Lee ◽  
Hsichuan Chi ◽  
Farah N. Faizuddin ◽  
Sameera S. Abeyrathna ◽  
...  
Keyword(s):  
Point Mutation ◽  
Fluorescent Sensor ◽  
Single Point ◽  
Proton Pumping ◽  
Single Point Mutation ◽  
Turn On ◽  
Gloeobacter Violaceus

By utilizing laboratory-guided evolution, we have converted the fluorescent proton-pumping rhodopsin GR from Gloeobacter violaceus into GR1, a red-shifted, turn-on fluorescent sensor for chloride.

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