scholarly journals Tri‐Allelic Haplotypes Determine and Differentiate Functionally Normal Allele CYP2D6*2 and Impaired Allele CYP2D6*41

2020 ◽  
Author(s):  
Ulrich M. Zanger ◽  
Kyoko Momoi ◽  
Ute Hofmann ◽  
Matthias Schwab ◽  
Kathrin Klein
Keyword(s):  
Normal Allele

scholarly journals Poorly Repaired Mismatches in Heteroduplex DNA are Hyper-Recombinagenic in Saccharomyces cerevisiae

Genetics ◽  
1996 ◽  
Vol 142 (2) ◽  
pp. 407-416 ◽  
Author(s):  
P Manivasakam ◽  
Susan M Rosenberg ◽  
P J Hastings
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Mismatch Repair ◽  
Genetic Markers ◽  
Meiotic Recombination ◽  
Repair System ◽  
Normal Allele ◽  
Heteroduplex Dna ◽  
Mismatch Repair System ◽  
Postmeiotic Segregation ◽  
System Operating

Abstract In yeast meiotic recombination, alleles used as genetic markers fall into two classes as regards their fate when incorporated into heteroduplex DNA. Normal alleles are those that form heteroduplexes that are nearly always recognized and corrected by the mismatch repair system operating in meiosis. High PMS (postmeiotic segregation) alleles form heteroduplexes that are inefficiently mismatch repaired. We report that placing any of several high PMS alleles very close to normal alleles causes hyperrecombination between these markers. We propose that this hyperrecombination is caused by the high PMS allele blocking a mismatch repair tract initiated from the normal allele, thus preventing corepair of the two alleles, which would prevent formation of recombinants. The results of three point crosses involving two PMS alleles and a normal allele suggest that high PMS alleles placed between two alleles that are normally corepaired block that corepair.

Skewed X Inactivation of the Normal Allele in Fully Mutated Female Carriers Determines the Levels of FMRP in Blood and the Fragile X Phenotype

2005 ◽  
Vol 9 (3) ◽  
pp. 157-162 ◽  
Author(s):  
Raquel Martínez ◽  
Victoria Bonilla-Henao ◽  
Antonio Jiménez ◽  
Miguel Lucas ◽  
Carmen Vega ◽  
...  
Keyword(s):  
Fragile X ◽  
X Inactivation ◽  
Normal Allele ◽  
Skewed X Inactivation ◽  
Female Carriers

Rearrangement at the 5' end of amplified c-myc in human COLO 320 cells is associated with abnormal transcription

1986 ◽  
Vol 6 (7) ◽  
pp. 2752-2755
Author(s):  
M Schwab ◽  
K H Klempnauer ◽  
K Alitalo ◽  
H Varmus ◽  
M Bishop
Keyword(s):  
Nucleotide Sequence ◽  
B Cell ◽  
Break Point ◽  
Normal Allele ◽  
Sequence Analyses ◽  
Double Minutes ◽  
Exon 1

The proto-oncogene c-myc is amplified in sublines of human COLO 320 cells carrying either homogeneously staining chromosomal regions or double minutes. COLO 320 cells carrying homogeneously staining chromosomal regions have 15 to 20 copies of an apparently normal c-myc allele and 1 to 2 copies of an abnormal c-myc allele lacking exon 1 and express high levels of a normal c-myc mRNA 2.5 kilobases in size. COLO 320 cells carrying double minutes have about 25 copies each of the normal allele and the abnormal allele but express preferentially an abnormal c-myc mRNA 2.2 kilobases in size. Nucleotide sequence analyses revealed that the break point of rearrangement resulting in the loss of exon 1 in the abnormal allele lies within a region frequently rearranged in human and murine B-cell tumors.

Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle

1998 ◽  
Vol 85 (4) ◽  
pp. 1273-1278 ◽  
Author(s):  
Barbara Norman ◽  
Donna K. Mahnke-Zizelman ◽  
Amy Vallis ◽  
Richard L. Sabina
Keyword(s):  
Skeletal Muscle ◽  
Enzyme Activity ◽  
Mutant Allele ◽  
Fiber Type ◽  
Type I ◽  
Training Status ◽  
Amp Deaminase ◽  
Normal Allele ◽  
Relative Percentage ◽  
Type I Fibers

AMPD1 genotype, relative fiber type composition, training status, and gender were evaluated as contributing factors to the reported variation in AMP deaminase enzyme activity in healthy skeletal muscle. Multifactorial correlative analyses demonstrate that AMPD1 genotype has the greatest effect on enzyme activity. An AMPD1 mutant allele frequency of 13.7 and a 1.7% incidence of enzyme deficiency was found across 175 healthy subjects. Homozygotes for the AMPD1 normal allele have high enzyme activities, and heterozygotes display intermediate activities. When examined according to genotype, other factors were found to affect variability as follows: AMP deaminase activity in homozygotes for the normal allele exhibits a negative correlation with the relative percentage of type I fibers and training status. Conversely, residual AMP deaminase activity in homozygotes for the mutant allele displays a positive correlation with the relative percentage of type I fibers. Opposing correlations in different homozygous AMPD1 genotypes are likely due to relative fiber-type differences in the expression of AMPD1 and AMPD3 isoforms. Gender also contributes to variation in total skeletal muscle AMP deaminase activity, with normal homozygous and heterozygous women showing only 85–88% of the levels observed in genotype-matched men.

The tabby syndrome in the mouse

1971 ◽  
Vol 179 (1055) ◽  
pp. 139-156 ◽  
Keyword(s):  
Critical Point ◽  
X Chromosome ◽  
Neural Tube ◽  
X Chromosome Inactivation ◽  
Cellular Level ◽  
Normal Allele ◽  
Linked Gene ◽  
Intercellular Interactions ◽  
Threshold Mechanism ◽  
Otic Vesicles

The tabby syndrome in the mouse (which is common to the sex-linked gene for tabby and autosomal genes for crinkled and downless) affects the coat, the sinus hairs, the teeth, many glands and some surface features like tail rings, plicae digitales and the papilla vallata of the tongue. All these structures develop by the downgrowth of solid epithelial buds into the underlying mesenchyme. Organs which arise by invagination (like the neural tube or the otic vesicles and certain glands) are not affected by the tabby syndrome. The rudiments of glands and sinus hairs are reduced in size, and if reduction goes beyond a critical point, stunted organs are formed or, more commonly, the rudiments regress altogether. The same is true for the teeth and apparently for the whole syndrome. Measurements show the same situation in Ta ♂♂(and Ta/Ta ♀♀) and in heterozygous Ta / + ♀♀. As in Ta ♂♂ and Ta/Ta ♀♀ there cannot be any doubt that a threshold mechanism is involved, there is no reason to assume that, in Ta / + ♀♀, the identical defects are derived clonally from ancestral cells in which the Xchromosome carrying the normal allele has been inactivated. Whereas the Ta / + phenotype does not give any evidence that the Ta locus is involved in X-chromosome inactivation, the possibility cannot be ruled out that, if inactivation should actually take place on the cellular level, the macroscopic phenotype could be the result of intercellular interactions along with the effects of threshold mechanisms.

scholarly journals ID: 1048 A novel nonsense mutation in the CYP21A2 gene of a Vietnamese patient with congenital adrenal hyperplasia

2017 ◽  
Vol 4 (S) ◽  
pp. 129
Author(s):  
Vu Chi Dung ◽  
Ngoc Lan Nguyen ◽  
Huy Hoang Nguyen ◽  
Thi Kim Lien Nguyen ◽  
Thinh Huy Tran ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Nonsense Mutation ◽  
Stop Codon ◽  
Large Deletion ◽  
Heterozygous Mutation ◽  
Normal Allele ◽  
Adrenal Hyperplasia ◽  
Steroid Synthesis ◽  
Cyp21a2 Gene ◽  
Exon 1

