Genetic and epigenetic pathways in Down syndrome: Insights to the brain and immune system from humans and mouse models.
Animal models
Down syndrome
Epigenetics
Genetics
Trisomy 21
Journal
Progress in brain research
ISSN: 1875-7855
Titre abrégé: Prog Brain Res
Pays: Netherlands
ID NLM: 0376441
Informations de publication
Date de publication:
2020
2020
Historique:
entrez:
15
2
2020
pubmed:
15
2
2020
medline:
22
12
2020
Statut:
ppublish
Résumé
The presence of an extra copy of human chromosome 21 (Hsa21) leads to a constellation of phenotypic manifestations in Down syndrome (DS), including prominent effects on the brain and immune system. Intensive efforts to unravel the molecular mechanisms underlying these phenotypes may help developing effective therapies, both in DS and in the general population. Here we review recent progress in genetic and epigenetic analysis of trisomy 21 (Ts21). New mouse models of DS based on syntenic conservation of segments of the mouse and human chromosomes are starting to clarify the contributions of chromosomal subregions and orthologous genes to specific phenotypes in DS. The expression of genes on Hsa21 is regulated by epigenetic mechanisms, and with recent findings of highly recurrent gene-specific changes in DNA methylation patterns in brain and immune system cells with Ts21, the epigenomics of DS has become an active research area. Here we highlight the value of combining human studies with mouse models for defining DS critical genes and understanding the trans-acting effects of a simple chromosomal aneuploidy on genome-wide epigenetic patterning. These genetic and epigenetic studies are starting to uncover fundamental biological mechanisms, leading to insights that may soon become therapeutically relevant.
Identifiants
pubmed: 32057305
pii: S0079-6123(19)30197-9
doi: 10.1016/bs.pbr.2019.09.002
pmc: PMC7286740
mid: NIHMS1595096
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1-28Subventions
Organisme : NICHD NIH HHS
ID : P01 HD035897
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL091519
Pays : United States
Organisme : NIGMS NIH HHS
ID : R21 GM114645
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS066072
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD090180
Pays : United States
Informations de copyright
© 2020 Elsevier B.V. All rights reserved.
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