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Evaluation of ATG7 and LC3 Autophagy Genes Expression in Newly Diagnosed AML patients Background and aim: Autophagy, known as cell death type II, is a housekeeping pathway that currently has been worked on in matters of tumorigenesis and leukemogenesis. Therefore, in this study expression levels of ATG7 and LC3 as two key genes are targeted in AML patients. Material and method: This...

objective ullrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development. in general it is inherited in autosomal recessive principles, however in the western world mostly seen with de novo dominant mutations in the collagen vi genes. milder form of the condition is the bethlem myopathy. there may be overlap ...

We describe a novel approach to comparative assembly that directly integrates anchoring alignments into the contig assembly process, enabling the extension of contig construction through the boundaries of repeat nodes in a compressed de Bruijn graph. Our method exploits anchoring alignments, paired-read constraints and read threading as path selection heuristics while an assembly graph is trans...

New protein-coding genes can originate either through modification of existing genes or de novo. Recently, the importance of de novo origination has been recognized in eukaryotes, although eukaryotic genes originated de novo are relatively rare and difficult to identify. In contrast, viruses contain many de novo genes, namely those in which an existing gene has been "overprinted" by a new open ...

BACKGROUND Human de novo single-nucleotide variation (SNV) rate is estimated to range between 0.82-1.70×10(-8) mutations per base per generation. However, contribution of early postzygotic mutations to the overall human de novo SNV rate is unknown. METHODS We performed deep whole-genome sequencing (more than 30-fold coverage per individual) of the whole-blood-derived DNA samples of a healthy ...

Genome-wide scans have revealed a significant role for de novo copy number variants (CNVs) and Single Nucleotide variants (SNVs) in the genetic architecture of schizophrenia. The present study attempts to parse schizophrenia based on the presence of such de novo mutations and attempts genotype-phenotype correlation. We examined phenotypic variables across three broad categories: clinical presen...

How non-coding DNA gives rise to new protein-coding genes (de novo genes) is not well understood. Recent work has revealed the origins and functions of a few de novo genes, but common principles governing the evolution or biological roles of these genes are unknown. To better define these principles, we performed a parallel analysis of the evolution and function of six putatively protein-coding...

New genes, with novel protein functions, can evolve “from scratch” out of intergenic sequences. These de novo genes can integrate the cell's genetic network and drive important phenotypic innovations. Therefore, identifying de novo genes and understanding how the transition from noncoding to coding occurs are key problems in evolutionary biology. However, identifying de novo genes is a difficul...