Genetic and Epigenetic Control of CDKN1C Expression: Importance in Cell Commitment and Differentiation, Tissue Homeostasis and Human Diseases

被引：55

作者：

Stampone, Emanuela ^{[1
]}

Caldarelli, Ilaria ^{[1
]}

Zullo, Alberto ^{[2
,3
]}

Bencivenga, Debora ^{[1
]}

Mancini, Francesco Paolo ^{[2
]}

Della Ragione, Fulvio ^{[1
]}

Borriello, Adriana ^{[1
]}

机构：

[1] Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, Italy

[2] Univ Sannio, Dept Sci & Technol, I-82100 Benevento, Italy

[3] CEINGE Biotecnol Avanzate SCARL, I-80145 Naples, Italy

来源：

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2018年 / 19卷 / 04期

关键词：

p57(Kip2); CDKN1C; epigenetics; disease; cell differentiation; DEPENDENT KINASE INHIBITOR; BECKWITH-WIEDEMANN-SYNDROME; PLACENTAL MESENCHYMAL DYSPLASIA; REPRESSIVE HISTONE METHYLATION; ABERRANT DNA METHYLATION; PCNA-BINDING DOMAIN; ZESTE HOMOLOG 2; P57(KIP2) EXPRESSION; MICE LACKING; CYCLE ARREST;

D O I：

10.3390/ijms19041055

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：

The CDKN1C gene encodes the p57(Kip2) protein which has been identified as the third member of the CIP/Kip family, also including p27(Kip1) and p21(Cip1). In analogy with these proteins, p57(Kip2) is able to bind tightly and inhibit cyclin/cyclin-dependent kinase complexes and, in turn, modulate cell division cycle progression. For a long time, the main function of p57(Kip2) has been associated only to correct embryogenesis, since CDKN1C-ablated mice are not vital. Accordingly, it has been demonstrated that CDKN1C alterations cause three human hereditary syndromes, characterized by altered growth rate. Subsequently, the p57(Kip2) role in several cell phenotypes has been clearly assessed as well as its down-regulation in human cancers. CDKN1C lies in a genetic locus, 11p15.5, characterized by a remarkable regional imprinting that results in the transcription of only the maternal allele. The control of CDKN1C transcription is also linked to additional mechanisms, including DNA methylation and specific histone methylation/acetylation. Finally, long non-coding RNAs and miRNAs appear to play important roles in controlling p57(Kip2) levels. This review mostly represents an appraisal of the available data regarding the control of CDKN1C gene expression. In addition, the structure and function of p57(Kip2) protein are briefly described and correlated to human physiology and diseases.

引用

页数：24

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