Epigenetics and imprinting in human disease

被引：87
作者：
Kalish, Jennifer M. [1 ]
Jiang, Connie [1 ]
Bartolomei, Marisa S. [1 ]
机构：
[1] Univ Penn, Perelman Sch Med, Dept Cell & Dev Biol, Philadelphia, PA 19104 USA
来源：
INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY | 2014年 / 58卷 / 2-4期
基金：
美国国家卫生研究院;
关键词：
genomic imprinting; DNA methylation; Beckwith-Wiedemann syndrome; Russell-Silver syndrome; BECKWITH-WIEDEMANN-SYNDROME; ASSISTED REPRODUCTIVE TECHNOLOGY; REPRESSIVE HISTONE METHYLATION; HUMAN HEPATOCELLULAR-CARCINOMA; PATERNAL UNIPARENTAL DISOMY; DNA METHYLATION; ALLELIC EXPRESSION; TUMOR-SUPPRESSOR; CONTROL REGIONS; CELL CARCINOMA;
D O I：
10.1387/ijdb.140077mb
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
Most genes are expressed from both parental chromosomes; however, a small number of genes in mammals are imprinted and expressed in a parent-of-origin specific manner. These imprinted genes play an important role in embryonic and extraembryonic growth and development, as well as in a variety of processes after birth. Many imprinted genes are clustered in the genome with the establishment and maintenance of imprinted gene expression governed by complex epigenetic mechanisms. Dysregulation of these epigenetic mechanisms as well as genomic mutations at imprinted gene clusters can lead to human disease.
引用
收藏
页码：291 / 298
页数：8
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