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Related Concept Videos

Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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Loss of Tumor Suppressor Gene Functions01:12

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Viral Mutations00:36

Viral Mutations

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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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Line Loss01:10

Line Loss

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The different configurations of source-load connections include wye (star) and delta connections. The relationship between line and phase voltages and currents varies depending on the configuration. When the source is supplying power, it is transmitted through the wires to the load, and during this transmission, some power is absorbed by the wires, leading to line loss.
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Reducing Line Loss01:18

Reducing Line Loss

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In a three-phase circuit, line loss is an indicator of energy dissipated as heat due to the resistance of transmission lines. To address this, incorporating transformers into the system—a step-up transformer at the source and a step-down transformer at the load—is a strategic solution. Two three-phase transformers are introduced to improve this.
With a step-up transformer at the source, the voltage is increased, thereby reducing the current in the transmission lines since power loss in...
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Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
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Loss-of-function uORF mutations in human malignancies.

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Mutations in upstream open reading frames (uORFs) can activate proto-oncogenes. This study found loss-of-function uORF mutations in human cancers, suggesting a role in oncogenesis.

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Area of Science:

  • Molecular Biology
  • Genetics
  • Oncology

Background:

  • Upstream open reading frames (uORFs) regulate gene expression, often repressively.
  • Loss-of-function mutations in uORFs can activate proto-oncogenes, but systematic cancer-associated uORF mutation analysis is lacking.

Purpose of the Study:

  • To systematically screen for cancer-associated genetic alterations in uORFs of human tyrosine kinases and proto-oncogenes.
  • To investigate the functional impact of identified uORF mutations on gene translation and their potential role in carcinogenesis.

Main Methods:

  • Utilized a PCR-based, multiplex identifier-tagged deep sequencing approach to screen uORF translation initiation sites.
  • Analyzed whole exome sequencing datasets to identify somatic mutations affecting uORF initiation and termination codons.

Main Results:

  • Identified loss-of-function uORF mutations in EPHB1 (breast and colon cancer) and MAP2K6 (colon adenocarcinoma), associated with enhanced translation.
  • Discovered 53 additional non-recurrent somatic mutations affecting uORF initiation and termination codons in colon adenocarcinomas.
  • Provided evidence for somatic mutations impacting uORF initiation and termination codons in human cancer.

Conclusions:

  • Loss-of-uORF mutations can lead to translational induction of downstream coding sequences, potentially contributing to cancer development.
  • Somatic mutations affecting uORFs are present in human cancers, highlighting their role in oncogenesis.
  • Future genome-wide analyses are needed to fully define the contribution of uORF deregulation in cancer.