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One protein to rule them all: The role of CCCTC-binding factor in shaping human genome in health and disease

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dc.abstract.en<p>The eukaryotic genome, constituting several billion base pairs, must be contracted to fit within the volume of a nucleus where the diameter is on the scale of μm. The 3D structure and packing of such a long sequence cannot be left to pure chance, as DNA must be efficiently used for its primary roles as a matrix for transcription and replication. In recent years, methods like chromatin conformation capture (including 3C, 4C, Hi-C, ChIA-PET and Multi-ChIA) and optical microscopy have advanced substantially and have shed new light on how eukaryotic genomes are hierarchically organized; first into 10-nm fiber, next into DNA loops, topologically associated domains and finally into interphase or mitotic chromosomes. This knowledge has allowed us to revise our understanding regarding the mechanisms governing the process of DNA organization. Mounting experimental evidence suggests that the key element in the formation of loops is the binding of the CCCTC-binding factor (CTCF) to DNA; a protein that can be referred to as the chief organizer of the genome. However, CTCF does not work alone but in cooperation with other proteins, such as cohesin or Yin Yang 1 (YY1). In this short review, we briefly describe our current understanding of the structure of eukaryotic genomes, how they are established and how the formation of DNA loops can influence gene expression. We discuss the recent discoveries describing the 3D structure of the CTCF-DNA complex and the role of CTCF in establishing genome structure. Finally, we briefly explain how various genetic disorders might arise as a consequence of mutations in the CTCF target sequence or alteration of genomic imprinting.</p>
dc.affiliationUniwersytet Warszawski
dc.contributor.authorRusek, Anna Maria
dc.contributor.authorDawson, Wayne K.
dc.contributor.authorŁaźniewski, Michał
dc.contributor.authorPlewczyński, Dariusz
dc.date.accessioned2024-01-25T15:44:14Z
dc.date.available2024-01-25T15:44:14Z
dc.date.issued2019
dc.description.financeNie dotyczy
dc.description.volume90
dc.identifier.doi10.1016/J.SEMCDB.2018.08.003
dc.identifier.issn1084-9521
dc.identifier.urihttps://repozytorium.uw.edu.pl//handle/item/114611
dc.identifier.weblinkhttps://pubmed.ncbi.nlm.nih.gov/30096365/
dc.languageeng
dc.pbn.affiliationbiological sciences
dc.relation.ispartofSeminars in Cell and Developmental Biology
dc.relation.pages114-127
dc.rightsClosedAccess
dc.sciencecloudnosend
dc.titleOne protein to rule them all: The role of CCCTC-binding factor in shaping human genome in health and disease
dc.typeJournalArticle
dspace.entity.typePublication