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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
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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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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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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Mutations in Microorganisms01:18

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Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
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A Guide to PIN1 Function and Mutations Across Cancers.

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Peptidylprolyl isomerase NIMA-interacting 1 (PIN1) plays a dual role in cancer, promoting or suppressing tumors. This review examines PIN1

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Area of Science:

  • Biochemistry and Molecular Biology
  • Oncology
  • Genetics

Background:

  • PIN1 (Peptidylprolyl isomerase NIMA-interacting 1) is a key enzyme regulating protein conformation.
  • It catalyzes cis-trans isomerization of proline peptide bonds, affecting protein structure, function, and stability.
  • PIN1 dysregulation is implicated in human cancers, exhibiting context-dependent roles as both an oncogene and a tumor suppressor.

Purpose of the Study:

  • To review the multifaceted role of PIN1 in cancer development and progression.
  • To explore the regulatory mechanisms governing PIN1 expression in cancer cells.
  • To catalog genetic variations (SNPs and mutations) in the PIN1 gene associated with cancer risk and outcomes.

Main Methods:

  • Literature review of studies on PIN1 in cancer.
  • Analysis of PIN1 gene expression and regulation.
  • Cataloging of PIN1 single nucleotide polymorphisms (SNPs) and mutations.
  • Development of a 3D protein model to map mutated residues.

Main Results:

  • PIN1 overexpression is common in human cancers, often linked to tumorigenesis.
  • PIN1 can act as a tumor suppressor in certain cellular contexts.
  • Numerous SNPs and mutations in the PIN1 gene have been identified and associated with various cancers.
  • A 3D model highlights the locations of cancer-associated mutations within the PIN1 protein structure.

Conclusions:

  • PIN1's role in cancer is complex and context-dependent.
  • Understanding PIN1 regulation and genetic variations is crucial for cancer research.
  • The 3D model provides structural insights into how PIN1 mutations may impact its function in cancer.