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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.
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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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DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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Human mutations affect the epigenetic/bookmarking function of HNF1B.

Jonathan Lerner1, Alessia Bagattin1, Francisco Verdeguer1

  • 1Department of Development, Reproduction and Cancer, Institut Cochin, INSERM U1016/CNRS UMR 8104/Université Paris-Descartes, Paris 75014, France.

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Mutations in the HNF1β bookmarking factor impair its association with mitotic chromatin, affecting epigenetic inheritance. Temperature changes and importin-β influence this process, revealing new mechanisms for HNF1β mitotic retention.

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Area of Science:

  • Epigenetics
  • Molecular Biology
  • Cell Biology

Background:

  • Bookmarking factors are crucial for transmitting epigenetic information during cell division.
  • The precise mechanisms of bookmarking factor binding to mitotic chromatin are not fully understood.
  • Hepatocyte Nuclear Factor 1-beta (HNF1β) is a bookmarking factor implicated in renal and diabetic diseases.

Purpose of the Study:

  • To investigate the impact of naturally occurring HNF1β mutations on its bookmarking activity.
  • To elucidate the mechanisms governing HNF1β association with mitotic chromatin.
  • To explore the role of external factors and protein interactions in HNF1β mitotic retention.

Main Methods:

  • Analysis of patient-derived HNF1β mutations.
  • Temperature shift experiments to assess HNF1β chromatin association.
  • Investigation of HNF1β DNA-binding properties.
  • Studies involving importin-β to determine its role in HNF1β localization.

Main Results:

  • Naturally occurring HNF1β mutations significantly impair its bookmarking activity and mitotic chromatin association.
  • A decrease in temperature rescues the defect in HNF1β mitotic chromatin association.
  • The relocalization of HNF1β to mitotic chromatin is reversible and linked to altered DNA-binding.
  • Importin-β plays a role in maintaining HNF1β's presence on mitotic chromatin.

Conclusions:

  • HNF1β bookmarking activity is sensitive to specific mutations linked to human diseases.
  • Temperature and DNA-binding dynamics are key regulators of HNF1β mitotic association.
  • The nuclear import system, via importin-β, is functionally connected to bookmarking factor localization during mitosis.
  • These findings reveal novel mechanisms underlying HNF1β's role in epigenetic information transmission through the cell cycle.