X inactivation and reactivation in X-linked diseases

被引：38

作者：

Vacca, Marcella ^{[1
]}

Della Ragione, Floriana ^{[1
,2
]}

Scalabri, Francesco ^{[2
]}

D'Esposito, Maurizio ^{[1
,2
]}

机构：

[1] CNR, Inst Genet & Biophys A Buzzati Traverso, Via Pietro Castellino 111, I-80131 Naples, Italy

[2] IRCCS Neuromed, Pozzilli, Isernia, Italy

来源：

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY | 2016年 / 56卷

关键词：

X inactivation; X-linked diseases; Rett syndrome; MECP2; Neurological diseases; CPG-BINDING PROTEIN-2; HETEROZYGOUS XIAP MUTATION; RETT-SYNDROME BRAIN; CHROMOSOME-INACTIVATION; MECP2; MUTATIONS; DOSAGE COMPENSATION; MOUSE MODEL; XIST RNA; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; DOMINANT INHERITANCE;

D O I：

10.1016/j.semcdb.2016.03.009

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

X chromosome inactivation (XCI) is the phenomenon by which mammals compensate for dosage of X linked genes in females (XX) versus males (XY). XCI patterns can be random or show extreme skewing, and can modify the mode of inheritance of X-driven phenotypes, which contributes to the variability of human pathologies. Recent findings have shown reversibility of the XCI process, which has opened new avenues in the approaches used for the treatment of X-linked diseases. (C) 2016 Elsevier Ltd. All rights reserved.

引用

页码：78 / 87

页数：10

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