Open AccessImprinting disorders in humans: a review
Author(s) -
Merlin G. Butler
Publication year - 2020
Publication title -
current opinion in pediatrics, with evaluated medline/current opinion in pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.817
H-Index - 87
eISSN - 1080-8116
pISSN - 1040-8703
DOI - 10.1097/mop.0000000000000965
Subject(s) - genomic imprinting , angelman syndrome , epigenetics , imprinting (psychology) , dna methylation , genetics , gnas complex locus , epigenomics , biology , gene duplication , gene , medicine , bioinformatics , gene expression
Mammals have two complete sets of chromosomes, one from each parent with equal autosomal gene expression. Less than one percentage of human genes are imprinted or show expression from only one parent without changing gene structure, usually by DNA methylation, but reversible in gametogenesis. Many imprinted genes affect fetal growth and development accounting for several human disorders reviewed in this report.