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

被引：30

作者：

Baglivo, Ilaria ^{[1
]}

Esposito, Sabrina ^{[1
]}

De Cesare, Lucia ^{[1
]}

Sparago, Angela ^{[1
,2
]}

Anvar, Zahra ^{[2
]}

Riso, Vincenzo ^{[2
]}

Cammisa, Marco ^{[2
]}

Fattorusso, Roberto ^{[1
]}

Grimaldi, Giovanna ^{[2
]}

Riccio, Andrea ^{[1
,2
]}

Pedone, Paolo V. ^{[1
]}

机构：

[1] Univ Naples 2, Dipartimento Sci & Tecnol Ambientali Biol & Farma, I-81100 Caserta, Italy

[2] CNR, Ist Genet & Biofis A Buzzati Traverso, I-80131 Naples, Italy

来源：

FEBS LETTERS | 2013年 / 587卷 / 10期

关键词：

ZFP57; Transient neonatal diabetes; Imprinting; Hypomethylation; DNA binding; ZINC; PROTEIN; IDENTIFICATION; METHYLATION; RECOGNITION; DOMAIN; ZFP-57;

D O I：

10.1016/j.febslet.2013.02.045

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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. (C) 2013 Federation of European Biochemical Societies. Published by Elsevier B. V. All rights reserved.

引用

页码：1474 / 1481

页数：8

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