Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1

In the mouse, ZFP57 contains three classical Cys(2)His(2) zinc finger domains (ZF) and recognizes the methylated TGC(met)CGC target sequence using the first and the second ZFs. In this study, we demonstrate that the human ZFP57 (hZFP57) containing six Cys(2)His(2) ZFs, binds the same methylated sequ...

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Autores principales: Baglivo, Ilaria, Esposito, Sabrina, De Cesare, Lucia, Sparago, Angela, Anvar, Zahra, Riso, Vincenzo, Cammisa, Marco, Fattorusso, Roberto, Grimaldi, Giovanna, Riccio, Andrea, Pedone, Paolo V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Science B.V 2013
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3655262/
https://www.ncbi.nlm.nih.gov/pubmed/23499433
http://dx.doi.org/10.1016/j.febslet.2013.02.045
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author Baglivo, Ilaria
Esposito, Sabrina
De Cesare, Lucia
Sparago, Angela
Anvar, Zahra
Riso, Vincenzo
Cammisa, Marco
Fattorusso, Roberto
Grimaldi, Giovanna
Riccio, Andrea
Pedone, Paolo V.
author_facet Baglivo, Ilaria
Esposito, Sabrina
De Cesare, Lucia
Sparago, Angela
Anvar, Zahra
Riso, Vincenzo
Cammisa, Marco
Fattorusso, Roberto
Grimaldi, Giovanna
Riccio, Andrea
Pedone, Paolo V.
author_sort Baglivo, Ilaria
collection PubMed
description In the mouse, ZFP57 contains three classical Cys(2)His(2) zinc finger domains (ZF) and recognizes the methylated TGC(met)CGC target sequence using the first and the second ZFs. In this study, we demonstrate that the human ZFP57 (hZFP57) containing six Cys(2)His(2) ZFs, binds the same methylated sequence through the third and the fourth ZFs, and identify the aminoacids critical for DNA interaction. In addition, we present evidences indicating that hZFP57 mutations and hypomethylation of the TNDM1 ICR both associated with Transient Neonatal Diabetes Mellitus type 1 result in loss of hZFP57 binding to the TNDM1 locus, likely causing PLAGL1 activation.
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spelling pubmed-36552622013-05-21 Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1 Baglivo, Ilaria Esposito, Sabrina De Cesare, Lucia Sparago, Angela Anvar, Zahra Riso, Vincenzo Cammisa, Marco Fattorusso, Roberto Grimaldi, Giovanna Riccio, Andrea Pedone, Paolo V. FEBS Lett Article In the mouse, ZFP57 contains three classical Cys(2)His(2) zinc finger domains (ZF) and recognizes the methylated TGC(met)CGC target sequence using the first and the second ZFs. In this study, we demonstrate that the human ZFP57 (hZFP57) containing six Cys(2)His(2) ZFs, binds the same methylated sequence through the third and the fourth ZFs, and identify the aminoacids critical for DNA interaction. In addition, we present evidences indicating that hZFP57 mutations and hypomethylation of the TNDM1 ICR both associated with Transient Neonatal Diabetes Mellitus type 1 result in loss of hZFP57 binding to the TNDM1 locus, likely causing PLAGL1 activation. Elsevier Science B.V 2013-05-21 /pmc/articles/PMC3655262/ /pubmed/23499433 http://dx.doi.org/10.1016/j.febslet.2013.02.045 Text en © 2013 Elsevier B.V. https://creativecommons.org/licenses/by-nc-nd/3.0/ Open Access under CC BY-NC-ND 3.0 (https://creativecommons.org/licenses/by-nc-nd/3.0/) license
spellingShingle Article
Baglivo, Ilaria
Esposito, Sabrina
De Cesare, Lucia
Sparago, Angela
Anvar, Zahra
Riso, Vincenzo
Cammisa, Marco
Fattorusso, Roberto
Grimaldi, Giovanna
Riccio, Andrea
Pedone, Paolo V.
Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1
title Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1
title_full Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1
title_fullStr Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1
title_full_unstemmed Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1
title_short Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1
title_sort genetic and epigenetic mutations affect the dna binding capability of human zfp57 in transient neonatal diabetes type 1
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3655262/
https://www.ncbi.nlm.nih.gov/pubmed/23499433
http://dx.doi.org/10.1016/j.febslet.2013.02.045
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