abstract   objective: in this study, we evaluated pten mutations in cowden disease and juvenile polyposis syndrome. pten mutations were detected, cancer and other phenotypes associated with each of these mutations were characterized and loss of wild type pten allele in the associated tumors was demonstrated. methods: out of 9 patients included in this study, 8 had juvenile polyposis and 1 had c...

in this study the genetic polymorphism of growth hormone (gh) gene as a candidate gene in livestock was investigated. blood samples were randomly collected from 34 alpine and 42 saanen goats. dna was extracted from blood samples and a 365 bp region of exon 5 of the gh genewas amplified by polymerase chain reaction (pcr). pcr products were analyzed using single strand conformation polymorphism (...

A crucial component of the human mitochondrial DNA replisome is the ring-shaped helicase TWINKLE-a phage T7-gene 4-like protein expressed in the nucleus and localized in the human mitochondria. Our previous studies showed that despite being a helicase, TWINKLE has unique DNA annealing activity. At the time, the implications of DNA annealing by TWINKLE were unclear. Herein, we report that TWINKL...

DNA polymorphism within diacylglycerol transferase 2 (DGAT2) / monoacyl glycerol transferases 2 (MOGAT2), leptin and butyrophilin genes were analysed using PCR-SSCP in Murrah buffalo. The single strand conformation polymorphism (SSCP) analysis of amplified gene fragment in exon 5 of MOGAT2, exon 3 of leptin and intron 1 of butyrophilin gene revealed different patterns. A, B and C showed the fol...

Acetyl-coenzyme A carboxylase α (ACC-alpha) is considered as the key regulatory enzyme in fatty acid biosynthesis. ACC-alpha gene is located on Caprine chromosome 11 and is polymorphic in many goat breeds. In the current study, we aimed to find possible single nucleotide polymorphisms (SNPs) in the exon 1 region of the ACC-alpha gene in Iranian Mahabadi goat breed. Genomic DNA was extracted fro...

During transcription in vitro catalysed by the virion RNA polymerase of Aspergillus foetidus virus AfV-S in the presence of tritiated UTP, the virus double-stranded RNA becomes labelled in one strand, which has the same sequence as the single-stranded RNA transcripts produced. Most of the label incorporated into double-stranded RNA could be chased into single stranded RNA by further reaction wi...

The Swi5-Sfr1 heterodimer protein stimulates the Rad51-promoted DNA strand exchange reaction, a crucial step in homologous recombination. To clarify how this accessory protein acts on the strand exchange reaction, we have analyzed how the structure of the primary reaction intermediate, the Rad51/single-stranded DNA (ssDNA) complex filament formed in the presence of ATP, is affected by Swi5-Sfr1...

In this study the genetic polymorphism of growth hormone (GH) gene as a candidate gene in livestock was investigated. Blood samples were randomly collected from 34 Alpine and 42 Saanen goats. DNA was extracted from blood samples and a 365 bp region of exon 5 of the GH genewas amplified by polymerase chain reaction (PCR). PCR products were analyzed using single strand conformation polymorphism (...

  Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...

We recently described two mutant recA proteins, (G160N)recA and (H163A)recA, which have full single-stranded DNA-dependent ATP hydrolysis activity but which are unable to promote the ATP-dependent strand exchange reaction under standard reaction conditions (pH 7.5). These mutant proteins, however, are able to promote strand exchange at pH 6.0 to 6.8. Here we show that this activation correlates...