Effect of progerin on genes involved in progeria (WP4320)

Homo sapiens

The effect of progerin on the involved genes in progeria, also known as Hutchinson-Gilford progeria syndrome (HGPS). Each colored box shows a different element of the pathway. The red box on the upper right shows that upregulation of the p53 pathway leads to apoptosis and senescence. The box beneath the red one, the purple one, indicates the inhibition of the Wnt pathway by progerin which results in bone abnormalities. The blue box portrays the epigenetic changes done by heterochromatin and euchromatin silencing. The green box shows that progerin activates SKIP which stimulates the Notch signaling pathway. The orange box surrounds the Mi-2/NuRD complex which is depleted by progerin leading mainly to epigenetic changes. The final yellow box shows the inhibition of SERBP1 by progerin resulting in dysfunctional adipose tissue. Legend shows basic and MIM-interactions and indication for methylation.

Authors

Lora Simons , Denise Slenter , Friederike Ehrhart , Eric Weitz , and Egon Willighagen

Activity

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Organisms

Homo sapiens

Communities

Diseases Rare Diseases

Annotations

Pathway Ontology

disease pathway

Disease Ontology

progeria

Participants

Label Type Compact URI Comment
MBD3 GeneProduct ensembl:ENSG00000071655
LEF1 GeneProduct ensembl:ENSG00000138795
KDM1A GeneProduct ensembl:ENSG00000004487
HDAC2 GeneProduct ensembl:ENSG00000196591
CBX3 GeneProduct ensembl:ENSG00000122565
CHD3 GeneProduct ensembl:ENSG00000170004
RBBP4 GeneProduct ensembl:ENSG00000162521
E2F1 GeneProduct ensembl:ENSG00000101412
MBD2 GeneProduct ensembl:ENSG00000134046
CBX1 GeneProduct ensembl:ENSG00000108468
MTA2 GeneProduct ensembl:ENSG00000149480
CHD4 GeneProduct ensembl:ENSG00000111642
HDAC1 GeneProduct ensembl:ENSG00000116478
MTA3 GeneProduct ensembl:ENSG00000057935
SKIP GeneProduct ensembl:ENSG00000132376
SREBF1 GeneProduct ensembl:ENSG00000072310
CBX5 GeneProduct ensembl:ENSG00000094916
MTA1 GeneProduct ensembl:ENSG00000182979
RBBP7 GeneProduct ensembl:ENSG00000102054
SUV39H1 GeneProduct ensembl:ENSG00000101945
RB1 GeneProduct ensembl:ENSG00000139687
TP53 GeneProduct ensembl:ENSG00000141510
Progerin Protein uniprot:P02545-6
Histone H3.3 Protein uniprot:P84243
Histone H3.2 Protein uniprot:Q71DI3
Histone H3.1 Protein uniprot:P68431

References

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  2. Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, Gordon LB, et al. Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):8963–8. PubMed Europe PMC Scholia
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  8. The structure of the core NuRD repression complex provides insights into its interaction with chromatin. Millard CJ, Varma N, Saleh A, Morris K, Watson PJ, Bottrill AR, et al. Elife. 2016 Apr 21;5:e13941. PubMed Europe PMC Scholia
  9. Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations. Gonzalo S, Kreienkamp R, Askjaer P. Ageing Res Rev. 2017 Jan;33:18–29. PubMed Europe PMC Scholia