Histidine-rich Glycoprotein (HRG) Tokushima 2: Novel HRG Deficiency, Molecular and Cellular Characterization

2000 ◽  
Vol 84 (10) ◽  
pp. 675-679 ◽  
Author(s):  
Hidemasa Yoshida ◽  
Yasuhiko Kanagawa ◽  
Koichi Satoh ◽  
Sadao Wakabayashi ◽  
Toshio Matsumoto ◽  
...  
Keyword(s):  
Arteriovenous Fistula ◽  
Normal Level ◽  
Dural Arteriovenous Fistula ◽  
Nucleotide Substitution ◽  
The Other ◽  
Nucleotide Position ◽  
Single Nucleotide Substitution ◽  
Single Nucleotide ◽  
Intracellular Degradation ◽  
Expression Studies

SummaryThe proband, a 76-year-old woman, suffered from dural arteriovenous fistula. Her plasma histidine-rich glycoprotein (HRG) level was 50% of the normal level. A low level of plasma HRG was also found in her third daughter. A single nucleotide substitution of T to C was found at nucleotide position 11,438 in exon 6 of the HRG gene from the proband, converting Cys223 to Arg in the second cystatin-like domain. The same mutation was also identified in her third daughter, but not in the other four family members having normal HRG levels or in 50 unrelated healthy Japanese individuals. Expression studies in BHK cells showed that substantial intracellular degradation of the mutant occurred and only about 40% of the recombinant HRG mutant was secreted. These results indicate that congenital HRG deficiency caused by a substitution of Cys223 to Arg is hereditary in this family.

Genotypic relationships between Taenia saginata, Taenia asiatica and their hybrids

Parasitology ◽  
2013 ◽  
Vol 140 (13) ◽  
pp. 1595-1601 ◽  
Author(s):  
KANAKO YAMANE ◽  
TETSUYA YANAGIDA ◽  
TIAOYING LI ◽  
XINGWANG CHEN ◽  
PARON DEKUMYOY ◽  
...  
Keyword(s):  
Phylogenetic Analysis ◽  
Mitochondrial Dna ◽  
Dna Polymerase ◽  
Nucleotide Substitution ◽  
The Other ◽  
Taenia Saginata ◽  
Single Nucleotide Substitution ◽  
Dna Polymerase Delta ◽  
Single Nucleotide ◽  
Taenia Asiatica

SUMMARYPartial sequences of the DNA polymerase delta (pold) gene from Taenia saginata-like adult worms were sequenced. Phylogenetic analysis revealed that pold gene sequences were clearly divided into two clades, differing from each other in five to seven nucleotides. There is little doubt that T. saginata and Taenia asiatica were once separated into two distinct taxa as has been concluded in previous studies. On the other hand, most of the adult worms, which were identified as T. asiatica using mitochondrial DNA, were homozygous for an allele that originated from the allele of T. saginata via single nucleotide substitution. These results indicate that most of the adult worms, which had been called T. asiatica, are not actually ‘pure T. asiatica’ but instead originated from the hybridization of ‘pure T. saginata’ and ‘pure T. asiatica’.

scholarly journals A single nucleotide substitution in the coding region of Ogura male sterile gene, orf138, determines effectiveness of a fertility restorer gene, Rfo, in radish

2021 ◽  
Author(s):  
Hiroshi Yamagishi ◽  
Megumi Jikuya ◽  
Kanako Okushiro ◽  
Ayako Hashimoto ◽  
Asumi Fukunaga ◽  
...  
Keyword(s):  
Male Sterility ◽  
Nucleotide Substitution ◽  
Fertility Restoration ◽  
Type A ◽  
Restorer Gene ◽  
Single Nucleotide Substitution ◽  
Coding Region ◽  
Fertility Restorer ◽  
Single Nucleotide ◽  
Fertility Restorer Gene

AbstractCytoplasmic male sterility (CMS) observed in many plants leads defect in the production of functional pollen, while the expression of CMS is suppressed by a fertility restorer gene in the nuclear genome. Ogura CMS of radish is induced by a mitochondrial orf138, and a fertility restorer gene, Rfo, encodes a P-type PPR protein, ORF687, acting at the translational level. But, the exact function of ORF687 is still unclear. We found a Japanese variety showing male sterility even in the presence of Rfo. We examined the pollen fertility, Rfo expression, and orf138 mRNA in progenies of this variety. The progeny with Type H orf138 and Rfo showed male sterility when their orf138 mRNA was unprocessed within the coding region. By contrast, all progeny with Type A orf138 were fertile though orf138 mRNA remained unprocessed in the coding region, demonstrating that ORF687 functions on Type A but not on Type H. In silico analysis suggested a specific binding site of ORF687 in the coding region, not the 5′ untranslated region estimated previously, of Type A. A single nucleotide substitution in the putative binding site diminishes affinity of ORF687 in Type H and is most likely the cause of the ineffectiveness of ORF687. Furthermore, fertility restoration by RNA processing at a novel site in some progeny plants indicated a new and the third fertility restorer gene, Rfs, for orf138. This study clarified that direct ORF687 binding to the coding region of orf138 is essential for fertility restoration by Rfo.

scholarly journals Cloning of an Avian Adeno-Associated Virus (AAAV) and Generation of Recombinant AAAV Particles

2003 ◽  
Vol 77 (12) ◽  
pp. 6799-6810 ◽  
Author(s):  
Ioannis Bossis ◽  
John A. Chiorini
Keyword(s):  
Nucleotide Substitution ◽  
Amino Acid Level ◽  
The Other ◽  
Transduction Efficiency ◽  
Entire Genome ◽  
Single Nucleotide ◽  
Adeno Associated Virus ◽  
Reading Frame ◽  
Palindromic Structure ◽  
The Relationship