Inactivating mutations in the CYP21A2 gene which encodes the protein involved in steroid synthesis have been reported in the patients with congenital adrenal hyperplasia (CAH). An infant who diagnosed with the severe phenotype of CAH such as increasing testicular volume, elevating of 17-hydroxyprogesteron, testosterone and progesterone and his family were subjected for genetic studies. Initially, we used PCR and direct sequencing to screen mutations in the CYP21 gene in the proband and his family. We identified a novel nonsense mutation c.374C>G predicts a substitution of serine for a stop codon at codon 125 (p.S125*) within exon 3 in the proband. However, the inheritance pattern of the mutation was not consistent with disease causation because of a heterozygous mutation carrier in father and sibling, wild-type alleles in mother but mutant alleles in proband. This inspired us to find deletions of exon using multiplex ligation-dependent probe amplification (MLPA) assay. In the profiles of MLPA electropherogram, the proband had a large deletion in exon 3, but his mother did not have. It means that the proband inherited a normal allele from his mother and a mutant allele from his father, but the deletion of a normal allele occurred in the proband. Therefore, mutation c.374C>G (p.S125*) in exon 3 in the proband is considered as a heterozygous deletion mutation. In addition, a large deletion in exon 1 in the maternal allele in the proband is observed. Taking together, the proband carried a nonsense mutation accompanied with two deletions in exon 1 and exon 3 in the CYP21A2 gene affect the CAH phenotype severity. These mutations also expand the CYP21A2 mutation spectrum in CAH disorder. This case also highlights the need of caution when interpreting results of molecular genetics and biochemical testing during genetic counseling.

scholarly journals Partial diploids of Escherichia coli carrying normal and mutant alleles affecting oxidative phosphorylation

1977 ◽  
Vol 162 (3) ◽  
pp. 665-670 ◽  
Author(s):  
F Gibson ◽  
G B Cox ◽  
J A Downie ◽  
J Radik
Keyword(s):  
Escherichia Coli ◽  
Fluorescence Quenching ◽  
Oxidative Phosphorylation ◽  
Atpase Activity ◽  
Adenosine Triphosphatase ◽  
Growth Yields ◽  
Normal Allele ◽  
Adenosine Triphosphatase Activity

A plasmid was isolated which included the region of the Escherichia coli chromosome carrying the known genes concerned with oxidative phosphorylation (unc genes). This plasmid was used to prepare partial diploids carrying normal unc alleles on the episome and one of the three mutant alleles (unc A401, uncB402 or unc-405) on the chromosome. These strains were compared with segregants from which the plasmid had been lost. Dominance of either normal ormutant unc alleles was determined by growth on succinate, growth yields on glucose, Mg-ATPase (Mg2+-stimulated adenosine triphosphatase) activity, atebrin-fluorescence quenching, ATP-dependent transhydrogenase activity and oxidative phosphorylation. In all the above tests, dominance of the normal allele was observed. However, in membranes from the diploid strains which carried a normal allele and either of the mutant alleles affecting Mg-ATPase activity (uncA401 or unc-405), the energy-linked functions were only partially restored.

scholarly journals A human gastric carcinoma contains a single mutated and an amplified normal allele of the Ki-rasoncogene

1986 ◽  
Vol 14 (3) ◽  
pp. 1209-1217 ◽  
Author(s):  
J.L. Bos ◽  
M.Verlaan-de Vries ◽  
C.J. Marshall ◽  
G.H. Veeneman ◽  
J.H. van Boom ◽  
...  
Keyword(s):  
Gastric Carcinoma ◽  
Normal Allele ◽  
Human Gastric Carcinoma

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

1993 ◽  
Vol 2 (8) ◽  
pp. 1263-1266 ◽  
Author(s):  
Hélène Hofmann-Radvanyi ◽  
Christian Lavedan ◽  
Jean-Pierre Rabès ◽  
Daniel Savoy ◽  
Chantal Duros ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Normal Allele ◽  
Low Expression
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