Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network
نویسندگان
چکیده
Intrauterine and postnatal growth disturbances are major clinical features of imprinting disorders, a molecularly defined group congenital syndromes caused by molecular alterations affecting parentally imprinted genes. These genes expressed monoallelically in parent-of-origin manner, they have an impact on human development. In fact, several with exclusive expression from the paternal allele been shown to promote foetal growth, whereas maternally suppress it. The evolution this correlation might be explained different interests maternal genomes, aiming for conservation resources multiple offspring versus extracting maximal resources. Since not all higher mammals show same pattern species, findings animal models always transferable human. Therefore, disorders serve as understand complex regulation interaction loci. This knowledge is prerequisite development precise diagnostic tools therapeutic strategies patients affected disorders. review we will specifically overview current associated retardation, its increasing relevance personalised medicine direction need multidisciplinary approach.
منابع مشابه
Genomic Imprinting
BACKGROUND Genomic imprinting is the inheritance out of Mendelian borders. Many of inherited diseases and human development violates Mendelian law of inheritance, this way of inheriting is studied by epigenetics. AIM The aim of this review is to analyze current opinions and options regarding to this way of inheriting. RESULTS Epigenetics shows that gene expression undergoes changes more com...
متن کاملGenomic imprinting
Genomic imprinting is the epigenetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner. If the allele inherited from the father is imprinted, it is thereby silenced, and only the allele from the mother is expressed. If the allele from the mother is imprinted, then only the allele from the father is expressed. Forms of genomic imprinting have been demonstrated...
متن کاملGenomic imprinting
Genomic imprinting is a normal form of gene regulation that causes a subset of mammalian genes to be expressed from one of the two parental chromosomes. Some imprinted genes are expressed from the maternally inherited chromosomes and others from the paternally inherited chromosomes. This means that the maternal and paternal genomes are not functionally equivalent and is the reason why both a ma...
متن کاملGenomic imprinting in fetal growth and development.
Each somatic cell of the human body contains 46 chromosomes consisting of two sets of 23; one inherited from each parent. These chromosomes can be categorised as 22 pairs of autosomes and two sex chromosomes; females are XX and males are XY. Similarly, at the molecular level, two copies of each autosomal gene exist; one copy derived from each parent. Until the mid-1980s, it was assumed that eac...
متن کاملAngelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.
Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. In this review, we describe recent advances in understanding the expression and function of UBE3A in the brain and the etiology of AS. W...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Genes
سال: 2021
ISSN: ['2073-4425']
DOI: https://doi.org/10.3390/genes12040585