Unknown

Dataset Information

0

Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network.


ABSTRACT: Intrauterine and postnatal growth disturbances are major clinical features of imprinting disorders, a molecularly defined group of congenital syndromes caused by molecular alterations affecting parentally imprinted genes. These genes are expressed monoallelically and in a parent-of-origin manner, and they have an impact on human growth and development. In fact, several genes with an exclusive expression from the paternal allele have been shown to promote foetal growth, whereas maternally expressed genes suppress it. The evolution of this correlation might be explained by the different interests of the maternal and paternal genomes, aiming for the conservation of maternal resources for multiple offspring versus extracting maximal maternal resources. Since not all imprinted genes in higher mammals show the same imprinting pattern in different species, the findings from animal models are not always transferable to human. Therefore, human imprinting disorders might serve as models to understand the complex regulation and interaction of imprinted loci. This knowledge is a prerequisite for the development of precise diagnostic tools and therapeutic strategies for patients affected by imprinting disorders. In this review we will specifically overview the current knowledge on imprinting disorders associated with growth retardation, and its increasing relevance in a personalised medicine direction and the need for a multidisciplinary therapeutic approach.

SUBMITTER: Eggermann T 

PROVIDER: S-EPMC8073901 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature

altmetric image

Publications

Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network.

Eggermann Thomas T   Davies Justin H JH   Tauber Maithé M   van den Akker Erica E   Hokken-Koelega Anita A   Johansson Gudmundur G   Netchine Irène I  

Genes 20210417 4


Intrauterine and postnatal growth disturbances are major clinical features of imprinting disorders, a molecularly defined group of congenital syndromes caused by molecular alterations affecting parentally imprinted genes. These genes are expressed monoallelically and in a parent-of-origin manner, and they have an impact on human growth and development. In fact, several genes with an exclusive expression from the paternal allele have been shown to promote foetal growth, whereas maternally express  ...[more]

Similar Datasets

| S-EPMC3116240 | biostudies-literature
2019-02-05 | GSE120981 | GEO
| S-EPMC8754331 | biostudies-literature
| PRJNA495170 | ENA
| S-EPMC1287882 | biostudies-literature
| S-EPMC2945012 | biostudies-literature
| S-EPMC9713850 | biostudies-literature
2016-10-24 | GSE85414 | GEO
| S-EPMC6325703 | biostudies-literature
| S-EPMC6121825 | biostudies-literature