ABSTRACT Recent studies have proposed that adeno-associated viruses (AAVs) are not evolutionarily linked to other mammalian autonomous parvoviruses but are more closely linked to the autonomous parvoviruses of birds. To better understand the relationship between primate and avian AAVs (AAAVs), we cloned and sequenced the genome of an AAAV (ATCC VR-865) and generated recombinant AAAV particles. The genome of AAAV is 4,694 nucleotides in length and has organization similar to that of other AAVs. The entire genome of AAAV displays 56 to 65% identity at the nucleotide level with the other known AAVs. The AAAV genome has inverted terminal repeats of 142 nucleotides, with the first 122 forming the characteristic T-shaped palindromic structure. The putative Rep-binding element consists of a tandem (GAGY)4 repeat, and the putative terminal resolution site (trs), CCGGT/CG, contains a single nucleotide substitution relative to the AAV2 trs. The Rep open reading frame of AAAV displays 50 to 54% identity at the amino acid level with the other AAVs, with most of the diversity clustered at the carboxyl and amino termini. Comparison of the capsid proteins of AAAV and the primate dependoviruses indicate that divergent regions are localized to surface-exposed loops. Despite these sequence differences, we were able to produce recombinant AAAV particles carrying a lacZ reporter gene by cotransfection in 293T cells and were able to examine transduction efficiency in both chicken primary cells and several cell lines. Our findings indicate that AAAV is the most divergent AAV described to date but maintains all the characteristics unique to the genera of dependovirus.

A novel single‐nucleotide substitution in the proximal ABO promoter gives rise to the B 3 phenotype

Transfusion ◽  
2019 ◽  
Vol 59 (10) ◽  
Author(s):  
åsa Hellberg ◽  
Annika K. Hult ◽  
Ines Moser ◽  
Beatriz Tomaz ◽  
Maria Rodrigues ◽  
...  
Keyword(s):  
Nucleotide Substitution ◽  
Single Nucleotide Substitution ◽  
Single Nucleotide

scholarly journals Expanded insecticide catabolic activity gained by a single nucleotide substitution in a bacterial carbamate hydrolase gene

2016 ◽  
Vol 18 (12) ◽  
pp. 4878-4887 ◽  
Author(s):  
Başak Öztürk ◽  
Maarten Ghequire ◽  
Thi Phi Oanh Nguyen ◽  
René De Mot ◽  
Ruddy Wattiez ◽  
...  
Keyword(s):  
Nucleotide Substitution ◽  
Single Nucleotide Substitution ◽  
Single Nucleotide ◽  
Catabolic Activity

A broadly sampled 3-loci plastid phylogeny of Atraphaxis (Polygoneae, Polygonoideae, Polygonaceae) reveals new taxa: II. Atraphaxis selengensis spec. nov., and A. davurica Jaub. & Spach from Russian Transbaikalia

Phytotaxa ◽  
2021 ◽  
Vol 484 (1) ◽  
pp. 44-74
Author(s):  
OLGA V. YURTSEVA ◽  
N.K. BADMAEVA ◽  
EVGENY V. MAVRODIEV
Keyword(s):  
Maximum Likelihood ◽  
Nucleotide Substitution ◽  
Single Nucleotide Substitution ◽  
Sem Images ◽  
Single Nucleotide ◽  
Bayesian Analyses ◽  
Dune Sands ◽  
F Region ◽  
Specific Morphology ◽  
Length Width

Maximum Likelihood (ML) and Bayesian analyses (BI) applied for 3-plastid loci (cpDNA trnL(UAA) intron, trnL–trnF IGS, and rpl32–trnL(UAG) IGS regions) / 55 tips of Atraphaxis revealed a subclade of two endemics from Transbaikalia (Dahuria) which are often mistaken for A. pungens and A. frutescens but phylogenetically distant from both. Atraphaxis selengensis is a species new to science which inhabits dune sands along the Selenga and Chikoy rivers and has specific morphology of perianth, fruits, ochreas, leaf blades, and pollen. Atraphaxis davurica inhabits stony mountain steppe in Buryatia and Chita region and differs from A. pungens and A. frutescens by longer ochreas, fruits, styles and stigmas extended to ends. Two varieties recognized by Ledebour in plants from Russian Transbaikalia have no clear morphological and molecular distinctions, but the plants from Khentei-Chikoy Highlands subtly differ in leaf ratio (length/width), bark colour, and a single-nucleotide substitution in trnL–F region. These plants are described as A. davurica var. chikoensis var. nov. Morphological descriptions of A. selengensis and A. davurica are supplied with LM and SEM images and a distributional map. Atraphaxis frutescens and A. pungens are absent from Russian Transbaikalia but distributed in Altai, Tuva, Khakassia, Mongolia and China.

A novel primary KIT exon 9 single nucleotide substitution c.1427G>T (p.Ser476Ile) in a gastrointestinal stromal tumor

2010 ◽  
Vol 457 (5) ◽  
pp. 623-625
Author(s):  
Florian Grabellus ◽  
Sien-Yi Sheu ◽  
Sebastian Bauer ◽  
Norbert Speich ◽  
Kurt W. Schmid ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Nucleotide Substitution ◽  
Stromal Tumor ◽  
Single Nucleotide Substitution ◽  
Single Nucleotide ◽  
Exon 9
Sign in / Sign up

Export Citation Format

Share Document